ORPHA:381

Griscelli syndrome

Synonyms: Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome · Partial albinism-immunodeficiency syndrome

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Childhood, Infancy
Status: active

Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Griscelli syndrome	Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome · Partial albinism-immunodeficiency syndrome
fr	Syndrome de Griscelli	Syndrome d'albinisme partiel-déficit immunitaire · Syndrome de Chédiak-Higashi-like · Syndrome de Griscelli-Pruniéras · Syndrome des cheveux argentés de Griscelli-Pruniéras
de	Griscelli-Syndrom	Chediak-Higashi-ähnliches-Syndrom · Griscelli-Pruniéras-Syndrom · Partieller Albinismus-Immundefekt-Syndrom
es	Síndrome de Griscelli	Síndrome de Griscelli-Pruniéras · Síndrome de albinismo parcial-inmunodeficiencia · Síndrome similar a Chédiak-Higashi
it	Sindrome di Griscelli	Albinismo parziale - immunodeficienza · Sindrome Chediak-Higashi-simile · Sindrome di Griscelli-Pruniéras
nl	Syndroom van Griscelli	Chédiak-Higashi-achtig syndroom · Partieel albinisme - immuundeficiëntie-syndroom · Syndroom van Griscelli-Pruniéras
pt	Síndrome Griscelli	Albinismo parcial-imunodeficiência · Síndrome Chediak-Higashi-like
pl	Choroba Griscelli	Częściowy albinizm - Niedobór odporności · Zespół Griscelli i Pruniérasa · Zespół podobny do zespołu Chediak i Higashi
cs	Griscelliho nemoc	Syndrom podobný Chédiakovu-Higashiho · Griscelliho-Pruniérasův syndrom · Syndrom zahrnující parciální albinismus a imunodeficienci · GD · Syndrom podobný Chédiak-Higashiho · Griscelli-Pruniérasův syndrom
uk	Синдром Грічеллі	Синдром, подібний до синдрому Чедіака-Хігаші · Синдром Грічеллі-Пруньєраса · Синдром часткового альбінізму-імунодефіциту
zh	Griscelli综合征	部分白化病-免疫缺陷综合征
tr	Griscelli sendromu	Griscelli-Pruniéras sendromu · Chédiak-Higashi benzeri sendrom · Kısmi albinizm-immün yetmezlik sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	214450	BTNT		validated
OMIM	607624	BTNT		validated
OMIM	609227	BTNT		validated
ICD-10	E70.3	NTBT	attributed	validated
ICD-11	EC23.2Y	NTBT	index	validated
MONDO	0018306	E		validated
UMLS	C0398794	E		validated
GARD	10913	E		validated
MedDRA	10081517	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:89826Rare skin disease

Parents in the classifications (2):

ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
ORPHA:284811Syndromic oculocutaneous albinism
rare genetic diseases; rare skin diseases; rare ophthalmic disorders

Children (3):

Genes

0 direct · 4 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
MLPH	ORPHA:79478Griscelli syndrome type 3	Disease-causing germline mutation(s) in	Assessed	HGNC:29643	ENSG00000115648	606526	2q37.3	melanophilin
MYO5A	ORPHA:79476Griscelli syndrome type 1	Disease-causing germline mutation(s) in	Assessed	HGNC:7602	ENSG00000197535	160777	15q21.2	myosin VA
MYO5A	ORPHA:79478Griscelli syndrome type 3	Disease-causing germline mutation(s) in	Assessed	HGNC:7602	ENSG00000197535	160777	15q21.2	myosin VA	12897212[PMID]
RAB27A	ORPHA:79477Griscelli syndrome type 2	Disease-causing germline mutation(s) in	Assessed	HGNC:9766	ENSG00000069974	603868	15q21.3	RAB27A, member RAS oncogene family

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		150 cases	Worldwide	Case(s)	Validated	30207398[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_30207398[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.

HPO phenotypes

36 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001053	Hypopigmented skin patches
HP:0002216	Premature graying of hair
HP:0002218	Silver-gray hair
HP:0011364	White hair
Frequent (79-30%)
HP:0003119	Abnormal circulating lipid concentration
HP:0001874	Abnormality of neutrophils
HP:0004313	Decreased circulating antibody level
HP:0002721	Immunodeficiency
HP:0001882	Leukopenia
HP:0002716	Lymphadenopathy
HP:0001315	Reduced tendon reflexes
HP:0001873	Thrombocytopenia
Occasional (29-5%)
HP:0000534	Abnormal eyebrow morphology
HP:0000499	Abnormal eyelash morphology
HP:0100022	Abnormality of movement
HP:0001541	Ascites
HP:0001251	Ataxia
HP:0005528	Bone marrow hypocellularity
HP:0006824	Cranial nerve paralysis
HP:0002084	Encephalocele
HP:0001945	Fever
HP:0001263	Global developmental delay
HP:0012115	Hepatitis
HP:0002240	Hepatomegaly
HP:0000238	Hydrocephalus
HP:0001252	Hypotonia
HP:0001249	Intellectual disability
HP:0007730	Iris hypopigmentation
HP:0000952	Jaundice
HP:0000639	Nystagmus
HP:0010741	Pedal edema
HP:0002021	Pyloric stenosis
HP:0001250	Seizure
HP:0004322	Short stature
HP:0001257	Spasticity
HP:0001744	Splenomegaly

Run the differential on the 4 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/381
This record as JSON: /data/d/381.json