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 57 12 72 13 39
Peters Anomaly 12 73 20 43 58 36 44 15 39
Krause-Kivlin Syndrome 57 12 73 20 43 58 72 70
Peters Plus Syndrome 12 25 20 43 58 29 6 15
Irido-Corneo-Trabecular Dysgenesis 43 29 6
Peters Anomaly-Short Limb Dwarfism Syndrome 12 43
Peters Anomaly with Short-Limb Dwarfism 57 72
Peters Anomaly with Short Limb Dwarfism 20 58
Krause-Van Schooneveld-Kivlin Syndrome 43 58
Peters Congenital Glaucoma 43 58
Ptrpls 57 72
Peters' Plus Syndrome 43
Peters'-Plus Syndrome 43
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®:

57 (Updated 20-May-2021)
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® 57 261540
KEGG 36 H01075
ICD10 32 Q13.4
MESH via Orphanet 45 C537884
ICD10 via Orphanet 33 Q13.4 Q13.8
UMLS via Orphanet 71 C0796012
Orphanet 58 ORPHA708 ORPHA709
MedGen 41 C0796012
UMLS 70 C0796012

Summaries for Peters-Plus Syndrome

MedlinePlus Genetics : 43 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 1, 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, heart and uterus, 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.

GARD : 20 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® : 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 20-May-2021)

KEGG : 36 Peters anomaly is a subtype of anterior segment dysgenesis. 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 : 72 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 : 73 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 186)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 5 32.7 PTCH1 PAX6 ELP4 CYP1B1
2 anterior segment dysgenesis 1 32.5 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
3 anterior segment dysgenesis 2 32.3 PITX3 FOXE3
4 intraocular pressure quantitative trait locus 31.1 PITX2 PAX6 FOXC1 CYP1B1
5 brachydactyly 31.1 PTCH1 FOXC1 B3GLCT ADAMTSL2 ADAMTS17 ADAMTS10
6 persistent hyperplastic primary vitreous 31.0 PITX2 PAX6 FOXE3 FOXC1
7 aniridia 1 30.9 PITX3 PITX2 PAX6 FOXE3 FOXC1 ELP4
8 isolated aniridia 30.7 PAX6 FOXC1 ELP4
9 primary congenital glaucoma 30.7 PITX2 PAX6 FOXE3 FOXC1 CYP1B1 ADAMTS10
10 hypertelorism 30.7 PAX6 FOXC1 ELP4
11 coloboma of macula 30.7 PTCH1 PITX3 PITX2 PAX6 FOXE3 FOXC1
12 megalocornea 30.7 PITX2 FOXC1 CYP1B1 ADAMTS17 ADAMTS10
13 congenital aphakia 30.7 PAX6 FOXE3
14 anterior segment dysgenesis 30.7 POFUT2 PITX3 PITX2 PAX6 FOXE3 FOXC1
15 sclerocornea 30.6 PITX2 PAX6 FOXE3 B3GLCT
16 axenfeld-rieger syndrome 30.6 PTCH1 PITX3 PITX2 PAX6 FOXE3 FOXC1
17 amblyopia 30.6 PITX3 PAX6 FOXE3
18 isolated ectopia lentis 30.5 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS17 ADAMTS10
19 glaucoma 3, primary congenital, a 30.5 PITX2 PAX6 FOXE3 FOXC1 CYP1B1 ADAMTS17
20 axenfeld-rieger syndrome, type 3 30.5 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
21 colobomatous microphthalmia 30.4 PTCH1 PITX3 PITX2 PAX6
22 corneal disease 30.4 PITX2 PAX6 FOXE3 FOXC1 B3GLCT
23 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.4 PITX2 PAX6 FOXE3 FOXC1 ELP4
24 axenfeld-rieger syndrome, type 1 30.4 PITX3 PITX2 PAX6 FOXE3 FOXC1 B3GLCT
25 microphthalmia 30.4 PTCH1 PITX3 PITX2 PAX6 FOXE3 ELP4
26 juvenile glaucoma 30.3 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
27 cataract 30.3 PITX3 PITX2 PAX6 FOXE3 FOXC1 ELP4
28 eye disease 30.3 PITX2 PAX6 FOXC1 CYP1B1 ADAMTS17
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 branchiootic syndrome 1 11.1
34 corneal dystrophy and perceptive deafness 11.1
35 anterior segment dysgenesis 7 11.1
36 anterior segment dysgenesis 8 11.1
37 cataract microcornea syndrome 11.1
38 cleft lip 10.5
39 cleft lip/palate 10.5
40 tracheal stenosis 10.5 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
41 tracheal disease 10.5 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
42 winchester syndrome 10.5 ADAMTSL1 ADAMTS9 ADAMTS17
43 stiff skin syndrome 10.5 THBS1 ADAMTSL4 ADAMTSL2 ADAMTS10
44 phacolytic glaucoma 10.5 FOXE3 B3GLCT
45 acromicric dysplasia 10.5 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS17 ADAMTS10
46 retinal detachment 10.4
47 axenfeld-rieger syndrome, type 2 10.4 PITX2 FOXC1
48 aniridia 2 10.4 PAX6 ELP4
49 lens subluxation 10.4 PAX6 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
50 aniseikonia 10.4 PITX3 PAX6 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 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
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 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 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
27 nystagmus 58 31 very rare (1%) Frequent (79-30%),Very rare (<4-1%) HP:0000639
28 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
29 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
30 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
31 widely spaced teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000687
32 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
33 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
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®:

