Peters Anomaly malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Metabolic diseases, Fetal diseases categories

Aliases & Classifications for Peters Anomaly

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46OMIM, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet, 34MESH via Orphanet
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Aliases & Descriptions for Peters Anomaly:

Name: Peters Anomaly 46 9 42 21 48
Peters Plus Syndrome 19 42 20 21 48
Krause-Kivlin Syndrome 42 21 48 61
Krause-Van Schooneveld-Kivlin Syndrome 42 21 48
Peters Congenital Glaucoma 42 21 48
Peters-Plus Syndrome 46 9 19
Peters Anomaly with Short Limb Dwarfism 42 48
Irido-Corneo-Trabecular Dysgenesis 21 22
Anomaly Peters 44 22
Peters Anomaly-Short Limb Dwarfism Syndrome 21
Peters'-Plus Syndrome 21
Peters' Plus Syndrome 21


Characteristics (Orphanet epidemiological data):

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

External Ids:

Orphanet48 709, 708
ICD10 via Orphanet26 Q13.4
MESH via Orphanet34 C537884

Summaries for Peters Anomaly

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Genetics Home Reference:21 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.

MalaCards based summary: Peters Anomaly, also known as peters plus syndrome, is related to aniridia and cataract, and has symptoms including corneal opacity, microcornea and thin vermilion border. An important gene associated with Peters Anomaly is PAX6 (paired box 6), and among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and TGF-beta Signaling Pathway. The compounds hyaluronic acid and benzo(a)pyrene have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and uterus, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

NIH Rare Diseases:42 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. 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. last updated: 9/22/2010

Wikipedia:64 Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior... more...

Descriptions from OMIM:46 604229,261540

GeneReviews summary for peters-plus

Related Diseases for Peters Anomaly

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Diseases related to Peters Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1aniridia30.7FOXC1, PITX2, PAX6, FOXE3
2cataract30.5TGFB2, PAX6, MYOC
3retinoblastoma29.6HDAC9, TGFB2, PAX6, RB1, RBL2
4primary congenital glaucoma10.5CYP1B1
5anterior segment mesenchymal dysgenesis10.5FOXE3
8primary angle-closure glaucoma10.4MYOC
9glaucoma 1a, primary open angle10.4CYP1B1, MYOC
10glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.4MYOC, CYP1B1
11agenesis of the corpus callosum10.4
13peters anomaly - cataract10.3
14axenfeld-rieger syndrome, type 310.3CYP1B1, FOXC1, PITX2
15corneal dystrophy10.3MYOC, PAX6
16developmental disabilities10.3PITX2, PAX6, FOXC1
17glaucoma 1, open angle, e10.3TGFB2, CYP1B1, MYOC
18open-angle glaucoma10.3MYOC, TGFB2, CYP1B1
19congenital aphakia10.2
20corneal staphyloma10.2
21persistent hyperplastic primary vitreous10.2
24osteochondroma10.2TGFB2, EXT1
26hypoplastic left heart syndrome10.2
27cleft lip10.2
28congenital hypothyroidism10.2
31growth hormone deficiency10.2
33mental retardation10.2FOXC1, SOX3, PAX6
34keloids10.2TGFB2, SMAD2
35lung cancer10.1HDAC9
36spiradenoma10.1FOXC1, TGFB2, PAX6, PITX2, MYOC
37muscular dystrophy-dystroglycanopathy , type a, 710.1
39muscular dystrophy-dystroglycanopathy , type a, 110.1
40muscular dystrophy-dystroglycanopathy , type a, 210.1
41chromosome 17q12 duplication syndrome10.1
42digeorge syndrome10.1
43wagr syndrome10.1
46unilateral retinoblastoma10.1

Graphical network of the top 20 diseases related to Peters Anomaly:

Diseases related to peters anomaly

Symptoms for Peters Anomaly

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (show all 72)
  • brachycephaly/flat occiput
  • round face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • glaucoma
  • anterior chamber anomaly
  • iridocorneal/iridolenticular synechiae
  • corneal clouding/opacity/vascularisation
  • short columella/depressed nasal tip
  • thin/retracted lips
  • exaggerated cupid bows
  • long philtrum
  • short limbs/micromelia/brachymelia
  • short hand/brachydactyly
  • clinodactyly of fifth finger
  • short foot/brachydactyly of toes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • frontal bossing/prominent forehead
  • hypertelorism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • microcornea
  • cataract/lens opacification
  • nystagmus
  • blepharophimosis/short palpebral fissures
  • cleft lip and palate
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • preauricular/branchial tags/appendages
  • webbed neck/pterygium colli
  • syndactyly of toes
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • cardiac septal defect
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • coloboma of iris
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • short/small nose
  • depressed nasal bridge
  • anteverted nares/nostrils
  • macrostomia/big mouth
  • low set ears/posteriorly rotated ears
  • conductive deafness/hearing loss
  • abnormally placed nipples
  • spina bifida occulta
  • sacral sinus/dimple
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • intestinal/bowel fistulae
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • agenesis/hypoplasia/aplasia of kidneys
  • multicystic kidney/renal dysplasia
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • uterine/uterus/fallopian tubes anomalies
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • corpus callosum/septum pellucidum total/partial agenesis
  • early death/lethality
  • polyhydramnios
  • anomalies of eyes and vision
  • corneal dystrophy
  • hypoplastic mandibula/partial absence of the mandibula
  • dental malocclusion
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus
  • anomalies of teeth and dentition

HPO human phenotypes related to Peters Anomaly:

(show all 146)
id Description Frequency HPO Source Accession
1 corneal opacity hallmark (90%) HP:0007957
2 microcornea hallmark (90%) HP:0000482
3 thin vermilion border hallmark (90%) HP:0000233
4 round face hallmark (90%) HP:0000311
5 long philtrum hallmark (90%) HP:0000343
6 micrognathia hallmark (90%) HP:0000347
7 glaucoma hallmark (90%) HP:0000501
8 brachydactyly syndrome hallmark (90%) HP:0001156
9 intrauterine growth retardation hallmark (90%) HP:0001511
10 short toe hallmark (90%) HP:0001831
11 exaggerated cupid's bow hallmark (90%) HP:0002263
12 micromelia hallmark (90%) HP:0002983
13 clinodactyly of the 5th finger hallmark (90%) HP:0004209
14 short stature hallmark (90%) HP:0004322
15 opacification of the corneal stroma hallmark (90%) HP:0007759
16 anterior chamber synechiae hallmark (90%) HP:0007833
17 cognitive impairment hallmark (90%) HP:0100543
18 congenital glaucoma common (75%) HP:0001087
19 corneal dystrophy typical (50%) HP:0001131
20 cryptorchidism typical (50%) HP:0000028
21 oral cleft typical (50%) HP:0000202
22 hypertelorism typical (50%) HP:0000316
23 preauricular skin tag typical (50%) HP:0000384
24 webbed neck typical (50%) HP:0000465
25 microcornea typical (50%) HP:0000482
26 cataract typical (50%) HP:0000518
27 blepharophimosis typical (50%) HP:0000581
28 upslanted palpebral fissure typical (50%) HP:0000582
29 nystagmus typical (50%) HP:0000639
30 abnormality of the cardiac septa typical (50%) HP:0001671
31 toe syndactyly typical (50%) HP:0001770
32 frontal bossing typical (50%) HP:0002007
33 abnormality of the pulmonary artery typical (50%) HP:0004414
34 displacement of the external urethral meatus typical (50%) HP:0100627
35 nystagmus 32% HP:0000639
36 intellectual disability, progressive 20% HP:0006887
37 strabismus 16% HP:0000486
38 micrognathia occasional (7.5%) HP:0000347
39 cataract occasional (7.5%) HP:0000518
40 nystagmus occasional (7.5%) HP:0000639
41 dental malocclusion occasional (7.5%) HP:0000689
42 opacification of the corneal stroma occasional (7.5%) HP:0007759
43 aplasia/hypoplasia of the lens occasional (7.5%) HP:0008063
44 multicystic kidney dysplasia occasional (7.5%) HP:0000003
45 abnormality of female internal genitalia occasional (7.5%) HP:0000008
46 abnormality of female external genitalia occasional (7.5%) HP:0000055
47 abnormality of the ureter occasional (7.5%) HP:0000069
48 wide mouth occasional (7.5%) HP:0000154
49 microcephaly occasional (7.5%) HP:0000252
50 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
51 conductive hearing impairment occasional (7.5%) HP:0000405
52 anteverted nares occasional (7.5%) HP:0000463
53 visual impairment occasional (7.5%) HP:0000505
54 iris coloboma occasional (7.5%) HP:0000612
55 optic atrophy occasional (7.5%) HP:0000648
56 anterior hypopituitarism occasional (7.5%) HP:0000830
57 sacral dimple occasional (7.5%) HP:0000960
58 umbilical hernia occasional (7.5%) HP:0001537
59 polyhydramnios occasional (7.5%) HP:0001561
60 ventriculomegaly occasional (7.5%) HP:0002119
61 cerebral cortical atrophy occasional (7.5%) HP:0002120
62 short nose occasional (7.5%) HP:0003196
63 spina bifida occulta occasional (7.5%) HP:0003298
64 abnormality of the nipple occasional (7.5%) HP:0004404
65 depressed nasal bridge occasional (7.5%) HP:0005280
66 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
67 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
68 urogenital fistula occasional (7.5%) HP:0100589
69 intestinal fistula occasional (7.5%) HP:0100819
70 autosomal recessive inheritance HP:0000007
71 hypoplasia of the uterus HP:0000013
72 cryptorchidism HP:0000028
73 hypospadias HP:0000047
74 hypoplastic labia majora HP:0000059
75 clitoral hypoplasia HP:0000060
76 ureteral duplication HP:0000073
77 hydronephrosis HP:0000126
78 cleft palate HP:0000175
79 short lingual frenulum HP:0000200
80 cleft upper lip HP:0000204
81 thin upper lip vermilion HP:0000219
82 hydrocephalus HP:0000238
83 microcephaly HP:0000252
84 macrocephaly HP:0000256
85 wide anterior fontanel HP:0000260
86 round face HP:0000311
87 hypertelorism HP:0000316
88 long philtrum HP:0000343
89 micrognathia HP:0000347
90 stenosis of the external auditory canal HP:0000402
91 protruding ear HP:0000411
92 webbed neck HP:0000465
93 broad neck HP:0000475
94 retinal coloboma HP:0000480
95 glaucoma HP:0000501
96 ptosis HP:0000508
97 cataract HP:0000518
98 myopia HP:0000545
99 upslanted palpebral fissure HP:0000582
100 iris coloboma HP:0000612
101 nystagmus HP:0000639
102 peters anomaly HP:0000659
103 agenesis of maxillary lateral incisor HP:0000690
104 pectus excavatum HP:0000767
105 single transverse palmar crease HP:0000954
106 biliary tract abnormality HP:0001080
107 syndactyly HP:0001159
108 seizures HP:0001250
109 agenesis of corpus callosum HP:0001274
110 craniosynostosis HP:0001363
111 joint laxity HP:0001388
112 intrauterine growth retardation HP:0001511
113 umbilical hernia HP:0001537
114 diastasis recti HP:0001540
115 polyhydramnios HP:0001561
116 ventricular septal defect HP:0001629
117 defect in the atrial septum HP:0001631
118 pulmonic stenosis HP:0001642
119 pes cavus HP:0001761
120 short foot HP:0001773
121 frontal bossing HP:0002007
122 cerebral atrophy HP:0002059
123 ventriculomegaly HP:0002119
124 facial hypertrichosis HP:0002219
125 exaggerated cupid's bow HP:0002263
126 scoliosis HP:0002650
127 hemivertebrae HP:0002937
128 limited elbow movement HP:0002996
129 square pelvis HP:0003278
130 birth length less than 3rd percentile HP:0003561
131 clinodactyly of the 5th finger HP:0004209
132 short palm HP:0004279
133 decreased body weight HP:0004325
134 preauricular pit HP:0004467
135 bilobate gallbladder HP:0005608
136 wide intermamillary distance HP:0006610
137 microtia, second degree HP:0008569
138 hypoplasia of the vagina HP:0008726
139 feeding difficulties in infancy HP:0008872
140 postnatal growth retardation HP:0008897
141 rhizomelia HP:0008905
142 proximal placement of thumb HP:0009623
143 short metacarpal HP:0010049
144 short metatarsal HP:0010743
145 conical incisor HP:0011065
146 prominent forehead HP:0011220

Drugs & Therapeutics for Peters Anomaly

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Drug clinical trials:

Search ClinicalTrials for Peters Anomaly

Search NIH Clinical Center for Peters Anomaly

Genetic Tests for Peters Anomaly

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Genetic tests related to Peters Anomaly:

id Genetic test Affiliating Genes
1 Peters Plus Syndrome20 22 B3GALTL
2 Peters Anomaly20 PITX2
3 Irido-Corneo-Trabecular Dysgenesis22

Anatomical Context for Peters Anomaly

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MalaCards organs/tissues related to Peters Anomaly:

Eye, Kidney, Uterus, Testes, Skin

Animal Models for Peters Anomaly or affiliated genes

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MGI Mouse Phenotypes related to Peters Anomaly:

35 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8PITX2, RB1, FOXC1, PAX6
2MP:00053778.5PAX6, TGFB2, EXT1, RB1
3MP:00053698.1HDAC9, PITX2, PAX6, FOXC1, RB1, RBL2
4MP:00053717.9TGFB2, FOXC1, EXT1, RB1, RBL2, PITX2
5MP:00053887.9FOXC1, RBL2, RB1, PAX6, TGFB2, SMAD2
6MP:00053817.7PITX2, SMAD2, TGFB2, PAX6, FOXC1, EXT1
7MP:00020067.6SMAD2, PAX6, RB1, RBL2, EXT1, CYP1B1
8MP:00053797.5FOXC1, TGFB2, RB1, PAX6, SOX3, SMAD2
9MP:00053897.5RBL2, PAX6, SMAD2, TGFB2, SOX3, FOXC1
10MP:00053857.3PITX2, PAX6, HDAC9, FOXC1, FOXE3, SMAD2
11MP:00053907.3FOXC1, EXT1, RBL2, TGFB2, PAX6, SMAD2
12MP:00028737.3FOXC1, RB1, SMAD2, PITX2, EXT1, PAX6
13MP:00030127.2RBL2, RB1, EXT1, MYOC, SMAD2, SOX3
14MP:00107717.2RBL2, PAX6, FOXC1, EXT1, RB1, SMAD2
15MP:00053767.1CYP1B1, PITX2, SMAD2, RBL2, FOXC1, PAX6
16MP:00053827.0RBL2, RB1, EXT1, SMAD2, PITX2, TGFB2
17MP:00053806.9PITX2, SMAD2, TGFB2, SOX3, FOXC1, RB1
18MP:00053846.8PITX2, PAX6, FOXC1, RB1, SOX3, RBL2
19MP:00036316.6SMAD2, RBL2, RB1, PITX2, TGFB2, SOX3
20MP:00053786.6SOX3, PAX6, TGFB2, FOXC1, EXT1, RB1
21MP:00107686.5SOX3, HDAC9, PITX2, SMAD2, TGFB2, FOXC1
22MP:00053916.4MYOC, FOXE3, PITX2, CYP1B1, SMAD2, TGFB2

Publications for Peters Anomaly

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Articles related to Peters Anomaly:

(show all 41)
A Case of WAGR Syndrome with Peters' Anomaly. (25902081)
Intravitreal Injection of Bevacizumab for Retinopathy of Prematurity in an Infant with Peters Anomaly. (25408672)
A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1. (24024747)
Cataract surgery for tilted lens in peters' anomaly type 2. (24163681)
Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report. (22251706)
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. (21150893)
Unilateral Peters' anomaly with chorioretinal coloboma in the other eye. (21976945)
Histopathological features in a case of peters' anomaly with acquired corneal staphyloma. (22606460)
A case of aniridia with unilateral Peters anomaly. (21397818)
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. (19461663)
A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly. (20405024)
Classic galactosemia presenting with unilateral Peters' anomaly. (20516712)
Unilateral retinoblastoma in an eye with Peters anomaly. (20451864)
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly. (21067481)
Heparan sulfate deficiency leads to Peters anomaly in mice by disturbing neural crest TGF-beta2 signaling. (19509472)
A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum. (18616618)
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. (18498376)
Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. (17994562)
Further support of the role of CYP1B1 in patients with Peters anomaly. (16735991)
Corneal perforation with secondary congenital aphakia in Peters anomaly. (15604880)
A compound heterozygous change found in Peters' anomaly. (15682044)
Unilateral Peters' anomaly in a patient with DiGeorge syndrome. (16250223)
A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly. (15090434)
Molecular basis of Peters anomaly in Saudi Arabia. (15621878)
Peters' anomaly with bilateral perisylvian polymicrogyria and abdominal calcification. (15198724)
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. (12614756)
Corneoscleral transplantation in congenital corneal staphyloma and Peters' anomaly. (12660867)
Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly. (12706107)
Foxe3 haploinsufficiency in mice: a model for Peters' anomaly. (11980846)
Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. (11734512)
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. (11403040)
A mutation in the RIEG1 gene associated with Peters' anomaly. (10051017)
Congenital aphakia in Peters' anomaly syndrome. A case report. (9469564)
Corneal coloboma, aphakia and retinal neovascularization with anterior segment dysgenesis (Peters' anomaly). (8887396)
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. (8162071)
Multiple congenital contractures (arthrogryposis) in association with Peters' anomaly and chorioretinal colobomata. (1287175)
Japanese girl with Krause-van Schooneveld-Kivlin syndrome: Peters anomaly with short-limb dwarfism: Peter-Plus syndrome. (1481836)
Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance. (1856836)
Congenital corneal opacity (Peters' anomaly) combined with buphthalmos and aniridia. (3934622)
Peters' anomaly: dominant inheritance in one pedigree and dextrocardia in another. (105120)
Peters' anomaly and total posterior coloboma of retinal pigment epithelium and choroid. (4623873)

Variations for Peters Anomaly

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UniProtKB/Swiss-Prot genetic disease variations for Peters Anomaly:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Peters Anomaly:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1B3GALTLNM_194318.3(B3GALTL): c.660+1G> Asingle nucleotide variantPathogenicrs80338851GRCh37Chr 13, 31843415: 31843415
2B3GALTLNM_194318.3(B3GALTL): c.347+5G> Asingle nucleotide variantPathogenicrs80338850GRCh37Chr 13, 31821241: 31821241
3B3GALTLB3GALTL, IVS6, G-A, +1single nucleotide variantPathogenic
4B3GALTLB3GALTL, 1-BP INS, 230TinsertionPathogenic
5B3GALTLNM_194318.3(B3GALTL): c.1178G> A (p.Gly393Glu)single nucleotide variantPathogenicrs267606675GRCh37Chr 13, 31891816: 31891816
6B3GALTLNM_194318.3(B3GALTL): c.1098T> A (p.Tyr366Ter)single nucleotide variantPathogenicrs80338852GRCh37Chr 13, 31891736: 31891736
7PAX6NM_000280.4(PAX6): c.76C> G (p.Arg26Gly)single nucleotide variantPathogenicrs121907913GRCh37Chr 11, 31824317: 31824317
8PAX6NM_001604.5(PAX6): c.161T> A (p.Val54Asp)single nucleotide variantPathogenicrs121907921GRCh37Chr 11, 31823441: 31823441
9CYP1B1NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs)duplicationPathogenicGRCh37Chr 2, 38298288: 38298297
10PAX6NM_000280.4(PAX6): c.152G> T (p.Gly51Val)single nucleotide variantPathogenicGRCh37Chr 11, 31823314: 31823314
11CYP1B1NM_000104.3(CYP1B1): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs72549389GRCh37Chr 2, 38302530: 38302530
12CYP1B1NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter)single nucleotide variantPathogenicrs72549387GRCh37Chr 2, 38302361: 38302361
13PITX2PITX2, IVS3AS, A-T, -2single nucleotide variantPathogenic
14FOXC1NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser)single nucleotide variantPathogenicrs104893951GRCh37Chr 6, 1611015: 1611015
15FOXC1FOXC1, DUPduplicationPathogenic
16FOXC1NM_001453.2(FOXC1): c.358C> T (p.Gln120Ter)single nucleotide variantPathogenicrs121909339GRCh37Chr 6, 1611038: 1611038

Expression for genes affiliated with Peters Anomaly

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Search GEO for disease gene expression data for Peters Anomaly.

