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Monomelic amyotrophy

1 OMIM reference -
2 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1

Keratosis follicularis spinulosa decalvans

2 OMIM references -
2 associated genes
22 signs/symptoms

Monomelic amyotrophy

Keratosis follicularis spinulosa decalvans

C5ORF42	(UniProt - OMIM)		MBTPS2	(UniProt - OMIM)
KIAA1377	(UniProt - OMIM)		SAT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIAA1377	(0.63)	SAT1

Citations in the biomedical literature:

Monomelic amyotrophy		Keratosis follicularis spinulosa decalvans
	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): (no synonyms)

	Classification (Orphanet): (no data available)		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare skin 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C538253		External references: 2 OMIM references - 1 MeSH reference: C536159

Monomelic amyotrophy		Keratosis follicularis spinulosa decalvans
	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		Very frequent - Absent / decreased / thin eyebrows - Alopecia - Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Ichthyosis / ichthyosiform dermatitis - Thick skin / pachydermia / orange skin - X-linked recessive inheritance Frequent - Abnormal fingernails - Anomalies of eyelids, eyelashes and lacrimal system - Blepharitis / eyelid inflammation - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Corneal clouding / opacity / vascularisation - Ectropion / entropion / eyelid eversion - Myopia - Retinal detachment Occasional - Dental staining anomaly / spotted teeth / erythrodontia - Eczema - Enamel anomaly - Multiple caries