FPH1
MCID: HYP563
MIFTS: 17

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 56 13 71
Fph1 56
Fph 56

Characteristics:

HPO:

31
hyperpigmentation, familial progressive, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 614233
MedGen 41 C2681535
SNOMED-CT via HPO 68 263681008 4830009 49765009
UMLS 71 C2681535

Summaries for Hyperpigmentation, Familial Progressive, 1

OMIM : 56 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 11.6
2 hyperpigmentation with or without hypopigmentation, familial progressive 11.3
3 hypomagnesemia 2, renal 11.2
4 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
5 peutz-jeghers syndrome 10.2
6 dowling-degos disease 1 10.2
7 stenotrophomonas maltophilia infection 10.2
8 familial progressive hyperpigmentation 10.2

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:

31
# Description HPO Frequency HPO Source Accession
1 hyperpigmentation of the skin 31 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:

40
Skin

Publications for Hyperpigmentation, Familial Progressive, 1

Articles related to Hyperpigmentation, Familial Progressive, 1:

# Title Authors PMID Year
1
Linkage of a locus determining familial progressive hyperpigmentation (FPH) to chromosome 19p13.1-pter in a Chinese family. 56
16709486 2006
2
Gentisate and 3-oxoadipate pathways in the yeast Candida parapsilosis: identification and functional analysis of the genes coding for 3-hydroxybenzoate 6-hydroxylase and 4-hydroxybenzoate 1-hydroxylase. 61
21474535 2011
3
Natural variation of ascospore and conidial germination by Fusarium verticillioides and other Fusarium species. 61
16413990 2006
4
Genetic and morphological characterization of a Fusarium verticillioides conidiation mutant. 61
21148918 2004

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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