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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Corneal Opacity (D003318)
Parent Node: Eye Abnormalities (D005124)
..Starting node ..Peters anomaly (C537884)
Child Nodes:
Sister Nodes:
..Ablepharon macrostomia syndrome (C535557)
..Aniridia (D015783) 10
..Ankyloblepharon filiforme adnatum cleft palate (C536373)
..Anophthalmos (D000853) 8
..Anterior segment mesenchymal dysgenesis (C537775)
..Asymmetric Short Stature Syndrome (C566248)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..Axenfeld-Rieger syndrome (C535679) 3
..Blepharophimosis (D016569) 17
..Blue diaper syndrome (C536239)
..Brachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..Chemke Oliver Mallek syndrome (C535922)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..CODAS syndrome (C536434)
..Cole Carpenter syndrome (C535963)
..Coloboma (D003103) 43
..Craniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
..Cryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
..Dwarfism stiff joint ocular abnormalities (C535724)
..Ectopia Lentis (D004479) 13
..FACES syndrome (C536384)
..Foveal Hypoplasia and Anterior Segment Dysgenesis (C563774)
..Fraser Syndrome (D058497)
..Fronto-facio-nasal dysplasia (C538063)
..Frontoocular Syndrome (C565340)
..Goniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
..Hay-Wells syndrome (C535847)
..Hydrophthalmos (D006871)
..Iridogoniodysgenesis and skeletal anomalies (C535534)
..Iridogoniodysgenesis type1 (C535535)
..Iridogoniodysgenesis, dominant type (C535536)
..Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..Joubert syndrome 1 (C536293)
..Joubert syndrome 2 (C536294)
..Joubert Syndrome 9 (C567364)
..Kapur Toriello syndrome (C537008)
..Kaufman oculocerebrofacial syndrome (C537013)
..Macrophthalmia, Colobomatous, with Microcornea (C566533)
..Maxillofacial Dysostosis (C563599)
..Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..Microcornea, glaucoma, and absent frontal sinuses (C537552)
..Microphthalmos (D008850) 57
..MOMES Syndrome (C564660)
..Nephrotic syndrome ocular anomalies (C536403)
..Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
..Oculoauricular Syndrome (C567416)
..Oculoauriculofrontonasal syndrome (C537865)
..Oculocerebrocutaneous syndrome (C538088)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculomaxillofacial dysostosis (C537736)
..Oculopalatocerebral Syndrome (C564935)
..Oculopalatoskeletal syndrome (C537738)
..Oculorenocerebellar syndrome (C537739)
..Pena Shokeir syndrome Type 2 (C536646)
..Persistent Hyperplastic Primary Vitreous (D054514)
..Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..Peters anomaly (C537884)
..PHACE association (C537892)
..Pierson syndrome (C537185)
..Popliteal Pterygium Syndrome (C562509)
..Popliteal Pterygium Syndrome, Lethal Type (C564874)
..Prepapillary Vascular Loops (C563287)
..Pupil, Egg-Shaped (C566731)
..Pupillary Membrane, Persistence Of (C562700)
..Retinal Dysplasia (D015792) 2
..Rieger syndrome 2 (C535680)
..Rozin Hertz Goodman syndrome (C535876)
..Torsion dystonia with onset in infancy (C536969)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8868

Name:

Peters anomaly

Definition:

Alternative IDs:

OMIM:604229

ParentIDs:

MESH:D003318|MESH:D005124

TreeNumbers:

C11.204.299/C537884 |C11.250/C537884 |C16.131.384/C537884

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease

Reference:

MedGen: C537884
MeSH: C537884
OMIM: 604229;

Genes: CYP1B1; PAX6; PITX2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007957	Corneal opacity	HP:0040281
3	HP:0001087	Developmental glaucoma	HP:0040282
4	HP:0000639	Nystagmus	HP:0040284
5	HP:0000659	Peters anomaly
6	HP:0000486	Strabismus	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000104.3(CYP1B1):c.1200_1209dupTCATGCCACC (p.Thr404Serfs)	1545	CYP1B1	Pathogenic	587778873	RCV000059336;	N	MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003	2	38298288	38298297	NM_000104.3:c.1200_1209dupTCATGCCACC	NP_000095.2:p.Thr404Serfs	NC_000002.11:g.38298288_38298297dupGGTGGCATGA	-	C0344559 604229 Irido-corneo-trabecular dysgenesis
NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter)	1545	CYP1B1	Pathogenic	72549387	RCV000008176; RCV000169657;	N	MedGen:C0020302,OMIM:231300; MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003	2	38302361	38302361	NM_000104.3:c.171G>A	NP_000095.2:p.Trp57Ter	NC_000002.11:g.38302361C>T	OMIM Allelic Variant:601771.0010	C0020302 231300 Glaucoma, congenital; C0344559 604229 Irido-corneo-trabecular dysgenesis
NM_000104.3(CYP1B1):c.2T>C (p.Met1Thr)	1545	CYP1B1	Pathogenic	72549389	RCV000008175;	N	MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003	2	38302530	38302530	NM_000104.3:c.2T>C	NP_000095.2:p.Met1Thr	NC_000002.11:g.38302530A>G	OMIM Allelic Variant:601771.0009	C0344559 604229 Irido-corneo-trabecular dysgenesis
NM_001453.2(FOXC1):c.335T>C (p.Phe112Ser)	2296	FOXC1	Pathogenic	104893951	RCV000008972; RCV000008970; RCV000008971;	N	MedGen:C0266548,ORPHA:98978; MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003; MedGen:C2678503,OMIM:602482	6	1611015	1611015	NM_001453.2:c.335T>C	NP_001444.2:p.Phe112Ser	NC_000006.11:g.1611015T>C	OMIM Allelic Variant:601090.0004	C0266548 Axenfeld anomaly; C2678503 602482 Axenfeld-Rieger syndrome type 3; C0344559 604229 Irido-corneo-trabecular dysgenesis
NM_001453.2(FOXC1):c.358C>T (p.Gln120Ter)	2296	FOXC1	Pathogenic	121909339	RCV000008982; RCV000008981;	N	MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003; MedGen:C2678503,OMIM:602482	6	1611038	1611038	NM_001453.2:c.358C>T	NP_001444.2:p.Gln120Ter	NC_000006.11:g.1611038C>T	OMIM Allelic Variant:601090.0011	C2678503 602482 Axenfeld-Rieger syndrome type 3; C0344559 604229 Irido-corneo-trabecular dysgenesis
NM_000280.4(PAX6):c.152G>T (p.Gly51Val)	5080	PAX6	Pathogenic	587778874	RCV000059340;	N	MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003	11	31823314	31823314	NM_000280.4:c.152G>T	NP_000271.1:p.Gly51Val	NC_000011.9:g.31823314C>A	-	C0344559 604229 Irido-corneo-trabecular dysgenesis
NM_001604.5(PAX6):c.161T>A (p.Val54Asp)	5080	PAX6	Pathogenic	121907921	RCV000003638; RCV000128793;	N	MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003; MedGen:C4017657	11	31823441	31823441	NM_001604.5:c.161T>A	NP_001595.2:p.Val54Asp	NC_000011.9:g.31823441A>T	OMIM Allelic Variant:607108.0015	C4017657 Foveal hypoplasia 1 with or without anterior segment anomalies; C0344559 604229 Irido-corneo-trabecular dysgenesis
NM_000280.4(PAX6):c.76C>G (p.Arg26Gly)	5080	PAX6	Pathogenic	121907913	RCV000003628; RCV000003627;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003; MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003	11	31824317	31824317	NM_000280.4:c.76C>G	NP_000271.1:p.Arg26Gly	NC_000011.9:g.31824317G>C	OMIM Allelic Variant:607108.0004	C0003076 106210 Congenital aniridia; C0344559 604229 Irido-corneo-trabecular dysgenesis