PTRPLS
MCID: PTR032
MIFTS: 64

Peters-Plus Syndrome (PTRPLS)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Peters-Plus Syndrome

MalaCards integrated aliases for Peters-Plus Syndrome:

Name: Peters-Plus Syndrome 57 11 73 12 38 75
Krause-Kivlin Syndrome 57 11 19 42 58 75 73 71
Peters Plus Syndrome 11 24 19 42 58 28 5 14
Peters Anomaly 11 19 42 58 75 43 14
Irido-Corneo-Trabecular Dysgenesis 42 28 5
Peters Anomaly-Short Limb Dwarfism Syndrome 11 42
Peters Anomaly with Short-Limb Dwarfism 57 73
Peters Anomaly with Short Limb Dwarfism 19 58
Krause-Van Schooneveld-Kivlin Syndrome 42 58
Peters Congenital Glaucoma 42 58
Ptrpls 57 73
Peters' Plus Syndrome 42
Peters'-Plus Syndrome 42
Anomaly Peters 53

Characteristics:


Inheritance:

Peters-Plus Syndrome: Autosomal recessive 57
Peters Plus Syndrome: Autosomal recessive 58
Peters Anomaly: Autosomal dominant,Autosomal recessive 58

Prevelance:

Peters Plus Syndrome: <1/1000000 (Worldwide) 58
Peters Anomaly: <1/1000000 (Worldwide) 58

Age Of Onset:

Peters Plus Syndrome: Neonatal 58
Peters Anomaly: Infancy,Neonatal 58

Age Of Death:

Peters Plus Syndrome: normal life expectancy 58

Classifications:

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


External Ids:

Disease Ontology 11 DOID:0060673 DOID:0080201
OMIM® 57 261540
ICD10 31 Q13.4
MESH via Orphanet 44 C537884
ICD10 via Orphanet 32 Q13.4 Q13.8
UMLS via Orphanet 72 C0796012
Orphanet 58 ORPHA708 ORPHA709
MedGen 40 C0796012
UMLS 71 C0796012

Summaries for Peters-Plus Syndrome

MedlinePlus Genetics: 42 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 krause-kivlin syndrome, is related to anterior segment dysgenesis 5 and intraocular pressure quantitative trait locus, 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 Disease. Affiliated tissues include eye, heart and uterus, and related phenotypes are peters anomaly and intellectual disability

Orphanet 58 Peters anomaly: Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.

Peters plus syndrome: Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

GARD: 19 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.

OMIM®: 57 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) (Updated 24-Oct-2022)

Disease Ontology 11 Peters anomaly: 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.

Peters plus syndrome: A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability.

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

Wikipedia 75 Krause-kivlin syndrome: Peters-plus syndrome or Krause-Kivlin syndrome is a hereditary syndrome defined by Peters' anomaly,... more...

