Details of Disease | DrugMAP

General Information of Disease (ID: DISDYHGH)

Disease Name	Gingival fibromatosis-hypertrichosis syndrome
Synonyms	hypertrichosis terminalis, generalized, with or without gingival hyperplasia; hypertrichosis terminalis, generalized, with gingival hyperplasia; chromosome 17Q24.2-q24.3 Duplication syndrome; chromosome 17Q24.2-q24.3 deletion syndrome; hereditary gingival fibromatosis with hypertrichosis; microdeletion 17Q24.2-q24.3 syndrome; extreme hirsutism with gingival fibromatosis; hypertrichosis, congenital generalized, with or without gingival hyperplasia; gingival fibromatosis with hypertrichosis; microduplication 17Q24.2-q24.3 syndrome; HTC3; fibromatosis, gingival, with hypertrichosis; hirsutism-congenital gingival hyperplasia syndrome; CGHT; congenital generalised hypertrichosis terminalis; congenital generalized hypertrichosis terminalis; hypertrichosis with or without gingival hyperplasia; hypertrichosis, congenital generalized, with gingival hyperplasia
Definition	Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.
Disease Hierarchy	DISLRS4M: Ectodermal dysplasia DISZUK5W: Hypertrichosis DISDYHGH: Gingival fibromatosis-hypertrichosis syndrome
Disease Identifiers	MONDO ID MONDO_0007610 MESH ID C565016 UMLS CUI C1851120 OMIM ID 135400 MedGen ID 342675 Orphanet ID 2026

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA5	DT195NK	Supportive	Autosomal dominant	[1]
ABCA5	DT195NK	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCA5	OT4B9D92	Supportive	Autosomal dominant	[1]
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References

1	Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. PLoS Genet. 2014 May 15;10(5):e1004333.