Details of Disease | DrugMAP

General Information of Disease (ID: DISR6ZSG)

Disease Name	Capillary malformation
Synonyms	rare capillary malformation; congenital malformation of capillary
Disease Hierarchy	DISVS67S: Vascular disease DISR6ZSG: Capillary malformation
Disease Identifiers	MONDO ID MONDO_0016231 MESH ID C562760 UMLS CUI C0340803 OMIM ID 163000 MedGen ID 90955 HPO ID HP:0025104 Orphanet ID 211247 SNOMED CT ID 234118009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GNA11	TTSRXJW	Limited	Genetic Variation	[1]
IL17F	TT2B6PS	Strong	Biomarker	[2]
MAG	TT9XFON	Strong	Biomarker	[3]
RASA1	TTPNZ1F	Strong	Biomarker	[4]
STAT1	TTN7R6K	Strong	Genetic Variation	[5]
ZUP1	TTZC0KV	Strong	Biomarker	[6]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KLRB1	OTQ2959Y	Limited	Biomarker	[7]
MCF2L	OTEURA8N	Limited	Biomarker	[8]
NUDT11	OTFDXJA1	Limited	Biomarker	[9]
CMC1	OTCWYKPI	Strong	Genetic Variation	[10]
IL12RB1	OTM1IJO2	Strong	Biomarker	[9]
IL17RA	OTVVI8ER	Strong	Genetic Variation	[11]
IL17RC	OTEFOBSS	Strong	Biomarker	[12]
TRAF3IP2	OTLLZERL	Strong	Genetic Variation	[13]
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⏷ Show the Full List of 8 DOT(s)

References

1	A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.Angiogenesis. 2017 Aug;20(3):303-306. doi: 10.1007/s10456-016-9538-1. Epub 2017 Jan 24.
2	Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1.Front Immunol. 2017 Sep 1;8:1074. doi: 10.3389/fimmu.2017.01074. eCollection 2017.
3	Infantile Hemangioma with Minimal or Arrested Growth: Further Observations on Clinical and Histopathologic Findings of this Unique but Underrecognized Entity.Pediatr Dermatol. 2017 Jan;34(1):64-71. doi: 10.1111/pde.13022. Epub 2016 Nov 22.
4	Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?.Genet Med. 2019 Sep;21(9):2007-2014. doi: 10.1038/s41436-019-0443-z. Epub 2019 Feb 14.
5	STAT1 gain-of-function and chronic demodicosis.Pediatr Dermatol. 2020 Jan;37(1):153-155. doi: 10.1111/pde.14011. Epub 2019 Oct 21.
6	Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet. 2013 May;45(5):556-62. doi: 10.1038/ng.2602. Epub 2013 Mar 31.
7	Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility.Clin Exp Immunol. 2016 May;184(2):216-27. doi: 10.1111/cei.12746. Epub 2016 Feb 9.
8	Subthalamic deep brain stimulation and trunk posture in Parkinson's disease.Acta Neurol Scand. 2018 May;137(5):481-487. doi: 10.1111/ane.12889. Epub 2017 Dec 29.
9	The Evolving View of IL-17-Mediated Immunity in Defense Against Mucocutaneous Candidiasis in Humans.Int Rev Immunol. 2015;34(4):348-63. doi: 10.3109/08830185.2015.1049345.
10	Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet. 2003 Dec;73(6):1240-9. doi: 10.1086/379793. Epub 2003 Nov 24.
11	Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.Proc Natl Acad Sci U S A. 2016 Dec 20;113(51):E8277-E8285. doi: 10.1073/pnas.1618300114. Epub 2016 Dec 7.
12	Chronic mucocutaneous candidiasis: what can we conclude about IL-17 antagonism?.J Dermatolog Treat. 2018 Aug;29(5):475-480. doi: 10.1080/09546634.2017.1398396. Epub 2017 Nov 21.
13	Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2.J Clin Immunol. 2019 Aug;39(6):596-599. doi: 10.1007/s10875-019-00664-x. Epub 2019 Jul 10.