Peters anomaly: Anterior segment mesenchymal dysgenesis, or simply anterior segment dysgenesis (ASD), is a failure of... 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 212)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 5 32.8 PTCH1 PAX6 ELP4 CYP1B1
2 intraocular pressure quantitative trait locus 31.3 PITX2 PAX6 FOXC1 CYP1B1
3 glaucoma 3, primary congenital, a 31.2 POMT2 PITX3 PITX2 PAX6 FOXE3 FOXC1
4 brachydactyly 31.1 PTCH1 FOXC1 B3GLCT ADAMTSL4 ADAMTSL2 ADAMTS17
5 persistent hyperplastic primary vitreous 31.1 PITX2 PAX6 FOXC1
6 axenfeld-rieger syndrome, type 3 31.1 PITX3 PITX2 PAX6 FOXE3 FOXC1
7 aniridia 1 31.0 PITX3 PITX2 PAX6 HCCS FOXE3 FOXC1
8 axenfeld-rieger syndrome 30.9 PTCH1 PITX3 PITX2 PAX6 FOXE3 FOXC1
9 corneal edema 30.9 SLC4A11 PITX2 CYP1B1
10 corneal staphyloma 30.9 PITX3 FOXE3 B3GLCT
11 anterior segment dysgenesis 1 30.9 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
12 primary congenital glaucoma 30.9 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
13 hypertelorism 30.8 PAX6 FOXC1 ELP4
14 microphthalmia 30.8 PITX3 PAX6 HCCS FOXE3
15 congenital disorder of glycosylation, type in 30.8 POMT2 POFUT2 B3GLCT
16 coloboma of macula 30.8 WDR37 PTCH1 PITX3 PITX2 PAX6 FOXE3
17 anterior segment dysgenesis 30.8 SLC4A11 POFUT2 PITX3 PITX2 PAX6 HCCS
18 megalocornea 30.8 PITX2 FOXC1 CYP1B1 ADAMTS17
19 congenital aphakia 30.8 PAX6 FOXE3
20 eye disease 30.6 SLC4A11 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
21 amblyopia 30.6 PITX3 PAX6 FOXE3
22 colobomatous microphthalmia 30.5 PTCH1 PITX3 PITX2 PAX6
23 isolated ectopia lentis 30.5 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS17
24 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.5 PITX2 PAX6 FOXE3 FOXC1 ELP4 B3GLCT
25 cataract 30.5 PITX3 PITX2 PAX6 FOXE3 FOXC1 ELP4
26 corneal disease 30.5 SLC4A11 PITX2 PAX6 FOXE3 FOXC1 B3GLCT
27 sclerocornea 30.4 SLC4A11 PITX3 PITX2 PAX6 HCCS FOXE3
28 axenfeld-rieger syndrome, type 1 30.4 PITX3 PITX2
29 anterior segment dysgenesis 6 11.5
30 anterior segment dysgenesis 4 11.4
31 anterior segment dysgenesis 3 11.4
32 cryptophthalmos, unilateral or bilateral, isolated 11.3
33 anterior segment dysgenesis 2 11.3
34 anterior segment dysgenesis 7 11.1
35 branchiootic syndrome 1 11.1
36 anterior segment dysgenesis 8 11.1
37 cleft lip 10.5
38 cleft lip/palate 10.5
39 retinal detachment 10.5
40 isolated aniridia 10.5 PAX6 FOXC1
41 acquired color blindness 10.4 PITX2 PAX6 FOXC1
42 brain small vessel disease 10.4 PITX3 FOXE3 B3GLCT
43 coloboma, ocular, autosomal dominant 10.4 WDR37 PAX6 ELP4
44 aniridia 2 10.4 PAX6 ELP4
45 intestinal atresia 10.4 PITX2 PAX6 FOXC1
46 foveal hypoplasia 1 10.4 PAX6 ELP4
47 gillespie syndrome 10.4 PITX2 PAX6 FOXC1 ELP4
48 radial nerve lesion 10.4 ADAMTSL2 ADAMTSL1
49 ehlers-danlos syndrome, dermatosparaxis type 10.4 ADAMTSL2 ADAMTSL1 ADAMTS20
50 microphthalmia, syndromic 3 10.4 PITX2 PAX6 HCCS 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 30 (show top 50) (show all 141)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peters anomaly 58 30 Obligate (100%) Very frequent (99-80%)
Obligate (100%)
HP:0000659
2 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
3 short neck 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000470
4 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
5 corneal opacity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007957
6 brachycephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000248
7 intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001511
8 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
9 short toe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001831
10 glaucoma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000501
11 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
12 clinodactyly of the 5th finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004209
13 thin upper lip vermilion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000219
14 long face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000276
15 long philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000343
16 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
17 round face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000311
18 anterior chamber synechiae 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007833
19 short foot 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001773
20 short columella 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002000
21 exaggerated cupid's bow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002263
22 anterior synechiae of the anterior chamber 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011483
23 subcapsular cataract 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000523
24 central opacification of the cornea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011493
25 thinning of descemet membrane 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0031159
26 frontal bossing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002007
27 nystagmus 58 30 Very rare (1%) Frequent (79-30%)
Very rare (<4-1%)
HP:0000639
28 hydrocephalus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000238
29 cataract 58 30 Frequent (33%) Frequent (79-30%)
HP:0000518
30 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
31 widely spaced teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000687
32 feeding difficulties in infancy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008872
33 prominent forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0011220
34 cleft palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000175
35 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
36 postnatal growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0008897
37 webbed neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000465
38 upslanted palpebral fissure 58 30 Frequent (33%) Frequent (79-30%)
HP:0000582
39 cleft upper lip 58 30 Frequent (33%) Frequent (79-30%)
HP:0000204
40 abnormal cardiac septum morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001671
41 preauricular skin tag 58 30 Frequent (33%) Frequent (79-30%)
HP:0000384
42 hypospadias 58 30 Frequent (33%) Frequent (79-30%)
HP:0000047
43 pulmonic stenosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001642
44 decreased fetal movement 58 30 Frequent (33%) Frequent (79-30%)
HP:0001558
45 microcornea 58 30 Frequent (33%) Frequent (79-30%)
HP:0000482
46 abnormality of the pulmonary artery 58 30 Frequent (33%) Frequent (79-30%)
HP:0004414
47 toe syndactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001770
48 preauricular pit 58 30 Frequent (33%) Frequent (79-30%)
HP:0004467
49 short palpebral fissure 58 30 Frequent (33%) Frequent (79-30%)
HP:0012745
50 microtia, second degree 58 30 Frequent (33%) Frequent (79-30%)
HP:0008569

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Neck:
short neck

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 Eyes:
cataract
glaucoma
peters anomaly
retinal coloboma
upslanting palpebral fissures
more
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 (Updated 24-Oct-2022)

UMLS symptoms related to Peters-Plus Syndrome:


seizures

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ADAMTS17 ADAMTS20 ADAMTS9 ADAMTSL1 ADAMTSL2 ADAMTSL4
2 no effect GR00402-S-2 10.17 ADAMTS20 ADAMTS9 ADAMTSL1 ADAMTSL2 ADAMTSL4 CYP1B1

MGI Mouse Phenotypes related to Peters-Plus Syndrome:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 ADAMTS17 ADAMTSL2 CYP1B1 FOXC1 FOXE3 HCCS
2 pigmentation MP:0001186 10.15 ADAMTS20 ADAMTS9 ADAMTSL4 B3GLCT FOXC1 PAX6
3 limbs/digits/tail MP:0005371 10.06 ADAMTS17 ADAMTS20 ADAMTS9 ADAMTSL2 B3GLCT FOXC1
4 embryo MP:0005380 10.06 ADAMTS20 ADAMTS9 FOXC1 HCCS PAX6 PITX2
5 muscle MP:0005369 10.02 ADAMTSL2 FOXC1 FOXE3 HCCS PAX6 PITX2
6 skeleton MP:0005390 9.96 ADAMTS17 ADAMTSL2 B3GLCT FOXC1 PAX6 PITX2
7 craniofacial MP:0005382 9.92 ADAMTS17 ADAMTS20 ADAMTS9 B3GLCT FOXC1 PAX6
8 digestive/alimentary MP:0005381 9.91 ADAMTS20 ADAMTS9 B3GLCT FOXC1 PAX6 PITX2
9 vision/eye MP:0005391 9.9 ADAMTS9 ADAMTSL4 B3GLCT CYP1B1 FOXC1 FOXE3
10 mortality/aging MP:0010768 9.77 ADAMTS17 ADAMTS20 ADAMTS9 ADAMTSL2 B3GLCT FOXC1
11 integument MP:0010771 9.28 ADAMTS17 ADAMTS20 ADAMTS9 ADAMTSL4 B3GLCT FOXC1

Drugs & Therapeutics for Peters-Plus Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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 28 PAX6
2 Peters Plus Syndrome 28 B3GLCT

Anatomical Context for Peters-Plus Syndrome

Organs/tissues related to Peters-Plus Syndrome:

MalaCards : Eye, Heart, Uterus, Kidney, Skin, Bone, Endothelial

Publications for Peters-Plus Syndrome

Articles related to Peters-Plus Syndrome:

(show top 50) (show all 477)
# Title Authors PMID Year
1
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. 62 24 57 5
16909395 2006
2
Novel B3GALTL mutation in Peters-plus Syndrome. 62 57 5
19796186 2009
3
Mutation analysis of B3GALTL in Peters Plus syndrome. 62 57 5
18798333 2008
4
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. 62 57 5
18199743 2008
5
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. 62 24 5
23161355 2013
6
The Peters' plus syndrome: a review. 62 24 57
12119218 2002
7
Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome. 62 24 57
1887847 1991
8
Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance. 62 24 57
1856836 1991
9
Peters'-plus: a new syndrome. 62 24 57
6443615 1984
10
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 53 62 5
11309364 2001
11
Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report. 62 5
32204707 2020
12
Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining. 62 5
31795264 2019
13
Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis. 62 5
26684045 2016
14
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. 62 5
23889335 2014
15
Absence of NR2E1 mutations in patients with aniridia. 62 5
23213277 2012
16
A case of aniridia with unilateral Peters anomaly. 62 5
21397818 2011
17
Peters Plus Syndrome 62 5
20301637 2007
18
Japanese girl with Krause-van Schooneveld-Kivlin syndrome: Peters anomaly with short-limb dwarfism: Peter-Plus syndrome. 62 57
1481836 1992
19
Peters' anomaly as a consequence of genetic and nongenetic syndromes. 62 57
3079999 1986
20
Upstream ORF frameshift variants in the PAX6 5'UTR cause congenital aniridia. 5
34174135 2021
21
Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains. 5
32360764 2020
22
Implication of non-coding PAX6 mutations in aniridia. 5
30291432 2018
23
[Long-term prognosis of Peters anomaly]. 62 24
28484852 2018
24
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. 5
29618921 2018
25
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 5
28321846 2017
26
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 5
28492532 2017
27
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 5
28559085 2017
28
8q21.11 microdeletion in two patients with syndromic peters anomaly. 62 24
27378168 2016
29
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. 5
26849621 2016
30
Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia. 5
27431685 2016
31
[Analysis of PAX6 gene mutation in a family affected with congenital aniridia]. 5
27455012 2016
32
Assessment of PAX6 alleles in 66 families with aniridia. 5
26661695 2016
33
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 5
26893459 2016
34
Survey of variation in human transcription factors reveals prevalent DNA binding changes. 5
27013732 2016
35
Genotype-phenotype correlation of PAX6 gene mutations in aniridia. 5
27081561 2016
36
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma. 5
27463523 2016
37
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. 5
27124303 2016
38
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 5
25741868 2015
39
Whole exome sequence analysis of Peters anomaly. 62 24
25182519 2014
40
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. 5
23942204 2014
41
Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families. 5
27081502 2014
42
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. 5
23757202 2013
43
A review of the clinical and genetic aspects of aniridia. 5
24138039 2013
44
11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia. 5
23761016 2013
45
An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene. 62 24
24427506 2013
46
Functional dissection of the paired domain of Pax6 reveals molecular mechanisms of coordinating neurogenesis and proliferation. 5
23404109 2013
47
Aniridia. 5
22692063 2012
48
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. 5
22509105 2012
49
Genetic and genomic analysis of classic aniridia in Saudi Arabia. 5
21423868 2011
50
Mutation spectrum of PAX6 in Chinese patients with aniridia. 5
21850189 2011

Variations for Peters-Plus Syndrome

ClinVar genetic disease variations for Peters-Plus Syndrome:

5 (show top 50) (show all 595)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B3GLCT NM_194318.4(B3GLCT):c.459+1G>A SNV Pathogenic
449340 rs767361165 GRCh37: 13:31822104-31822104
GRCh38: 13:31247967-31247967
2 B3GLCT NM_194318.4(B3GLCT):c.230dup (p.Leu77fs) DUP Pathogenic
1267 rs1593258510 GRCh37: 13:31803389-31803390
GRCh38: 13:31229252-31229253
3 B3GLCT NM_194318.4(B3GLCT):c.1178G>A (p.Gly393Glu) SNV Pathogenic
1268 rs267606675 GRCh37: 13:31891816-31891816
GRCh38: 13:31317679-31317679
4 B3GLCT NM_194318.4(B3GLCT):c.1167C>G (p.Tyr389Ter) SNV Pathogenic
1228388 GRCh37: 13:31891805-31891805
GRCh38: 13:31317668-31317668
5 B3GLCT NM_194318.4(B3GLCT):c.101_104del (p.Lys34fs) MICROSAT Pathogenic
1324051 GRCh37: 13:31789213-31789216
GRCh38: 13:31215076-31215079
6 PAX6 NM_001368894.2(PAX6):c.194G>T (p.Gly65Val) SNV Pathogenic
68469 rs587778874 GRCh37: 11:31823314-31823314
GRCh38: 11:31801766-31801766
7 CYP1B1 NM_000104.4(CYP1B1):c.1063_1075del (p.Arg355fs) DEL Pathogenic
417858 rs1064792896 GRCh37: 2:38298422-38298434
GRCh38: 2:38071279-38071291
8 ELP4, PAX6 NM_001368894.2(PAX6):c.1257_1263del (p.Gln420fs) DEL Pathogenic
460457 rs1554982299 GRCh37: 11:31811530-31811536
GRCh38: 11:31789982-31789988
9 PAX6 NM_001368894.2(PAX6):c.578_579insC (p.Gln193fs) INSERT Pathogenic
529891 rs1554983577 GRCh37: 11:31816323-31816324
GRCh38: 11:31794775-31794776
10 PAX6 NM_001368894.2(PAX6):c.139C>T (p.Gln47Ter) SNV Pathogenic
529892 rs1554985716 GRCh37: 11:31824254-31824254
GRCh38: 11:31802706-31802706
11 PAX6 and overlap with 1 gene(s) NC_000011.10:g.(?_31789914)_(31794829_?)del DEL Pathogenic
529893 GRCh37: 11:31811462-31816377
GRCh38: 11:31789914-31794829
12 PAX6 NM_001368894.2(PAX6):c.102_106delinsAACC (p.His34fs) INDEL Pathogenic
565950 rs1565245835 GRCh37: 11:31824287-31824291
GRCh38: 11:31802739-31802743
13 PAX6 NM_001368894.2(PAX6):c.114dup (p.Pro39fs) DUP Pathogenic
567776 rs1565245598 GRCh37: 11:31824278-31824279
GRCh38: 11:31802730-31802731
14 overlap with 7 genes NC_000011.9:g.(?_31284590)_(32456911_?)del DEL Pathogenic
583750 GRCh37: 11:31284590-32456911
GRCh38:
15 overlap with 5 genes NC_000011.10:g.(?_31664397)_(31794829_?)del DEL Pathogenic
584225 GRCh37: 11:31685945-31816377
GRCh38: 11:31664397-31794829
16 overlap with 5 genes NC_000011.9:g.(?_31284590)_(31832374_?)del DEL Pathogenic
647471 GRCh37: 11:31284590-31832374
GRCh38:
17 PAX6 NM_001368894.2(PAX6):c.78del (p.Gln27fs) DEL Pathogenic
430974 rs1131692286 GRCh37: 11:31824315-31824315
GRCh38: 11:31802767-31802767
18 PAX6 NM_001368894.2(PAX6):c.35del (p.Gly12fs) DEL Pathogenic
658913 rs1592564672 GRCh37: 11:31824358-31824358
GRCh38: 11:31802810-31802810
19 PAX6 NM_001368894.2(PAX6):c.1225+5G>A SNV Pathogenic
658957 rs1592366898 GRCh37: 11:31812253-31812253
GRCh38: 11:31790705-31790705
20 PAX6 NM_001368894.2(PAX6):c.817dup (p.Ser273fs) DUP Pathogenic
665256 rs1592416305 GRCh37: 11:31815340-31815341
GRCh38: 11:31793792-31793793
21 PAX6 NM_001368894.2(PAX6):c.358_359insA (p.Leu120fs) INSERT Pathogenic
835201 rs1953896100 GRCh37: 11:31823149-31823150
GRCh38: 11:31801601-31801602
22 PAX6 NM_001368894.2(PAX6):c.528G>A (p.Trp176Ter) SNV Pathogenic
379847 rs1057520755 GRCh37: 11:31822276-31822276
GRCh38: 11:31800728-31800728
23 PAX6 NM_001368894.2(PAX6):c.495_496delinsTT (p.Gln166Ter) INDEL Pathogenic
843371 rs1953513506 GRCh37: 11:31822308-31822309
GRCh38: 11:31800760-31800761
24 PAX6 NM_001368894.2(PAX6):c.808-1G>C SNV Pathogenic
800453 rs1592416538 GRCh37: 11:31815351-31815351
GRCh38: 11:31793803-31793803
25 PAX6 NM_001368894.2(PAX6):c.231_237del (p.Gly78fs) DEL Pathogenic
