KEGG DISEASE: Alopecia-mental retardation syndrome

KEGG

DISEASE: Alopecia-mental retardation syndrome

Entry

H02303                      Disease

Name

Alopecia-mental retardation syndrome

Description

Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder characterized by total or partial absence of hair from the scalp and other parts of the body and associated with mental retardation. Three regions associated with APMR have been identified. Recently, a novel pathogenic, missense mutation in the AHSG has been revealed. AHSG maps within APMR linkage region 1 (APMR1) as reported before.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H02303  Alopecia-mental retardation syndrome
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
  nt06034  Cholesterol biosynthesis
   H02303  Alopecia-mental retardation syndrome

Pathway

Steroid biosynthesis

Network

nt06034 Cholesterol biosynthesis

Gene

(APMR1) AHSG [HSA:197] [KO:K23409]
(APMR4) LSS [HSA:4047] [KO:K01852]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:28054173 (AHSG)

Authors

Reza Sailani M, Jahanbani F, Nasiri J, Behnam M, Salehi M, Sedghi M, Hoseinzadeh M, Takahashi S, Zia A, Gruber J, Lynch JL, Lam D, Winkelmann J, Amirkiai S, Pang B, Rego S, Mazroui S, Bernstein JA, Snyder MP

Title

Association of AHSG with alopecia and mental retardation (APMR) syndrome.

Journal

Hum Genet 136:287-296 (2017)
DOI:10.1007/s00439-016-1756-5

Reference

PMID:30723320 (LSS)

Authors

Besnard T, Sloboda N, Goldenberg A, Kury S, Cogne B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignieres A, Faivre L, Gardie B, Gueant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamaziere A, Bezieau S, Feillet F, Isidor B

Title

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

Journal

Genet Med 21:2025-2035 (2019)
DOI:10.1038/s41436-019-0445-x

LinkDB

» Japanese version

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