57 (Updated 20-May-2021)
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 20-May-2021)

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 GR00106-A-0 9.64 ELP4
2 Decreased viability GR00221-A-4 9.64 THBS1
3 Decreased viability GR00240-S-1 9.64 ADAMTS17 SPON1
4 Decreased viability GR00249-S 9.64 ADAMTS10 ADAMTSL1 CYP1B1 PITX2 PTCH1
5 Decreased viability GR00381-A-1 9.64 ADAMTS10 ADAMTS17
6 Decreased viability GR00381-A-2 9.64 ADAMTS17
7 Decreased viability GR00381-A-3 9.64 ADAMTS17
8 Decreased viability GR00386-A-1 9.64 PAX6 PTCH1
9 Decreased viability GR00402-S-2 9.64 ADAMTS17 ADAMTSL1 B3GLCT ELP4 PITX2 THBS1

MGI Mouse Phenotypes related to Peters-Plus Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 10.14 ADAMTS10 ADAMTS17 ADAMTS20 ADAMTS9 ADAMTSL4 B3GLCT
2 limbs/digits/tail MP:0005371 10.07 ADAMTS17 ADAMTS20 ADAMTS9 ADAMTSL2 B3GLCT FOXC1
3 craniofacial MP:0005382 10.06 ADAMTS17 ADAMTS20 ADAMTS9 B3GLCT FOXC1 PAX6
4 digestive/alimentary MP:0005381 10.03 ADAMTS20 ADAMTS9 B3GLCT FOXC1 PAX6 PITX2
5 pigmentation MP:0001186 9.91 ADAMTS20 ADAMTS9 ADAMTSL4 B3GLCT FOXC1 PAX6
6 muscle MP:0005369 9.87 ADAMTS10 ADAMTSL2 FOXC1 PAX6 PITX2 PTCH1
7 skeleton MP:0005390 9.73 ADAMTS10 ADAMTS17 ADAMTSL2 B3GLCT CFP FOXC1
8 respiratory system MP:0005388 9.7 ADAMTSL2 FOXC1 PAX6 PITX2 PITX3 PTCH1
9 vision/eye MP:0005391 9.36 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, Heart, Uterus, Kidney, Skin, Bone, Endothelial

Publications for Peters-Plus Syndrome

Articles related to Peters-Plus Syndrome:

(show top 50) (show all 445)
# Title Authors PMID Year
1
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. 6 25 57 61
16909395 2006
2
Novel B3GALTL mutation in Peters-plus Syndrome. 6 57 61
19796186 2009
3
Mutation analysis of B3GALTL in Peters Plus syndrome. 61 6 57
18798333 2008
4
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. 61 6 57
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. 25 6 61
23161355 2013
6
The Peters' plus syndrome: a review. 57 25 61
12119218 2002
7
Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome. 57 25 61
1887847 1991
8
Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance. 61 25 57
1856836 1991
9
Peters'-plus: a new syndrome. 57 25 61
6443615 1984
10
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 6 54 61
12721955 2003
11
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 6 61 54
11309364 2001
12
Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis. 6 61
26684045 2016
13
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. 61 6
23889335 2014
14
Absence of NR2E1 mutations in patients with aniridia. 6 61
23213277 2012
15
A case of aniridia with unilateral Peters anomaly. 61 6
21397818 2011
16
Peters Plus Syndrome 6 61
20301637 2007
17
PAX6 mutations reviewed. 54 6
9482572 1998
18
Japanese girl with Krause-van Schooneveld-Kivlin syndrome: Peters anomaly with short-limb dwarfism: Peter-Plus syndrome. 61 57
1481836 1992
19
Peters' anomaly as a consequence of genetic and nongenetic syndromes. 57 61
3079999 1986
20
[Long-term prognosis of Peters anomaly]. 25 61
28484852 2018
21
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. 6
29618921 2018
22
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants. 6
28488383 2017
23
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 6
28321846 2017
24
Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation. 6
29217025 2017
25
8q21.11 microdeletion in two patients with syndromic peters anomaly. 25 61
27378168 2016
26
Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia. 6
27431685 2016
27
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. 6
26849621 2016
28
[Analysis of PAX6 gene mutation in a family affected with congenital aniridia]. 6
27455012 2016
29
Assessment of PAX6 alleles in 66 families with aniridia. 6
26661695 2016
30
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 6
26893459 2016
31
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. 6
27124303 2016
32
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma. 6
27463523 2016
33
Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population. 6
27307692 2016
34
A rare PAX6 mutation in a Chinese family with congenital aniridia. 6
26535646 2015
35
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia. 6
25678763 2015
36
Whole exome sequence analysis of Peters anomaly. 25 61
25182519 2014
37
Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia. 6
24737507 2014
38
Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families. 6
27081502 2014
39
Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired. 6
24390526 2014
40
A review of the clinical and genetic aspects of aniridia. 6
24138039 2013
41
11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia. 6
23761016 2013
42
An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene. 25 61
24427506 2013
43
Mutation analysis of paired box 6 gene in inherited aniridia in northern China. 6
23734086 2013
44
Aniridia. 6
22692063 2012
45
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. 6
22171686 2012
46
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. 6
22509105 2012
47
Genetic and genomic analysis of classic aniridia in Saudi Arabia. 6
21423868 2011
48
Mutation spectrum of PAX6 in Chinese patients with aniridia. 6
21850189 2011
49
Aniridia phenotype and myopia in a turkish boy with a PAX6 gene mutation. 6
21848007 2011
50
Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations. 6
20577777 2010

Variations for Peters-Plus Syndrome

ClinVar genetic disease variations for Peters-Plus Syndrome:

