FPH1
MCID: HYP563
MIFTS: 14

Hyperpigmentation, Familial Progressive, 1 (FPH1)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hyperpigmentation, Familial Progressive, 1

MalaCards integrated aliases for Hyperpigmentation, Familial Progressive, 1:

Name: Hyperpigmentation, Familial Progressive, 1 58 13 74
Fph1 58
Fph 58

Characteristics:

HPO:

33
hyperpigmentation, familial progressive, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614233
MedGen 43 C2681535
SNOMED-CT via HPO 70 263681008 4830009 49765009
UMLS 74 C2681535

Summaries for Hyperpigmentation, Familial Progressive, 1

OMIM : 58 Familial progressive hyperpigmentation (FPH) is a rare autosomal dominant disorder characterized by patches of hyperpigmentation in the skin, which are present at birth or in early infancy and increase in size and number with age (summary by Zhang et al., 2006). Also see familial progressive hyperpigmentation with or without hypopigmentation (FPHH; 145250). (614233)

MalaCards based summary : Hyperpigmentation, Familial Progressive, 1, also known as fph1, is related to primary hypomagnesemia and hyperpigmentation with or without hypopigmentation, familial progressive. An important gene associated with Hyperpigmentation, Familial Progressive, 1 is HPP1 (Hyperpigmentation, Progressive, 1). Affiliated tissues include skin, and related phenotype is hyperpigmentation of the skin.

Related Diseases for Hyperpigmentation, Familial Progressive, 1

Diseases in the Familial Progressive Hyperpigmentation family:

Hyperpigmentation, Familial Progressive, 1

Diseases related to Hyperpigmentation, Familial Progressive, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 primary hypomagnesemia 11.4
2 hyperpigmentation with or without hypopigmentation, familial progressive 11.2
3 hypomagnesemia 2, renal 11.1
4 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.1
5 stenotrophomonas maltophilia infection 10.1
6 familial progressive hyperpigmentation 10.1

Graphical network of the top 20 diseases related to Hyperpigmentation, Familial Progressive, 1:



Diseases related to Hyperpigmentation, Familial Progressive, 1

Symptoms & Phenotypes for Hyperpigmentation, Familial Progressive, 1

Human phenotypes related to Hyperpigmentation, Familial Progressive, 1:

33
# Description HPO Frequency HPO Source Accession
1 hyperpigmentation of the skin 33 HP:0000953

Clinical features from OMIM:

614233

Drugs & Therapeutics for Hyperpigmentation, Familial Progressive, 1

Search Clinical Trials , NIH Clinical Center for Hyperpigmentation, Familial Progressive, 1

Genetic Tests for Hyperpigmentation, Familial Progressive, 1

Anatomical Context for Hyperpigmentation, Familial Progressive, 1

MalaCards organs/tissues related to Hyperpigmentation, Familial Progressive, 1:

42
Skin

Publications for Hyperpigmentation, Familial Progressive, 1

Variations for Hyperpigmentation, Familial Progressive, 1

Expression for Hyperpigmentation, Familial Progressive, 1

Search GEO for disease gene expression data for Hyperpigmentation, Familial Progressive, 1.

Pathways for Hyperpigmentation, Familial Progressive, 1

GO Terms for Hyperpigmentation, Familial Progressive, 1

Sources for Hyperpigmentation, Familial Progressive, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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