Details of Disease

General Information of Disease (ID: DIS1UHPY)

• Disease Name: Vasculitis due to ADA2 deficiency
• Synonyms: PAN; adenosine deaminase 2 deficiency; vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome; polyarteritis nodosa, childhood-onset; vasculitis due to DADA2; childhood-onset polyarteritis nodosa; ADA2 deficiency; DADA2
• Definition: Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.
• Disease Hierarchy:
  DISRVYPK: Deficiency of adenosine deaminase 2
  DISQRKDX: Vasculitis
  DIS1UHPY: Vasculitis due to ADA2 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0014306
  UMLS CUI: C3887654
  OMIM ID: 615688
  MedGen ID: 854497
  Orphanet ID: 404553

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BLK	TTNDSC3	Strong	Biomarker	[1]
CLDN18	TT6PKBX	Strong	Genetic Variation	[2]
ERAP2	TTVGS1C	Strong	Genetic Variation	[3]

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADA2	OTGCV24S	Strong	Autosomal recessive	[4]
ADGRG1	OTQBB8NT	Strong	Biomarker	[5]
CHMP3	OT0963JJ	Strong	Altered Expression	[6]
CIP2A	OTVS2GXA	Strong	Altered Expression	[7]
CRTAC1	OT4PGEVE	Strong	Biomarker	[8]
DSG4	OTWIQDC4	Strong	Biomarker	[9]
ENTPD5	OTFH05B9	Strong	Genetic Variation	[10]
HHLA2	OTYBTVQS	Strong	Biomarker	[11]
POTED	OTAUSTUK	Strong	Altered Expression	[12]
PRMT2	OT63JZCI	Strong	Biomarker	[13]
PRPF8	OTU39JZI	Strong	Biomarker	[14]
RAD52	OT0OTDHI	Strong	Altered Expression	[15]
SLFN11	OTJWFPMY	Strong	Biomarker	[16]
TREH	OTJE0NOY	Strong	Altered Expression	[17]

References

• [1] Genetics of vasculitis.Curr Opin Rheumatol. 2015 Jan;27(1):10-7. doi: 10.1097/BOR.0000000000000124.
• [2] Claudin-18 splice variant 2 is a pan-cancer target suitable for therapeutic antibody development.Clin Cancer Res. 2008 Dec 1;14(23):7624-34. doi: 10.1158/1078-0432.CCR-08-1547.
• [3] Germline genetic polymorphisms influence tumor gene expression and immune cell infiltration.Proc Natl Acad Sci U S A. 2018 Dec 11;115(50):E11701-E11710. doi: 10.1073/pnas.1804506115. Epub 2018 Nov 21.
• [4] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [5] GPR56/ADGRG1 Inhibits Mesenchymal Differentiation and Radioresistance in Glioblastoma.Cell Rep. 2017 Nov 21;21(8):2183-2197. doi: 10.1016/j.celrep.2017.10.083.
• [6] miR-122-5p promotes aggression and epithelial-mesenchymal transition in triple-negative breast cancer by suppressing charged multivesicular body protein 3 through mitogen-activated protein kinase signaling.J Cell Physiol. 2020 Mar;235(3):2825-2835. doi: 10.1002/jcp.29188. Epub 2019 Sep 20.
• [7] Inhibition of CIP2A attenuates tumor progression by inducing cell cycle arrest and promoting cellular senescence in hepatocellular carcinoma.Biochem Biophys Res Commun. 2018 Jan 8;495(2):1807-1814. doi: 10.1016/j.bbrc.2017.11.124. Epub 2017 Nov 21.
• [8] LOTUS: A single- and multitask machine learning algorithm for the prediction of cancer driver genes.PLoS Comput Biol. 2019 Sep 30;15(9):e1007381. doi: 10.1371/journal.pcbi.1007381. eCollection 2019 Sep.
• [9] ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.Am J Med Genet A. 2019 Dec;179(12):2474-2480. doi: 10.1002/ajmg.a.61363. Epub 2019 Oct 4.
• [10] Mutant p53 promotes tumor progression and metastasis by the endoplasmic reticulum UDPase ENTPD5.Proc Natl Acad Sci U S A. 2016 Dec 27;113(52):E8433-E8442. doi: 10.1073/pnas.1612711114. Epub 2016 Dec 12.
• [11] Prognostic Significance of Potential Immune Checkpoint Member HHLA2 in Human Tumors: A Comprehensive Analysis.Front Immunol. 2019 Jul 15;10:1573. doi: 10.3389/fimmu.2019.01573. eCollection 2019.
• [12] Expression of the POTE gene family in human ovarian cancer.Sci Rep. 2018 Nov 20;8(1):17136. doi: 10.1038/s41598-018-35567-1.
• [13] PRMT2 and ROR expression are associated with breast cancer survival outcomes.Mol Endocrinol. 2014 Jul;28(7):1166-85. doi: 10.1210/me.2013-1403. Epub 2014 Jun 9.
• [14] Mutational landscape of RNA-binding proteins in human cancers.RNA Biol. 2018 Jan 2;15(1):115-129. doi: 10.1080/15476286.2017.1391436. Epub 2017 Nov 14.
• [15] Human somatic cells deficient for RAD52 are impaired for viral integration and compromised for most aspects of homology-directed repair.DNA Repair (Amst). 2017 Jul;55:64-75. doi: 10.1016/j.dnarep.2017.04.006. Epub 2017 May 10.
• [16] Integrated pan-cancer gene expression and drug sensitivity analysis reveals SLFN11 mRNA as a solid tumor biomarker predictive of sensitivity to DNA-damaging chemotherapy.PLoS One. 2019 Nov 4;14(11):e0224267. doi: 10.1371/journal.pone.0224267. eCollection 2019.
• [17] Induction of podocyte-derived VEGF ameliorates podocyte injury and subsequent abnormal glomerular development caused by puromycin aminonucleoside.Pediatr Res. 2011 Jul;70(1):83-9. doi: 10.1203/PDR.0b013e31821bdf1c.