Hypertrichosis, congenital generalized, with or without gingival hyperplasia

Preferred Label : Hypertrichosis, congenital generalized, with or without gingival hyperplasia;

Symbol : HTC3;

CISMeF acronym : HTC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypertrichosis terminalis, generalized, with or without gingival hyperplasia; Chromosome 17q24.2-q24.3 deletion syndrome; Microdeletion 17q24.2-q24.3 syndrome; Microduplication 17q24.2-q24.3 syndrome; Chromosome 17q24.2-q24.3 duplication syndrome; Fibromatosis, gingival, with hypertrichosis;

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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gene ATP-binding cassette, subfamily A, member 5 gene (ABCA5, 612503.0001);

Prefixed ID : #135400;

Details

Origin ID

135400;

UMLS CUI

C1851120;

Automatic exact mappings (from CISMeF team)
- Gingival fibromatosis - hypertrichosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Gingival fibromatosis-hypertrichosis syndrome [ORDO Disease]
- hypertrichosis terminalis, generalized, with or without gingival hyperplasia [MeSH concept]
- hypertrichosis terminalis, generalized, with or without gingival hyperplasia [MeSH Supplementary Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily a, member 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bulbous nose [HPO term]
- Congenital, generalized hypertrichosis [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Gingival fibromatosis [HPO term]
- Hirsutism [HPO term]
- Hypertrichosis [HPO term]
- Thick nasal alae [HPO term]
- Wide nasal base [HPO term]
ORDO concept(s)
- Gingival fibromatosis-hypertrichosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gingival fibromatosis-hypertrichosis syndrome [ORDO Disease]
- hypertrichosis terminalis, generalized, with or without gingival hyperplasia [MeSH Supplementary Concept]
- hypertrichosis terminalis, generalized, with or without gingival hyperplasia [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients