Aliases & Classifications for Pigmentation Disease

MalaCards integrated aliases for Pigmentation Disease:

Name: Pigmentation Disease 12 15
Pigmentation Disorders 55 73
Skin Pigmentation Disorder 73

Classifications:



External Ids:

Disease Ontology 12 DOID:10123
ICD9CM 35 709.09
ICD10 33 L81 L81.8

Summaries for Pigmentation Disease

MalaCards based summary : Pigmentation Disease, also known as pigmentation disorders, is related to dyschromatosis universalis hereditaria and reticulate acropigmentation of kitamura, and has symptoms including muscle weakness, polydipsia and pruritus. An important gene associated with Pigmentation Disease is POMC (Proopiomelanocortin), and among its related pathways/superpathways are Innate Immune System and HIV Life Cycle. Affiliated tissues include skin, bone and colon, and related phenotypes are growth/size/body region and cardiovascular system

Related Diseases for Pigmentation Disease

Diseases related to Pigmentation Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 dyschromatosis universalis hereditaria 31.1 POMC KITLG CREB1 ADAR
2 reticulate acropigmentation of kitamura 30.8 POFUT1 ADAR
3 hypomelanosis of ito 11.2
4 dyschromatosis symmetrica hereditaria 10.7
5 dowling-degos disease 10.7
6 neonatal jaundice 10.7
7 vitiligo-associated multiple autoimmune disease susceptibility 1 10.7
8 legius syndrome 10.7
9 verbal auditory agnosia 10.2 POMC EP300
10 indolent systemic mastocytosis 10.2 KITLG KIT
11 malignant leydig cell tumor 10.2 POMC KIT
12 aggressive systemic mastocytosis 10.2 KITLG KIT
13 scleredema adultorum 10.2 POMC INS
14 mast-cell leukemia 10.2 KITLG KIT
15 pituitary apoplexy 10.2 POMC INS
16 pancreatic endocrine carcinoma 10.2 POMC INS
17 noma 10.2 POMC INS
18 cutaneous solitary mastocytoma 10.2 POMC KITLG KIT
19 mast cell neoplasm 10.1 KITLG KIT
20 sheehan syndrome 10.1 POMC INS
21 autosomal dominant non-syndromic intellectual disability 2 10.1 PKM KIT
22 mucinoses 10.1 POMC INS
23 hyperpituitarism 10.1 POMC INS
24 diabetic encephalopathy 10.1 INS CREB1
25 human t-cell leukemia virus type 2 10.1 EP300 CREB1 ADAR
26 ewing's family of tumors 10.1 KITLG KIT
27 bilirubin, serum level of, quantitative trait locus 1 10.1 UGT1A6 UGT1A1
28 complete generalized lipodystrophy 10.0 INS AGPAT2
29 descending colon cancer 10.0 UGT1A6 UGT1A1
30 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0 INS AGPAT2
31 pigmented villonodular synovitis 10.0
32 testicular germ cell tumor 10.0 KITLG KIT FGFR3
33 lipodystrophy, congenital generalized, type 1 10.0 INS AGPAT2
34 bone marrow cancer 10.0 KITLG KIT FGFR3
35 inherited metabolic disorder 10.0 UGT1A6 UGT1A1 INS
36 kernicterus 10.0 UGT1A6 UGT1A1 PKM
37 lipodystrophy, familial partial, type 2 10.0 INS AGPAT2
38 bilirubin metabolic disorder 10.0 UGT1A6 UGT1A1 PKM
39 fetal erythroblastosis 9.9 POMC INS
40 dowling-degos disease 1 9.8 POMC KITLG KIT IKBKG FGFR3
41 large intestine cancer 9.8 UGT1A6 UGT1A1 PKM INS
42 lentigines 9.6
43 hutchinson-gilford progeria syndrome 9.6
44 ichthyosis prematurity syndrome 9.6
45 oculocutaneous albinism 9.6
46 albinism 9.6
47 spastic paraparesis 9.6
48 nevus of ota 9.6

Graphical network of the top 20 diseases related to Pigmentation Disease:



Diseases related to Pigmentation Disease

Symptoms & Phenotypes for Pigmentation Disease

UMLS symptoms related to Pigmentation Disease:


muscle weakness, polydipsia, pruritus, exanthema

MGI Mouse Phenotypes related to Pigmentation Disease:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.26 ADAR AGPAT2 CREB1 EP300 FGFR3 IKBKG
2 cardiovascular system MP:0005385 10.23 ADAR CREB1 EP300 IKBKG INS KIT
3 cellular MP:0005384 10.22 ADAR CREB1 EP300 FGFR3 IKBKG INS
4 endocrine/exocrine gland MP:0005379 10.19 AGPAT2 CREB1 EP300 IKBKG INS KIT
5 homeostasis/metabolism MP:0005376 10.19 ADAR AGPAT2 CREB1 EP300 FGFR3 IKBKG
6 immune system MP:0005387 10.18 ADAR AGPAT2 EP300 FGFR3 IKBKG INS
7 mortality/aging MP:0010768 10.18 ADAR AGPAT2 CREB1 EP300 FGFR3 IKBKG
8 hematopoietic system MP:0005397 10.16 ADAR AGPAT2 EP300 FGFR3 IKBKG INS
9 integument MP:0010771 10.11 ADAR AGPAT2 FGFR3 IKBKG INS KIT
10 digestive/alimentary MP:0005381 10.1 AGPAT2 EP300 FGFR3 IKBKG INS KIT
11 embryo MP:0005380 10.09 ADAR CREB1 EP300 INS KIT KITLG
12 liver/biliary system MP:0005370 9.98 ADAR AGPAT2 IKBKG INS KIT KITLG
13 nervous system MP:0003631 9.97 ADAR CREB1 EP300 FGFR3 INS KIT
14 neoplasm MP:0002006 9.91 EP300 FGFR3 IKBKG KIT KITLG PKM
15 normal MP:0002873 9.8 CREB1 EP300 FGFR3 IKBKG INS KIT
16 renal/urinary system MP:0005367 9.63 AGPAT2 EP300 FGFR3 INS KIT POMC
17 reproductive system MP:0005389 9.5 CREB1 FGFR3 IKBKG INS KIT KITLG
18 skeleton MP:0005390 9.23 ADAR AGPAT2 CREB1 FGFR3 INS KIT

Drugs & Therapeutics for Pigmentation Disease

Search Clinical Trials , NIH Clinical Center for Pigmentation Disease

Genetic Tests for Pigmentation Disease

Anatomical Context for Pigmentation Disease

MalaCards organs/tissues related to Pigmentation Disease:

41
Skin, Bone, Colon, Pituitary, Pancreas, T Cells, Bone Marrow

Publications for Pigmentation Disease

Articles related to Pigmentation Disease:

(show all 21)
# Title Authors Year
1
Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes. ( 29904107 )
2018
2
Classification of non-tumorous skin pigmentation disorders using voting based probabilistic linear discriminant analysis. ( 29909227 )
2018
3
Pigmentation Disorders: Diagnosis and Management. ( 29431372 )
2017
4
Hair pigmentation disorders or 50 years of German-Polish alliance for study on a severe side effect of chemotherapy: Kostanecki's legacy. ( 25279945 )
2015
5
Pigmentation disorders. ( 26738250 )
2015
6
Pigmentation disorders: hyperpigmentation and hypopigmentation. ( 24314378 )
2014
7
Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa. ( 24300644 )
2013
8
The etiology and molecular genetics of human pigmentation disorders. ( 23799582 )
2013
9
Mosaic pigmentation disorders and associated syndromes. ( 22150346 )
2012
10
Pigmentation disorders. ( 21789987 )
2011
11
Mitogen-activated protein/extracellular signal-regulated kinase kinase inhibition results in biphasic alteration of epidermal homeostasis with keratinocytic apoptosis and pigmentation disorders. ( 20103661 )
2010
12
Common pigmentation disorders. ( 19178061 )
2009
13
The use of botanical extracts as topical skin-lightening agents for the improvement of skin pigmentation disorders. ( 18369335 )
2008
14
[Factors affecting melanogenesis and methods used for identification of pigmentation disorders]. ( 18942345 )
2008
15
Pigmentation disorders in skin of color: the role of natural substances. ( 19064237 )
2008
16
Guidelines for clinical trials in melasma. Pigmentation Disorders Academy. ( 17176301 )
2006
17
Epidemiologic and etiologic features of pigmentation disorders observed during consultation at the Dermatology Center of Abidjan, Ivory Coast. ( 16187956 )
2005
18
Spotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disorders. ( 15140066 )
2004
19
Racial differences in the treatment of pigmentation disorders in outpatient settings: analysis of US national practice data. ( 15764036 )
2004
20
Melanin pigmentation disorders of the skin and oral mucosa. ( 1860110 )
1991
21
Pigmentation disorders. ( 3378370 )
1988

Variations for Pigmentation Disease

Expression for Pigmentation Disease

Search GEO for disease gene expression data for Pigmentation Disease.

