Details of Disease

Disease Name

Hypopigmentation of the skin

hypomelanoses; hypomelanosis; hypopigmentation of the skin; hypopigmentation of the skin (disease)

Definition

A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.

Disease Hierarchy

DISWD40R: Disease

DIS3BXY0: Skin pigmentation disorder

DIS39YKC: Hypopigmentation of the skin

Disease Identifiers

MONDO ID

MONDO_0019290

MESH ID

D017496

UMLS CUI

C0162835

MedGen ID

102477

HPO ID

HP:0001010

Orphanet ID

79376

SNOMED CT ID

18655006

General Information of Disease (ID: DIS39YKC)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 13 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLCN7	TTST1AJ	Limited	Genetic Variation	[1]
ARAF	TT5TURO	Strong	Biomarker	[2]
BACE1	TTJUNZF	Strong	Biomarker	[3]
BACE2	TT69DB8	Strong	Genetic Variation	[3]
FCER1G	TTDGEC0	Strong	Biomarker	[4]
HTR1A	TTSQIFT	Strong	Biomarker	[5]
MLANA	TT362RB	Strong	Biomarker	[6]
PIKFYVE	TTA4M1N	Strong	Genetic Variation	[7]
PMEL	TT8MK59	Strong	Genetic Variation	[3]
PRSS1	TT2WR1T	Strong	Altered Expression	[8]
RHOA	TTP2U16	Strong	Biomarker	[9]
UBE3A	TTUZX6V	Strong	Biomarker	[10]
TYR	TTULVH8	Definitive	Biomarker	[11]
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⏷ Show the Full List of 13 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC24A5	DTAWCS9	Strong	Biomarker	[12]
SLC45A2	DTNCJAT	Strong	Genetic Variation	[13]
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This Disease Is Related to 33 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SASH1	OTQA8BD4	Limited	Biomarker	[14]
MITF	OT6XJCZH	moderate	Genetic Variation	[15]
MYO5A	OTMWLP3E	moderate	Genetic Variation	[16]
APOD	OTT77XW8	Strong	Genetic Variation	[17]
CITED1	OTUJQ3VL	Strong	Genetic Variation	[18]
DCT	OTYVNTBG	Strong	Biomarker	[19]
EPG5	OT3P5HQD	Strong	Genetic Variation	[20]
FGL1	OTT0QHQ1	Strong	Altered Expression	[21]
FIG4	OT501PY9	Strong	Genetic Variation	[7]
FTL	OTYQA8A6	Strong	Altered Expression	[22]
GABRB3	OT80C3D4	Strong	Biomarker	[23]
GLI3	OTKDOE94	Strong	Biomarker	[24]
GPR143	OTWUA2AV	Strong	Biomarker	[25]
HPS1	OTKS5I7T	Strong	Altered Expression	[21]
HPS3	OTAKROK7	Strong	Biomarker	[26]
HPS5	OTLO2374	Strong	Genetic Variation	[27]
HSPA1A	OTKGIE76	Strong	Biomarker	[28]
MATN1	OTBRTCTQ	Strong	Genetic Variation	[29]
MLPH	OT7ADCXL	Strong	Genetic Variation	[30]
NIF3L1	OT4MP90J	Strong	Altered Expression	[31]
OCA2	OTDWIGBF	Strong	Biomarker	[23]
OXA1L	OTS0BFRD	Strong	Biomarker	[32]
RAB27A	OT9SQRWY	Strong	Genetic Variation	[33]
RAB27B	OTPF9D0K	Strong	Altered Expression	[34]
RAB38	OTU0NZU0	Strong	Biomarker	[35]
RANBP2	OTFG5CVF	Strong	Biomarker	[36]
RNASE2	OT8Z4FNE	Strong	Biomarker	[37]
RPE	OT0XT3JU	Strong	Biomarker	[38]
RTL1	OTOT33IM	Strong	Biomarker	[6]
SEPTIN4	OTD16B30	Strong	Biomarker	[39]
SOX10	OTF25ULQ	Strong	Genetic Variation	[40]
TCOF1	OT4BOYTM	Strong	Biomarker	[41]
POFUT1	OTOBJZIT	Definitive	Biomarker	[42]
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⏷ Show the Full List of 33 DOT(s)

References

1	Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. Am J Hum Genet. 2019 Jun 6;104(6):1127-1138. doi: 10.1016/j.ajhg.2019.04.008. Epub 2019 May 30.
2	Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.Am J Med Genet A. 2017 Jul;173(7):1943-1946. doi: 10.1002/ajmg.a.38269. Epub 2017 May 10.
3	Design and Synthesis of Clinical Candidate PF-06751979: A Potent, Brain Penetrant, -Site Amyloid Precursor Protein Cleaving Enzyme 1 (BACE1) Inhibitor Lacking Hypopigmentation.J Med Chem. 2018 May 24;61(10):4476-4504. doi: 10.1021/acs.jmedchem.8b00246. Epub 2018 Apr 17.
4	Tumor immunity and autoimmunity induced by immunization with homologous DNA.J Clin Invest. 1998 Sep 15;102(6):1258-64. doi: 10.1172/JCI4004.
5	NK1R/5-HT1AR interaction is related to the regulation of melanogenesis.FASEB J. 2018 Jun;32(6):3193-3214. doi: 10.1096/fj.201700564RR. Epub 2018 Feb 7.
6	Differential expression of inhibitory or activating CD94/NKG2 subtypes on MART-1-reactive T cells in vitiligo versus melanoma: a case report.J Invest Dermatol. 2002 Apr;118(4):595-9. doi: 10.1046/j.1523-1747.2002.01698.x.
7	The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation.J Cell Sci. 2019 Feb 28;132(5):jcs229500. doi: 10.1242/jcs.229500.
8	Coupling and uncoupling of tumor immunity and autoimmunity.J Exp Med. 1999 Dec 6;190(11):1717-22. doi: 10.1084/jem.190.11.1717.
9	Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.Nat Genet. 2019 Oct;51(10):1438-1441. doi: 10.1038/s41588-019-0498-4. Epub 2019 Sep 30.
10	UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome.Pigment Cell Melanoma Res. 2011 Oct;24(5):944-52. doi: 10.1111/j.1755-148X.2011.00884.x. Epub 2011 Jul 27.
11	Nicastrin Deficiency Induces Tyrosinase-Dependent Depigmentation and Skin Inflammation.J Invest Dermatol. 2020 Feb;140(2):404-414.e13. doi: 10.1016/j.jid.2019.07.702. Epub 2019 Aug 19.
12	Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.Gene. 2012 Dec 15;511(2):470-4. doi: 10.1016/j.gene.2012.09.012. Epub 2012 Sep 23.
13	Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.BMC Med Genet. 2012 Nov 21;13:111. doi: 10.1186/1471-2350-13-111.
14	Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination.Clin Genet. 2016 Oct;90(4):372-7. doi: 10.1111/cge.12728. Epub 2016 Feb 3.
15	Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness.Anim Genet. 2019 Apr;50(2):172-174. doi: 10.1111/age.12762. Epub 2019 Jan 15.
16	Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest. 2003 Aug;112(3):450-6. doi: 10.1172/JCI18264.
17	Pre-control relationship of onchocercal skin disease with onchocercal infection in Guinea Savanna, Northern Nigeria.PLoS Negl Trop Dis. 2017 Mar 29;11(3):e0005489. doi: 10.1371/journal.pntd.0005489. eCollection 2017 Mar.
18	msg1, a novel melanocyte-specific gene, encodes a nuclear protein and is associated with pigmentation.Proc Natl Acad Sci U S A. 1996 Oct 29;93(22):12298-303. doi: 10.1073/pnas.93.22.12298.
19	Biolistic DNA vaccination against melanoma.Methods Mol Biol. 2013;940:317-37. doi: 10.1007/978-1-62703-110-3_24.
20	First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.Am J Med Genet A. 2014 Dec;164A(12):3170-5. doi: 10.1002/ajmg.a.36772. Epub 2014 Oct 20.
21	Characterizing renal involvement in Hermansky-Pudlak Syndrome in a zebrafish model.Sci Rep. 2019 Nov 27;9(1):17718. doi: 10.1038/s41598-019-54058-5.
22	Ferritin light chain down-modulation generates depigmentation in human metastatic melanoma cells by influencing tyrosinase maturation.J Cell Physiol. 2006 Mar;206(3):843-8. doi: 10.1002/jcp.20543.
23	Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.Cell Rep. 2016 Dec 20;17(12):3115-3124. doi: 10.1016/j.celrep.2016.11.067.
24	A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy.Hum Mol Genet. 2008 Jul 15;17(14):2118-31. doi: 10.1093/hmg/ddn110. Epub 2008 Apr 7.
25	GPR143 mutational analysis in two Italian families with X-linked ocular albinism.Genet Test Mol Biomarkers. 2009 Aug;13(4):527-31. doi: 10.1089/gtmb.2009.0030.
26	Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3.Am J Pathol. 2005 Jan;166(1):231-40. doi: 10.1016/S0002-9440(10)62247-X.
27	Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.Platelets. 2018 Jan;29(1):91-94. doi: 10.1080/09537104.2017.1361019. Epub 2017 Nov 1.
28	Treatment with Modified Heat Shock Protein Repigments Vitiligo Lesions in Sinclair Swine.J Invest Dermatol. 2018 Dec;138(12):2505-2506. doi: 10.1016/j.jid.2018.08.003.
29	Candida albicans quorum-sensing molecule farnesol modulates staphyloxanthin production and activates the thiol-based oxidative-stress response in Staphylococcus aureus.Virulence. 2019 Dec;10(1):625-642. doi: 10.1080/21505594.2019.1635418.
30	Cellular and clinical report of new Griscelli syndrome type III cases.Pigment Cell Melanoma Res. 2012 Jan;25(1):47-56. doi: 10.1111/j.1755-148X.2011.00901.x. Epub 2011 Oct 3.
31	Defective tetrahydrobiopterin and catecholamine biosynthesis in the depigmentation disorder vitiligo.Biochim Biophys Acta. 1994 May 25;1226(2):181-92. doi: 10.1016/0925-4439(94)90027-2.
32	The rat microphthalmia-associated transcription factor gene (Mitf) maps at 4q34-q41 and is mutated in the mib rats.Mamm Genome. 1998 Aug;9(8):617-21. doi: 10.1007/s003359900832.
33	Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2.Viral Immunol. 2011 Dec;24(6):471-3. doi: 10.1089/vim.2011.0034. Epub 2011 Nov 23.
34	Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets.Biochem Mol Med. 1997 Feb;60(1):27-37. doi: 10.1006/bmme.1996.2559.
35	Analysis of ocular hypopigmentation in Rab38cht/cht mice.Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3905-13. doi: 10.1167/iovs.06-1464.
36	Genetic immunization of mice with human tyrosinase-related protein 2: implications for the immunotherapy of melanoma.Int J Cancer. 2000 Apr 1;86(1):89-94. doi: 10.1002/(sici)1097-0215(20000401)86:1<89::aid-ijc14>3.0.co;2-i.
37	Epilation induces hair and skin pigmentation through an EDN3/EDNRB-dependent regenerative response of melanocyte stem cells.Sci Rep. 2017 Aug 4;7(1):7272. doi: 10.1038/s41598-017-07683-x.
38	Choroideremia: analysis of the retina from a female symptomatic carrier.Ophthalmic Genet. 2008 Sep;29(3):99-110. doi: 10.1080/13816810802206499.
39	Hypopigmentation associated with an adenovirus-mediated gp100/MART-1-transduced dendritic cell vaccine for metastatic melanoma.Arch Dermatol. 2002 Jun;138(6):799-802. doi: 10.1001/archderm.138.6.799.
40	BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation.Nucleic Acids Res. 2017 Jun 20;45(11):6442-6458. doi: 10.1093/nar/gkx259.
41	Teratogenicity and accumulation of triclosan in the early life stages of four food fish during the bioassay.Ecotoxicol Environ Saf. 2019 Jul 30;176:346-354. doi: 10.1016/j.ecoenv.2019.03.102. Epub 2019 Apr 4.
42	Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Am J Hum Genet. 2013 Jun 6;92(6):895-903. doi: 10.1016/j.ajhg.2013.04.022. Epub 2013 May 16.