6 (show top 50) (show all 414)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP1B1 NM_000104.3(CYP1B1):c.1063_1075del (p.Arg355fs) Deletion Pathogenic 417858 rs1064792896 GRCh37: 2:38298422-38298434
GRCh38: 2:38071279-38071291
2 PAX6 NM_001368894.2(PAX6):c.38G>C (p.Gly13Ala) SNV Pathogenic 988072 GRCh37: 11:31824355-31824355
GRCh38: 11:31802807-31802807
3 PAX6 NM_001368894.2(PAX6):c.828G>C (p.Arg276Ser) SNV Pathogenic 988073 GRCh37: 11:31815330-31815330
GRCh38: 11:31793782-31793782
4 B3GLCT NM_194318.4(B3GLCT):c.660+1G>A SNV Pathogenic 1264 rs80338851 GRCh37: 13:31843415-31843415
GRCh38: 13:31269278-31269278
5 B3GLCT NM_194318.4(B3GLCT):c.347+5G>A SNV Pathogenic 1265 rs80338850 GRCh37: 13:31821241-31821241
GRCh38: 13:31247104-31247104
6 B3GLCT NM_194318.4(B3GLCT):c.459+1G>A SNV Pathogenic 449340 rs767361165 GRCh37: 13:31822104-31822104
GRCh38: 13:31247967-31247967
7 B3GLCT NM_194318.4(B3GLCT):c.230dup (p.Leu77fs) Duplication Pathogenic 1267 rs1593258510 GRCh37: 13:31803389-31803390
GRCh38: 13:31229252-31229253
8 B3GLCT NM_194318.4(B3GLCT):c.1178G>A (p.Gly393Glu) SNV Pathogenic 1268 rs267606675 GRCh37: 13:31891816-31891816
GRCh38: 13:31317679-31317679
9 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) SNV Pathogenic 7737 rs72549387 GRCh37: 2:38302361-38302361
GRCh38: 2:38075218-38075218
10 B3GLCT NM_194318.4(B3GLCT):c.1098T>A (p.Tyr366Ter) SNV Pathogenic 21865 rs80338852 GRCh37: 13:31891736-31891736
GRCh38: 13:31317599-31317599
11 CYP1B1 NM_000104.3(CYP1B1):c.1200_1209dup (p.Thr404fs) Duplication Pathogenic 68466 rs587778873 GRCh37: 2:38298287-38298288
GRCh38: 2:38071144-38071145
12 PAX6 NM_000280.4(PAX6):c.152G>T (p.Gly51Val) SNV Pathogenic 68469 rs587778874 GRCh37: 11:31823314-31823314
GRCh38: 11:31801766-31801766
13 PAX6 NM_000280.4(PAX6):c.120C>A (p.Cys40Ter) SNV Pathogenic 460456 rs1329112134 GRCh37: 11:31824273-31824273
GRCh38: 11:31802725-31802725
14 PAX6 NM_000280.4(PAX6):c.495del (p.Thr166fs) Deletion Pathogenic 460463 rs1554984996 GRCh37: 11:31822267-31822267
GRCh38: 11:31800719-31800719
15 PAX6 NM_000280.4(PAX6):c.718C>T (p.Arg240Ter) SNV Pathogenic 3467 rs121907917 GRCh37: 11:31815627-31815627
GRCh38: 11:31794079-31794079
16 PAX6 NM_000280.4(PAX6):c.357+4A>T SNV Pathogenic 460459 rs1554985282 GRCh37: 11:31823105-31823105
GRCh38: 11:31801557-31801557
17 ELP4 , PAX6 NM_019040.5(ELP4):c.*6459_*6465del Deletion Pathogenic 460457 rs1554982299 GRCh37: 11:31811530-31811536
GRCh38: 11:31789982-31789988
18 PAX6 NM_000280.4(PAX6):c.607C>T (p.Arg203Ter) SNV Pathogenic 3466 rs121907916 GRCh37: 11:31816253-31816253
GRCh38: 11:31794705-31794705
19 PAX6 NM_000280.4(PAX6):c.3G>A (p.Met1Ile) SNV Pathogenic 460461 rs1554986754 GRCh37: 11:31827957-31827957
GRCh38: 11:31806409-31806409
20 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) SNV Pathogenic 279862 rs886041222 GRCh37: 11:31815335-31815335
GRCh38: 11:31793787-31793787
21 PAX6 NM_001368911.1(PAX6):c.1078-814_1078-810dup Duplication Pathogenic 460455 rs1554982609 GRCh37: 11:31812376-31812377
GRCh38: 11:31790828-31790829
22 PAX6 NM_000280.4(PAX6):c.470del (p.Gly157fs) Deletion Pathogenic 460462 rs1554985024 GRCh37: 11:31822292-31822292
GRCh38: 11:31800744-31800744
23 PAX6 NM_000280.4(PAX6):c.358delG Deletion Pathogenic 284286 rs886042838 GRCh37: 11:31822404-31822404
GRCh38: 11:31800856-31800856
24 PAX6 NM_000280.4(PAX6):c.325G>T (p.Glu109Ter) SNV Pathogenic 492993 rs1554985305 GRCh37: 11:31823141-31823141
GRCh38: 11:31801593-31801593
25 PAX6 NM_000280.4(PAX6):c.1A>C (p.Met1Leu) SNV Pathogenic 430972 rs1131692284 GRCh37: 11:31827959-31827959
