Hyperpigmentation with or without hypopigmentation, familial progressive

Preferred Label : Hyperpigmentation with or without hypopigmentation, familial progressive;

Symbol : FPHH;

CISMeF acronym : FPHH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MUH; FPH2; Melanosis universalis hereditaria; Hyperpigmentation, familial progressive, 2;

Description : Familial progressive hyperpigmentation (FPH) is an autosomal dominant disorder characterized by hyperpigmented patches in the skin, which are present in early infancy and increase in size and number with age (summary by Wang et al., 2009). For a discussion of genetic heterogeneity of FPH, see FPH1 (614233).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the KIT ligand gene (KITLG, 184745.0003);

Prefixed ID : #145250;

Détails

Origin ID

145250;

UMLS CUI

C1840392;

Automatic exact mappings (from CISMeF team)
- Allopurinol [NCIt concept]
- Familial progressive hyper- and hypopigmentation [ORDO Disease]
- Familial progressive hyperpigmentation [ORDO Disease]
- Familial progressive hyperpigmentation (disorder) [SNOMED CT concept]
- Familial progressive hyperpigmentation and hypopigmentation of skin (disorder) [SNOMED CT concept]
- HPP1 Gene [NCIt concept]
- Hereditary pyropoikilocytosis (disorder) [SNOMED CT concept]
- KIT ligand [ORDO Gene]
- KIT ligand [HGNC gene]
- KITLG wt Allele [NCIt concept]
- N-(4'-fluorobutyrophenone)-4-(4-chlorophenyl)pyridinium [MeSH concept]
- N-(4'-fluorobutyrophenone)-4-(4-chlorophenyl)pyridinium [MeSH Supplementary Concept]
- N-succinimidyl-3-(4-hydroxyphenyl)propionate [MeSH concept]
- N-succinimidyl-3-(4-hydroxyphenyl)propionate [MeSH Supplementary Concept]
- familial progressive hyperpigmentation with or without hypopigmentation [DO Concept]
- succinimido 3-(4-hydroxyphenyl)propionate [Substance BNPC]
Broader ORDO disease(s)
- Familial progressive hyperpigmentation [ORDO Disease]
DO Cross reference
- familial progressive hyperpigmentation with or without hypopigmentation [DO Concept]
Genes related to phenotype
- Kit ligand [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Histological abnormality of the skin [HPO term]
- Hyperkeratosis [HPO term]
- Hypermelanotic macule [HPO term]
- Hyperpigmented skin patches [HPO term]
- Hypopigmented skin patches [HPO term]
- Infantile onset [HPO term]
- Multiple lentigines [HPO term]
- Progressive hyperpigmentation [HPO term]
- Vitiligo [HPO term]
ORDO concept(s)
- Familial progressive hyper- and hypopigmentation [ORDO Disease]
- Familial progressive hyperpigmentation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial progressive hyper- and hypopigmentation [ORDO Disease]
- Familial progressive hyperpigmentation (disorder) [SNOMED CT concept]
- hyperpigmentation, familial progressive [MeSH Supplementary Concept]
- hyperpigmentation, familial progressive [MeSH concept]
Validated automatic mappings to NTBT
- hyperpigmentation, familial progressive [MeSH Supplementary Concept]

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