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Griscelli disease type 3

1 OMIM reference -
2 associated genes
3 signs/symptoms

PROTEIN INTERACTIONS: 1

Severe congenital nemaline myopathy

4 associated genes
No signs/symptoms info

Griscelli disease type 3

Severe congenital nemaline myopathy

MLPH	(UniProt - OMIM)		ACTA1	(UniProt - OMIM)
MYO5A	(UniProt - OMIM)		KLHL40	(UniProt - OMIM)
			KLHL41	(UniProt - OMIM)
			NEB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MLPH	(0.72)	ACTA1

Citations in the biomedical literature:

Griscelli disease type 3		Severe congenital nemaline myopathy
	Synonym(s): - Griscelli-PruniÃ©ras syndrome type 3		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537303		External references: No OMIM references No MeSH references

Griscelli disease type 3
	Very frequent - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hypopigmentation / cutaneous albinism Occasional - Iris albinism / ocular albinism
Severe congenital nemaline myopathy
(no data available)