GRCh38: 11:31806411-31806411
26 PAX6 NM_000280.4(PAX6):c.536_537insC (p.Gln179fs) Insertion Pathogenic 529891 rs1554983577 GRCh37: 11:31816323-31816324
GRCh38: 11:31794775-31794776
27 PAX6 NM_000280.4(PAX6):c.511C>T (p.Gln171Ter) SNV Pathogenic 430998 rs1131692308 GRCh37: 11:31822251-31822251
GRCh38: 11:31800703-31800703
28 PAX6 NM_000280.4(PAX6):c.52G>C (p.Gly18Arg) SNV Pathogenic 289849 rs886044289 GRCh37: 11:31824341-31824341
GRCh38: 11:31802793-31802793
29 PAX6 NM_000280.4(PAX6):c.139C>T (p.Gln47Ter) SNV Pathogenic 529892 rs1554985716 GRCh37: 11:31824254-31824254
GRCh38: 11:31802706-31802706
30 PAX6 NM_000280.4(PAX6):c.949C>T (p.Arg317Ter) SNV Pathogenic 372444 rs1057517785 GRCh37: 11:31815069-31815069
GRCh38: 11:31793521-31793521
31 PAX6 NM_001310160.1(PAX6):c.-680_-676delinsAACC Indel Pathogenic 565950 rs1565245835 GRCh37: 11:31824287-31824291
GRCh38: 11:31802739-31802743
32 PAX6 NM_000280.4(PAX6):c.114dup (p.Pro39fs) Duplication Pathogenic 567776 rs1565245598 GRCh37: 11:31824278-31824279
GRCh38: 11:31802730-31802731
33 PAX6 NM_000280.4(PAX6):c.403C>T (p.Gln135Ter) SNV Pathogenic 430994 rs1131692304 GRCh37: 11:31822359-31822359
GRCh38: 11:31800811-31800811
34 PAX6 NM_000280.4(PAX6):c.357+1G>A SNV Pathogenic 92758 rs398123295 GRCh37: 11:31823108-31823108
GRCh38: 11:31801560-31801560
35 overlap with 5 genes NC_000011.10:g.(?_31664397)_(31794829_?)del Deletion Pathogenic 584225 GRCh37: 11:31685945-31816377
GRCh38: 11:31664397-31794829
36 ELP4 , PAX6 NM_019040.5(ELP4):c.*6411T>A SNV Pathogenic 3474 rs121907922 GRCh37: 11:31811483-31811483
GRCh38: 11:31789935-31789935
37 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) SNV Pathogenic 279862 rs886041222 GRCh37: 11:31815335-31815335
GRCh38: 11:31793787-31793787
38 overlap with 5 genes NC_000011.9:g.(?_31284590)_(31832374_?)del Deletion Pathogenic 647471 GRCh37: 11:31284590-31832374
GRCh38:
39 PAX6 NM_001310160.1(PAX6):c.-704del Deletion Pathogenic 430974 rs1131692286 GRCh37: 11:31824315-31824315
GRCh38: 11:31802767-31802767
40 ELP4 , PAX6 NM_019040.5(ELP4):c.*6411T>A SNV Pathogenic 3474 rs121907922 GRCh37: 11:31811483-31811483
GRCh38: 11:31789935-31789935
41 PAX6 NC_000011.10:g.(?_31794610)_(31794829_?)del Deletion Pathogenic 651831 GRCh37: 11:31816158-31816377
GRCh38: 11:31794610-31794829
42 PAX6 NM_000280.4(PAX6):c.112del (p.Arg38fs) Deletion Pathogenic 651977 rs1592563428 GRCh37: 11:31824281-31824281
GRCh38: 11:31802733-31802733
43 PAX6 NM_001310160.1(PAX6):c.-747del Deletion Pathogenic 658913 rs1592564672 GRCh37: 11:31824358-31824358
GRCh38: 11:31802810-31802810
44 PAX6 NM_000280.4(PAX6):c.1183+5G>A SNV Pathogenic 658957 rs1592366898 GRCh37: 11:31812253-31812253
GRCh38: 11:31790705-31790705
45 PAX6 NM_000280.4(PAX6):c.775dup (p.Ser259fs) Duplication Pathogenic 665256 rs1592416305 GRCh37: 11:31815340-31815341
GRCh38: 11:31793792-31793793
46 PAX6 NM_000280.4(PAX6):c.316_317insA (p.Leu106fs) Insertion Pathogenic 835201 GRCh37: 11:31823149-31823150
GRCh38: 11:31801601-31801602
47 overlap with 7 genes NC_000011.9:g.(?_31284590)_(32456911_?)del Deletion Pathogenic 583750 GRCh37: 11:31284590-32456911
GRCh38:
48 PAX6 and overlap with 3 gene(s) NC_000011.10:g.(?_31789934)_(31806411_?)del Deletion Pathogenic 529895 GRCh37: 11:31811482-31827959
GRCh38: 11:31789934-31806411
49 PAX6 and overlap with 1 gene(s) NC_000011.10:g.(?_31789914)_(31794829_?)del Deletion Pathogenic 529893 GRCh37: 11:31811462-31816377
GRCh38: 11:31789914-31794829
50 PAX6 NM_000280.4(PAX6):c.486G>A (p.Trp162Ter) SNV Pathogenic 379847 rs1057520755 GRCh37: 11:31822276-31822276
GRCh38: 11:31800728-31800728

