PTRPLS
MCID: PTR032
MIFTS: 63

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 Q13.8
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 bone, and related phenotypes are peters anomaly and intellectual disability

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:

(show top 50) (show all 178)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 5 33.3 PAX6 CYP1B1
2 anterior segment dysgenesis 2 33.3 PITX3 FOXE3
3 anterior segment dysgenesis 4 32.9 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 persistent hyperplastic primary vitreous 31.0 PITX2 PAX6 FOXE3 FOXC1
7 anterior segment dysgenesis 30.9 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
8 aniridia 1 30.8 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
9 congenital aphakia 30.7 PAX6 FOXE3
10 sclerocornea 30.7 PAX6 FOXE3 FOXC1 B3GLCT
11 megalocornea 30.6 PITX2 FOXC1 CYP1B1 ADAMTS17 ADAMTS10
12 coloboma of macula 30.6 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
13 amblyopia 30.6 PITX3 PAX6 FOXE3
14 isolated aniridia 30.6 PAX6 FOXC1
15 primary congenital glaucoma 30.6 PITX2 PAX6 FOXE3 FOXC1 CYP1B1 ADAMTS10
16 colobomatous microphthalmia 30.5 PITX3 PITX2 PAX6
17 axenfeld-rieger syndrome 30.5 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
18 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.5 PITX2 PAX6 FOXC1
19 isolated ectopia lentis 30.5 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS17
20 axenfeld-rieger syndrome, type 3 30.4 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
21 corneal disease 30.4 PITX2 PAX6 FOXE3 FOXC1
22 cataract 30.3 PITX3 PITX2 PAX6 FOXE3 FOXC1 ADAMTSL4
23 axenfeld-rieger syndrome, type 1 30.3 PITX3 PITX2 PAX6 FOXE3 FOXC1 B3GLCT
24 glaucoma 3, primary congenital, a 30.0 PITX2 PAX6 FOXE3 FOXC1 CYP1B1 B3GLCT
25 anterior segment dysgenesis 6 11.9
26 anterior segment dysgenesis 1 11.8
27 anterior segment dysgenesis 3 11.8
28 branchiootic syndrome 1 11.5
29 cryptophthalmos, unilateral or bilateral, isolated 11.5
30 corneal dystrophy and perceptive deafness 11.2
31 anterior segment dysgenesis 7 11.2
32 anterior segment dysgenesis 8 11.2
33 cataract microcornea syndrome 11.2
34 ectopia lentis 1, isolated, autosomal dominant 10.6 THSD4 ADAMTSL4 ADAMTS10
35 ectopia lentis 2, isolated, autosomal recessive 10.6 THSD4 ADAMTSL4 ADAMTS10
36 tracheal disease 10.6 ADAMTSL2 ADAMTS17 ADAMTS10
37 stiff skin syndrome 10.6 THBS1 ADAMTSL4 ADAMTSL2 ADAMTS10
38 tracheal stenosis 10.6 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
39 lens subluxation 10.5 PAX6 ADAMTSL4 ADAMTS17 ADAMTS10
40 cleft lip 10.5
41 axenfeld-rieger syndrome, type 2 10.5 PITX2 FOXC1
42 cleft lip/palate 10.5
43 early-onset glaucoma 10.5 PITX2 CYP1B1
44 acromicric dysplasia 10.5 THSD4 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS17 ADAMTS10
45 gillespie syndrome 10.5 PITX2 PAX6 FOXC1
46 intestinal atresia 10.5 PITX2 PAX6 FOXC1
47 communicating hydrocephalus 10.5
48 polyhydramnios 10.5
49 glaucoma, primary open angle 10.4 FOXC1 CYP1B1 ADAMTS17 ADAMTS10
50 disuse amblyopia 10.4 PITX3 FOXE3

