MCID: FML313
MIFTS: 28

Familial Progressive Hyperpigmentation

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Progressive Hyperpigmentation

MalaCards integrated aliases for Familial Progressive Hyperpigmentation:

Name: Familial Progressive Hyperpigmentation 58 36
Hyperpigmentation, Progressive, Familial 39
Hyperpigmentation, Familial Progressive 70
Melanosis Universalis Hereditaria 58
Melanosis Diffusa Congenita 58
Melanosis, Universal 70
Universal Melanosis 58

Characteristics:

Orphanet epidemiological data:

58
familial progressive hyperpigmentation
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

KEGG 36 H00884
ICD10 via Orphanet 33 L81.4
UMLS via Orphanet 71 C1835039 C1840392
Orphanet 58 ORPHA79146
UMLS 70 C1835039 C1840392

Summaries for Familial Progressive Hyperpigmentation

KEGG : 36 Familial progressive hyperpigmentation is a dominantly inherited genodermatosis, in which patches of hyperpigmentation in the skin are present at birth. Increased number and average size of melanin granules in cells of pigmented area are the features of this disease.

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.

Wikipedia : 73 Familial progressive hyperpigmentation is characterized by patches of hyperpigmentation, present at... more...

Related Diseases for Familial Progressive Hyperpigmentation

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

Publications for Familial Progressive Hyperpigmentation

Articles related to Familial Progressive Hyperpigmentation:

(show all 19)
# Title Authors PMID Year
1
KITLG mutations cause familial progressive hyper- and hypopigmentation. 6 61
21368769 2011
2
Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. 61 6
19375057 2009
3
Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany. 6 61
15040480 2004
4
Familial hyper- and hypopigmentation with age-related pattern change. 6
15551335 2005
5
Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation. 61
32189379 2020
6
Familial progressive hyperpigmentation: A family resurvey and ultrastructural skin investigation. 61
28749546 2017
7
Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene. 61
27981619 2017
8
Familial progressive hyperpigmentation and hypopigmentation without KITLG mutation. 61
27859606 2016
9
Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review). 61
27666661 2016
10
Acquired universal melanosis (carbon baby syndrome). 61
23331086 2014
11
Familial progressive hyperpigmentation: a case report. 61
22577587 2012
12
A variant case of familial progressive hyperpigmentation. 61
21719402 2011
13
The genetic determination of skin pigmentation: KITLG and the KITLG/c-Kit pathway as key players in the onset of human familial pigmentary diseases. 61
21566575 2011
14
A kindred with familial progressive hyperpigmentation-like disorder: implication of fibroblast-derived growth factors in pigmentation. 61
19505863 2009
15
Linkage of a locus determining familial progressive hyperpigmentation (FPH) to chromosome 19p13.1-pter in a Chinese family. 61
16709486 2006
16
Progressive hyperpigmentation: case report with a clinical, histological, and ultrastructural investigation. 61
7873826 1994
17
Familial progressive hyperpigmentation: a family study in China. 61
1760373 1991
18
Familial progressive hyperpigmentation. 61
4326548 1971
19
[Simple universal melanosis, is it hereditary?]. 61
5618779 1967

Variations for Familial Progressive Hyperpigmentation

ClinVar genetic disease variations for Familial Progressive Hyperpigmentation:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KITLG NM_000899.5(KITLG):c.107A>G (p.Asn36Ser) SNV Pathogenic 12813 rs121918653 GRCh37: 12:88939551-88939551
GRCh38: 12:88545774-88545774
2 KITLG NM_000899.5(KITLG):c.98T>C (p.Val33Ala) SNV Pathogenic 183168 rs730882156 GRCh37: 12:88939560-88939560
GRCh38: 12:88545783-88545783
3 KITLG NM_000899.5(KITLG):c.100A>C (p.Thr34Pro) SNV Pathogenic 183169 rs730882157 GRCh37: 12:88939558-88939558
GRCh38: 12:88545781-88545781

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:

36
# Name Kegg Source Accession
1 Melanogenesis hsa04916

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 KITLG HGF FGF7
2
Show member pathways
12.84 KITLG HGF FGF7
3
Show member pathways
12.82 KITLG HGF FGF7
4
Show member pathways
12.79 KITLG HGF FGF7
5
Show member pathways
12.67 KITLG HGF FGF7
6
Show member pathways
12.62 KITLG HGF FGF7
7
Show member pathways
12.59 KITLG HGF FGF7
8
Show member pathways
12.54 KITLG HGF FGF7
9 12.38 KITLG HGF FGF7
10 12.28 KITLG HGF FGF7
11
Show member pathways
12.19 KITLG HGF FGF7
12
Show member pathways
12.14 KITLG HGF FGF7
13
Show member pathways
12.05 KITLG HGF FGF7
14 11.98 HGF FGF7
15
Show member pathways
11.93 KITLG HGF FGF7
16
Show member pathways
11.54 KITLG HGF FGF7
17 11.29 HGF FGF7
18 11.09 KITLG HGF
19 10.92 KITLG HGF FGF7
20 10.82 KITLG HGF FGF7
21 10.59 KITLG HGF FGF7

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 MAPK cascade GO:0000165 9.43 KITLG HGF FGF7
2 positive regulation of protein phosphorylation GO:0001934 9.37 HGF FGF7
3 positive regulation of protein kinase B signaling GO:0051897 9.33 KITLG HGF FGF7
4 positive chemotaxis GO:0050918 9.32 HGF FGF7
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.13 KITLG HGF FGF7
6 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling GO:0060665 8.62 HGF FGF7

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

# Name GO ID Score Top Affiliating Genes
1 chemoattractant activity GO:0042056 8.96 HGF FGF7
2 growth factor activity GO:0008083 8.8 KITLG HGF FGF7

Sources for Familial Progressive Hyperpigmentation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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