ODCs

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1 OMIM reference -
2 associated genes
3 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Griscelli disease type 3

Severe early-onset axonal neuropathy due to NEFL deficiency

MLPH	(UniProt - OMIM)		NEFL	(UniProt - OMIM)
MYO5A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MYO5A	(0.62)	NEFL

Citations in the biomedical literature:

Griscelli disease type 3		Severe early-onset axonal neuropathy due to NEFL deficiency
	Synonym(s): - Griscelli-PruniÃ©ras syndrome type 3		Synonym(s): - Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency

	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: - 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 early-onset axonal neuropathy due to NEFL deficiency
(no data available)