ORPHA:79478

Griscelli syndrome type 3

Synonyms: Griscelli-Pruniéras syndrome type 3

This disease is described under Griscelli syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Griscelli syndrome type 3	Griscelli-Pruniéras syndrome type 3
fr	Syndrome de Griscelli type 3	Syndrome de Griscelli-Pruniéras type 3
de	Griscelli-Syndrom Typ 3	Griscelli-Pruniéras-Syndrom Typ 3
es	Síndrome de Griscelli tipo 3	Síndrome de Griscelli-Pruniéras tipo 3
it	Malattia di Griscelli, tipo 3	Sindrome di Griscelli-Pruniéras, tipo 3
nl	Syndroom van Griscelli type 3	Syndroom van Griscelli-Pruniéras type 3
pt	Síndrome de Griscelli tipo 3
pl	Choroba Griscelliego typu 3	Zespół Griscelliego i Pruniérasa typu 3
cs	Griscelliho nemoc, typ 3	Griscelliho-Pruniérasův syndrom, typ 3 · Griscelli-Pruniérasův syndrom, typ 3
uk	Синдром Гріселлі, тип 3	Синдром Гріселлі-Пруньєраса, тип 3
zh	格里塞利综合征3型	Griscelli-Pruniéras综合征3型
tr	Griscelli sendromu tip 3	Griscelli-Pruniéras sendromu tip 3

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	609227	E		validated
ICD-10	E70.3	NTBT	attributed	validated
ICD-11	EC23.2Y	NTBT	index	validated
MONDO	0012220	E		validated
MeSH	C537303	E		validated
UMLS	C1836573	E		validated
GARD	9715	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:381Griscelli syndrome
rare genetic diseases; rare neurological diseases; rare skin diseases; rare ophthalmic disorders

No children.

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MLPH	Disease-causing germline mutation(s) in	Assessed	HGNC:29643	ENSG00000115648	606526	2q37.3	melanophilin
MYO5A	Disease-causing germline mutation(s) in	Assessed	HGNC:7602	ENSG00000197535	160777	15q21.2	myosin VA	12897212[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_26337734[PMID]
Cases/families		13 cases	Worldwide	Case(s)	Validated	26337734[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

3 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0005599	Hypopigmentation of hair
Occasional (29-5%)
HP:0007730	Iris hypopigmentation
HP:0007443	Partial albinism

Annotation source: 26337734[PMID]