MCID: FML313
MIFTS: 28

Familial Progressive Hyperpigmentation

Categories: Skin diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Familial Progressive Hyperpigmentation

MalaCards integrated aliases for Familial Progressive Hyperpigmentation:

Name: Familial Progressive Hyperpigmentation 59 37
Hyperpigmentation, Progressive, Familial 40
Hyperpigmentation, Familial Progressive 73
Melanosis Universalis Hereditaria 59
Melanosis Diffusa Congenita 59
Melanosis, Universal 73
Universal Melanosis 59

Characteristics:

Orphanet epidemiological data:

59
familial progressive hyperpigmentation
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA79146
UMLS via Orphanet 74 C1840392 C1835039
ICD10 via Orphanet 34 L81.4
KEGG 37 H00884

Summaries for Familial Progressive Hyperpigmentation

MalaCards based summary : Familial Progressive Hyperpigmentation, also known as hyperpigmentation, progressive, familial, is related to hyperpigmentation with or without hypopigmentation, familial progressive and hyperpigmentation, familial progressive, 1. An important gene associated with Familial Progressive Hyperpigmentation is KITLG (KIT Ligand), and among its related pathways/superpathways are Melanogenesis and Cytokine Signaling in Immune system. Affiliated tissues include skin.

Wikipedia : 76 Familial progressive hyperpigmentation is characterized by patches of hyperpigmentation, present at... more...

Related Diseases for Familial Progressive Hyperpigmentation

Diseases in the Familial Progressive Hyperpigmentation family:

Hyperpigmentation, Familial Progressive, 1

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

# Related Disease Score Top Affiliating Genes
1 hyperpigmentation with or without hypopigmentation, familial progressive 11.7
2 hyperpigmentation, familial progressive, 1 11.0
3 clear cell acanthoma 9.8 FGF7 KITLG
4 gastrointestinal stromal tumor 9.7
5 cutaneous mastocytosis 9.7
6 carbon baby syndrome 9.7
7 dry eye syndrome 9.3 FGF7 HGF
8 hematologic cancer 9.3 FGF7 KITLG
9 pulmonary fibrosis, idiopathic 9.2 FGF7 HGF

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



Diseases related to Familial Progressive Hyperpigmentation

Symptoms & Phenotypes for Familial Progressive Hyperpigmentation

Drugs & Therapeutics for Familial Progressive Hyperpigmentation

Search Clinical Trials , NIH Clinical Center for Familial Progressive Hyperpigmentation

Genetic Tests for Familial Progressive Hyperpigmentation

Anatomical Context for Familial Progressive Hyperpigmentation

MalaCards organs/tissues related to Familial Progressive Hyperpigmentation:

41
Skin

Publications for Familial Progressive Hyperpigmentation

Articles related to Familial Progressive Hyperpigmentation:

# Title Authors Year
1
Familial progressive hyperpigmentation: A family resurvey and ultrastructural skin investigation. ( 28749546 )
2017
2
Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene. ( 27981619 )
2017
3
Familial progressive hyperpigmentation and hypopigmentation without KITLG mutation. ( 27859606 )
2016
4
Familial progressive hyperpigmentation: a case report. ( 22577587 )
2012
5
A variant case of familial progressive hyperpigmentation. ( 21719402 )
2011
6
A kindred with familial progressive hyperpigmentation-like disorder: implication of fibroblast-derived growth factors in pigmentation. ( 19505863 )
2009
7
Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. ( 19375057 )
2009
8
Linkage of a locus determining familial progressive hyperpigmentation (FPH) to chromosome 19p13.1-pter in a Chinese family. ( 16709486 )
2006
9
Familial progressive hyperpigmentation: a family study in China. ( 1760373 )
1991
10
Familial progressive hyperpigmentation. ( 4326548 )
1971

Variations for Familial Progressive Hyperpigmentation

Expression for Familial Progressive Hyperpigmentation

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

Pathways for Familial Progressive Hyperpigmentation

Pathways related to Familial Progressive Hyperpigmentation according to KEGG:

37
# Name Kegg Source Accession
1 Melanogenesis hsa04916

Pathways related to Familial Progressive Hyperpigmentation according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 FGF7 HGF KITLG
2
Show member pathways
12.82 FGF7 HGF KITLG
3
Show member pathways
12.79 FGF7 HGF KITLG
4
Show member pathways
12.76 FGF7 HGF KITLG
5
Show member pathways
12.63 FGF7 HGF KITLG
6
Show member pathways
12.58 FGF7 HGF KITLG
7
Show member pathways
12.55 FGF7 HGF KITLG
8
Show member pathways
12.48 FGF7 HGF KITLG
9 12.33 FGF7 HGF KITLG
10 12.25 FGF7 HGF KITLG
11
Show member pathways
12.14 FGF7 HGF KITLG
12
Show member pathways
12.07 FGF7 HGF KITLG
13
Show member pathways
11.95 FGF7 HGF KITLG
14 11.26 FGF7 HGF
15
Show member pathways
11.14 FGF7 HGF KITLG
16 11.05 HGF KITLG
17 10.92 FGF7 HGF KITLG

GO Terms for Familial Progressive Hyperpigmentation

Biological processes related to Familial Progressive Hyperpigmentation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.61 FGF7 HGF KITLG
2 regulation of signaling receptor activity GO:0010469 9.58 FGF7 HGF KITLG
3 MAPK cascade GO:0000165 9.5 FGF7 HGF KITLG
4 peptidyl-tyrosine phosphorylation GO:0018108 9.46 FGF7 HGF
5 positive regulation of protein kinase B signaling GO:0051897 9.43 FGF7 HGF KITLG
6 positive chemotaxis GO:0050918 9.37 FGF7 HGF
7 phosphatidylinositol phosphorylation GO:0046854 9.33 FGF7 HGF KITLG
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.13 FGF7 HGF KITLG
9 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling GO:0060665 8.62 FGF7 HGF

Molecular functions related to Familial Progressive Hyperpigmentation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.33 FGF7 HGF KITLG
2 protein tyrosine kinase activity GO:0004713 9.32 FGF7 HGF
3 chemoattractant activity GO:0042056 9.26 FGF7 HGF
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.13 FGF7 HGF KITLG
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.8 FGF7 HGF KITLG

Sources for Familial Progressive Hyperpigmentation

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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