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 (show top 50) (show all 141)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peters anomaly 58 31 obligate (100%) Very frequent (99-80%),Obligate (100%) HP:0000659
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
5 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
6 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
7 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
8 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
9 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
10 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
11 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
12 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
13 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
14 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
15 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
16 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
17 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
18 anterior chamber synechiae 58 31 hallmark (90%) Very frequent (99-80%) HP:0007833
19 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
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 anterior synechiae of the anterior chamber 58 31 hallmark (90%) Very frequent (99-80%) HP:0011483
23 subcapsular cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000523
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 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
27 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
28 widely spaced teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000687
29 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
30 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
31 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
32 nystagmus 58 31 very rare (1%) Frequent (79-30%),Very rare (<4-1%) HP:0000639
33 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
34 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
35 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
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 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
39 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
40 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
41 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
42 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
43 pulmonic stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001642
44 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
45 microcornea 58 31 frequent (33%) Frequent (79-30%) HP:0000482
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 preauricular pit 58 31 frequent (33%) Frequent (79-30%) HP:0004467
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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract
glaucoma
peters anomaly
retinal coloboma
upslanting palpebral fissures
more
Head And Neck Teeth:
widely spaced teeth

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

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

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

Growth Height:
short stature

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

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

Skeletal Hands:
brachydactyly
fifth finger clinodactyly
broad hands

Cardiovascular Vascular:
patent ductus arteriosus

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-4 9.55 THBS1
2 Decreased viability GR00240-S-1 9.55 ADAMTS17 SPON1
3 Decreased viability GR00249-S 9.55 ADAMTS10 ADAMTSL1 CYP1B1 PITX2
4 Decreased viability GR00381-A-1 9.55 ADAMTS10 ADAMTS17
5 Decreased viability GR00381-A-2 9.55 ADAMTS17
6 Decreased viability GR00381-A-3 9.55 ADAMTS17
7 Decreased viability GR00386-A-1 9.55 PAX6
8 Decreased viability GR00402-S-2 9.55 ADAMTS17 ADAMTSL1 B3GLCT PITX2 THBS1

MGI Mouse Phenotypes related to Peters-Plus Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.97 ADAMTS10 ADAMTS20 ADAMTS9 ADAMTSL4 B3GLCT FOXC1
2 digestive/alimentary MP:0005381 9.91 ADAMTS20 ADAMTS9 B3GLCT FOXC1 PAX6 PITX2
3 limbs/digits/tail MP:0005371 9.91 ADAMTS20 ADAMTS9 ADAMTSL2 ADAMTSL5 B3GLCT FOXC1
4 pigmentation MP:0001186 9.76 ADAMTS20 ADAMTS9 ADAMTSL4 B3GLCT FOXC1 PAX6
5 skeleton MP:0005390 9.7 ADAMTS10 ADAMTSL2 ADAMTSL5 B3GLCT CFP FOXC1
6 vision/eye MP:0005391 9.32 ADAMTS10 ADAMTS9 ADAMTSL4 B3GLCT CYP1B1 FOXC1

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, Bone, Heart, Skin, Uterus, Endothelial

Publications for Peters-Plus Syndrome

Articles related to Peters-Plus Syndrome:

(show top 50) (show all 374)
# Title Authors PMID Year
1
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. 61 24 6 56
16909395 2006
2
Novel B3GALTL mutation in Peters-plus Syndrome. 61 6 56
19796186 2009
3
Mutation analysis of B3GALTL in Peters Plus syndrome. 6 56 61
18798333 2008
4
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. 56 6 61
18199743 2008
5
The Peters' plus syndrome: a review. 56 24 61
12119218 2002
6
Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome. 24 56 61
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. 56 61 24
6443615 1984
9
Peters Plus Syndrome 6 61
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. 24 61
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. 24 61
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. 24 61
7508316 1993
25
Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder? 24 61
7508317 1993
26
Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies. 56
3189394 1988
27
A child with sclerocornea, short limbs, short stature, and distinct facial appearance. 56
3055984 1988
28
A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly. 61 54
20405024 2010
29
Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population. 61 54
20151268 2010
30
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. 61 54
18498376 2008
31
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities. 61 54
17417613 2007
32
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
33
Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats. 24
17032646 2006
34
Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma. 61 54
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. 61 54
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. 61 54
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. 61 54
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. 61 54
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

