ORPHA:98985

Early-onset sutural cataract

Synonyms: Early-onset cataract with Y-shaped suture opacities

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Early-onset sutural cataract	Early-onset cataract with Y-shaped suture opacities
fr	Cataracte suturale précoce	Cataracte de la suture en Y précoce
de	Katarakt, suturale, früh-beginnende	Früh-beginnende Katarakt mit Y-nahtförmigen Trübungen
es	Catarata sutural de inicio precoz	Catarata de inicio precoz con opacidades de las suturas en forma de Y
it	Cataratta suturale a esordio precoce	Cataratta a esordio precoce con opacità lungo le suture a Y
nl	Suturaal cataract met vroege aanvang	Vroeg aanvangend cataract met Y-vormige sutuuropaciteiten
pt	Catarata das suturas de início precoce	Catarata das suturas com opacidades em forma de Y
pl	Zaćma szwowa o wczesnym początku	Zaćma o wczesnym początku ze zmętnieniami w kształcie litery Y
cs	Suturální katarakta s časným nástupem	Katarakta s opacifikacemi v Y-švu s časným nástupem
uk	Рання шовна катаракта	Рання катаракта з Y-подібними помутніннями швів
zh	早发性缝性白内障	Y形缝隙状混浊性早发性白内障。
tr	Erken başlangıçlı sütür katarakt	Y şeklindeki sütür opasiteleri ile seyreden erken başlangıçlı katarakt

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	116100	NTBT		validated
OMIM	600881	NTBT		validated
OMIM	605728	BTNT		validated
ICD-10	Q12.0	NTBT	attributed	validated
ICD-11	LA12.1	NTBT	index	validated
MONDO	0020372	E		validated
MeSH	C565301	E		validated
UMLS	C1854021	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:98995Early-onset zonular cataract
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders

No children.

6 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
BFSP2	Disease-causing germline mutation(s) in	Assessed	HGNC:1041	ENSG00000170819	603212	3q22.1	beaded filament structural protein 2	17200662[PMID]
CRYBA1	Disease-causing germline mutation(s) in	Assessed	HGNC:2394	ENSG00000108255	123610	17q11.2	crystallin beta A1	9788845[PMID]
CRYBB2	Disease-causing germline mutation(s) in	Assessed	HGNC:2398	ENSG00000244752	123620	22q11.23	crystallin beta B2	11424921[PMID]
CRYGS	Disease-causing germline mutation(s) in	Assessed	HGNC:2417	ENSG00000213139	123730	3q27.3	crystallin gamma S	18587492[PMID]_16141006[PMID]
GJA8	Disease-causing germline mutation(s) in	Assessed	HGNC:4281	ENSG00000121634	600897	1q21.2	gap junction protein alpha 8	18587493[PMID]
MIP	Disease-causing germline mutation(s) in	Assessed	HGNC:7103	ENSG00000135517	154050	12q13.3	major intrinsic protein of lens fiber	20361015[PMID]_24405844[PMID]

0 records

No prevalence record in this release.

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