ORPHA:662172

Phelan-McDermid syndrome due to SHANK3 mutation

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Phelan-McDermid syndrome due to SHANK3 mutation
fr	Syndrome de Phelan-McDermid lié à une mutation de SHANK3
de	Phelan-McDermid-Syndrom durch SHANK3-Mutation
es	Síndrome de Phelan-McDermid por una mutación en el gen SHANK3
it	Sindrome di Phelan-McDermid da mutazione di SHANK3
nl	Syndroom van Phelan-McDermid door SHANK3-mutatie
pt	Síndrome Phelan-McDermid por mutação em SHANK3
pl	Zespół Phelan-McDermid wskutek mutacji SHANK3
cs	Phelan-McDermidové syndrom způsobený mutací SHANK3	Phelanové-McDermidové syndrom způsobený mutací SHANK3
uk	Синдром Фелана-Макдерміда, зумовлений мутацією SHANK3

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	606232	NTBT		validated
ICD-10	Q93.5	NTBT	attributed	validated
ICD-11	LD44.NY	NTBT	attributed	validated
MONDO	0971069	E		validated
UMLS	C5925128	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:48652Phelan-McDermid syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare skin diseases; rare circulatory system diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SHANK3	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:14294	ENSG00000251322	606230	22q13.33	SH3 and multiple ankyrin repeat domains 3	30537371[PMID]_20385823[PMID]

0 records

No prevalence record in this release.

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