Familial progressive hyper- and hypopigmentation
Synonyms: FPHH
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial progressive hyper- and hypopigmentation | FPHH |
| fr | Hyper- et hypopigmentation progressive familiale | = en |
| de | Hyper- und Hypopigmentation, familiäre progressive | = en |
| es | Hiper- e hipopigmentación familiar progresiva | |
| it | Iper- e ipopigmentazione progressiva familiare | = en |
| nl | Familiale progressieve hyper- en hypopigmentatie | = en |
| pt | Hiper- e hipopigmentação progressiva familiar | = en |
| pl | Rodzinna postępująca hiper- i hipopigmentacja | = en |
| cs | Familiární progresivní hyperpigmentace a hypopigmentace | = en |
| uk | Сімейна прогресуюча гіпер- та гіпопігментація | = en |
| zh | 家族性进行性色素过度沉着症 | = en |
| tr | Ailesel ilerleyici hiper- ve hipopigmentasyon | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145250 | NTBT | validated | |
| ICD-10 | L81.8 | NTBT | attributed | validated |
| ICD-11 | EC23.Y | NTBT | index | validated |
| MONDO | 0017239 | E | validated | |
| UMLS | C4706423 | 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:183463Genetic pigmentation anomaly of the skin
rare genetic diseases - ORPHA:79374Pigmentation anomaly of the skin
rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KITLG | Disease-causing germline mutation(s) in | Assessed | HGNC:6343 | ENSG00000049130 | 184745 | 12q21.32 | KIT ligand | 21368769[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 21368769[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/280628
- This record as JSON: /data/d/280628.json