ORPHA:91492

Early onset non-syndromic cataract

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Age of onset: Infancy, Neonatal
Status: active

A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Early onset non-syndromic cataract
fr	Cataracte précoce non syndromique
de	Katarakt, nicht-syndromale, kongenitale
es	Catarata no sindrómica de inicio precoz
it	Cataratta non sindromica a esordio precoce
nl	Niet-syndromaal cataract met vroege aanvang
pt	Catarata não-sindromática de início precoce	Catarata congénita não-sindromática
pl	Niesyndromiczna zaćma o wczesnym początku
cs	Časná nesyndromová katarakta
uk	Рання несиндромальна катаракта
zh	早发性非综合征性白内障
tr	Erken başlangıçlı sendromik olmayan katarakt

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	115650	BTNT		validated
OMIM	115660	BTNT		validated
OMIM	115665	BTNT		validated
OMIM	115700	BTNT		validated
OMIM	115800	BTNT		validated
OMIM	115900	BTNT		validated
OMIM	116100	BTNT		validated
OMIM	116200	BTNT		validated
OMIM	116300	BTNT		validated
OMIM	116400	BTNT		validated
OMIM	116600	BTNT		validated
OMIM	116700	BTNT		validated
OMIM	116800	BTNT		validated
OMIM	212500	BTNT		validated
OMIM	302200	BTNT		validated
OMIM	600881	BTNT		validated
OMIM	601202	BTNT		validated
OMIM	601547	BTNT		validated
OMIM	601885	BTNT		validated
OMIM	604219	BTNT		validated
OMIM	604307	BTNT		validated
OMIM	605387	BTNT		validated
OMIM	605728	BTNT		validated
OMIM	605749	BTNT		validated
OMIM	607304	BTNT		validated
OMIM	609376	BTNT		validated
OMIM	609741	BTNT		validated
OMIM	610019	BTNT		validated
OMIM	610202	BTNT		validated
OMIM	610425	BTNT		validated
OMIM	610623	BTNT		validated
OMIM	611391	BTNT		validated
OMIM	611544	BTNT		validated
OMIM	611597	NTBT		validated
OMIM	613763	BTNT		validated
OMIM	614422	BTNT		validated
OMIM	614691	BTNT		validated
OMIM	615188	BTNT		validated
OMIM	615274	BTNT		validated
OMIM	615277	BTNT		validated
OMIM	616279	BTNT		validated
OMIM	616509	BTNT		validated
OMIM	616851	BTNT		validated
ICD-10	Q12.0	E	specific	validated
ICD-11	LA12.1	E	specific	validated
MONDO	0011060	E		validated
UMLS	C5925050	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:97966Rare ophthalmic disorder

Parents in the classifications (4):

ORPHA:98553Developmental defect of the eye
rare developmental anomalies during embryogenesis
ORPHA:183557Genetic developmental defect of the eye
rare genetic diseases
ORPHA:98640Rare disorder with lens opacification
rare ophthalmic disorders
ORPHA:522546Rare genetic disorder with lens opacification
rare genetic diseases

Children (2):

Codes that Orphanet moved or referred to this one:

ORPHA:98983OBSOLETE: Congenital cataract, Volkmann type referred to · inactive
ORPHA:98987OBSOLETE: Cataract, Hutterite type referred to · inactive
ORPHA:217049OBSOLETE: Rare non-syndromic cataract referred to · inactive
ORPHA:217052OBSOLETE: Infantile non-syndromic cataract referred to · inactive

Genes

0 direct · 17 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
NHS	ORPHA:98994Total early-onset cataract	Candidate gene tested in	Not yet assessed	HGNC:7820	ENSG00000188158	300457	Xp22.2-p22.13	NHS actin remodeling regulator
DNMBP	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:30373	ENSG00000107554	611282	10q24.2	dynamin binding protein	30290152[PMID]
AGK	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:21869	ENSG00000006530	610345	7q34	acylglycerol kinase	22415731[PMID]_26622071[PMID]
CRYAA	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:2388	ENSG00000160202	123580	21q22.3	crystallin alpha A	16862070[PMID]
CRYBB2	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:2398	ENSG00000244752	123620	22q11.23	crystallin beta B2	21031021[PMID]
CRYGB	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:2409	ENSG00000182187	123670	2q33.3	crystallin gamma B	23288985[PMID]
EPHA2	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:3386	ENSG00000142627	176946	1p36.13	EPH receptor A2	19306328[PMID]
FYCO1	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:14673	ENSG00000163820	607182	3p21.31	FYVE and coiled-coil domain autophagy adaptor 1	26622071[PMID]
GCNT2	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:4204	ENSG00000111846	600429	6p24.3-p24.2	glucosaminyl (N-acetyl) transferase 2 (I blood group)	21761136[PMID]_26622071[PMID]
GJA8	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:4281	ENSG00000121634	600897	1q21.2	gap junction protein alpha 8	17601931[PMID]
HSF4	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:5227	ENSG00000102878	602438	16q22.1	heat shock transcription factor 4	15277496[PMID]_16876512[PMID]
LEMD2	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:21244	ENSG00000161904	616312	6p21.31	LEM domain nuclear envelope protein 2	26788539[PMID]
LIM2	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:6610	ENSG00000105370	154045	19q13.41	lens intrinsic membrane protein 2	18596884[PMID]
LSS	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:6708	ENSG00000160285	600909	21q22.3	lanosterol synthase	262003412[PMID]
MIP	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:7103	ENSG00000135517	154050	12q13.3	major intrinsic protein of lens fiber	17893667[PMID]
PGRMC1	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:16090	ENSG00000101856	300435	Xq24	progesterone receptor membrane component 1	33867527[PMID]
SIPA1L3	ORPHA:98994Total early-onset cataract	Disease-causing germline mutation(s) in	Assessed	HGNC:23801	ENSG00000105738	616655	19q13.13-q13.2	signal induced proliferation associated 1 like 3	25804400[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/91492
This record as JSON: /data/d/91492.json