ODCs

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1 OMIM reference -
2 associated genes
3 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
12 signs/symptoms

Griscelli disease type 3

Griscelli disease type 1

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MLPH	(0.96)	MYO5A

Citations in the biomedical literature:

Griscelli disease type 3		Griscelli disease type 1
	Synonym(s): - Griscelli-PruniÃ©ras syndrome type 3		Synonym(s): - Griscelli-PruniÃ©ras syndrome type 1 - Hypopigmentation - neurologic impairment

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C537303		External references: 1 OMIM reference - 1 MeSH reference: C537301


COMMON SIGNS	- Diffuse / generalised skin hypopigmentation / cutaneous albinism - Iris albinism / ocular albinism

Griscelli disease type 3		Griscelli disease type 1
	Very frequent - Decreased hair pigmentation / hypopigmentation of hair		Very frequent - Albinism (hair) - Ataxia / incoordination / trouble of the equilibrium - Hypertonia / spasticity / rigidity / stiffness - Movement disorder - Nystagmus - Premature greying of hair - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Intellectual deficit / mental / psychomotor retardation / learning disability Occasional - Intracranial / cerebral calcifications