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Hyperlipoproteinemia type 5

1 OMIM reference -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Monomelic amyotrophy

1 OMIM reference -
2 associated genes
13 signs/symptoms

Hyperlipoproteinemia type 5

Monomelic amyotrophy

APOA5	(UniProt - OMIM)		C5ORF42	(UniProt - OMIM)
CREB3L3	(UniProt - OMIM)		KIAA1377	(UniProt - OMIM)
GPIHBP1	(UniProt - OMIM)
LPL	(UniProt - OMIM)


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

Citations in the biomedical literature:

Hyperlipoproteinemia type 5		Monomelic amyotrophy
	Synonym(s): - Major hyperlipidemia		Synonym(s): - Benign focal amyotrophy - Hirayama disease - JMADUE - Juvenile muscular atrophy of distal upper extremity - Juvenile muscular atrophy of the distal upper limb

	Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): (no data available)

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: unknown

	External references: 1 OMIM reference - 1 MeSH reference: D006954		External references: 1 OMIM reference - 1 MeSH reference: C538253

Monomelic amyotrophy
	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 - Autosomal recessive inheritance - Nerve conduction abnormality Occasional - Anomalies of the immunitary system - Movement disorder - Myoclonus / fasciculations - Tremor
Hyperlipoproteinemia type 5
(no data available)