ORPHA:98988

Early-onset anterior polar cataract

Synonyms: Early-onset anterior subcapsular cataract

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Early-onset anterior polar cataract	Early-onset anterior subcapsular cataract
fr	Cataracte polaire antérieure précoce	Cataracte sous capsulaire antérieure précoce
de	Katarakt, anteriore polare, früh-beginnende	Katarakt, anteriore subkapsuläre
es	Catarata polar anterior de inicio precoz	Catarata subcapsular anterior de inicio precoz
it	Cataratta polare anteriore a esordio precoce	Cataratta subcapsulare anteriore a esordio precoce
nl	Anterieur polair cataract met vroege aanvang	Anterieur subcapsulair cataract met vroege aanvang
pt	Catarata polar anterior de início precoce	Catarata subcapsular anterior de início precoce
pl	Zaćma biegunowa przednia o wczesnym początku	Zaćma podtorebkowa przednia o wczesnym początku
cs	Přední polární katarakta s časným nástupem	Přední subkapsulární katarakta s časným nástupem
uk	Рання передня полярна катаракта	Рання передня субкапсулярна катаракта
zh	早发性前极性白内障	早发性前囊下白内障
tr	Erken başlangıçlı anterior polar katarakt	Erken başlangıçlı anterior subkapsüler katarakt

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	601202	BTNT		validated
ICD-10	Q12.0	NTBT	attributed	validated
ICD-11	LA12.1	NTBT	index	validated
MONDO	0020373	E		validated
MeSH	C538282	E		validated
UMLS	C1855179	E		validated
GARD	1140	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:98992Early-onset partial cataract
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders

No children.

4 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CRYAA	Disease-causing germline mutation(s) in	Assessed	HGNC:2388	ENSG00000160202	123580	21q22.3	crystallin alpha A	22065922[PMID]
CRYBA2	Disease-causing germline mutation(s) in	Assessed	HGNC:2395	ENSG00000163499	600836	2q35	crystallin beta A2	23508780[PMID]
CRYBB3	Disease-causing germline mutation(s) in	Assessed	HGNC:2400	ENSG00000100053	123630	22q11.23	crystallin beta B3	23508780[PMID]
CRYGB	Disease-causing germline mutation(s) in	Assessed	HGNC:2409	ENSG00000182187	123670	2q33.3	crystallin gamma B	23288985[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.