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  3. HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; HTC3

Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia; Htc3

Description

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 (OMIM ).

Genes related to Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia; Htc3

  • ABCA5

Clinical Features

Top most frequent phenotypes and symptoms related to Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia; Htc3

  • Intellectual disability
  • Seizures
  • Pica
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Abnormal facial shape
  • Cognitive impairment
  • Epicanthus
  • Downslanted palpebral fissures
And another 30 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Not enough data available about incidence and published cases.


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Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia; Htc3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ABCA5.

By Fulgent Genetics Fulgent Genetics in United States.

ABCA5
Specificity
100 %
Genes
100 %

Alternate names

Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia; Htc3 Is also known as fibromatosis, gingival, with hypertrichosis, chromosome 17q24.2-q24.3 deletion syndrome, chromosome 17q24.2-q24.3 duplication syndrome, microdeletion 17q24.2-q24.3 syndrome, microduplication 17q24.2-q24.3 syndrome, hypertrichosis terminalis, generalized, with or without gingival hyperplasia;cght; congenital generalized hypertrichosis terminalis; hirsutism-congenital gingival hyperplasia syndrome; hypertrichosis with or without gingival hyperplasia.


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