Pathways for Pigmentation Disease

Pathways related to Pigmentation Disease according to GeneCards Suite gene sharing:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 ADAR AGPAT2 CREB1 EP300 FGFR3 IKBKG
2
Show member pathways
13.58 CREB1 EP300 FGFR3 IKBKG KIT KITLG
3
Show member pathways
13.39 CREB1 EP300 FGFR3 IKBKG INS KIT
4
Show member pathways
13.32 CREB1 FGFR3 IKBKG INS KIT KITLG
5
Show member pathways
13.21 ADAR FGFR3 IKBKG KIT KITLG POMC
6
Show member pathways
12.98 CREB1 FGFR3 INS KIT KITLG
7
Show member pathways
12.93 CREB1 EP300 FGFR3 KIT KITLG
8
Show member pathways
12.91 FGFR3 IKBKG INS KIT KITLG
9
Show member pathways
12.72 CREB1 EP300 IKBKG INS KIT
10 12.68 EP300 FGFR3 IKBKG KIT KITLG
11
Show member pathways
12.57 EP300 FGFR3 IKBKG KITLG
12 12.56 FGFR3 IKBKG INS KIT KITLG
13
Show member pathways
12.5 FGFR3 IKBKG INS KIT KITLG
14
Show member pathways
12.4 CREB1 EP300 FGFR3 IKBKG INS KIT
15
Show member pathways
12.35 CREB1 EP300 IKBKG INS
16
Show member pathways
12.27 CREB1 FGFR3 IKBKG INS KIT KITLG
17
Show member pathways
12.26 AGPAT2 INS KIT KITLG
18 12.26 AGPAT2 INS PKM UGT1A1 UGT1A6
19
Show member pathways
12.13 ADAR FGFR3 KIT KITLG
20 12.11 CREB1 EP300 IKBKG PKM
21
Show member pathways
12.06 CREB1 EP300 KIT KITLG POMC
22
Show member pathways
12.05 EP300 KIT KITLG
23 12 FGFR3 KIT KITLG
24 11.94 AGPAT2 CREB1 INS
25 11.8 CREB1 EP300 PKM
26 11.68 CREB1 EP300 POMC
27 11.65 EP300 KIT KITLG
28 11.54 FGFR3 KIT PKM
29 11.53 CREB1 EP300 PKM
30 11.44 CREB1 EP300 INS
31
Show member pathways
11.35 CREB1 EP300 IKBKG
32 11.29 EP300 UGT1A1 UGT1A6
33 11.26 INS KIT KITLG
34 11.02 CREB1 IKBKG
35 10.83 KIT KITLG
36 10.63 CREB1 EP300 KIT KITLG POMC

GO Terms for Pigmentation Disease

Cellular components related to Pigmentation Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 secretory granule lumen GO:0034774 8.8 INS PKM POMC

Biological processes related to Pigmentation Disease according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.71 CREB1 EP300 PKM
2 positive regulation of MAPK cascade GO:0043410 9.7 FGFR3 INS KIT
3 phosphatidylinositol phosphorylation GO:0046854 9.58 FGFR3 KIT KITLG
4 response to organic substance GO:0010033 9.54 CREB1 PKM UGT1A1
5 positive regulation of long-term synaptic potentiation GO:1900273 9.51 CREB1 INS
6 positive regulation of lipid biosynthetic process GO:0046889 9.49 CREB1 INS
7 embryonic hemopoiesis GO:0035162 9.48 KIT KITLG
8 cellular glucuronidation GO:0052695 9.46 UGT1A1 UGT1A6
9 megakaryocyte development GO:0035855 9.43 EP300 KIT
10 xenobiotic glucuronidation GO:0052697 9.32 UGT1A1 UGT1A6
11 flavonoid glucuronidation GO:0052696 9.26 UGT1A1 UGT1A6
12 ectopic germ cell programmed cell death GO:0035234 9.16 KIT KITLG
13 negative regulation of protein oligomerization GO:0032460 8.96 EP300 INS
14 positive regulation of protein kinase B signaling GO:0051897 8.92 FGFR3 INS KIT KITLG

Molecular functions related to Pigmentation Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucuronosyltransferase activity GO:0015020 9.37 UGT1A1 UGT1A6
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 FGFR3 KIT KITLG
3 retinoic acid binding GO:0001972 9.32 UGT1A1 UGT1A6
4 UDP-glycosyltransferase activity GO:0008194 9.26 UGT1A1 UGT1A6
5 transferase activity GO:0016740 9.23 AGPAT2 EP300 FGFR3 KIT PKM POFUT1
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 FGFR3 KIT KITLG

Sources for Pigmentation Disease

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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