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Monomelic amyotrophy

1 OMIM reference -
2 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1

Simpson-Golabi-Behmel syndrome type 2

1 OMIM reference -
1 associated gene
No signs/symptoms info

Monomelic amyotrophy

Simpson-Golabi-Behmel syndrome type 2

C5ORF42	(UniProt - OMIM)		OFD1	(UniProt - OMIM)
KIAA1377	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIAA1377	(0.63)	OFD1

Citations in the biomedical literature:

Monomelic amyotrophy		Simpson-Golabi-Behmel syndrome 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): - Lethal variant of Simpson-Golabi-Behmel syndrome - SGBS2

	Classification (Orphanet): (no data available)		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538253		External references: 1 OMIM reference - No MeSH references

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
Simpson-Golabi-Behmel syndrome type 2
(no data available)