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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.
Features include very common findings: Generalized hirsutism; and common findings: Abnormality of the dentition, Gingival overgrowth, Coarse facial features, and Delayed eruption of teeth and others. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Seizure, Ataxia, Difficulty with thinking and memory (cognitive impairment) |
Pregnancy and birth | 1 | Congenital, generalized hypertrichosis |
Head and neck | 1 | Coarse facial features |
Age of onset: at birth.
ABCA5 encodes ATP binding cassette subfamily A member 5 (1,642 aa). Cholesterol efflux transporter in macrophages that is responsible for APOAI/high-density lipoproteins (HDL) formation at the plasma membrane under high cholesterol levels and participates in reverse cholesterol transport. Highest expression in Brain Cerebellum (43.8 TPM) and Brain Cerebellar Hemisphere (38.4 TPM).
Gingival fibromatosis-hypertrichosis syndrome is associated with mutations in the ABCA5 gene on chromosome 17.
The ABCA5 protein participates in ABCA5 transports CHOL from lysosomal lumen to cytosol pathway.
ABCA5 is classified as a druggable target (Abc Transporter, Druggable Genome, and Transporter categories) with score 26.1.
5 pathogenic variants reported in ABCA5 in ClinVar.
Genetic testing for ABCA5 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 very common feature, 5 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for gingival fibromatosis-hypertrichosis syndrome.
2 publications have been identified in PubMed for gingival fibromatosis-hypertrichosis syndrome. Research spans Basic Science / Preclinical (100%).
Chen D (2025). [PMID: 40818454](https://pubmed.ncbi.nlm.nih.gov/40818454/). *Cell*. [Basic Science / Preclinical]
Pei Y (2025). [PMID: 41233895](https://pubmed.ncbi.nlm.nih.gov/41233895/). *Genome medicine*. [Basic Science / Preclinical]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 1:27 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center