Details of Disease

General Information of Disease (ID: DISGTTEP)

• Disease Name: Dowling-Degos disease
• Synonyms: DDD1; Dowling-Degos disease 1; Dowling-Degos Kitamura disease; dark dot disease; Dowling-Degos disease type 1; reticular pigment anomaly of flexures
• Definition: A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
• Disease Hierarchy:
  DISTBQZF: Disorder of fucoglycosan synthesis
  DISQ205R: Hyperpigmentation of the skin
  DISVVE15: Reticulate pigment disorder
  DISGTTEP: Dowling-Degos disease
• Disease Identifiers:
  MONDO ID: MONDO_0008371
  MESH ID: C562924
  UMLS CUI: C3714534
  MedGen ID: 811363
  Orphanet ID: 79145

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADAM10	TTVXEGU	Strong	Genetic Variation	[1]
CFH	TTUW6OP	Strong	Altered Expression	[2]
PTH1R	TTFPD47	Strong	Biomarker	[3]
SERPINA6	TTJL8VG	Strong	Biomarker	[4]
TYRP1	TTFRV98	Strong	Biomarker	[5]

This Disease Is Related to 18 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACAN	OTUOCW8K	Limited	Biomarker	[6]
DCT	OTYVNTBG	Limited	Biomarker	[7]
RANBP2	OTFG5CVF	Limited	Biomarker	[7]
KRT5	OTVGI9HT	Supportive	Autosomal dominant	[8]
POFUT1	OTOBJZIT	Supportive	Autosomal dominant	[9]
POGLUT1	OTDX7GZD	Supportive	Autosomal dominant	[10]
PSENEN	OTJ7M7G9	Supportive	Autosomal dominant	[11]
CFHR5	OT7BMOYE	Strong	Genetic Variation	[12]
COL9A2	OT1ZBDBV	Strong	Genetic Variation	[7]
COL9A3	OTCUJOEK	Strong	Genetic Variation	[7]
DDT	OTF5HTYL	Strong	Biomarker	[13]
DDTL	OTG1LU87	Strong	Genetic Variation	[13]
EGR3	OTGPJIRA	Strong	Genetic Variation	[14]
LZTR1	OTIDM6XO	Strong	Genetic Variation	[15]
SMC1A	OT9ZMRK9	Strong	Genetic Variation	[16]
SPTBN2	OTDMJ75N	Strong	Genetic Variation	[17]
SYNGAP1	OT41HVYQ	Strong	Genetic Variation	[18]
TBPL1	OT4I143E	Strong	Biomarker	[5]

References

• [1] Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. Hum Mol Genet. 2013 Sep 1;22(17):3524-33. doi: 10.1093/hmg/ddt207. Epub 2013 May 10.
• [2] New insights into disease-specific absence of complement factor H related protein C in mouse models of spontaneous autoimmune diseases.Mol Immunol. 2014 Nov;62(1):235-48. doi: 10.1016/j.molimm.2014.06.028. Epub 2014 Jul 15.
• [3] Ciliary parathyroid hormone signaling activates transforming growth factor- to maintain intervertebral disc homeostasis during aging.Bone Res. 2018 Jul 18;6:21. doi: 10.1038/s41413-018-0022-y. eCollection 2018.
• [4] Mitotane has an estrogenic effect on sex hormone-binding globulin and corticosteroid-binding globulin in humans. J Clin Endocrinol Metab. 2006 Jun;91(6):2165-70. doi: 10.1210/jc.2005-2157. Epub 2006 Mar 21.
• [5] Inflammaging in cervical and lumbar degenerated intervertebral discs: analysis of proinflammatory cytokine and TRP channel expression.Eur Spine J. 2018 Mar;27(3):564-577. doi: 10.1007/s00586-017-5360-8. Epub 2017 Dec 4.
• [6] A systematic review of the relationship between the distributions of aggrecan gene VNTR polymorphism and degenerative disc disease/osteoarthritis.Bone Joint Res. 2018 May 5;7(4):308-317. doi: 10.1302/2046-3758.74.BJR-2017-0207.R1. eCollection 2018 Apr.
• [7] MRI Phenotyping of COL9A2/Trp2 and COL9A3/Trp3 Alleles in Lumbar Disc Disease: A Case-control Study in South-Western Iranian Population Reveals a Significant Trp3-Disease Association in Males.Spine (Phila Pa 1976). 2016 Nov 1;41(21):1661-1667. doi: 10.1097/BRS.0000000000001617.
• [8] Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet. 2006 Mar;78(3):510-9. doi: 10.1086/500850. Epub 2006 Jan 19.
• [9] 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.
• [10] Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet. 2014 Jan 2;94(1):135-43. doi: 10.1016/j.ajhg.2013.12.003.
• [11] Mutations in -secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. J Clin Invest. 2017 Apr 3;127(4):1485-1490. doi: 10.1172/JCI90667. Epub 2017 Mar 13.
• [12] Complement factor H related proteins (CFHRs). Mol Immunol. 2013 Dec 15;56(3):170-80. doi: 10.1016/j.molimm.2013.06.001. Epub 2013 Jul 3.
• [13] Associations between DDT and egg parameters of the House Sparrow Passer domesticus from the Thohoyandou area of South Africa.Chemosphere. 2018 May;198:249-256. doi: 10.1016/j.chemosphere.2018.01.125. Epub 2018 Feb 6.
• [14] Polymorphic variation of the guanosine triphosphate cyclohydrolase 1 gene predicts outcome in patients undergoing surgical treatment for lumbar degenerative disc disease.Spine (Phila Pa 1976). 2010 Oct 1;35(21):1909-14. doi: 10.1097/BRS.0b013e3181eea007.
• [15] Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.Clin Genet. 2019 Jun;95(6):693-703. doi: 10.1111/cge.13533. Epub 2019 Apr 3.
• [16] Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia. 2017 Apr;58(4):565-575. doi: 10.1111/epi.13669. Epub 2017 Feb 6.
• [17] Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.Am J Hum Genet. 2019 Nov 7;105(5):933-946. doi: 10.1016/j.ajhg.2019.09.015. Epub 2019 Oct 10.
• [18] De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.Am J Med Genet A. 2015 Oct;167A(10):2231-7. doi: 10.1002/ajmg.a.37189. Epub 2015 Jun 15.