FLOTCH syndrome
disease diseaseOn this page
Also known as familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredityleukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome
Summary
FLOTCH syndrome (MONDO:0016083) is a disease. A subtype of subcutaneous tissue disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 9
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 6 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
9 HPO clinical features (Orphanet curated; top 9 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000492 | Abnormal eyelid morphology | Very frequent (80-99%) |
| HP:0000499 | Abnormal eyelash morphology | Very frequent (80-99%) |
| HP:0000613 | Photophobia | Very frequent (80-99%) |
| HP:0000653 | Sparse eyelashes | Very frequent (80-99%) |
| HP:0001597 | Abnormality of the nail | Very frequent (80-99%) |
| HP:0008069 | Neoplasm of the skin | Very frequent (80-99%) |
| HP:0100533 | Inflammatory abnormality of the eye | Very frequent (80-99%) |
| HP:0000498 | Blepharitis | Frequent (30-79%) |
| HP:0000787 | Nephrolithiasis | Frequent (30-79%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | FLOTCH syndrome |
| Mondo ID | MONDO:0016083 |
| MeSH | C537065 |
| Orphanet | 2045 |
| UMLS | C2931411 |
| MedGen | 419074 |
| GARD | 0002346 |
| Is cancer (heuristic) | no |
Also known as: familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity · leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome
Disease family
This is a subtype of subcutaneous tissue disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › subcutaneous tissue disorder › FLOTCH syndrome
Related subtypes (18): nodular fasciitis, hemangioma of subcutaneous tissue, adiposis dolorosa, isolated anhidrosis with normal sweat glands, fibrodysplasia ossificans progressiva, multiple symmetric lipomatosis, familial multiple lipomatosis, familial angiolipomatosis, cerebrotendinous xanthomatosis, dissecting cellulitis of the scalp, Pierpont syndrome, CLOVES syndrome, encephalocraniocutaneous lipomatosis, Lipedema, mycetoma, nodular non-suppurative panniculitis, Roch-Leri mesosomatous lipomatosis, cytophagic histiocytic panniculitis
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.