Pathways for genes affiliated with Peters Anomaly

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Pathways related to Peters Anomaly according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0FOXC1, PAX6
Show member pathways
Show member pathways
9.4TGFB2, RB1
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation59
Show member pathways
8.8SMAD2, TGFB2, RB1
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
8.8RB1, TGFB2, SMAD2
98.8RBL2, RB1, HDAC9
Show member pathways
8.8HDAC9, RB1, RBL2
118.7RBL2, RB1, TTF2
Show member pathways
8.5RBL2, RB1, TGFB2, HDAC9
138.3SMAD2, TGFB2, RB1, RBL2
Show member pathways
Cell cycle36
8.3SMAD2, TGFB2, RB1, RBL2

Compounds for genes affiliated with Peters Anomaly

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Compounds related to Peters Anomaly according to GeneCards Suite gene sharing:

(show all 40)
idCompoundScoreTop Affiliating Genes
1hyaluronic acid44 2410.7HDAC9, MYOC, TGFB2
2benzo(a)pyrene449.5CYP1B1, RB1, TGFB2
3aflatoxin b144 2410.5CYP1B1, RB1
4n acetylcysteine449.5TGFB2, SMAD2, CYP1B1, HDAC9
5glycosaminoglycan449.5EXT1, MYOC, TGFB2
6polypropylene glycol449.5RB1, RBL2
7hpvs449.4RBL2, RB1
8bromodeoxyuridine449.4RB1, TGFB2, PAX6
9formaldehyde44 2410.3CYP1B1, HDAC9, RB1
10tgf beta1449.2HDAC9, RBL2, TGFB2, SMAD2
11resveratrol44 60 24 1112.2TGFB2, HDAC9, CYP1B1, RB1
121,25 dihydroxy vitamin d3449.2TTF2, RB1, TGFB2
135fluorouracil449.2TGFB2, HDAC9, CYP1B1, RB1
14p003449.1TTF2, CYP1B1, RB1, TGFB2
15calcitriol44 60 24 1112.1HDAC9, RB1, TGFB2
16agar449.1HDAC9, TGFB2, RB1
17cyclic amp44 2410.0RB1, HDAC9, PITX2, TGFB2
18matrigel448.9SMAD2, HDAC9, RB1, TGFB2
19lysine448.9SMAD2, HDAC9, RB1, PITX2
20retinoic acid44 249.8CYP1B1, PAX6, HDAC9, TGFB2, RB1
21arginine448.8SMAD2, PAX6, EXT1, MYOC, PITX2
22progesterone44 28 60 24 1112.7TTF2, RB1, TGFB2, CYP1B1, HDAC9
23estradiol44 24 1110.7HDAC9, RB1, CYP1B1, SMAD2, TGFB2
24leucine448.7MYOC, RB1, TTF2, CYP1B1
25oxygen44 249.7CYP1B1, HDAC9, TTF2, PAX6, RB1
26testosterone44 60 24 1111.5TGFB2, CYP1B1, HDAC9, RB1
27h2o2448.5SMAD2, HDAC9, CYP1B1, RB1
28oligonucleotide448.5TGFB2, SMAD2, CYP1B1, PITX2, HDAC9, RB1
29nitric oxide44 24 1110.4TGFB2, SMAD2, TTF2, RB1, HDAC9
30estrogen448.4SHOX, TTF2, RB1, CYP1B1, HDAC9, TGFB2
31lipid448.4TTF2, MYOC, HDAC9, RB1, CYP1B1, PITX2
32vegf448.3RB1, TGFB2, PAX6, HDAC9, SMAD2, TTF2
33alanine448.1SMAD2, MYOC, PAX6, SOX3, TTF2, HDAC9
34glucose448.1PAX6, RB1, TGFB2, TTF2, SMAD2, PITX2
35threonine448.0RBL2, TTF2, PAX6, FOXC1, RB1, SMAD2
36steroid448.0SHOX, TGFB2, TTF2, MYOC, RB1, CYP1B1
37tyrosine447.9HDAC9, RBL2, RB1, TGFB2, SMAD2, PITX2
38cysteine447.9TTF2, PITX2, SMAD2, RB1, MYOC, TGFB2
39dexamethasone44 50 28 1110.9CYP1B1, RB1, MYOC, TGFB2, TTF2, SMAD2
40serine447.3RBL2, RB1, HDAC9, PITX2, CYP1B1, SMAD2