Variations for Peters-Plus Syndrome

ClinVar genetic disease variations for Peters-Plus Syndrome:

6 (show top 50) (show all 393) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAX6 NM_000280.4(PAX6):c.511C>T (p.Gln171Ter)SNV Pathogenic 430998 rs1131692308 11:31822251-31822251 11:31800703-31800703
2 PAX6 NM_000280.4(PAX6):c.403C>T (p.Gln135Ter)SNV Pathogenic 430994 rs1131692304 11:31822359-31822359 11:31800811-31800811
3 PAX6 NM_001310160.1(PAX6):c.-704deldeletion Pathogenic 430974 rs1131692286 11:31824315-31824315 11:31802767-31802767
4 PAX6 NM_000280.4(PAX6):c.1A>C (p.Met1Leu)SNV Pathogenic 430972 rs1131692284 11:31827959-31827959 11:31806411-31806411
5 B3GLCT NM_194318.4(B3GLCT):c.459+1G>ASNV Pathogenic 449340 rs767361165 13:31822104-31822104 13:31247967-31247967
6 PAX6 NM_019040.5(ELP4):c.*6459_*6465deldeletion Pathogenic 460457 rs1554982299 11:31811530-31811536 11:31789982-31789988
7 PAX6 NM_000280.4(PAX6):c.495del (p.Thr166fs)deletion Pathogenic 460463 rs1554984996 11:31822267-31822267 11:31800719-31800719
8 PAX6 NM_000280.4(PAX6):c.470del (p.Gly157fs)deletion Pathogenic 460462 rs1554985024 11:31822292-31822292 11:31800744-31800744
9 PAX6 NM_000280.4(PAX6):c.120C>A (p.Cys40Ter)SNV Pathogenic 460456 rs1329112134 11:31824273-31824273 11:31802725-31802725
10 CYP1B1 NM_000104.3(CYP1B1):c.1063_1075del (p.Arg355fs)deletion Pathogenic 417858 rs1064792896 2:38298422-38298434 2:38071279-38071291
11 PAX6 NM_001368911.1(PAX6):c.1078-814_1078-810dupduplication Pathogenic 460455 rs1554982609 11:31812376-31812377 11:31790828-31790829
12 PAX6 NM_000280.4(PAX6):c.357+4A>TSNV Pathogenic 460459 rs1554985282 11:31823105-31823105 11:31801557-31801557
13 PAX6 NM_000280.4(PAX6):c.3G>A (p.Met1Ile)SNV Pathogenic 460461 rs1554986754 11:31827957-31827957 11:31806409-31806409
14 PAX6 NM_000280.4(PAX6):c.325G>T (p.Glu109Ter)SNV Pathogenic 492993 rs1554985305 11:31823141-31823141 11:31801593-31801593
15 PAX6 NC_000011.10:g.(?_31789934)_(31806411_?)deldeletion Pathogenic 529895 11:31811482-31827959 11:31789934-31806411
16 PAX6 NC_000011.10:g.(?_31789914)_(31794829_?)deldeletion Pathogenic 529893 11:31811462-31816377 11:31789914-31794829
17 PAX6 NM_000280.4(PAX6):c.536_537insC (p.Gln179fs)insertion Pathogenic 529891 rs1554983577 11:31816323-31816324 11:31794775-31794776
18 PAX6 NM_000280.4(PAX6):c.139C>T (p.Gln47Ter)SNV Pathogenic 529892 rs1554985716 11:31824254-31824254 11:31802706-31802706
19 PAX6 NC_000011.10:g.(?_31664397)_(31794829_?)deldeletion Pathogenic 584225 11:31685945-31816377 11:31664397-31794829
20 PAX6 NM_000280.4(PAX6):c.114dup (p.Pro39fs)duplication Pathogenic 567776 rs1565245598 11:31824278-31824279 11:31802730-31802731
21 PAX6 NM_001310160.1(PAX6):c.-680_-676delinsAACCindel Pathogenic 565950 rs1565245835 11:31824287-31824291 11:31802739-31802743
22 PAX6 NC_000011.9:g.(?_31284590)_(32456911_?)deldeletion Pathogenic 583750 11:31284590-32456911
23 PAX6 NM_000280.4(PAX6):c.775dup (p.Ser259fs)duplication Pathogenic 665256 11:31815340-31815341 11:31793792-31793793
24 PAX6 NM_000280.4(PAX6):c.112del (p.Arg38fs)deletion Pathogenic 651977 11:31824281-31824281 11:31802733-31802733
25 PAX6 NC_000011.10:g.(?_31794610)_(31794829_?)deldeletion Pathogenic 651831 11:31816158-31816377 11:31794610-31794829
26 PAX6 NC_000011.9:g.(?_31284590)_(31832374_?)deldeletion Pathogenic 647471 11:31284590-31832374
27 PAX6 NM_000280.4(PAX6):c.1183+5G>ASNV Pathogenic 658957 11:31812253-31812253 11:31790705-31790705
28 PAX6 NM_001310160.1(PAX6):c.-747deldeletion Pathogenic 658913 11:31824358-31824358 11:31802810-31802810
29 PAX6 NM_000280.4(PAX6):c.766-1G>CSNV Pathogenic 800453 11:31815351-31815351 11:31793803-31793803
30 PAX6 NM_000280.4(PAX6):c.316_317insA (p.Leu106fs)insertion Pathogenic 835201 11:31823149-31823150 11:31801601-31801602
31 PAX6 NM_000280.4(PAX6):c.189_195del (p.Gly64fs)deletion Pathogenic 856041 11:31823271-31823277 11:31801723-31801729
32 PAX6 NM_000280.4(PAX6):c.62_65dup (p.Asp23fs)duplication Pathogenic 856320 11:31824327-31824328 11:31802779-31802780
33 PAX6 NM_000280.4(PAX6):c.453_454delinsTT (p.Gln152Ter)indel Pathogenic 843371 11:31822308-31822309 11:31800760-31800761
34 B3GLCT NM_194318.4(B3GLCT):c.660+1G>ASNV Pathogenic 1264 rs80338851 13:31843415-31843415 13:31269278-31269278
35 B3GLCT NM_194318.4(B3GLCT):c.347+5G>ASNV Pathogenic 1265 rs80338850 13:31821241-31821241 13:31247104-31247104
36 B3GLCT NM_194318.4(B3GLCT):c.230dup (p.Leu77fs)duplication Pathogenic 1267 13:31803389-31803390 13:31229252-31229253
37 B3GLCT NM_194318.4(B3GLCT):c.1178G>A (p.Gly393Glu)SNV Pathogenic 1268 rs267606675 13:31891816-31891816 13:31317679-31317679
38 PAX6 NM_000280.4(PAX6):c.607C>T (p.Arg203Ter)SNV Pathogenic 3466 rs121907916 11:31816253-31816253 11:31794705-31794705
39 PAX6 NM_000280.4(PAX6):c.718C>T (p.Arg240Ter)SNV Pathogenic 3467 rs121907917 11:31815627-31815627 11:31794079-31794079
40 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter)SNV Pathogenic 7737 rs72549387 2:38302361-38302361 2:38075218-38075218
41 B3GLCT NM_194318.4(B3GLCT):c.1098T>A (p.Tyr366Ter)SNV Pathogenic 21865 rs80338852 13:31891736-31891736 13:31317599-31317599
42 CYP1B1 NM_000104.3(CYP1B1):c.1200_1209dup (p.Thr404fs)duplication Pathogenic 68466 rs587778873 2:38298287-38298288 2:38071144-38071145
43 PAX6 NM_000280.4(PAX6):c.357+1G>ASNV Pathogenic 92758 rs398123295 11:31823108-31823108 11:31801560-31801560
44 PAX6 NM_000280.4(PAX6):c.152G>T (p.Gly51Val)SNV Pathogenic 68469 rs587778874 11:31823314-31823314 11:31801766-31801766
45 PAX6 NM_000280.4(PAX6):c.358delGdeletion Pathogenic 284286 rs886042838 11:31822404-31822404 11:31800856-31800856
46 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter)SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787
47 PAX6 NM_000280.4(PAX6):c.949C>T (p.Arg317Ter)SNV Pathogenic 372444 rs1057517785 11:31815069-31815069 11:31793521-31793521
48 PAX6 NM_000280.4(PAX6):c.486G>A (p.Trp162Ter)SNV Pathogenic 379847 rs1057520755 11:31822276-31822276 11:31800728-31800728
49 PAX6 NM_000280.4(PAX6):c.52G>C (p.Gly18Arg)SNV Pathogenic/Likely pathogenic 289849 rs886044289 11:31824341-31824341 11:31802793-31802793
50 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935

