PTRPLS
MCID: PTR032
MIFTS: 62

Peters-Plus Syndrome (PTRPLS)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Peters-Plus Syndrome

MalaCards integrated aliases for Peters-Plus Syndrome:

Name: Peters-Plus Syndrome 56 12 73 13 39
Peters Anomaly 12 74 52 25 58 36 43 15 39
Krause-Kivlin Syndrome 56 12 74 52 25 58 73 71
Peters Plus Syndrome 12 24 52 25 58 29 6 15
Irido-Corneo-Trabecular Dysgenesis 25 29 6
Peters Anomaly-Short Limb Dwarfism Syndrome 12 25
Peters Anomaly with Short-Limb Dwarfism 56 73
Peters Anomaly with Short Limb Dwarfism 52 58
Krause-Van Schooneveld-Kivlin Syndrome 25 58
Peters Congenital Glaucoma 25 58
Ptrpls 56 73
Peters' Plus Syndrome 25
Peters'-Plus Syndrome 25
Anomaly Peters 54

Characteristics:

Orphanet epidemiological data:

58
peters plus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;
peters anomaly
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
peters-plus syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare cardiac malformations
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060673 DOID:0080201
OMIM 56 261540
KEGG 36 H01075
ICD10 32 Q13.4
MESH via Orphanet 44 C537884
ICD10 via Orphanet 33 Q13.4
UMLS via Orphanet 72 C0796012
Orphanet 58 ORPHA708 ORPHA709
MedGen 41 C0796012
UMLS 71 C0796012

Summaries for Peters-Plus Syndrome

Genetics Home Reference : 25 Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part (iris) of the eye, and the clear covering of the eye (cornea). During development of the eye, the elements of the anterior segment form separate structures. However, in Peters anomaly, development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens. As a result, the cornea is cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the cornea varies in size and intensity from a small, faint streak to a large, white cloudy area that covers the front surface of the eye. Additionally, the location of the opacity varies; the cloudiness may be at the center of the cornea or off-center. Large, centrally located opacities tend to cause poorer vision than smaller, off-center ones. Nearly half of the individuals affected with Peters anomaly have low vision early in life and about a quarter are legally blind. Due to a lack of visual stimulation, some individuals develop "lazy eye" (amblyopia). Peters anomaly is often associated with other eye problems, such as increased pressure within the eye (glaucoma), clouding of the lens (cataract), and unusually small eyeballs (microphthalmia). In most cases, Peters anomaly is bilateral, which means that it affects both eyes, although the level of vision impairment may be different in each eye. These individuals may have eyes that do not point in the same direction (strabismus). In some people with Peters anomaly, corneal clouding improves over time leading to improved vision. There are two types of Peters anomaly, which are distinguished by their signs and symptoms. Peters anomaly type I is characterized by an incomplete separation of the cornea and iris and mild to moderate corneal opacity. Type II is characterized by an incomplete separation of the cornea and lens and severe corneal opacity that may involve the entire cornea.

MalaCards based summary : Peters-Plus Syndrome, also known as peters anomaly, is related to anterior segment dysgenesis 5 and anterior segment dysgenesis 2, and has symptoms including seizures An important gene associated with Peters-Plus Syndrome is B3GLCT (Beta 3-Glucosyltransferase), and among its related pathways/superpathways are Metabolism of proteins and HIV Life Cycle. Affiliated tissues include eye, kidney and heart, and related phenotypes are peters anomaly and short neck

Disease Ontology : 12 A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has material basis in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.

NIH Rare Diseases : 52 Peters anomaly is a disorder of the eye which involves thinning and clouding of the cornea and attachment of the iris to the cornea, which causes blurred vision. It may also be associated with clouding of the lens of the eye (cataracts ) or other lens abnormalities. The cause of Peters anomaly is unknown; it may be caused by genetic factors (including alterations of several genes , like the FOXC1 , PAX6 , PITX2 , or CYP1B1 genes, environmental factors , or both. The critical event must occur in the first trimester of pregnancy during the formation of the anterior chamber. Most cases of Peters anomaly are sporadic or inherited in an autosomal recessive pattern. Some few cases might be inherited in an autosomal dominant pattern. Peters anomaly may occur as an isolated ocular abnormality or in association with other ocular defects. Peters anomaly is a feature of the Krause-Kivlin syndrome and the Peters-plus syndrome . Treatment depends on the problems that the patient has and may include glaucoma treatment or surgery to correct the cataracts or other lens abnormalities.

OMIM : 56 Patients with Peters-plus syndrome exhibit ocular features, systemic malformations, and variable degrees of developmental delay. Ocular abnormalities involve the anterior chamber, and in most patients consist of Peters anomaly, which is characterized by corneal clouding and iridolenticulocorneal adhesions. Growth retardation, short stature, and brachydactyly appear to be present in all patients, and developmental delay is frequent, whereas external ear anomalies, cleft lip and/or palate, and cardiac and genitourinary malformations are less common (Dassie-Ajdid et al., 2009). (261540)

KEGG : 36 Peters anomaly is a subtype of Peters anomaly. It is a developmental disorder that presents with central corneal opacity (leukoma), iris and lenticular adhesions to the cornea, and lack of the posterior corneal stroma, and Descemets membrane. Approximately half of patients develop glaucoma. The majority of cases are sporadic; however, autosomal recessive and dominant patterns of inheritance have been found. Peters-plus syndrome is a rare autosomal recessive genetic disorder including ocular features, systemic malformations, and variable degree of developmental delay. It is caused by mutations in B3GALTL gene.

UniProtKB/Swiss-Prot : 73 Peters-plus syndrome: An autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate.

Wikipedia : 74 Peters-plus syndrome or Krause-Kivlin syndrome is a hereditary syndrome defined by Peters' anomaly,... more...

GeneReviews: NBK1464

Related Diseases for Peters-Plus Syndrome

Diseases related to Peters-Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 170, show less)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 5 33.6 PAX6 CYP1B1
2 anterior segment dysgenesis 2 33.3 PITX3 FOXE3
3 anterior segment dysgenesis 4 33.1 PITX2 FOXC1
4 brachydactyly 31.3 FOXC1 B3GLCT ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
5 intraocular pressure quantitative trait locus 31.1 PITX2 PAX6 FOXC1 CYP1B1
6 congenital disorder of glycosylation, type in 31.0 POFUT2 B3GLCT ADAMTSL1
7 persistent hyperplastic primary vitreous 31.0 PITX2 PAX6 FOXE3 FOXC1
8 anterior segment dysgenesis 30.8 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
9 aniridia 1 30.8 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
10 congenital aphakia 30.8 PAX6 FOXE3
11 isolated aniridia 30.6 PAX6 FOXC1
12 amblyopia 30.6 PITX3 PAX6 FOXE3
13 megalocornea 30.6 PITX2 FOXC1 CYP1B1 ADAMTS17 ADAMTS10
14 coloboma of macula 30.6 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
15 sclerocornea 30.6 PITX2 PAX6 FOXE3 FOXC1 B3GLCT
16 colobomatous microphthalmia 30.5 PITX3 PITX2 PAX6
17 axenfeld-rieger syndrome, type 3 30.5 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
18 primary congenital glaucoma 30.5 PITX2 PAX6 FOXE3 FOXC1 CYP1B1 ADAMTS17
19 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.5 PITX2 PAX6 FOXC1
20 isolated ectopia lentis 30.5 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS17
21 axenfeld-rieger syndrome 30.5 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
22 corneal disease 30.4 PAX6 FOXE3 FOXC1
23 cataract 30.3 PITX3 PITX2 PAX6 FOXE3 FOXC1 ADAMTSL4
24 axenfeld-rieger syndrome, type 1 30.3 PITX3 PITX2 PAX6 FOXE3 FOXC1 B3GLCT
25 eye disease 30.2 PITX2 PAX6 FOXC1 CYP1B1 ADAMTS17
26 glaucoma 3, primary congenital, a 30.0 PITX2 PAX6 FOXE3 FOXC1 CYP1B1 B3GLCT
27 obsolete: peters anomaly-cataract syndrome 12.3
28 anterior segment dysgenesis 6 11.9
29 anterior segment dysgenesis 1 11.8
30 anterior segment dysgenesis 3 11.8
31 branchiootic syndrome 1 11.6
32 cryptophthalmos, unilateral or bilateral, isolated 11.5
33 corneal dystrophy and perceptive deafness 11.2
34 anterior segment dysgenesis 7 11.2
35 anterior segment dysgenesis 8 11.2
36 cataract microcornea syndrome 11.2
37 ectopia lentis 2, isolated, autosomal recessive 10.6 THSD4 ADAMTSL4 ADAMTS10
38 ectopia lentis 1, isolated, autosomal dominant 10.6 THSD4 ADAMTSL4 ADAMTS10
39 tracheal disease 10.6 ADAMTSL2 ADAMTS17 ADAMTS10
40 tracheal stenosis 10.6 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
41 axenfeld-rieger syndrome, type 2 10.5 PITX2 FOXC1
42 cleft lip 10.5
43 early-onset glaucoma 10.5 PITX2 CYP1B1
44 cleft lip/palate 10.5
45 acquired color blindness 10.5 PITX2 PAX6 FOXC1
46 lens subluxation 10.5 PAX6 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
47 intestinal atresia 10.5 PITX2 PAX6 FOXC1
48 communicating hydrocephalus 10.5
49 polyhydramnios 10.5
50 glaucoma, primary open angle 10.4 FOXC1 CYP1B1 ADAMTS17 ADAMTS10
51 disuse amblyopia 10.4 PITX3 FOXE3
52 lens disease 10.4 PITX3 PAX6 FOXE3 ADAMTSL4
53 congenital hypopituitarism 10.4 PITX2 PAX6
54 autosomal recessive disease 10.4
55 hydrophthalmos 10.4 PITX2 PAX6 FOXC1 CYP1B1
56 retinal detachment 10.4
57 babesiosis 10.4 THBS1 ADAMTSL1
58 microphthalmia, isolated 2 10.4 PAX6 CYP1B1
59 weill-marchesani syndrome 10.4 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS20
60 coloboma, ocular, autosomal dominant 10.4 PAX6 CYP1B1
61 juvenile glaucoma 10.3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
62 dwarfism 10.2
63 iris disease 10.2 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
64 pathologic nystagmus 10.2
65 spondyloepimetaphyseal dysplasia, missouri type 10.2 THBS1 ADAMTS9
66 hypertelorism 10.2
67 hydrocephalus, congenital, 1 10.2
68 hydrocephalus 10.2
69 corneal staphyloma 10.2
70 digeorge syndrome 10.1
71 corneal edema 10.1
72 retinoblastoma 10.0
73 strabismus 10.0
74 cryptorchidism, unilateral or bilateral 10.0
75 astigmatism 10.0
76 alkuraya-kucinskas syndrome 10.0
77 familial retinoblastoma 10.0
78 mechanical strabismus 10.0
79 heritable thoracic aortic disease 10.0
80 chromosomal triplication 10.0
81 hypotonia 10.0
82 congenital amyoplasia 10.0
83 cleft palate, isolated 10.0
84 keloid formation 10.0
85 neural tube defects 10.0
86 chromosome 2q35 duplication syndrome 10.0
87 telecanthus 10.0
88 yemenite deaf-blind hypopigmentation syndrome 10.0
89 macular degeneration, age-related, 1 10.0
90 alacrima, achalasia, and mental retardation syndrome 10.0
91 congenital hypothyroidism 10.0
92 myelomeningocele 10.0
93 familial isolated trichomegaly 10.0
94 suppression amblyopia 10.0
95 microphthalmia 10.0
96 microcephaly 10.0
97 spastic diplegia 10.0
98 neurogenic bladder 10.0
99 hypothyroidism 10.0
100 kidney disease 10.0
101 intracranial hypertension 10.0
102 hypoplastic left heart syndrome 10.0
103 keloid disorder 10.0
104 congenital disorders of n-linked glycosylation and multiple pathway 10.0
105 encephalocele 10.0
106 growth hormone deficiency 10.0
107 meningoencephalocele 10.0
108 cri-du-chat syndrome 9.9
109 leri-weill dyschondrosteosis 9.9
110 epicanthus 9.9
111 exostoses, multiple, type i 9.9
112 exudative vitreoretinopathy 1 9.9
113 frontonasal dysplasia 1 9.9
114 optic nerve hypoplasia, bilateral 9.9
115 otitis media 9.9
116 tetralogy of fallot 9.9
117 thrombophilia due to thrombin defect 9.9
118 ulnar hypoplasia 9.9
119 wolf-hirschhorn syndrome 9.9
120 persistent hyperplastic primary vitreous, autosomal recessive 9.9
121 galactosemia 9.9
122 megalocornea-mental retardation syndrome 9.9
123 langer mesomelic dysplasia 9.9
124 bosma arhinia microphthalmia syndrome 9.9
125 polydactyly 9.9
126 phace association 9.9
127 patent ductus arteriosus 1 9.9
128 cataract 34, multiple types 9.9
129 hydrops, lactic acidosis, and sideroblastic anemia 9.9
130 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
131 fetal alcohol syndrome 9.9
132 alcohol-related birth defect 9.9
133 cutaneous t cell lymphoma 9.9
134 ptosis 9.9
135 inguinal hernia 9.9
136 keratoconus 9.9
137 monocular esotropia 9.9
138 meningocele 9.9
139 heart disease 9.9
140 alternating exotropia 9.9
141 exotropia 9.9
142 blind hypotensive eye 9.9
143 myopia 9.9
144 thrombophilia 9.9
145 papillary conjunctivitis 9.9
146 hemangioma 9.9
147 protein c deficiency 9.9
148 holoprosencephaly 9.9
149 unilateral retinoblastoma 9.9
150 conjunctivitis 9.9
151 rubella 9.9
152 dacryoadenitis 9.9
153 dextrocardia 9.9
154 congenital nystagmus 9.9
155 refractive error 9.9
156 esotropia 9.9
157 pax6-related aniridia 9.9
158 polymicrogyria 9.9
159 chromosome 4p deletion 9.9
160 chromosome 5p duplication 9.9
161 coloboma of iris 9.9
162 congenital contractures 9.9
163 mosaic trisomy 9 9.9
164 phocomelia 9.9
165 skeletal dysplasias 9.9
166 partial deletion of the long arm of chromosome 11 9.9
167 cranial meningocele 9.9
168 early-onset non-syndromic cataract 9.9
169 premature aging 9.9
170 overgrowth syndrome 9.9

Graphical network of the top 20 diseases related to Peters-Plus Syndrome:



Diseases related to Peters-Plus Syndrome

Symptoms & Phenotypes for Peters-Plus Syndrome

Human phenotypes related to Peters-Plus Syndrome:

58 31 (showing 142, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peters anomaly 58 31 obligate (100%) Very frequent (99-80%),Obligate (100%) HP:0000659
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
6 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
7 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
9 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
10 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
11 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
12 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
13 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
14 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
15 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
16 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
17 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
18 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
19 anterior chamber synechiae 58 31 hallmark (90%) Very frequent (99-80%) HP:0007833
20 short columella 58 31 hallmark (90%) Very frequent (99-80%) HP:0002000
21 exaggerated cupid's bow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002263
22 subcapsular cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000523
23 anterior synechiae of the anterior chamber 58 31 hallmark (90%) Very frequent (99-80%) HP:0011483
24 central opacification of the cornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0011493
25 thinning of descemet membrane 58 31 hallmark (90%) Very frequent (99-80%) HP:0031159
26 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
27 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
28 nystagmus 58 31 very rare (1%) Frequent (79-30%),Very rare (<4-1%) HP:0000639
29 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
30 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
31 widely spaced teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000687
32 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
33 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
34 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
35 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
36 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
37 webbed neck 58 31 frequent (33%) Frequent (79-30%) HP:0000465
38 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
39 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
40 preauricular pit 58 31 frequent (33%) Frequent (79-30%) HP:0004467
41 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
42 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
43 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
44 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
45 pulmonic stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001642
46 abnormality of the pulmonary artery 58 31 frequent (33%) Frequent (79-30%) HP:0004414
47 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
48 microcornea 58 31 frequent (33%) Frequent (79-30%) HP:0000482
49 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
50 microtia, second degree 58 31 frequent (33%) Frequent (79-30%) HP:0008569
51 developmental glaucoma 31 frequent (33%) HP:0001087
52 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
53 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
54 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
55 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
56 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
57 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
58 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
59 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
60 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
61 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
62 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
63 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
64 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
65 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
66 anterior hypopituitarism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000830
67 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
68 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
69 rhizomelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008905
70 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
71 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
72 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
73 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
74 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
75 clitoral hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000060
76 renal duplication 58 31 occasional (7.5%) Occasional (29-5%) HP:0000075
77 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
78 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
79 ureteral duplication 58 31 occasional (7.5%) Occasional (29-5%) HP:0000073
80 hypoplasia of the uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000013
81 congenital hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000851
82 intestinal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0100819
83 iris coloboma 31 occasional (7.5%) HP:0000612
84 strabismus 58 31 very rare (1%) Very rare (<4-1%) HP:0000486
85 hypoplastic left heart 58 31 very rare (1%) Very rare (<4-1%) HP:0004383
86 bicuspid pulmonary valve 58 31 very rare (1%) Very rare (<4-1%) HP:0005182
87 abnormal pulmonary vein morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0030968
88 intellectual disability, progressive 31 very rare (1%) HP:0006887
89 macrocephaly 31 HP:0000256
90 low-set ears 31 HP:0000369
91 pectus excavatum 31 HP:0000767
92 agenesis of corpus callosum 31 HP:0001274
93 seizures 31 HP:0001250
94 scoliosis 31 HP:0002650
95 ptosis 31 HP:0000508
96 hearing impairment 31 HP:0000365
97 short stature 58 Frequent (79-30%)
98 craniosynostosis 31 HP:0001363
99 ventricular septal defect 31 HP:0001629
100 short metacarpal 31 HP:0010049
101 abnormality of vision 58 Frequent (79-30%)
102 protruding ear 31 HP:0000411
103 opacification of the corneal stroma 58 Very frequent (99-80%)
104 short palm 31 HP:0004279
105 broad neck 31 HP:0000475
106 myopia 31 HP:0000545
107 atrial septal defect 31 HP:0001631
108 pes cavus 31 HP:0001761
109 joint laxity 31 HP:0001388
110 posteriorly rotated ears 31 HP:0000358
111 thin vermilion border 31 HP:0000233
112 hypoplasia of the maxilla 31 HP:0000327
113 biliary tract abnormality 31 HP:0001080
114 hemivertebrae 31 HP:0002937
115 limited elbow movement 31 HP:0002996
116 renal hypoplasia 31 HP:0000089
117 hypoplastic labia majora 31 HP:0000059
118 abnormality of pelvic girdle bone morphology 31 HP:0002644
119 disproportionate short-limb short stature 58 Very frequent (99-80%)
120 wide anterior fontanel 31 HP:0000260
121 anteriorly placed anus 31 HP:0001545
122 decreased body weight 31 HP:0004325
123 proximal placement of thumb 31 HP:0009623
124 stenosis of the external auditory canal 31 HP:0000402
125 conical incisor 31 HP:0011065
126 diastasis recti 31 HP:0001540
127 broad foot 31 HP:0001769
128 single transverse palmar crease 31 HP:0000954
129 broad palm 31 HP:0001169
130 cerebral atrophy 31 HP:0002059
131 iridoretinal coloboma 58 Occasional (29-5%)
132 syndactyly 31 HP:0001159
133 short metatarsal 31 HP:0010743
134 congenital glaucoma 58 Frequent (79-30%)
135 short lingual frenulum 31 HP:0000200
136 retinal coloboma 31 HP:0000480
137 hypoplasia of the vagina 31 HP:0008726
138 birth length less than 3rd percentile 31 HP:0003561
139 facial hypertrichosis 31 HP:0002219
140 square pelvis bone 31 HP:0003278
141 agenesis of maxillary lateral incisor 31 HP:0000690
142 bilobate gallbladder 31 HP:0005608

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
preauricular pit
hearing loss
small posteriorly rotated ears

Head And Neck Eyes:
cataract
glaucoma
peters anomaly
retinal coloboma
upslanting palpebral fissures
more
Skeletal Hands:
brachydactyly
fifth finger clinodactyly
broad hands

Head And Neck Face:
micrognathia
prominent forehead
long philtrum
long face
maxillary hypoplasia

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Cardiovascular Vascular:
patent ductus arteriosus

Abdomen Gastrointestinal:
anteriorly placed anus
feeding problems
gastrointestinal malrotation

Skeletal Limbs:
rhizomelic shortening

Chest Breasts:
widely spaced nipples

Growth Weight:
low birthweight

Head And Neck Neck:
short neck

Head And Neck Teeth:
widely spaced teeth

Growth Height:
short stature

Cardiovascular Heart:
ventricular septal defect
atrial septal defect
pulmonary stenosis
cardiac anomaly

Head And Neck Mouth:
cleft palate
thin vermilion border
cleft lip
cupid-bow shaped upper lip

Growth Other:
postnatal growth retardation
intrauterine growth restriction (iugr)

Neurologic Central Nervous System:
developmental delay
enlarged ventricles
corpus callosum hypoplasia or agenesis

Skeletal Feet:
short feet
broad feet
short toes

Genitourinary Kidneys:
small kidneys
renal anomaly
hyperechoic kidneys
edematous kidneys

Clinical features from OMIM:

261540

UMLS symptoms related to Peters-Plus Syndrome:


seizures

GenomeRNAi Phenotypes related to Peters-Plus Syndrome according to GeneCards Suite gene sharing:

26 (showing 7, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-4 10.09 THBS1
2 Decreased viability GR00240-S-1 10.09 ADAMTS17 SPON1
3 Decreased viability GR00381-A-1 10.09 ADAMTS10 ADAMTS17
4 Decreased viability GR00381-A-2 10.09 ADAMTS17
5 Decreased viability GR00381-A-3 10.09 ADAMTS17
6 Decreased viability GR00402-S-2 10.09 ADAMTS10 ADAMTS17 ADAMTS20 ADAMTS9 ADAMTSL1 ADAMTSL2
7 no effect GR00402-S-1 9.62 ADAMTS10 ADAMTS17 ADAMTS20 ADAMTS9 ADAMTSL1 ADAMTSL2

MGI Mouse Phenotypes related to Peters-Plus Syndrome:

45 (showing 5, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.92 ADAMTS10 ADAMTS20 ADAMTS9 ADAMTSL4 FOXC1 PAX6
2 limbs/digits/tail MP:0005371 9.86 ADAMTS20 ADAMTS9 ADAMTSL2 ADAMTSL5 FOXC1 PITX2
3 pigmentation MP:0001186 9.7 ADAMTS20 ADAMTS9 ADAMTSL4 FOXC1 PAX6 PITX2
4 skeleton MP:0005390 9.65 ADAMTS10 ADAMTSL2 ADAMTSL5 CFP FOXC1 PAX6
5 vision/eye MP:0005391 9.28 ADAMTS10 ADAMTS9 ADAMTSL4 CYP1B1 FOXC1 PAX6

Drugs & Therapeutics for Peters-Plus Syndrome

Search Clinical Trials , NIH Clinical Center for Peters-Plus Syndrome

Cochrane evidence based reviews: peters anomaly

Genetic Tests for Peters-Plus Syndrome

Genetic tests related to Peters-Plus Syndrome:

# Genetic test Affiliating Genes
1 Irido-Corneo-Trabecular Dysgenesis 29 PAX6
2 Peters Plus Syndrome 29 B3GLCT

Anatomical Context for Peters-Plus Syndrome

MalaCards organs/tissues related to Peters-Plus Syndrome:

40
Eye, Kidney, Heart, Bone, Skin, Uterus, Endothelial

Publications for Peters-Plus Syndrome

Articles related to Peters-Plus Syndrome:

(showing 360, show less)
# Title Authors PMID Year
1
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. 61 24 56 6
16909395 2006
2
Novel B3GALTL mutation in Peters-plus Syndrome. 61 56 6
19796186 2009
3
Mutation analysis of B3GALTL in Peters Plus syndrome. 61 56 6
18798333 2008
4
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. 61 56 6
18199743 2008
5
The Peters' plus syndrome: a review. 61 24 56
12119218 2002
6
Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome. 61 24 56
1887847 1991
7
Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance. 61 24 56
1856836 1991
8
Peters'-plus: a new syndrome. 61 24 56
6443615 1984
9
Peters Plus Syndrome 61 6
20301637 2007
10
Japanese girl with Krause-van Schooneveld-Kivlin syndrome: Peters anomaly with short-limb dwarfism: Peter-Plus syndrome. 61 56
1481836 1992
11
Peters' anomaly as a consequence of genetic and nongenetic syndromes. 61 56
3079999 1986
12
[Long-term prognosis of Peters anomaly]. 61 24
28484852 2018
13
8q21.11 microdeletion in two patients with syndromic peters anomaly. 61 24
27378168 2016
14
Whole exome sequence analysis of Peters anomaly. 61 24
25182519 2014
15
An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene. 61 24
24427506 2013
16
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. 61 24
23161355 2013
17
A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. 61 24
19610101 2009
18
Long-term visual prognosis in children after corneal transplant surgery for Peters anomaly type I. 61 24
17601429 2007
19
Congenital hypothyroidism in Peters plus syndrome. 61 24
16754209 2006
20
Prenatal sonographic findings in Peters-plus syndrome. 61 24
15912477 2005
21
Growth hormone deficiency (GHD): a new association in Peters' Plus Syndrome (PPS). 61 24
14735587 2004
22
Surgical management of glaucoma in infants and children with Peters' anomaly: long-term structural and functional outcome. 61 24
14711722 2004
23
Severe presentation of Peters'-Plus syndrome. 61 24
7894743 1994
24
The Peters'-Plus syndrome: description of 16 patients and review of the literature. 61 24
7508316 1993
25
Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder? 61 24
7508317 1993
26
A child with sclerocornea, short limbs, short stature, and distinct facial appearance. 56
3055984 1988
27
Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies. 56
3189394 1988
28
A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly. 54 61
20405024 2010
29
Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population. 54 61
20151268 2010
30
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. 54 61
18498376 2008
31
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities. 54 61
17417613 2007
32
Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats. 24
17032646 2006
33
Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain. 24
16899492 2006
34
Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma. 54 61
16638984 2006
35
Further support of the role of CYP1B1 in patients with Peters anomaly. 54 61
16735991 2006
36
Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. 24
15654696 2005
37
A compound heterozygous change found in Peters' anomaly. 54 61
15682044 2005
38
A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly. 54 61
15090434 2004
39
A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts. 24
12943678 2003
40
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 54 61
12721955 2003
41
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. 54 61
12614756 2003
42
PAX6 mutation as a genetic factor common to aniridia and glucose intolerance. 54 61
11756345 2002
43
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 54 61
11309364 2001
44
A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia. 54 61
10955655 2000
45
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. 54 61
10441571 1999
46
A mutation in the RIEG1 gene associated with Peters' anomaly. 54 61
10051017 1999
47
Reciprocal effect of Waardenburg syndrome mutations on DNA binding by the Pax-3 paired domain and homeodomain. 54 61
9302254 1997
48
Mutation of the PAX6 gene in patients with autosomal dominant keratitis. 54 61
7668281 1995
49
Patterning of the Caenorhabditis elegans head region by the Pax-6 family member vab-3. 54 61
7659159 1995
50
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. 54 61
8162071 1994
51
Analyzing the Effects of O-Fucosylation on Secretion of ADAMTS Proteins Using Cell-Based Assays. 61
31463900 2020
52
Clinicopathologic Features and Treatment Characteristics of Congenital Corneal Opacity Infants and Children Aged 3 Years or Less: A Retrospective Single Institution Analysis. 61
31247621 2020
53
Glaucoma and Cornea Surgery Outcomes in Peters Anomaly. 61
31470000 2019
54
ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome. 61
31600785 2019
55
[Keratoplasty in children : Indications and results]. 61
31713069 2019
56
Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining. 61
31795264 2019
57
Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes. 61
31529323 2019
58
XEN-augmented Baerveldt Implantation for Refractory Childhood Glaucoma: A Retrospective Case Series. 61
31460883 2019
59
A rare case of type 1 unilateral 'peripheral' Peters' anomaly. 61
31546519 2019
60
Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. 61
31650526 2019
61
Correlation between age and corneal edema in pediatric patients with Peters anomaly. 61
30535965 2019
62
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. 61
31053785 2019
63
Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis. 61
30242500 2019
64
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. 61
31327510 2019
65
Terminology of Peters' anomaly variants: Summary of histopathological findings in 6 corneas and detailed clinicopathological correlation in 2 cases. 61
31686970 2019
66
[Glaucoma Surgery in Anterior Segment Dysgeneses]. 61
31049915 2019
67
Congenital eye anomalies: More mosaic than thought? 61
30039880 2019
68
Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies. 61
31081795 2019
69
Primary descemetorhexis without graft placement for type 1 Peters anomaly. 61
30975359 2019
70
[Clinical and Genetic Characteristics of Ocular Developmental Disorders: MAC-Spectrum, Anterior Segment Dysgenesis]. 61
30736081 2019
71
Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies. 61
31476172 2019
72
Prenatal detection of Peters plus-like syndrome. 61
30693145 2018
73
Systemic Associations of Childhood Glaucoma: A Review. 61
30452766 2018
74
Shallowing of the Anterior Chamber During Optical Iridectomy for Peters Anomaly. 61
30054601 2018
75
Outcome of optical iridectomy in Peters anomaly. 61
29705837 2018
76
Pediatric Corneal Transplants: Review of Current Practice Patterns. 61
29746327 2018
77
Identification of PITX3 mutations in individuals with various ocular developmental defects. 61
29405783 2018
78
[Bilateral Peters anomaly without glaucoma]. 61
29655577 2018
79
Selective Endothelial Removal for Peters Anomaly. 61
29408830 2018
80
Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis. 61
29305299 2018
81
Bilateral anterior segment dysgenesis with the presumed Peters' anomaly in a cat. 61
29249729 2018
82
Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature. 61
27929720 2018
83
Correlation Between Clinical Examination and Diagnostic Imaging in Type II Peters Anomaly. 61
29156078 2017
84
Outcomes of Ahmed Glaucoma Valve Revision in Pediatric Glaucoma. 61
28918060 2017
85
Peters anomaly in PHACE syndrome. 61
28713056 2017
86
Congenital anterior staphyloma associated with Peters' anomaly and aphakia in a Holstein calf. 61
28529272 2017
87
Optimising keratoplasty for Peters' anomaly in infants using spectral-domain optical coherence tomography. 61
27660330 2017
88
Giant Ocular Horn Occurring in a 10-Year-Old Female. 61
26882056 2017
89
Long-Term Clinical Course in Eyes With Peters Anomaly. 61
28207433 2017
90
Combined vitrectomy and glaucoma drainage device implantation surgical approach for complex pediatric glaucomas. 61
28254440 2017
91
A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome. 61
28611552 2017
92
A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly. 61
28154792 2017
93
Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesia. 61
27230591 2017
94
Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. 61
28926587 2017
95
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report. 61
27217304 2016
96
Mobile Retrolental Cyst in a Child With Peters Plus Syndrome. 61
27737454 2016
97
Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome. 61
27687499 2016
98
Peters Anomaly in Twins: A Case Report of a Rare Incident with Novel Comorbidities. 61
27843434 2016
99
Clinical utility gene card for: Peters plus syndrome. 61
27049305 2016
100
RNA-binding proteins in eye development and disease: implication of conserved RNA granule components. 61
27133484 2016
101
Long-Term Corneal Endothelial Cell Counts After Penetrating Keratoplasty in Infants. 61
27055216 2016
102
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. 61
27218149 2016
103
Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis. 61
26684045 2016
104
[Evaluation of Iris Morphology Viewed through Stromal Edematous Corneas by Infrared Camera]. 61
26987209 2016
105
Pathological and Immunohistochemical Alterations of the Cornea in Congenital Corneal Opacification Secondary to Primary Congenital Glaucoma and Peters Anomaly. 61
26684044 2016
106
Peters plus anomaly in a Cameroonian child: a case report. 61
27789975 2016
107
Anterior segment dysgenesis correlation with epithelial-mesenchymal transition in Smad4 knockout mice. 61
27500098 2016
108
Prenatal Detection of Peters' Plus Syndrome in a Patient with No Known Family History. 61
27430178 2016
109
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. 61
27777502 2016
110
Accuracy of Intraocular Pressure Measurement With the Icare Tonometer in Children. 61
26716432 2015
111
Image-guided femtosecond laser-assisted cataract surgery in Peters anomaly type 2. 61
26703482 2015
112
A novel histopathologic finding in the Descemet's membrane of a patient with Peters Anomaly: a case-report and literature review. 61
26496717 2015
113
Deficiency of the RNA binding protein caprin2 causes lens defects and features of Peters anomaly. 61
26177727 2015
114
Genetics of Congenital Corneal Opacification--Impact on Diagnosis and Treatment. 61
26352876 2015
115
Ultrasound evaluation of glaucoma drainage devices in children. 61
25907830 2015
116
Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family. 61
25687215 2015
117
Peters anomaly in cri-du-chat syndrome. 61
26059676 2015
118
Peters Anomaly. 61
26711294 2015
119
A Case of WAGR Syndrome with Peters' Anomaly. 61
25902081 2015
120
A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1. 61
24024747 2015
121
Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism. 61
25544610 2015
122
Incidence of peters anomaly and congenital opacity. 61
25474236 2015
123
Cataract surgery in children with congenital keratolenticular adhesion (Peters anomaly type 2). 61
25727582 2015
124
Molecular description of eye defects in the zebrafish Pax6b mutant, sunrise, reveals a Pax6b-dependent genetic network in the developing anterior chamber. 61
25692557 2015
125
[Ultrasound biomicroscopy in infants with congenital corneal opacity and its correlations with clinical diagnosis and intraocular pressure]. 61
25731046 2015
126
Pediatric genetic disease of the cornea. 61
27625877 2014
127
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. 61
24628545 2014
128
Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome. 61
25291437 2014
129
Intravitreal injection of bevacizumab for retinopathy of prematurity in an infant with peters anomaly. 61
25408672 2014
130
Peters anomaly in a red kangaroo (Macropus rufus). 61
25314851 2014
131
Incidence of Peters anomaly and congenital corneal opacities interfering with vision in the United States. 61
24977984 2014
132
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. 61
23889335 2014
133
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. 61
24281366 2014
134
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. 61
24664804 2014
135
Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature. 61
24885071 2014
136
Peters' anomaly imaged with an infrared anterior segment camera. 61
23927449 2014
137
Defining success in infant penetrating keratoplasty for developmental corneal opacities. 61
25313116 2014
138
First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome. 61
23954224 2013
139
Clinical outcome of penetrating keratoplasty in patients 5 years or younger: peters anomaly versus sclerocornea. 61
24104853 2013
140
Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers. 61
23920006 2013
141
Three cases with unusual ophthalmic phenotypes of congenital aniridia. 61
23931477 2013
142
Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs. 61
23217015 2013
143
[Keratoplasty in children--still a dilemma]. 61
23794428 2013
144
Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy. 61
23710497 2013
145
Long-term visual outcomes of penetrating keratoplasty for Peters anomaly. 61
23052716 2013
146
Spontaneous corneal perforation in an eye with Peters' anomaly. 61
23990702 2013
147
Cataract surgery for tilted lens in peters' anomaly type 2. 61
24163681 2013
148
Peters' anomaly. 61
23650461 2013
149
Prenatal diagnosis of fetal peters' plus syndrome: a case report. 61
23984120 2013
150
A simple and easy method using rigid endoscope to detect iridocorneal and keratolenticular adhesions in peters' anomaly. 61
24348409 2013
151
Anterior segment optical coherence tomography in congenital corneal opacities. 61
22959105 2012
152
Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure. 61
22759511 2012
153
Posterior lamellar keratoplasty (DSAEK) in Peters anomaly. 61
22790185 2012
154
Long-term clinical course and visual outcome associated with Peters' anomaly. 61
22744393 2012
155
A new approach to the classification of neonatal corneal opacities. 61
22871880 2012
156
Loss of Msx2 function down-regulates the FoxE3 expression and results in anterior segment dysgenesis resembling Peters anomaly. 61
22503753 2012
157
Clinical features of anterior segment dysgenesis associated with congenital corneal opacities. 61
22157569 2012
158
Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report. 61
22251706 2012
159
Absence of NR2E1 mutations in patients with aniridia. 61
23213277 2012
160
Analysis of FOXD3 sequence variation in human ocular disease. 61
22815627 2012
161
Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients. 61
21904390 2011
162
Should unilateral congenital corneal opacities in Peters' anomaly be grafted? 61
21298629 2011
163
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. 61
21671750 2011
164
Unilateral Peters' anomaly with chorioretinal coloboma in the other eye. 61
21976945 2011
165
CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited. 61
21600657 2011
166
Peters anomaly: review of the literature. 61
21448066 2011
167
The Peters anomaly following antenatal exposure to methotrexate and hydroxychloroquine. 61
21784221 2011
168
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. 61
21150893 2011
169
The outcome of corneal transplantation in infants, children, and adolescents. 61
20932584 2011
170
Cerebrovasculopathy in NF1 associated with ocular and scalp defects. 61
21271658 2011
171
A case of aniridia with unilateral Peters anomaly. 61
21397818 2011
172
Chromosome abnormalities and the genetics of congenital corneal opacification. 61
21738392 2011
173
Histopathological features in a case of peters' anomaly with acquired corneal staphyloma. 61
22606460 2011
174
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly. 61
21067481 2010
175
Atypical Peters plus syndrome with new associations. 61
21168087 2010
176
Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome. 61
20584037 2010
177
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A. 61
21031080 2010
178
A girl with Peters plus syndrome associated with myelomeningocele and chronic renal failure. 61
20424881 2010
179
Unilateral retinoblastoma in an eye with Peters anomaly. 61
20451864 2010
180
Atypical Peters plus syndrome with new associations. 61
20451863 2010
181
Congenital polymicrogyria including the perisylvian region in early childhood. 61
20201970 2010
182
[Exploration of the molecular mechanism of ocular development and the creation of animal models for ocular diseases]. 61
20387539 2010
183
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. 61
19461663 2010
184
[Intensive intracorneal keloid formation in a case of Peters plus syndrome and in Peters anomaly with maximum manifestation]. 61
19756642 2010
185
[Mendelian molecular genetics in glaucoma]. 61
21137185 2010
186
Classic galactosemia presenting with unilateral Peters' anomaly. 61
20516712 2010
187
Vitreoretinal dysplasia masquerading as Peters' anomaly. 61
19882524 2010
188
Ocular abnormalities in mice lacking the immunoglobulin superfamily member Cdo. 61
19754878 2009
189
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. 61
19708017 2009
190
Primary pediatric keratoplasty: indications and outcomes. 61
19724212 2009
191
Histopathological characterisation of effects of the mouse Pax6(Leca4) missense mutation on eye development. 61
19345209 2009
192
Peters' anomaly - anaesthetic management. 61
20640218 2009
193
Heparan sulfate deficiency leads to Peters anomaly in mice by disturbing neural crest TGF-beta2 signaling. 61
19509472 2009
194
Complications and 2-year valve survival following Ahmed valve implantation during the first 2 years of life. 61
19174395 2009
195
Long-term visual outcome of penetrating keratoplasty in infants and children with Peters anomaly. 61
19393517 2009
196
A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum. 61
18616618 2009
197
Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome? 61
19161143 2009
198
Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats. 61
18720094 2009
199
Peters plus syndrome and absence of kidney: a case report. 61
19118497 2009
200
Pupillary block in Peters' anomaly. 61
19089575 2008
201
Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome. 61
18978663 2008
202
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome). 61
18922146 2008
203
Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis. 61
18653562 2008
204
[Nasal dermoid sinus cyst: accidental coincidence or syndrome association?]. 61
18401812 2008
205
Private inherited microdeletion/microduplications: implications in clinical practice. 61
18657637 2008
206
Outcome of penetrating keratoplasty for Peters anomaly. 61
18650657 2008
207
Arthrogryposis in association with Peters' anomaly. 61
18541963 2008
208
Corneal pathology in microphthalmia with linear skin defects syndrome. 61
18580270 2008
209
Anterior segment dysgenesis in the eyes of mice deficient for the high-mobility-group transcription factor Sox11. 61
18423449 2008
210
Peters plus syndrome. 61
18759095 2008
211
Pax6 3' deletion results in aniridia, autism and mental retardation. 54
18322702 2008
212
Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. 61
18989383 2008
213
Role of CYP1B1 in glaucoma. 61
17914928 2008
214
Anterior segment dysgenesis: Peters anomaly and sclerocornea. 61
18427259 2008
215
Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. 61
17994562 2007
216
Congenital corneal opacities - a surgical approach to nomenclature and classification. 61
17914436 2007
217
Congenital corneal opacities: a review with a focus on genetics. 61
18097987 2007
218
Anterior segment dysgenesis after overexpression of transforming growth factor-beta-induced gene, beta igh3, in the mouse eye. 61
17982418 2007
219
Ultrastructure of anterior lens capsule in Peters' plus syndrome. 61
17293788 2007
220
[Keratoplasy for Peters anomaly (clinical case)]. 61
17894288 2007
221
Newborn with bilateral hazy corneas. 61
17894284 2007
222
Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). 61
17106362 2006
223
[Nasal dermoid and sinus cysts in patients with cleft malformations]. 61
16983546 2006
224
Neuhauser syndrome and Peters' anomaly. 61
16957485 2006
225
Ocular abnormalities in mice lacking the Ski proto-oncogene. 61
17003410 2006
226
Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion. 61
16754208 2006
227
Strabismus and amblyopia in bilateral Peters anomaly. 61
16814168 2006
228
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 61
15894594 2005
229
Unilateral Peters' anomaly in a patient with DiGeorge syndrome. 61
16250223 2005
230
The indications and outcome of paediatric corneal transplantation in New Zealand: 1991-2003. 61
15774913 2005
231
[The autologous ipsilateral rotating penetrating keratoplasty: an early surgical procedure to prevent deep irreversible amblyopia in Peters anomaly]. 61
15678402 2005
232
Corneal transplants for the treatment of congenital corneal opacities. 61
15724897 2005
233
Corneal perforation with secondary congenital aphakia in Peters anomaly. 61
15604880 2005
234
Molecular basis of Peters anomaly in Saudi Arabia. 61
15621878 2004
235
Congenital corneal opacities in a cornea referral practice. 61
15256994 2004
236
Peters' anomaly with bilateral perisylvian polymicrogyria and abdominal calcification. 61
15198724 2004
237
Peters' anomaly. 61
15370547 2004
238
Visual impairment and ocular abnormalities in children with fetal alcohol syndrome. 61
15223541 2004
239
Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases. 61
15057935 2004
240
Cornea with Peters' anomaly: perturbed differentiation of corneal cells and abnormal extracellular matrix in the corneal stroma. 61
12842198 2003
241
Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly. 61
12706107 2003
242
Corneoscleral transplantation in congenital corneal staphyloma and Peters' anomaly. 61
12660867 2003
243
Misspelling of Peters anomaly. 61
12566051 2003
244
Exposure-disease continuum for 2-chloro-2'-deoxyadenosine, a prototype ocular teratogen. 3. Intervention with PK11195. 61
12769506 2003
245
[Formation of congenital defects during ocular development. II. Genetic background of oculogenesis and developmental birth defects]. 61
14552188 2003
246
Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities. 61
12351165 2002
247
Molecular genetics of primary congenital glaucoma in Brazil. 61
12036985 2002
248
Foxe3 haploinsufficiency in mice: a model for Peters' anomaly. 61
11980846 2002
249
Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. 54
11805525 2002
250
Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy. 61
11801506 2002
251
Possible new syndrome of microcephaly with cortical migration defects, Peters anomaly and multiple intestinal atresias: a multiple vascular disruption syndrome. 61
11822709 2002
252
Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. 61
11734512 2001
253
A case of Peters' anomaly in a springer spaniel. 61
11798251 2001
254
Neonatal corneal opacity: a case study of Peters' anomaly. 61
12144118 2001
255
Peters' anomaly. A synopsis of surgical management and visual outcome. 61
11705147 2001
256
Colo-colic intussusception in an infant with pneumatosis. 61
11486803 2001
257
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. 61
11403040 2001
258
Ophthalmic drops causing coma in an infant. 61
11241061 2001
259
The ateliotic macula: a newly recognized developmental anomaly. 61
11797324 2001
260
[Krause-Kivlin syndrome(Krause-Van Schooneveld-Kivlin syndrome, Peters-plus syndrome)]. 61
11528912 2001
261
[Dwarfism (short limbed)--Peters anomaly of the eye]. 61
11462576 2001
262
Ocular and systemic features of Peters' anomaly. 61
11127570 2000
263
The epidemiology of pediatric glaucoma: the Toronto experience. 61
10532577 1999
264
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 61
10406670 1999
265
Autosomal dominant cataracts and Peters anomaly in a large Australian family. 61
10361984 1999
266
Combined trabeculotomy and trabeculectomy as an initial procedure in uncomplicated congenital glaucoma. 61
10206572 1999
267
Long-term results of corneal graft survival in infants and children with peters anomaly. 61
10201611 1999
268
Unilateral Peters' anomaly complicated by a corneal tattoo. 61
9778695 1998
269
Peters anomaly. 61
9709739 1998
270
Peters' anomaly associated with protruding corneal pseudo staphyloma. 61
9520192 1998
271
A new set of primers for mutation analysis of the human PAX6 gene. 61
9671274 1998
272
PAX6 mutations reviewed. 54
9482572 1998
273
PAX 6 is normal in most cases of Peters' anomaly. 61
9683959 1998
274
Transplantation of congenitally opaque corneas. 61
9497466 1997
275
Congenital aphakia in Peters' anomaly syndrome. A case report. 61
9469564 1997
276
Corneal transplantation in children with Peters anomaly and mesenchymal dysgenesis. Multicenter Pediatric Keratoplasty Study. 61
9331194 1997
277
Functional analysis of paired box missense mutations in the PAX6 gene. 61
9147640 1997
278
Fucosidosis: genetic and biochemical analysis of eight cases. 61
9039984 1997
279
[Optical sector iridectomy: an alternative to perforating keratoplasty in Peters' anomaly]. 61
8992071 1996
280
[Histochemical studies on two cases of Peters' anomaly]. 61
8712080 1996
281
Peters' anomaly. 61
8759279 1996
282
Keratoplasty in newborns with Peters' anomaly. 61
8646177 1996
283
Genetic aspects of embryonic eye development in vertebrates. 54
8631154 1996
284
Corneal coloboma, aphakia and retinal neovascularization with anterior segment dysgenesis (Peters' anomaly). 61
8887396 1996
285
Atypical Peters' anomaly associated with partial trisomy 5p. 61
7573322 1995
286
Mitomycin as adjunct chemotherapy with trabeculectomy in congenital and developmental glaucomas. 61
19920661 1995
287
Bilateral diffuse iris nodular nevi. Clinical and histopathologic characterization. 61
7891979 1995
288
Two unrelated children with developmental delay, short stature and anterior chamber cleavage disorder, cerebellar hypoplasia, endocrine disturbances and tracheostenosis: a new entity? 61
7537583 1995
289
Peters'-Plus syndrome: report on an unusual case. 61
7617402 1994
290
Peters' anomaly. 61
8196928 1994
291
Visual outcome after surgery for Peters' anomaly. 61
7953250 1994
292
Ocular findings in Walker-Warburg syndrome. 61
8306359 1993
293
Bilateral penetrating keratoplasty and placement of a Molteno implant in a newborn with Peters' anomaly. 61
8299053 1993
294
Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance. 61
8305962 1993
295
Peters' plus syndrome. 61
8368243 1993
296
Good visual result following early penetrating keratoplasty for Peters' anomaly. 61
8501613 1993
297
Agenesis of Bowman's layer. A histopathological study of four cases. 61
8500325 1993
298
Brachymesomelia and Peters anomaly: a new syndrome. 61
8465841 1993
299
Peters' anomaly: a review of 26 penetrating keratoplasties in infants. 61
8446330 1993
300
Peters' anomaly and associated congenital malformations. 61
1463415 1992
301
Peters' anomaly: a clinicopathologic study. 61
1287176 1992
302
Multiple congenital contractures (arthrogryposis) in association with Peters' anomaly and chorioretinal colobomata. 61
1287175 1992
303
Oculoauricular dysplasia syndrome of Goldenhar and Peters' anomaly: a new association. 61
1287178 1992
304
[Mesodermal dysgenesis of the anterior segment]. 61
1420131 1992
305
Dominant syndrome with isolated cryptophthalmos and ocular anomalies. 61
1642262 1992
306
Peters' anomaly and combination with other malformations (series of 16 patients). 61
1495763 1992
307
Peters' anomaly. The spectrum of associated ocular and systemic malformations. 61
1495764 1992
308
Mooren's ulcer and evidence of stromal graft rejection after penetrating keratoplasty. 61
1558115 1992
309
Unilateral congenital corneal staphyloma with retinal neovascularization. A case report. 61
1505761 1992
310
Molteno implants in children. 61
18079648 1992
311
[Eye manifestations of fetal alcohol syndrome]. 61
1583839 1992
312
[Developmental mechanisms of congenital eye abnormalities]. 61
1776602 1991
313
Heterogeneity in dominant anterior segment malformations. 61
1954207 1991
314
Ocular manifestations in fetal alcohol syndrome. 61
1911652 1991
315
[Two cases of posterior keratoconus]. 61
1872224 1991
316
Peters' anomaly: an unusual case. 61
1881651 1991
317
Glaucoma and Peters' anomaly. A clinicopathologic case report. 61
1869067 1991
318
Interstitial deletion 2q14q21. 61
2624255 1989
319
Immunohistochemical studies of Peters' anomaly. 61
2671851 1989
320
Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn). 61
2787011 1989
321
Variable expressivity of autosomal dominant microcornea with cataract. 61
3355418 1988
322
Keratolenticular dysgenesis (Peters' anomaly) as a result of acute embryonic insult during gastrulation. 61
3162748 1988
323
Abnormal presentation of Peters' anomaly. 61
3253203 1988
324
Peters' anomaly in a father and son. 61
3674191 1987
325
Corneal perforation at birth secondary to Peters' anomaly. 61
3115108 1987
326
Congenital cataract with microcornea and Peters' anomaly as expressions of one autosomal dominant gene. 61
3550563 1986
327
Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review. 61
3096371 1986
328
Peters' anomaly and systemic defects. 61
3741236 1986
329
[Peters' anomaly with developmental changes in the iris of the other eye]. 61
3773426 1986
330
Peters' anomaly in association with ring 21 chromosomal abnormality. 61
4061557 1985
331
Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly. 61
4069583 1985
332
Congenital corneal opacity (Peters' anomaly) combined with buphthalmos and aniridia. 61
3934622 1985
333
Three siblings with Peters' anomaly. 61
3934621 1985
334
Surgery for Peters' anomaly. 61
4018358 1985
335
Classification of corneal endothelial disorders based on neural crest origin. 61
6462621 1984
336
Peters' anomaly associated with partial deletion of the long arm of chromosome 11. 61
6696011 1984
337
[Peters' anomaly]. 61
6417396 1983
338
Wound healing of grafts in congenitally opaque infant corneas. 61
6342399 1983
339
Pathologic features of the eye in trisomy 9. 61
6809924 1982
340
The corneal endothelium. Normal and pathologic structure and function. 61
7122038 1982
341
Fetal alcohol syndrome. 61
7264859 1981
342
Unusual eye abnormalities associated with congenital cytomegalovirus infection. 61
6253868 1980
343
Primary mesodermal dysgenesis of the cornea (Peters' anomaly) in two brothers. 61
511153 1979
344
Scanning electron microscopy of congenital corneal leukomas (Peters' anomaly). 61
474688 1979
345
[Congenital leukomas with anomalies of the lens migration (author's transl)]. 61
152777 1978
346
Peters' anomaly: dominant inheritance in one pedigree and dextrocardia in another. 61
105120 1978
347
[Familiary arhinia combined with peters' anomaly and maxilliar deformities, a new malformation syndrome (author's transl)]. 61
672092 1978
348
Peripheral Peters' anomaly: a histopathologic case report. 61
310874 1978
349
Successful lens removal in congenital corneolenticular adhesion (Peters' anomaly). 61
868955 1977
350
[Ipsilateral rotational autokeratoplasty (author's transl)]. 61
864996 1977
351
Peters' anomaly with the fetal transfusion syndrome. 61
1047616 1976
352
[Peters' anomaly]. 61
133406 1976
353
Congenital central corneal leukoma (Peters' anomaly). 61
1251879 1976
354
Peters anomaly with pulmonary hypoplasia. 61
953221 1976
355
The histopathology of Peters' anomaly. 61
1180307 1975
356
Dysgenesis mesodermalis of the cornea (Peters' anomaly) associated with cleft lip and palate. 61
1147511 1975
357
[Case of Peters' anomaly in a newborn infant with secondary hydrophthalmia and spontaneous rupture of keratoconus in 1 eye]. 61
4727959 1973
358
Peters' anomaly and total posterior coloboma of retinal pigment epithelium and choroid. 61
4623873 1972
359
Anterior chamber cleavage syndrome. A typical case of Peters' anomaly with primary aphakia. 61
4631516 1972
360
The histopathology and ultrastructure of congenital, central corneal opacity (Peters' anomaly). 61
4938989 1971

Variations for Peters-Plus Syndrome

ClinVar genetic disease variations for Peters-Plus Syndrome:

6 (showing 233, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 B3GLCT NM_194318.4(B3GLCT):c.660+1G>ASNV Pathogenic 1264 rs80338851 13:31843415-31843415 13:31269278-31269278
2 B3GLCT NM_194318.4(B3GLCT):c.347+5G>ASNV Pathogenic 1265 rs80338850 13:31821241-31821241 13:31247104-31247104
3 B3GLCT NM_194318.4(B3GLCT):c.230dup (p.Leu77fs)duplication Pathogenic 1267 13:31803389-31803390 13:31229252-31229253
4 B3GLCT NM_194318.4(B3GLCT):c.1178G>A (p.Gly393Glu)SNV Pathogenic 1268 rs267606675 13:31891816-31891816 13:31317679-31317679
5 PAX6 NM_000280.4(PAX6):c.607C>T (p.Arg203Ter)SNV Pathogenic 3466 rs121907916 11:31816253-31816253 11:31794705-31794705
6 PAX6 NM_000280.4(PAX6):c.718C>T (p.Arg240Ter)SNV Pathogenic 3467 rs121907917 11:31815627-31815627 11:31794079-31794079
7 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter)SNV Pathogenic 7737 rs72549387 2:38302361-38302361 2:38075218-38075218
8 B3GLCT NM_194318.4(B3GLCT):c.1098T>A (p.Tyr366Ter)SNV Pathogenic 21865 rs80338852 13:31891736-31891736 13:31317599-31317599
9 CYP1B1 NM_000104.3(CYP1B1):c.1200_1209dup (p.Thr404fs)duplication Pathogenic 68466 rs587778873 2:38298287-38298288 2:38071144-38071145
10 PAX6 NM_000280.4(PAX6):c.152G>T (p.Gly51Val)SNV Pathogenic 68469 rs587778874 11:31823314-31823314 11:31801766-31801766
11 PAX6 NM_000280.4(PAX6):c.357+1G>ASNV Pathogenic 92758 rs398123295 11:31823108-31823108 11:31801560-31801560
12 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter)SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787
13 PAX6 NM_000280.4(PAX6):c.358delGdeletion Pathogenic 284286 rs886042838 11:31822404-31822404 11:31800856-31800856
14 PAX6 NM_000280.4(PAX6):c.949C>T (p.Arg317Ter)SNV Pathogenic 372444 rs1057517785 11:31815069-31815069 11:31793521-31793521
15 CYP1B1 NM_000104.3(CYP1B1):c.1063_1075del (p.Arg355fs)deletion Pathogenic 417858 rs1064792896 2:38298422-38298434 2:38071279-38071291
16 PAX6 NM_000280.4(PAX6):c.511C>T (p.Gln171Ter)SNV Pathogenic 430998 rs1131692308 11:31822251-31822251 11:31800703-31800703
17 PAX6 NM_000280.4(PAX6):c.403C>T (p.Gln135Ter)SNV Pathogenic 430994 rs1131692304 11:31822359-31822359 11:31800811-31800811
18 PAX6 NM_000280.4(PAX6):c.78del (p.Gln27fs)deletion Pathogenic 430974 rs1131692286 11:31824315-31824315 11:31802767-31802767
19 PAX6 NM_000280.4(PAX6):c.1A>C (p.Met1Leu)SNV Pathogenic 430972 rs1131692284 11:31827959-31827959 11:31806411-31806411
20 B3GLCT NM_194318.4(B3GLCT):c.459+1G>ASNV Pathogenic 449340 rs767361165 13:31822104-31822104 13:31247967-31247967
21 PAX6 NM_019040.5(ELP4):c.*6459_*6465deldeletion Pathogenic 460457 rs1554982299 11:31811530-31811536 11:31789982-31789988
22 PAX6 NM_000280.4(PAX6):c.495del (p.Thr166fs)deletion Pathogenic 460463 rs1554984996 11:31822267-31822267 11:31800719-31800719
23 PAX6 NM_000280.4(PAX6):c.470del (p.Gly157fs)deletion Pathogenic 460462 rs1554985024 11:31822292-31822292 11:31800744-31800744
24 PAX6 NM_000280.4(PAX6):c.120C>A (p.Cys40Ter)SNV Pathogenic 460456 rs1329112134 11:31824273-31824273 11:31802725-31802725
25 PAX6 NM_000280.4(PAX6):c.1060_1064dup (p.Cys356fs)duplication Pathogenic 460455 rs1554982609 11:31812376-31812377 11:31790828-31790829
26 PAX6 NM_000280.4(PAX6):c.357+4A>TSNV Pathogenic 460459 rs1554985282 11:31823105-31823105 11:31801557-31801557
27 PAX6 NC_000011.9:g.(?_31811482)_(31827959_?)deldeletion Pathogenic 529895 11:31811482-31827959 11:31789934-31806411
28 PAX6 NC_000011.9:g.(?_31811462)_(31816377_?)deldeletion Pathogenic 529893 11:31811462-31816377 11:31789914-31794829
29 PAX6 NM_000280.4(PAX6):c.536_537insC (p.Gln179fs)insertion Pathogenic 529891 rs1554983577 11:31816323-31816324 11:31794775-31794776
30 PAX6 NM_000280.4(PAX6):c.139C>T (p.Gln47Ter)SNV Pathogenic 529892 rs1554985716 11:31824254-31824254 11:31802706-31802706
31 PAX6 NC_000011.9:g.(?_31685945)_(31816377_?)deldeletion Pathogenic 584225 11:31685945-31816377 11:31664397-31794829
32 PAX6 NM_000280.4(PAX6):c.114dup (p.Pro39fs)duplication Pathogenic 567776 rs1565245598 11:31824278-31824279 11:31802730-31802731
33 PAX6 NM_001310160.1(PAX6):c.-680_-676delinsAACCindel Pathogenic 565950 rs1565245835 11:31824287-31824291 11:31802739-31802743
34 PAX6 NM_000280.4(PAX6):c.3G>A (p.Met1Ile)SNV Pathogenic 460461 rs1554986754 11:31827957-31827957 11:31806409-31806409
35 PAX6 NM_000280.4(PAX6):c.325G>T (p.Glu109Ter)SNV Pathogenic 492993 rs1554985305 11:31823141-31823141 11:31801593-31801593
36 PAX6 NC_000011.9:g.(?_31284590)_(32456911_?)deldeletion Pathogenic 583750 11:31284590-32456911
37 PAX6 NM_000280.4(PAX6):c.775dup (p.Ser259fs)duplication Pathogenic 665256 11:31815340-31815341 11:31793792-31793793
38 PAX6 NM_000280.4(PAX6):c.112del (p.Arg38fs)deletion Pathogenic 651977 11:31824281-31824281 11:31802733-31802733
39 PAX6 NM_001310160.1(PAX6):c.-747deldeletion Pathogenic 658913 11:31824358-31824358 11:31802810-31802810
40 PAX6 NC_000011.9:g.(?_31284590)_(31832374_?)deldeletion Pathogenic 647471 11:31284590-31832374
41 PAX6 NM_000280.4(PAX6):c.1183+5G>ASNV Pathogenic 658957 11:31812253-31812253 11:31790705-31790705
42 PAX6 NM_000280.4(PAX6):c.52G>C (p.Gly18Arg)SNV Pathogenic/Likely pathogenic 289849 rs886044289 11:31824341-31824341 11:31802793-31802793
43 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
44 PAX6 NC_000011.9:g.(?_31811462)_(31812428_?)deldeletion Likely pathogenic 529894 11:31811462-31812428 11:31789914-31790880
45 PAX6 NM_000280.4(PAX6):c.34G>C (p.Gly12Arg)SNV Conflicting interpretations of pathogenicity 578719 rs1565246499 11:31824359-31824359 11:31802811-31802811
46 B3GLCT NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile)SNV Conflicting interpretations of pathogenicity 425025 rs147485868 13:31897910-31897910 13:31323773-31323773
47 PTCH1 NM_001083602.2(PTCH1):c.2497A>G (p.Ile833Val)SNV Conflicting interpretations of pathogenicity 221968 rs765371196 9:98224146-98224146 9:95461864-95461864
48 PITX2 NM_000325.6(PITX2):c.639A>T (p.Ser213=)SNV Conflicting interpretations of pathogenicity 283383 rs141176394 4:111539617-111539617 4:110618461-110618461
49 PTCH1 NM_001083602.2(PTCH1):c.3749A>G (p.Tyr1250Cys)SNV Conflicting interpretations of pathogenicity 132723 rs147067171 9:98209591-98209591 9:95447309-95447309
50 CYP1B1 NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys)SNV Conflicting interpretations of pathogenicity, other 68467 rs57865060 2:38301847-38301847 2:38074704-38074704
51 FREM1 NM_144966.5(FREM1):c.1493G>A (p.Arg498Gln)SNV Conflicting interpretations of pathogenicity 30767 rs184394424 9:14842559-14842559 9:14842561-14842561
52 CYP1B1 NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His)SNV Conflicting interpretations of pathogenicity 7739 rs79204362 2:38298394-38298394 2:38071251-38071251
53 PAX6 NM_000280.4(PAX6):c.1137A>C (p.Thr379=)SNV Conflicting interpretations of pathogenicity 290049 rs143477661 11:31812304-31812304 11:31790756-31790756
54 CYP1B1 NM_000104.3(CYP1B1):c.1168C>T (p.Arg390Cys)SNV Conflicting interpretations of pathogenicity 335952 rs148542782 2:38298329-38298329 2:38071186-38071186
55 CYP1B1 NM_000104.3(CYP1B1):c.763C>T (p.Arg255Cys)SNV Uncertain significance 335954 rs886055998 2:38301769-38301769 2:38074626-38074626
56 CYP1B1 NM_000104.3(CYP1B1):c.-84T>CSNV Uncertain significance 335959 rs886055999 2:38303005-38303005 2:38075862-38075862
57 PITX2 NM_000325.6(PITX2):c.*572T>CSNV Uncertain significance 347289 rs886059003 4:111538709-111538709 4:110617553-110617553
58 PITX2 NM_000325.6(PITX2):c.*373_*375GTT[1]short repeat Uncertain significance 347292 rs886059004 4:111538903-111538905 4:110617747-110617749
59 CYP1B1 NM_000104.3(CYP1B1):c.*2349G>ASNV Uncertain significance 335912 rs9341268 2:38295516-38295516 2:38068373-38068373
60 CYP1B1 NM_000104.3(CYP1B1):c.*1895C>TSNV Uncertain significance 335919 rs886055990 2:38295970-38295970 2:38068827-38068827
61 CYP1B1 NM_000104.3(CYP1B1):c.*1491G>TSNV Uncertain significance 335924 rs562799717 2:38296374-38296374 2:38069231-38069231
62 CYP1B1 NM_000104.3(CYP1B1):c.*1269T>ASNV Uncertain significance 335927 rs570388762 2:38296596-38296596 2:38069453-38069453
63 CYP1B1 NM_000104.3(CYP1B1):c.*1027deldeletion Uncertain significance 335933 rs144188082 2:38296838-38296838 2:38069695-38069695
64 CYP1B1 NM_000104.3(CYP1B1):c.*2314dupduplication Uncertain significance 335914 rs561615550 2:38295550-38295551 2:38068407-38068408
65 CYP1B1 NM_000104.3(CYP1B1):c.*2158T>CSNV Uncertain significance 335916 rs112948057 2:38295707-38295707 2:38068564-38068564
66 CYP1B1 NM_000104.3(CYP1B1):c.*2151T>CSNV Uncertain significance 335917 rs886055989 2:38295714-38295714 2:38068571-38068571
67 CYP1B1 NM_000104.3(CYP1B1):c.*1450T>CSNV Uncertain significance 335926 rs886055993 2:38296415-38296415 2:38069272-38069272
68 CYP1B1 NM_000104.3(CYP1B1):c.*1173deldeletion Uncertain significance 335928 rs3834137 2:38296692-38296692 2:38069549-38069549
69 CYP1B1 NM_000104.3(CYP1B1):c.*661T>ASNV Uncertain significance 335940 rs886055995 2:38297204-38297204 2:38070061-38070061
70 CYP1B1 NM_000104.3(CYP1B1):c.*380G>ASNV Uncertain significance 335943 rs35007750 2:38297485-38297485 2:38070342-38070342
71 CYP1B1 NM_000104.3(CYP1B1):c.*118C>GSNV Uncertain significance 335946 rs1799885 2:38297747-38297747 2:38070604-38070604
72 PITX2 NM_000325.6(PITX2):c.*370G>CSNV Uncertain significance 347293 rs886059005 4:111538911-111538911 4:110617755-110617755
73 PITX2 NM_000325.6(PITX2):c.*264A>CSNV Uncertain significance 347295 rs886059006 4:111539017-111539017 4:110617861-110617861
74 PITX2 NM_000325.6(PITX2):c.412-11deldeletion Uncertain significance 347299 rs886059007 4:111539855-111539855 4:110618699-110618699
75 PITX2 NM_000325.6(PITX2):c.*611A>GSNV Uncertain significance 347288 rs886059002 4:111538670-111538670 4:110617514-110617514
