MCID: HYP563
MIFTS: 15

Hyperpigmentation, Familial Progressive, 1

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Hyperpigmentation, Familial Progressive, 1

MalaCards integrated aliases for Hyperpigmentation, Familial Progressive, 1:

Name: Hyperpigmentation, Familial Progressive, 1 57 13 73
Fph1 57
Fph 57

Characteristics:

HPO:

32
hyperpigmentation, familial progressive, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614233
MedGen 42 C2681535
SNOMED-CT via HPO 69 263681008 4830009 49765009
UMLS 73 C2681535

Summaries for Hyperpigmentation, Familial Progressive, 1

OMIM : 57 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 11.2
2 hyperpigmentation with or without hypopigmentation, familial progressive 11.0
3 hypomagnesemia 2, renal 10.9
4 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.9
5 familial progressive hyperpigmentation 10.0

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

Clinical features from OMIM:

614233

Human phenotypes related to Hyperpigmentation, Familial Progressive, 1:

32
# Description HPO Frequency HPO Source Accession
1 hyperpigmentation of the skin 32 HP:0000953

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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