Familial isolated trichomegaly
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial isolated trichomegaly | |
| fr | Trichomégalie isolée familiale | |
| de | Trichomegalie, isolierte, familiäre Form | |
| es | Tricomegalia familiar aislada | |
| it | Tricomegalia isolata familiare | |
| nl | Familiale geïsoleerde trichomegalie | |
| pt | Tricomegália familiar isolada | |
| pl | Rodzinna izolowana trichomegalia | |
| cs | Familiární izolovaná trichomegalie | |
| uk | Сімейна ізольована трихомегалія | |
| zh | 家族孤立性睫毛粗长症 | |
| tr | Ailesel izole trikomegali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 190330 | NTBT | validated | |
| ICD-10 | Q84.2 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0018472 | E | validated | |
| UMLS | C4706941 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183450Genetic hair anomaly
rare genetic diseases - ORPHA:79363Hair anomaly
rare skin diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3362OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGF5 | Disease-causing germline mutation(s) in | Assessed | HGNC:3683 | ENSG00000138675 | 165190 | 4q21.21 | fibroblast growth factor 5 | 24989505[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 24989505[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_ 24989505[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411788
- This record as JSON: /data/d/411788.json