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Monomelic amyotrophy

1 OMIM reference -
2 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Griscelli disease type 2

1 OMIM reference -
1 associated gene
21 signs/symptoms

Monomelic amyotrophy

Griscelli disease type 2

C5ORF42	(UniProt - OMIM)		RAB27A	(UniProt - OMIM)
KIAA1377	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIAA1377	(0.63)	RAB27A

Citations in the biomedical literature:

Monomelic amyotrophy		Griscelli disease type 2
	Synonym(s): - Benign focal amyotrophy - Hirayama disease - JMADUE - Juvenile muscular atrophy of distal upper extremity - Juvenile muscular atrophy of the distal upper limb		Synonym(s): - Griscelli-PruniÃ©ras syndrome type 2 - Hypopigmentation - immunodeficiency with or without neurologic impairment

	Classification (Orphanet): (no data available)		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare immune disease - Rare skin disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: unknown		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538253		External references: 1 OMIM reference - 1 MeSH reference: C537302


COMMON SIGNS	- Autosomal recessive inheritance

Monomelic amyotrophy		Griscelli disease type 2
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Upper limb asymmetry / hemiatrophy / hemihypertrophy - Upper limb segmental anomalies Frequent - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of spine, vertebrae and pelvis - Nerve conduction abnormality Occasional - Anomalies of the immunitary system - Movement disorder - Myoclonus / fasciculations - Tremor		Very frequent - Decreased hair pigmentation / hypopigmentation of hair - Immunodeficiency / increased susceptibility to infections / recurrent infections - Irregular / patchy skin hypopigmentation - Premature greying of hair Frequent - Hepatitis / icterus / cholestasis - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Lymphadenopathy / polyadenopathies - Polynuclear cells / neutrophils anomalies / neutropenia Occasional - Bone marrow failure / pancytopenia - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Fever / chilling - Hypertonia / spasticity / rigidity / stiffness - Iris albinism / ocular albinism - Lung / pulmonary infiltrates - Meningitis / meningeal syndrome - Nausea / vomiting / regurgitation / merycism / hyperemesis - Purpura / petichiae - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly