KEGG DISEASE: Gingival fibromatosis with hypertrichosis

KEGG

DISEASE: Gingival fibromatosis with hypertrichosis

Entry

H02417                      Disease

Name

Gingival fibromatosis with hypertrichosis

Description

Gingival fibromatosis with hypertrichosis is a rare autosomal recessive congenital generalized hypertrichosis terminalis. It is characterized by hair growth that is excessive for the body size and age of an individual and is independent of androgen stimulation. It has been reported that mutations in the cholesterol transporter gene ABCA5 are associated with this disease.

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
    H02417  Gingival fibromatosis with hypertrichosis

Pathway

ABC transporters

Gene

ABCA5 [HSA:23461] [KO:K05648]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Canun S, Guevara-Sangines EG, Elvira-Morales A, Sierra-Romero Mdel C, Rodriguez-Asbun H

Title

Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity.

Journal

Am J Med Genet A 116A:278-83 (2003)
DOI:10.1002/ajmg.a.10883

Reference

Authors

DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, Lopez-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM

Title

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

Journal

PLoS Genet 10:e1004333 (2014)
DOI:10.1371/journal.pgen.1004333

LinkDB

» Japanese version

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