ORPHA:708

Peters anomaly

Synonyms: Peters congenital glaucoma

Type: Morphological anomaly
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive
Age of onset: Infancy, Neonatal
Status: active

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Peters anomaly	Peters congenital glaucoma
fr	Anomalie de Peters	Glaucome congénital de Peters
de	Peters-Anomalie	Glaukom, kongenitales, Typ Peters
es	Anomalía de Peters
it	Anomalia di Peters	Glaucoma congenito di Peters
nl	Peters-anomalie	Congenitaal glaucoom van Peters
pt	Anomalia de Peters	Glaucoma congénito de Peters
pl	Anomalia Petersa	Wrodzona jaskra Petersa
cs	Petersova anomálie	Petersův vrozený zelený zákal
uk	Аномалія Пітерса	Вроджена глаукома Петерса
zh	Peters畸形	Peters先天性青光眼
tr	Peters anomalisi	Peters doğumsal glokom

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	604229	E		validated
OMIM	612968	BTNT		validated
ICD-10	Q13.4	NTBT	inclusion	validated
ICD-11	9C61.42	NTBT	index	validated
MONDO	0011414	E		validated
MeSH	C537884	E		validated
UMLS	C0344559	E		validated
GARD	7377	E		validated
MedDRA	10059202	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:98634Anterior segment developmental anomaly without extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:101033OBSOLETE: Peters anomaly-cataract syndrome referred to · inactive

Genes

5 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PITX2	Candidate gene tested in	Not yet assessed	HGNC:9005	ENSG00000164093	601542	4q25	paired like homeodomain 2	10051017[PMID]
CYP1B1	Disease-causing germline mutation(s) in	Assessed	HGNC:2597	ENSG00000138061	601771	2p22.2	cytochrome P450 family 1 subfamily B member 1	11403040[PMID]_15621878[PMID]_16735991[PMID]
FOXC1	Disease-causing germline mutation(s) in	Assessed	HGNC:3800	ENSG00000054598	601090	6p25.3	forkhead box C1	9620769[PMID]_11170889[PMID]_12614756[PMID]_18498376[PMID]
FOXE3	Disease-causing germline mutation(s) in	Assessed	HGNC:3808	ENSG00000186790	601094	1p33	forkhead box E3	27218149[PMID]
PAX6	Disease-causing germline mutation(s) in	Assessed	HGNC:8620	ENSG00000007372	607108	11p13	paired box 6	8162071[PMID]_10441571[PMID]_15090434[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		60 cases	Worldwide	Case(s)	Validated	21448066[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

9 annotations · validated 2017-11-27

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0000659	Peters anomaly	Diagnostic criterion
Very frequent (99-80%)
HP:0011483	Anterior synechiae of the anterior chamber
HP:0011493	Central opacification of the cornea
HP:0007759	Opacification of the corneal stroma
HP:0000523	Subcapsular cataract
HP:0031159	Thinning of Descemet membrane
Frequent (79-30%)
HP:0001087	Developmental glaucoma
Very rare (<4-1%)
HP:0000639	Nystagmus
HP:0000486	Strabismus

Run the differential on the 6 obligate / very frequent terms

Annotation source: 380351[PMID]_21448066[PMID]_474688[PMID]_14711722[PMID]_12566051[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/708
This record as JSON: /data/d/708.json