76 PITX2 NM_000325.6(PITX2):c.*522T>CSNV Uncertain significance 347290 rs188349821 4:111538759-111538759 4:110617603-110617603
77 PITX2 NM_000325.6(PITX2):c.*119T>ASNV Uncertain significance 347297 rs765040142 4:111539162-111539162 4:110618006-110618006
78 PAX6 NM_019040.5(ELP4):c.*2334T>GSNV Uncertain significance 304299 rs886048183 11:31807406-31807406 11:31785858-31785858
79 PAX6 NM_019040.5(ELP4):c.*2407C>ASNV Uncertain significance 304300 rs886048184 11:31807479-31807479 11:31785931-31785931
80 PAX6 NM_019040.5(ELP4):c.*3703_*3705deldeletion Uncertain significance 304320 rs886048189 11:31808775-31808777 11:31787227-31787229
81 PAX6 NM_019040.5(ELP4):c.*4889G>ASNV Uncertain significance 304337 rs886048196 11:31809961-31809961 11:31788413-31788413
82 PAX6 NM_019040.5(ELP4):c.*5016T>GSNV Uncertain significance 304339 rs776894983 11:31810088-31810088 11:31788540-31788540
83 PAX6 NM_000280.4(PAX6):c.142-8C>TSNV Uncertain significance 304360 rs886048203 11:31823332-31823332 11:31801784-31801784
84 PAX6 NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTGindel Uncertain significance 304290 rs886048180 11:31806561-31806563 11:31785013-31785015
85 PAX6 NM_019040.5(ELP4):c.*2049A>GSNV Uncertain significance 304296 rs886048181 11:31807121-31807121 11:31785573-31785573
86 PAX6 NM_019040.5(ELP4):c.*2502G>ASNV Uncertain significance 304302 rs886048185 11:31807574-31807574 11:31786026-31786026
87 PAX6 NM_019040.5(ELP4):c.*4017A>GSNV Uncertain significance 304329 rs886048193 11:31809089-31809089 11:31787541-31787541
88 PAX6 NM_019040.5(ELP4):c.*4023C>ASNV Uncertain significance 304330 rs886048194 11:31809095-31809095 11:31787547-31787547
89 PAX6 NM_019040.5(ELP4):c.*4025C>GSNV Uncertain significance 304331 rs886048195 11:31809097-31809097 11:31787549-31787549
90 PAX6 NM_019040.5(ELP4):c.*3859G>ASNV Uncertain significance 304323 rs886048190 11:31808931-31808931 11:31787383-31787383
91 PAX6 NM_000280.4(PAX6):c.-368G>ASNV Uncertain significance 304366 rs886048206 11:31832714-31832714 11:31811166-31811166
92 PAX6 NM_000280.4(PAX6):c.-501deldeletion Uncertain significance 304368 rs886048208 11:31832847-31832847 11:31811299-31811299
93 PAX6 NM_019040.5(ELP4):c.*1877A>GSNV Uncertain significance 304294 rs745626044 11:31806949-31806949 11:31785401-31785401
94 PAX6 NM_019040.5(ELP4):c.*2282G>ASNV Uncertain significance 304298 rs886048182 11:31807354-31807354 11:31785806-31785806
95 PAX6 NM_019040.5(ELP4):c.*5357A>GSNV Uncertain significance 304343 rs886048197 11:31810429-31810429 11:31788881-31788881
96 PAX6 NM_019040.5(ELP4):c.*5471T>CSNV Uncertain significance 304344 rs886048198 11:31810543-31810543 11:31788995-31788995
97 PAX6 NM_019040.5(ELP4):c.*6054A>TSNV Uncertain significance 304350 rs774392481 11:31811126-31811126 11:31789578-31789578
98 PAX6 NM_019040.5(ELP4):c.*6075A>GSNV Uncertain significance 304351 rs766518284 11:31811147-31811147 11:31789599-31789599
99 PAX6 NM_019040.5(ELP4):c.*6203C>TSNV Uncertain significance 304353 rs886048199 11:31811275-31811275 11:31789727-31789727
100 PAX6 NM_019040.5(ELP4):c.*6227dupduplication Uncertain significance 304354 rs886048200 11:31811298-31811299 11:31789750-31789751
101 PAX6 NM_000280.4(PAX6):c.-59G>TSNV Uncertain significance 304361 rs886048204 11:31828404-31828404 11:31806856-31806856
102 PAX6 NM_000280.4(PAX6):c.-147_-146dupduplication Uncertain significance 304363 rs886048205 11:31832392-31832393 11:31810844-31810845
103 PAX6 NM_019040.5(ELP4):c.*3528A>GSNV Uncertain significance 304319 rs143185259 11:31808600-31808600 11:31787052-31787052
104 CYP1B1 NM_000104.3(CYP1B1):c.*2207G>ASNV Uncertain significance 335915 rs9341267 2:38295658-38295658 2:38068515-38068515
105 CYP1B1 NM_000104.3(CYP1B1):c.*1938G>ASNV Uncertain significance 335918 rs570132783 2:38295927-38295927 2:38068784-38068784
106 CYP1B1 NM_000104.3(CYP1B1):c.*1781T>CSNV Uncertain significance 335921 rs750990195 2:38296084-38296084 2:38068941-38068941
107 CYP1B1 NM_000104.3(CYP1B1):c.*1730A>GSNV Uncertain significance 335922 rs886055991 2:38296135-38296135 2:38068992-38068992
108 CYP1B1 NM_000104.3(CYP1B1):c.*1141A>GSNV Uncertain significance 335929 rs759611970 2:38296724-38296724 2:38069581-38069581
109 CYP1B1 NM_000104.3(CYP1B1):c.*1062G>TSNV Uncertain significance 335932 rs185371002 2:38296803-38296803 2:38069660-38069660
110 CYP1B1 NM_000104.3(CYP1B1):c.*1005C>TSNV Uncertain significance 335934 rs35978993 2:38296860-38296860 2:38069717-38069717
111 CYP1B1 NM_000104.3(CYP1B1):c.*466G>ASNV Uncertain significance 335942 rs9341260 2:38297399-38297399 2:38070256-38070256
112 CYP1B1 NM_000104.3(CYP1B1):c.918G>A (p.Gly306=)SNV Uncertain significance 335953 rs748708268 2:38301614-38301614 2:38074471-38074471
113 CYP1B1 NM_000104.3(CYP1B1):c.-197C>GSNV Uncertain significance 335961 rs886056001 2:38303117-38303117 2:38075975-38075975
114 CYP1B1 NM_000104.3(CYP1B1):c.*3078G>ASNV Uncertain significance 335907 rs886055986 2:38294787-38294787 2:38067644-38067644
115 CYP1B1 NM_000104.3(CYP1B1):c.*2499T>CSNV Uncertain significance 335909 rs886055988 2:38295366-38295366 2:38068223-38068223
116 CYP1B1 NM_000104.3(CYP1B1):c.*2333G>ASNV Uncertain significance 335913 rs35320531 2:38295532-38295532 2:38068389-38068389
117 CYP1B1 NM_000104.3(CYP1B1):c.*1601C>TSNV Uncertain significance 335923 rs886055992 2:38296264-38296264 2:38069121-38069121
118 CYP1B1 NM_000104.3(CYP1B1):c.*1460A>GSNV Uncertain significance 335925 rs137915099 2:38296405-38296405 2:38069262-38069262
119 CYP1B1 NM_000104.3(CYP1B1):c.*1079C>GSNV Uncertain significance 335930 rs886055994 2:38296786-38296786 2:38069643-38069643
120 CYP1B1 NM_000104.3(CYP1B1):c.*1075G>CSNV Uncertain significance 335931 rs77105857 2:38296790-38296790 2:38069647-38069647
121 CYP1B1 NM_000104.3(CYP1B1):c.*981T>CSNV Uncertain significance 335935 rs9341262 2:38296884-38296884 2:38069741-38069741
122 CYP1B1 NM_000104.3(CYP1B1):c.*879deldeletion Uncertain significance 335937 rs4646433 2:38296986-38296986 2:38069843-38069843
123 CYP1B1 NM_000104.3(CYP1B1):c.*867dupduplication Uncertain significance 335938 rs200949126 2:38296997-38296998 2:38069854-38069855
124 CYP1B1 NM_000104.3(CYP1B1):c.*493G>ASNV Uncertain significance 335941 rs886055996 2:38297372-38297372 2:38070229-38070229
125 CYP1B1 NM_000104.3(CYP1B1):c.1406G>A (p.Arg469Gln)SNV Uncertain significance 335950 rs747324108 2:38298091-38298091 2:38070948-38070948
126 CYP1B1 NM_000104.3(CYP1B1):c.-2G>ASNV Uncertain significance 335958 rs9341245 2:38302923-38302923 2:38075780-38075780
127 CYP1B1 NM_000104.3(CYP1B1):c.*2660T>ASNV Uncertain significance 335908 rs886055987 2:38295205-38295205 2:38068062-38068062
128 CYP1B1 NM_000104.3(CYP1B1):c.*115G>ASNV Uncertain significance 335947 rs555706078 2:38297750-38297750 2:38070607-38070607
129 CYP1B1 NM_000104.3(CYP1B1):c.*105C>TSNV Uncertain significance 335948 rs756083290 2:38297760-38297760 2:38070617-38070617
130 CYP1B1 NM_000104.3(CYP1B1):c.1474G>A (p.Asp492Asn)SNV Uncertain significance 335949 rs776848093 2:38298023-38298023 2:38070880-38070880
131 CYP1B1 NM_000104.3(CYP1B1):c.1202A>G (p.His401Arg)SNV Uncertain significance 335951 rs886055997 2:38298295-38298295 2:38071152-38071152
132 CYP1B1 NM_000104.3(CYP1B1):c.8C>A (p.Thr3Asn)SNV Uncertain significance 335955 rs372685881 2:38302524-38302524 2:38075381-38075381
133 CYP1B1 NM_000104.3(CYP1B1):c.-1-10C>TSNV Uncertain significance 335956 rs780269033 2:38302542-38302542 2:38075399-38075399
134 CYP1B1 NM_000104.3(CYP1B1):c.-360G>CSNV Uncertain significance 335962 rs886056002 2:38303280-38303280 2:38076138-38076138
135 46;XX;t(X;22)(q13;q13)Translocation Uncertain significance 267877
136 PAX6 NM_000280.4(PAX6):c.547G>C (p.Gly183Arg)SNV Uncertain significance 304358 rs886048202 11:31816313-31816313 11:31794765-31794765
137 PAX6 NM_000280.4(PAX6):c.-430G>CSNV Uncertain significance 304367 rs886048207 11:31832776-31832776 11:31811228-31811228
138 PAX6 NM_019040.5(ELP4):c.*6053T>ASNV Uncertain significance 304348 rs774473337 11:31811125-31811125 11:31789577-31789577
139 PAX6 NM_019040.5(ELP4):c.*6067deldeletion Uncertain significance 304349 rs200391530 11:31811126-31811126 11:31789578-31789578
140 PAX6 NM_019040.5(ELP4):c.*6303C>GSNV Uncertain significance 304355 rs886048201 11:31811375-31811375 11:31789827-31789827
141 PAX6 NM_019040.5(ELP4):c.*3920C>TSNV Uncertain significance 304325 rs886048191 11:31808992-31808992 11:31787444-31787444
142 PAX6 NM_019040.5(ELP4):c.*5519C>TSNV Uncertain significance 304345 rs530259403 11:31810591-31810591 11:31789043-31789043
143 PAX6 NM_019040.5(ELP4):c.*6184A>GSNV Uncertain significance 304352 rs753595935 11:31811256-31811256 11:31789708-31789708
144 PAX6 NM_000280.4(PAX6):c.-507T>CSNV Uncertain significance 304369 rs886048209 11:31832853-31832853 11:31811305-31811305
145 PAX6 NM_019040.5(ELP4):c.*2710_*2711CA[2]short repeat Uncertain significance 304306 rs886048186 11:31807781-31807782 11:31786233-31786234
146 PAX6 NM_019040.5(ELP4):c.*3504T>CSNV Uncertain significance 304315 rs886048187 11:31808576-31808576 11:31787028-31787028
147 PAX6 NM_019040.5(ELP4):c.*3523deldeletion Uncertain significance 304318 rs886048188 11:31808595-31808595 11:31787047-31787047
148 PAX6 NM_019040.5(ELP4):c.*3978T>CSNV Uncertain significance 304326 rs886048192 11:31809050-31809050 11:31787502-31787502
149 B3GLCT NM_194318.4(B3GLCT):c.968A>G (p.His323Arg)SNV Uncertain significance 566991 rs1566082139 13:31860860-31860860 13:31286723-31286723
150 B3GLCT NM_194318.4(B3GLCT):c.56T>C (p.Leu19Pro)SNV Uncertain significance 574845 rs999173078 13:31774277-31774277 13:31200140-31200140
151 PAX6 NM_000280.4(PAX6):c.220A>T (p.Ser74Cys)SNV Uncertain significance 578328 rs1565239425 11:31823246-31823246 11:31801698-31801698
152 PAX6 NM_000280.4(PAX6):c.141+3G>CSNV Uncertain significance 460458 rs369243018 11:31824249-31824249 11:31802701-31802701
153 PITRM1 NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAGinsertion Uncertain significance 802557 10:3208567-3208568 10:3166375-3166376
154 B3GLCT NM_194318.4(B3GLCT):c.1447G>A (p.Glu483Lys)SNV Uncertain significance 661341 13:31903755-31903755 13:31329618-31329618
155 PAX6 NC_000011.9:g.(?_31816158)_(31816377_?)deldeletion Uncertain significance 651831 11:31816158-31816377 11:31794610-31794829
156 PAX6 NM_000280.4(PAX6):c.49_54del (p.Asn17_Gly18del)deletion Uncertain significance 659801 11:31824339-31824344 11:31802791-31802796
157 PAX6 NM_000280.4(PAX6):c.632A>G (p.Gln211Arg)SNV Uncertain significance 648737 11:31816228-31816228 11:31794680-31794680
158 PAX6 NM_000280.4(PAX6):c.672C>T (p.Ala224=)SNV Likely benign 460464 rs1554983496 11:31816188-31816188 11:31794640-31794640
159 PAX6 NM_019040.5(ELP4):c.*4251G>ASNV Likely benign 304335 rs3026396 11:31809323-31809323 11:31787775-31787775
160 PAX6 NM_019040.5(ELP4):c.*5569G>ASNV Likely benign 304346 rs530931929 11:31810641-31810641 11:31789093-31789093
161 PAX6 NM_019040.5(ELP4):c.*5993G>ASNV Likely benign 304347 rs55756603 11:31811065-31811065 11:31789517-31789517
162 PAX6 NM_019040.5(ELP4):c.*2740G>ASNV Likely benign 304307 rs149777109 11:31807812-31807812 11:31786264-31786264
163 PAX6 NM_019040.5(ELP4):c.*2040G>CSNV Likely benign 304295 rs183115097 11:31807112-31807112 11:31785564-31785564
164 PAX6 NM_000280.4(PAX6):c.-107C>TSNV Likely benign 304362 rs111270711 11:31828452-31828452 11:31806904-31806904
165 PAX6 NM_000280.4(PAX6):c.981C>T (p.Ser327=)SNV Likely benign 460465 rs139416026 11:31815037-31815037 11:31793489-31793489
166 PITRM1 NM_014889.4(PITRM1):c.2420A>G (p.Lys807Arg)SNV Likely benign 221958 rs869025266 10:3187825-3187825 10:3145633-3145633
167 RARG NM_000966.6(RARG):c.245C>T (p.Pro82Leu)SNV Likely benign 221960 rs769476878 12:53609518-53609518 12:53215734-53215734
168 PRPF8 NM_006445.4(PRPF8):c.3527C>T (p.Ser1176Phe)SNV Likely benign 221959 rs869025267 17:1576781-1576781 17:1673487-1673487
169 EPHB2 NM_004442.7(EPHB2):c.787G>A (p.Val263Ile)SNV Likely benign 221961 rs150803261 1:23111545-23111545 1:22785052-22785052
170 DAB1 NM_021080.5(DAB1):c.1075G>A (p.Gly359Arg)SNV Likely benign 221922 rs746363033 1:57480925-57480925 1:57015252-57015252
171 FAT4 NM_001291285.1(FAT4):c.131A>C (p.Glu44Ala)SNV Likely benign 221921 rs200221425 4:126237697-126237697 4:125316542-125316542
172 FAT1 NM_005245.4(FAT1):c.4336G>A (p.Val1446Ile)SNV Likely benign 221920 rs200828005 4:187549905-187549905 4:186628751-186628751
173 CYP1B1 NM_000104.3(CYP1B1):c.*2371T>CSNV Likely benign 335911 rs9309020 2:38295494-38295494 2:38068351-38068351
174 CYP1B1 NM_000104.3(CYP1B1):c.*2409A>TSNV Likely benign 335910 rs162549 2:38295456-38295456 2:38068313-38068313
175 CYP1B1 NM_000104.3(CYP1B1):c.-1-14C>TSNV Likely benign 335957 rs4987134 2:38302546-38302546 2:38075403-38075403
176 CYP1B1 NM_000104.3(CYP1B1):c.*1871C>TSNV Likely benign 335920 rs9341266 2:38295994-38295994 2:38068851-38068851
177 PAX6 NM_019040.5(ELP4):c.*3713A>TSNV Likely benign 304322 rs138881442 11:31808785-31808785 11:31787237-31787237
178 PAX6 NM_019040.5(ELP4):c.*3904G>ASNV Likely benign 304324 rs3026397 11:31808976-31808976 11:31787428-31787428
179 PAX6 NM_000280.4(PAX6):c.-180A>GSNV Likely benign 304364 rs75563367 11:31832427-31832427 11:31810879-31810879
180 PAX6 NM_000280.4(PAX6):c.711G>A (p.Val237=)SNV Likely benign 304357 rs145329506 11:31815634-31815634 11:31794086-31794086
181 PAX6 NM_019040.5(ELP4):c.*2525C>ASNV Likely benign 304303 rs183433948 11:31807597-31807597 11:31786049-31786049
182 PAX6 NM_019040.5(ELP4):c.*2664G>ASNV Likely benign 304304 rs567720234 11:31807736-31807736 11:31786188-31786188
183 PAX6 NM_019040.5(ELP4):c.*3242G>ASNV Likely benign 304311 rs187705792 11:31808314-31808314 11:31786766-31786766
184 PAX6 NM_019040.5(ELP4):c.*3383C>TSNV Likely benign 304312 rs541022955 11:31808455-31808455 11:31786907-31786907
185 PAX6 NM_019040.5(ELP4):c.*3425C>TSNV Likely benign 304313 rs3026399 11:31808497-31808497 11:31786949-31786949
186 PAX6 NM_019040.5(ELP4):c.*3433G>TSNV Likely benign 304314 rs192709453 11:31808505-31808505 11:31786957-31786957
187 PAX6 NM_019040.5(ELP4):c.*3994C>ASNV Likely benign 304327 rs79739975 11:31809066-31809066 11:31787518-31787518
188 PAX6 NM_019040.5(ELP4):c.*4172A>CSNV Likely benign 304333 rs73477658 11:31809244-31809244 11:31787696-31787696
189 PAX6 NM_019040.5(ELP4):c.*4806T>ASNV Likely benign 304336 rs189545730 11:31809878-31809878 11:31788330-31788330
190 PAX6 NM_019040.5(ELP4):c.*4932G>ASNV Likely benign 304338 rs181818313 11:31810004-31810004 11:31788456-31788456
191 PAX6 NM_019040.5(ELP4):c.*1714C>GSNV Likely benign 304291 rs180780893 11:31806786-31806786 11:31785238-31785238
192 PAX6 NM_019040.5(ELP4):c.*1811A>CSNV Likely benign 304293 rs185968715 11:31806883-31806883 11:31785335-31785335
193 PAX6 NM_000280.4(PAX6):c.-316-8C>GSNV Likely benign 304365 rs566281941 11:31832571-31832571 11:31811023-31811023
194 PAX6 NM_019040.5(ELP4):c.*1302T>CSNV Likely benign 304289 rs146579778 11:31806374-31806374 11:31784826-31784826
195 PAX6 NM_019040.5(ELP4):c.*5123T>ASNV Likely benign 304340 rs576321279 11:31810195-31810195 11:31788647-31788647
196 PAX6 NM_019040.5(ELP4):c.*3092T>CSNV Likely benign 304308 rs371438311 11:31808164-31808164 11:31786616-31786616
197 PAX6 NM_019040.5(ELP4):c.*3509A>GSNV Likely benign 304316 rs542906080 11:31808581-31808581 11:31787033-31787033
198 PITX2 NM_000325.6(PITX2):c.862C>T (p.Leu288=)SNV Likely benign 347298 rs139401187 4:111539394-111539394 4:110618238-110618238
199 PITX2 NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)SNV Likely benign 347300 rs201628949 4:111542507-111542507 4:110621351-110621351
200 PAX6 NM_019040.5(ELP4):c.*1783T>GSNV Likely benign 304292 rs140971065 11:31806855-31806855 11:31785307-31785307
201 PITX2 NM_000325.6(PITX2):c.*471G>ASNV Likely benign 347291 rs75911264 4:111538810-111538810 4:110617654-110617654
202 PITX2 NM_000325.6(PITX2):c.*176A>TSNV Likely benign 347296 rs567517676 4:111539105-111539105 4:110617949-110617949
203 PITX2 NM_000325.6(PITX2):c.*340A>GSNV Likely benign 347294 rs551209662 4:111538941-111538941 4:110617785-110617785
204 CYP1B1 NM_000104.3(CYP1B1):c.729G>C (p.Val243=)SNV Benign/Likely benign 166972 rs9341249 2:38301803-38301803 2:38074660-38074660
205 CYP1B1 NM_000104.3(CYP1B1):c.564C>A (p.Gly188=)SNV Benign/Likely benign 166973 rs9341247 2:38301968-38301968 2:38074825-38074825
206 CYP1B1 NM_000104.3(CYP1B1):c.-1-12C>TSNV Benign/Likely benign 166974 rs2617266 2:38302544-38302544 2:38075401-38075401
207 PITX2 NM_000325.6(PITX2):c.819G>A (p.Pro273=)SNV Benign/Likely benign 167472 rs148191851 4:111539437-111539437 4:110618281-110618281
208 PITX2 NM_000325.6(PITX2):c.618T>G (p.Ser206=)SNV Benign/Likely benign 262718 rs35946364 4:111539638-111539638 4:110618482-110618482
209 PITX2 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)SNV Benign/Likely benign 197884 rs77144743 4:111539694-111539694 4:110618538-110618538
210 PAX6 NM_000280.4(PAX6):c.-129+9G>ASNV Benign/Likely benign 218438 rs56139994 11:31832367-31832367 11:31810819-31810819
211 PAX6 NM_000280.4(PAX6):c.831G>A (p.Gln277=)SNV Benign/Likely benign 304356 rs149053004 11:31815285-31815285 11:31793737-31793737
212 PAX6 NM_000280.4(PAX6):c.327G>A (p.Glu109=)SNV Benign/Likely benign 304359 rs114384476 11:31823139-31823139 11:31801591-31801591
213 PAX6 NM_019040.5(ELP4):c.*2114C>GSNV Benign 304297 rs16922475 11:31807186-31807186 11:31785638-31785638
214 PAX6 NM_019040.5(ELP4):c.*3208C>TSNV Benign 304310 rs608293 11:31808280-31808280 11:31786732-31786732
215 PAX6 NM_019040.5(ELP4):c.*4250C>TSNV Benign 304334 rs12421026 11:31809322-31809322 11:31787774-31787774
216 PAX6 NM_019040.5(ELP4):c.*3703G>ASNV Benign 304321 rs3026398 11:31808775-31808775 11:31787227-31787227
217 PAX6 NM_019040.5(ELP4):c.*3514_*3517dupduplication Benign 304317 rs397795797 11:31808585-31808586 11:31787037-31787038
218 PAX6 NM_000280.4(PAX6):c.766-12C>TSNV Benign 258168 rs667773 11:31815362-31815362 11:31793814-31793814
219 B3GLCT NM_194318.4(B3GLCT):c.1105G>A (p.Gly369Ser)SNV Benign 263091 rs34638481 13:31891743-31891743 13:31317606-31317606
220 CYP1B1 NM_000104.3(CYP1B1):c.1347T>C (p.Asp449=)SNV Benign 166970 rs1056837 2:38298150-38298150 2:38071007-38071007
221 PITX2 NM_000325.6(PITX2):c.*454C>TSNV Benign 183253 rs6533526 4:111538827-111538827 4:110617671-110617671
222 CYP1B1 NM_000104.3(CYP1B1):c.*975A>GSNV Benign 335936 rs2855658 2:38296890-38296890 2:38069747-38069747
223 CYP1B1 NM_000104.3(CYP1B1):c.-97dupduplication Benign 335960 rs11379588 2:38303017-38303018 2:38075874-38075875
224 CYP1B1 NM_000104.3(CYP1B1):c.*210dupduplication Benign 335945 rs4646431 2:38297654-38297655 2:38070511-38070512
225 CYP1B1 NM_000104.3(CYP1B1):c.*695G>TSNV Benign 335939 rs10916 2:38297170-38297170 2:38070027-38070027
226 CYP1B1 NM_000104.3(CYP1B1):c.*350C>ASNV Benign 335944 rs162562 2:38297515-38297515 2:38070372-38070372
227 PAX6 NM_019040.5(ELP4):c.*5226T>ASNV Benign 304341 rs1506 11:31810298-31810298 11:31788750-31788750
228 PAX6 NM_019040.5(ELP4):c.*5347T>CSNV Benign 304342 rs117590302 11:31810419-31810419 11:31788871-31788871
229 PAX6 NM_019040.5(ELP4):c.*2673_*2674deldeletion Benign 304305 rs141022497 11:31807745-31807746 11:31786197-31786198
230 PAX6 NM_019040.5(ELP4):c.*3164_*3165insAAAAinsertion Benign 304309 rs34919147 11:31808235-31808236 11:31786687-31786688
231 PAX6 NM_019040.5(ELP4):c.*2452C>TSNV Benign 304301 rs3026401 11:31807524-31807524 11:31785976-31785976
232 PAX6 NM_019040.5(ELP4):c.*3998C>TSNV Benign 304328 rs662702 11:31809070-31809070 11:31787522-31787522
233 PAX6 NM_019040.5(ELP4):c.*4105C>TSNV Benign 304332 rs73477656 11:31809177-31809177 11:31787629-31787629

Copy number variations for Peters-Plus Syndrome from CNVD:

7 (showing 7, show less)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 76126 13 27800000 32900000 Deletion B3GALTL Peters Plus syndrome
2 76127 13 27800000 32900000 Deletion BRCA2 Peters Plus syndrome
3 76128 13 27800000 32900000 Deletion FRY Peters Plus syndrome
4 76129 13 27800000 32900000 Deletion HSPH1 Peters Plus syndrome
5 76130 13 27800000 32900000 Deletion LGR8 Peters Plus syndrome
6 76131 13 27800000 32900000 Deletion LOC196545 Peters Plus syndrome
7 76132 13 27800000 32900000 Deletion gene Peters Plus syndrome

Expression for Peters-Plus Syndrome

Search GEO for disease gene expression data for Peters-Plus Syndrome.

Pathways for Peters-Plus Syndrome

GO Terms for Peters-Plus Syndrome

Cellular components related to Peters-Plus Syndrome according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.93 THSD4 THBS1 SPON1 CFP ADAMTSL5 ADAMTSL4
2 endoplasmic reticulum lumen GO:0005788 9.72 THBS1 SPON1 CFP ADAMTSL4 ADAMTSL1
3 extracellular matrix GO:0031012 9.5 THSD4 THBS1 SPON1 ADAMTSL5 ADAMTSL4 ADAMTSL2
4 microfibril GO:0001527 9.43 THSD4 ADAMTSL5 ADAMTS10
5 collagen-containing extracellular matrix GO:0062023 9.23 THSD4 THBS1 SPON1 CFP ADAMTSL4 ADAMTS9

Biological processes related to Peters-Plus Syndrome according to GeneCards Suite gene sharing:

(showing 16, show less)
# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 9.67 PITX3 PITX2 FOXE3 FOXC1
2 extracellular matrix organization GO:0030198 9.65 THBS1 ADAMTSL4 ADAMTSL2 ADAMTS9 ADAMTS20
3 lens development in camera-type eye GO:0002088 9.61 PITX3 PAX6 FOXE3
4 eye development GO:0001654 9.58 PAX6 FOXE3 FOXC1
5 negative regulation of endothelial cell migration GO:0010596 9.56 THBS1 ADAMTS9
6 cornea development in camera-type eye GO:0061303 9.55 PAX6 FOXE3
7 protein O-linked fucosylation GO:0036066 9.54 POFUT2 B3GLCT
8 positive regulation of core promoter binding GO:1904798 9.52 PAX6 FOXC1
9 lacrimal gland development GO:0032808 9.51 PAX6 FOXC1
10 fucose metabolic process GO:0006004 9.49 POFUT2 B3GLCT
11 regulation of developmental pigmentation GO:0048070 9.48 ADAMTS9 ADAMTS20
12 positive regulation of melanocyte differentiation GO:0045636 9.46 ADAMTS9 ADAMTS20
13 camera-type eye development GO:0043010 9.46 PITX2 PAX6 FOXE3 FOXC1
14 trabecular meshwork development GO:0002930 9.32 FOXE3 CYP1B1
15 proteolysis GO:0006508 9.23 THSD4 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS9 ADAMTS20
16 iris morphogenesis GO:0061072 9.13 PITX2 PAX6 FOXE3

Molecular functions related to Peters-Plus Syndrome according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.72 PITX3 PITX2 PAX6 FOXE3 FOXC1
2 metallopeptidase activity GO:0008237 9.46 ADAMTS9 ADAMTS20 ADAMTS17 ADAMTS10
3 extracellular matrix structural constituent GO:0005201 9.43 THSD4 THBS1 SPON1
4 metalloendopeptidase activity GO:0004222 9.26 ADAMTS9 ADAMTS20 ADAMTS17 ADAMTS10
5 peptidase activity GO:0008233 9.23 THSD4 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS9 ADAMTS20

Sources for Peters-Plus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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