Links from Gene

Gingival fibromatosis-hypertrichosis syndrome(HTC3)

MedGen UID:: 342675
•Concept ID:: C1851120
•: Disease or Syndrome

Synonyms:	Extreme hirsutism with gingival fibromatosis; Gingival fibromatosis with hypertrichosis; Hereditary gingival fibromatosis with hypertrichosis; Hypertrichosis terminalis, generalized, with gingival hyperplasia; Hypertrichosis with Acromegaloid Facial Features; HYPERTRICHOSIS, CONGENITAL GENERALIZED, 3, WITH OR WITHOUT GINGIVAL HYPERPLASIA
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	ABCA5 (17q24.3)

Monarch Initiative:	MONDO:0007610
OMIM®:	135400
Orphanet:	ORPHA2026

Definition

Extreme hirsutism with gingival fibromatosis follows a dominant pattern of inheritance (Weski, 1920; Garn and Hatch, 1950). There is no necessary relationship between the age of development of the gingival changes and the hypertrichosis. The latter may be present at birth but often appears at puberty (Anderson et al., 1969). For a discussion of genetic heterogeneity of congenital generalized hypertrichosis, see HTC1 (145701). [from OMIM]

Clinical features

From HPO

Gingival fibromatosis

MedGen UID:: 42017
•Concept ID:: C0016049
•: Finding

The presence of fibrosis of the gingiva.

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Bulbous nose

MedGen UID:: 66013
•Concept ID:: C0240543
•: Finding

Increased volume and globular shape of the anteroinferior aspect of the nose.

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Downslanted palpebral fissures

MedGen UID:: 98391
•Concept ID:: C0423110
•: Finding

The palpebral fissure inclination is more than two standard deviations below the mean.

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Epicanthus

MedGen UID:: 151862
•Concept ID:: C0678230
•: Congenital Abnormality

Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).

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Thick nasal alae