Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia (HTC3)

Alias:
Gingival Fibromatosis-Hypertrichosis Syndrome
Hypertrichosis Terminalis, Generalized, with or Without Gingival Hyperplasia
Hypertrichosis with or Without Gingival Hyperplasia
Hirsutism-Congenital Gingival Hyperplasia Syndrome
Congenital Generalized Hypertrichosis Terminalis
Cght
Hypertrichosis, Congenital Generalized, with Gingival Hyperplasia
Chromosome 17q24.2-Q24.3 Duplication Syndrome
Fibromatosis, Gingival, with Hypertrichosis
Chromosome 17q24.2-Q24.3 Deletion Syndrome
Hirsutism Congenital Gingival Hyperplasia
Microduplication 17q24.2-Q24.3 Syndrome
Microdeletion 17q24.2-Q24.3 Syndrome
Fibromatosis Gingival Hypertrichosis
Htc3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia, also known as gingival fibromatosis-hypertrichosis syndrome, is related to hypertrichosis and fibromatosis, gingival, with hypertrichosis and mental retardation. An important gene associated with Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia is ABCA5 (ATP Binding Cassette Subfamily A Member 5). Affiliated tissues include skin, and related phenotypes are generalized hirsutism and hirsutism

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
--
1
3
13

Medical Symptom

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Description
HPO Frequency
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No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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