856041 rs1953961273 GRCh37: 11:31823271-31823277
GRCh38: 11:31801723-31801729
26 PAX6 NM_001368894.2(PAX6):c.62_65dup (p.Asp23fs) DUP Pathogenic
856320 rs1954534591 GRCh37: 11:31824327-31824328
GRCh38: 11:31802779-31802780
27 PAX6 NM_001368894.2(PAX6):c.527G>A (p.Trp176Ter) SNV Pathogenic
942257 rs1953478890 GRCh37: 11:31822277-31822277
GRCh38: 11:31800729-31800729
28 PAX6 NM_001368894.2(PAX6):c.1024_1030del (p.Ala342fs) DEL Pathogenic
943112 rs1950522383 GRCh37: 11:31815030-31815036
GRCh38: 11:31793482-31793488
29 PAX6 NM_001368894.2(PAX6):c.109del (p.Ala37fs) DEL Pathogenic
372438 rs1057517780 GRCh37: 11:31824284-31824284
GRCh38: 11:31802736-31802736
30 PAX6 NM_001368894.2(PAX6):c.1009del (p.Thr337fs) DEL Pathogenic
956853 rs1950537152 GRCh37: 11:31815051-31815051
GRCh38: 11:31793503-31793503
31 PAX6 NM_001368894.2(PAX6):c.532_536del (p.Pro178fs) DEL Pathogenic
965257 rs1953470546 GRCh37: 11:31822268-31822272
GRCh38: 11:31800720-31800724
32 PAX6 NM_001368894.2(PAX6):c.38G>C (p.Gly13Ala) SNV Pathogenic
988072 rs1954548195 GRCh37: 11:31824355-31824355
GRCh38: 11:31802807-31802807
33 PAX6 NM_001368894.2(PAX6):c.828G>C (p.Arg276Ser) SNV Pathogenic
988073 rs1950628459 GRCh37: 11:31815330-31815330
GRCh38: 11:31793782-31793782
34 PAX6 NM_001368894.2(PAX6):c.790_806del (p.Pro264fs) DEL Pathogenic
1069925 GRCh37: 11:31815581-31815597
GRCh38: 11:31794033-31794049
35 PAX6 NM_001368894.2(PAX6):c.483del (p.Met162fs) DEL Pathogenic
1070548 GRCh37: 11:31822321-31822321
GRCh38: 11:31800773-31800773
36 overlap with 2 genes NC_000011.9:g.(?_31804921)_(31816377_?)del DEL Pathogenic
1072682 GRCh37: 11:31804921-31816377
GRCh38:
37 PAX6 NM_001368894.2(PAX6):c.720del (p.Glu242fs) DEL Pathogenic
1075087 GRCh37: 11:31816182-31816182
GRCh38: 11:31794634-31794634
38 PAX6 NM_001368894.2(PAX6):c.-128-2del DEL Pathogenic
430969 rs1131692282 GRCh37: 11:31828475-31828475
GRCh38: 11:31806927-31806927
39 PAX6 NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter) SNV Pathogenic
3464 rs121907914 GRCh37: 11:31823159-31823159
GRCh38: 11:31801611-31801611
40 PAX6 NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys) SNV Pathogenic
3470 rs121907918 GRCh37: 11:31822380-31822380
GRCh38: 11:31800832-31800832
41 PAX6 NM_001368894.2(PAX6):c.-118_-117del DEL Pathogenic
559616 rs1554986858 GRCh37: 11:31828462-31828463
GRCh38: 11:31806914-31806915
42 PAX6 NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter) SNV Pathogenic
521078 rs1554985028 GRCh37: 11:31822294-31822294
GRCh38: 11:31800746-31800746
43 PAX6 NM_001368894.2(PAX6):c.829del (p.Ala277fs) DEL Pathogenic
1372939 GRCh37: 11:31815329-31815329
GRCh38: 11:31793781-31793781
44 PAX6 NM_001368894.2(PAX6):c.1061del (p.Asn354fs) DEL Pathogenic
1389199 GRCh37: 11:31814999-31814999
GRCh38: 11:31793451-31793451
45 PAX6 NM_001368894.2(PAX6):c.1086del (p.Ser363fs) DEL Pathogenic
1390086 GRCh37: 11:31812397-31812397
GRCh38: 11:31790849-31790849
46 PAX6 NM_001368894.2(PAX6):c.385_386dup (p.Asp129fs) DUP Pathogenic
1429880 GRCh37: 11:31823121-31823122
GRCh38: 11:31801573-31801574
47 overlap with 5 genes NC_000011.9:g.(?_31669269)_(32460464_?)del DEL Pathogenic
1454826 GRCh37: 11:31669269-32460464
GRCh38:
48 PAX6 NM_001368894.2(PAX6):c.1074+1G>C SNV Pathogenic
1434660 GRCh37: 11:31814985-31814985
GRCh38: 11:31793437-31793437
49 PAX6 NM_001368894.2(PAX6):c.417del (p.Val140fs) DEL Pathogenic
1459052 GRCh37: 11:31822387-31822387
GRCh38: 11:31800839-31800839
50 overlap with 5 genes NC_000011.9:g.(?_31284610)_(31828475_?)del DEL Pathogenic
1459677 GRCh37: 11:31284610-31828475
GRCh38:

Copy number variations for Peters-Plus Syndrome from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 76126 13 27800000 32900000 Deletion B3GLCT 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 RXFP2 Peters Plus syndrome
6 76131 13 27800000 32900000 Deletion Peters Plus syndrome
7 76132 13 27800000 32900000 Deletion Peters Plus syndrome

Expression for Peters-Plus Syndrome

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

Pathways for Peters-Plus Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 POMT2 POFUT2 PAX6 B3GLCT ADAMTSL4 ADAMTSL2
2
Show member pathways
13.45 POMT2 CYP1B1 B3GLCT ADAMTSL4 ADAMTSL2 ADAMTSL1
3
Show member pathways
12.46 ADAMTS17 ADAMTS20 ADAMTS9 ADAMTSL1 ADAMTSL2 ADAMTSL4
4
Show member pathways
11.98 POMT2 POFUT2 B3GLCT ADAMTSL4 ADAMTSL2 ADAMTSL1
5 11.73 PITX2 PAX6 FOXC1 ELP4
6
Show member pathways
11.44 POMT2 POFUT2 B3GLCT ADAMTSL4 ADAMTSL2 ADAMTSL1
7 10.71 PITX2 FOXC1

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 matrix GO:0031012 9.28 ADAMTSL4 ADAMTSL2 ADAMTS9 ADAMTS20 ADAMTS17

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 10.14 PTCH1 PITX3 PAX6 HCCS
2 anatomical structure morphogenesis GO:0009653 10.1 FOXC1 FOXE3 PITX2 PITX3
3 eye development GO:0001654 9.95 PAX6 FOXE3 FOXC1
4 lens development in camera-type eye GO:0002088 9.91 FOXE3 PAX6 PITX3
5 cornea development in camera-type eye GO:0061303 9.85 PAX6 FOXE3
6 lacrimal gland development GO:0032808 9.83 PAX6 FOXC1
7 fucose metabolic process GO:0006004 9.81 POFUT2 B3GLCT
8 positive regulation of core promoter binding GO:1904798 9.76 PAX6 FOXC1
9 positive regulation of melanocyte differentiation GO:0045636 9.71 ADAMTS9 ADAMTS20
10 protein O-linked fucosylation GO:0036066 9.67 POFUT2 B3GLCT
11 camera-type eye development GO:0043010 9.63 FOXC1 FOXE3 PAX6 PITX2
12 trabecular meshwork development GO:0002930 9.56 FOXE3 CYP1B1
13 iris morphogenesis GO:0061072 9.43 PITX2 PAX6 FOXE3
14 extracellular matrix organization GO:0030198 9.4 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS9 ADAMTS20 ADAMTS17
15 regulation of developmental pigmentation GO:0048070 9.32 ADAMTS9 ADAMTS20

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

# Name GO ID Score Top Affiliating Genes
1 metalloendopeptidase activity GO:0004222 9.23 ADAMTSL2 ADAMTSL1 ADAMTS9 ADAMTS20 ADAMTS17

Sources for Peters-Plus Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....