Alopecia-intellectual disability syndrome 1

Preferred Label : Alopecia-intellectual disability syndrome 1;

Symbol : APMR1;

CISMeF acronym : APMR; APMR1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : APMR; Amr syndrome; Alopecia-mental retardation syndrome 1;

Description : Alopecia-mental retardation syndrome-1 (APMR1) has been mapped to chromosome 3q26.3-q27.3. Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder in which affected individuals show loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation (summary by Wali et al., 2007). - Genetic Heterogeneity of Alopecia-Mental Retardation Syndrome Additional loci for alopecia-mental retardation syndrome have been mapped to chromosome 3q26.2-q26.31 (APMR2; 610422) and chromosome 18q11.2-q12.2 (APMR3; 613930).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-2-HS-glycoprotein gene (AHSG, 138680.0004);

Prefixed ID : #203650;

Details

Origin ID

203650;

UMLS CUI

C1859878;

Currated CISMeF NLP mapping
- AMR Syndrome [MeSH concept]
- AMR Syndrome [MeSH Supplementary Concept]
DO Cross reference
- alopecia-mental retardation syndrome 1 [DO Concept]
Genes related to phenotype
- Alpha-2-hs-glycoprotein [OMIM gene]
HPO term(s)
- Alopecia universalis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
ORDO concept(s)
- Alopecia-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AMR Syndrome [MeSH Supplementary Concept]
- AMR Syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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