Copy number variations for Peters-Plus Syndrome from CNVD:

7
# 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:

# 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 collagen-containing extracellular matrix GO:0062023 9.56 THSD4 THBS1 SPON1 CFP ADAMTSL4 ADAMTS9
4 microfibril GO:0001527 9.43 THSD4 ADAMTSL5 ADAMTS10
5 extracellular matrix GO:0031012 9.36 THSD4 THBS1 SPON1 ADAMTSL5 ADAMTSL4 ADAMTSL2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 9.67 PITX3 PITX2 FOXE3 FOXC1
2 eye development GO:0001654 9.61 PAX6 FOXE3 FOXC1
3 lens development in camera-type eye GO:0002088 9.58 PITX3 PAX6 FOXE3
4 negative regulation of endothelial cell migration GO:0010596 9.56 THBS1 ADAMTS9
5 camera-type eye development GO:0043010 9.56 PITX2 PAX6 FOXE3 FOXC1
6 proteolysis GO:0006508 9.56 THSD4 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS9 ADAMTS20
7 cornea development in camera-type eye GO:0061303 9.55 PAX6 FOXE3
8 protein O-linked fucosylation GO:0036066 9.54 POFUT2 B3GLCT
9 positive regulation of core promoter binding GO:1904798 9.52 PAX6 FOXC1
10 lacrimal gland development GO:0032808 9.51 PAX6 FOXC1
11 fucose metabolic process GO:0006004 9.49 POFUT2 B3GLCT
12 regulation of developmental pigmentation GO:0048070 9.48 ADAMTS9 ADAMTS20
13 positive regulation of melanocyte differentiation GO:0045636 9.46 ADAMTS9 ADAMTS20
14 iris morphogenesis GO:0061072 9.33 PITX2 PAX6 FOXE3
15 trabecular meshwork development GO:0002930 9.32 FOXE3 CYP1B1
16 extracellular matrix organization GO:0030198 9.32 THSD4 THBS1 ADAMTSL5 ADAMTSL4 ADAMTSL2 ADAMTSL1

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.72 PITX3 PITX2 PAX6 FOXE3 FOXC1
2 peptidase activity GO:0008233 9.56 THSD4 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS9 ADAMTS20
3 metallopeptidase activity GO:0008237 9.46 ADAMTS9 ADAMTS20 ADAMTS17 ADAMTS10
4 extracellular matrix structural constituent GO:0005201 9.43 THSD4 THBS1 SPON1
5 metalloendopeptidase activity GO:0004222 9.28 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS9

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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