ODCs

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

PROTEIN INTERACTIONS: 1

7 OMIM references -
6 associated genes
12 signs/symptoms

Pelizaeus-Merzbacher-like due to AIMP1 mutation

Hypotrichosis simplex


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AIMP1	(0.63)	RPL21

Citations in the biomedical literature:

Pelizaeus-Merzbacher-like due to AIMP1 mutation		Hypotrichosis simplex
	Synonym(s): (no synonyms)		Synonym(s): - Hereditary hypotrichosis simplex

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the skin and subcutaneous tissue -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 7 OMIM references - 1 MeSH reference: C537160

Hypotrichosis simplex
	Very frequent - Absent / decreased lashes - Absent / decreased / thin eyebrows - Alopecia - Autosomal dominant inheritance - Autosomal recessive inheritance - Decreased body hair / axillar / pubic hairlessness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Frequent - Lanugo - Woolly / frizzy hair Occasional - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Pruritus / itching
Pelizaeus-Merzbacher-like due to AIMP1 mutation
(no data available)