ORPHA:228429

Congenital generalized lipodystrophy type 4

Synonyms: BSCL type 4 · Berardinelli-Seip syndrome type 4, BSCL type 4 · GCL4

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Congenital generalized lipodystrophy type 4	BSCL type 4 · Berardinelli-Seip syndrome type 4, BSCL type 4 · GCL4
fr	Lipodystrophie généralisée congénitale de type 4	LCG4 · Syndrome de Berardinelli-Seip type 4
de	Lipodystrophie, generalisierte kongenitale, Typ 4	BSCL Typ 4 · Berardinelli-Seip-Syndrom Typ 4 · GCL4
es	Lipodistrofia congénita generalizada tipo 4	BSCL tipo 4 · GCL4 · Síndrome de Berardinelli-Seip syndrome tipo 4
it	Lipodistrofia congenita generalizzata con miopatia	GCL4 · Lipodistrofia congenita generalizzata, tipo 4
nl	Congenitale gegeneraliseerde lipodystrofie type 4	BSCL type 4 · GCL4 · Syndroom van Berardinelli-Seip type 4
pt	Lipodistrofia generalizada congénita tipo 4	BSCL tipo 4 · GCL4 · Síndrome Berardinelli-Seip tipo 4
pl	Wrodzona lipodystrofia uogólniona z miopatią	GCL4 · Wrodzona lipodystrofia uogólniona typu 4
cs	Vrozená generalizovaná lipodystrofie s myopatiií	GCL4 · Generalizovaná vrozená lipodystrofie, typ 4
uk	Генералізована вроджена ліподистрофія з міопатією	GCL4 · Генералізована вроджена ліподистрофія типу 4
zh	先天性全身性脂肪营养不良伴肌病	先天性全身性脂肪营养不良4型
tr	Miyopati ile seyreden jeneralize doğumsal lipodistrofi	GCL4 · Jeneralize doğumsal lipodistrofi tip 4

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	613327	E		validated
ICD-10	E88.1	NTBT	attributed	validated
MONDO	13225	E		validated
UMLS	C2750069	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:528Congenital generalized lipodystrophy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare skin diseases; rare endocrine diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CAVIN1	Disease-causing germline mutation(s) in	Assessed	HGNC:9688	ENSG00000177469	603198	17q21.2	caveolae associated protein 1	20684003[PMID]_27894728[PMID]

0 records

No prevalence record in this release.

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