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 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

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 9.96 THBS1 SPON1 CFP ADAMTSL4 ADAMTSL2 ADAMTSL1
2 endoplasmic reticulum lumen GO:0005788 9.55 THBS1 SPON1 CFP ADAMTSL4 ADAMTSL1
3 collagen-containing extracellular matrix GO:0062023 9.5 THBS1 SPON1 CFP ADAMTSL4 ADAMTS9 ADAMTS20
4 extracellular matrix GO:0031012 9.28 THBS1 SPON1 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS9

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.8 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS9 ADAMTS20 ADAMTS17
2 anatomical structure morphogenesis GO:0009653 9.67 PITX3 PITX2 FOXE3 FOXC1
3 eye development GO:0001654 9.61 PAX6 FOXE3 FOXC1
4 lens development in camera-type eye GO:0002088 9.58 PITX3 PAX6 FOXE3
5 cell fate determination GO:0001709 9.54 PTCH1 PAX6
6 cornea development in camera-type eye GO:0061303 9.52 PAX6 FOXE3
7 positive regulation of core promoter binding GO:1904798 9.51 PAX6 FOXC1
8 lacrimal gland development GO:0032808 9.49 PAX6 FOXC1
9 fucose metabolic process GO:0006004 9.48 POFUT2 B3GLCT
10 protein O-linked fucosylation GO:0036066 9.46 POFUT2 B3GLCT
11 camera-type eye development GO:0043010 9.46 PITX2 PAX6 FOXE3 FOXC1
12 trabecular meshwork development GO:0002930 9.32 FOXE3 CYP1B1
13 extracellular matrix organization GO:0030198 9.23 THBS1 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS9 ADAMTS20
14 iris morphogenesis GO:0061072 9.13 PITX2 PAX6 FOXE3

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.55 PITX3 PITX2 PAX6 FOXE3 FOXC1
2 metallopeptidase activity GO:0008237 9.26 ADAMTS9 ADAMTS20 ADAMTS17 ADAMTS10
3 metalloendopeptidase activity GO:0004222 9.17 ADAMTSL4 ADAMTSL2 ADAMTSL1 ADAMTS9 ADAMTS20 ADAMTS17

Sources for Peters-Plus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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