GO Terms for genes affiliated with Peters Anomaly

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Cellular components related to Peters Anomaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056678.0RBL2, HDAC9, PITX2, SMAD2, FOXE3, FOXC1
2nucleusGO:00056346.5PITX2, SMAD2, SHOX, SOX3, PAX6, FOXE3

Biological processes related to Peters Anomaly according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1iris morphogenesisGO:006107210.3PITX2, PAX6
2lacrimal gland developmentGO:003280810.3PAX6, FOXC1
3salivary gland morphogenesisGO:000743510.3PAX6, TGFB2
4neuron fate commitmentGO:004866310.2PAX6, TGFB2
5cardiac muscle cell proliferationGO:006003810.2TGFB2, FOXC1
6eye developmentGO:000165410.1TGFB2, PAX6, FOXC1
7pituitary gland developmentGO:002198310.0PAX6, SOX3
8camera-type eye developmentGO:004301010.0FOXC1, PITX2
9odontogenesisGO:004247610.0PITX2, TGFB2
10hair follicle morphogenesisGO:00310699.9FOXE3, TGFB2
11signal transduction involved in regulation of gene expressionGO:00230199.9PAX6, SMAD2
12heart developmentGO:00075079.9HDAC9, FOXC1, TGFB2
13positive regulation of epithelial to mesenchymal transitionGO:00107189.8TGFB2, SMAD2
14blood vessel remodelingGO:00019749.6TGFB2, FOXC1
15transcription from RNA polymerase II promoterGO:00063669.6FOXE3, SHOX, PAX6, FOXC1
16gastrulationGO:00073699.5SMAD2, EXT1
17skeletal system developmentGO:00015019.5SHOX, FOXC1, EXT1
18negative regulation of epithelial cell proliferationGO:00506809.5PAX6, RB1, TGFB2
19regulation of lipid kinase activityGO:00435509.5RB1, RBL2
20in utero embryonic developmentGO:00017019.4PITX2, SMAD2, FOXC1
21negative regulation of transcription from RNA polymerase II promoterGO:00001229.2HDAC9, PITX2, SMAD2, FOXE3, FOXC1
22positive regulation of transcription, DNA-templatedGO:00458938.9PAX6, FOXC1, RB1, SMAD2
23positive regulation of transcription from RNA polymerase II promoterGO:00459448.7PITX2, RB1, FOXC1, PAX6, SMAD2

Molecular functions related to Peters Anomaly according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1chromatin DNA bindingGO:003149010.0FOXC1, PITX2
2co-SMAD bindingGO:00704109.9SMAD2, PAX6
3transforming growth factor beta receptor bindingGO:00051609.8SMAD2, TGFB2
4R-SMAD bindingGO:00704129.8PAX6, SMAD2
5RNA polymerase II core promoter sequence-specific DNA bindingGO:00009799.8PAX6, SOX3
6transferase activity, transferring glycosyl groupsGO:00167579.7B3GALTL, EXT1
7RNA polymerase II activating transcription factor bindingGO:00011029.4RB1, PITX2
8double-stranded DNA bindingGO:00036909.4SMAD2, PAX6, FOXE3, FOXC1
9phosphoprotein bindingGO:00512199.1RB1, PITX2
10ubiquitin protein ligase bindingGO:00316259.0SMAD2, PAX6, RB1
11transcription factor bindingGO:00081348.1RB1, HDAC9, PITX2, SMAD2, PAX6, FOXE3
12sequence-specific DNA binding transcription factor activityGO:00037008.0PITX2, SMAD2, SHOX, PAX6, FOXE3, FOXC1
13DNA bindingGO:00036777.5SMAD2, TTF2, SOX3, PAX6, FOXC1, RB1
14protein bindingGO:00055156.3HDAC9, PITX2, SMAD2, SHOX, TTF2, TGFB2

Sources for Peters Anomaly

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet