MCID: ART009
MIFTS: 27

Artemis Deficiency malady

Category: Immune diseases

Aliases & Classifications for Artemis Deficiency

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Aliases & Descriptions for Artemis Deficiency:

Name: Artemis Deficiency 10 12

Classifications:



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Disease Ontology10 DOID:0060006

Summaries for Artemis Deficiency

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Disease Ontology:10 A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA.

MalaCards based summary: Artemis Deficiency is related to severe combined immunodeficiency due to dclre1c deficiency and omenn syndrome. An important gene associated with Artemis Deficiency is DCLRE1C (DNA Cross-Link Repair 1C), and among its related pathways are Primary immunodeficiency and DNA damage_NHEJ mechanisms of DSBs repair. Affiliated tissues include bone, liver and thyroid, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

Related Diseases for Artemis Deficiency

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Graphical network of the top 20 diseases related to Artemis Deficiency:



Diseases related to artemis deficiency

Symptoms for Artemis Deficiency

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Drugs & Therapeutics for Artemis Deficiency

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Intrauterine Insemination In HIV-Discordant CouplesTerminatedNCT01173276

Search NIH Clinical Center for Artemis Deficiency

Genetic Tests for Artemis Deficiency

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Anatomical Context for Artemis Deficiency

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MalaCards organs/tissues related to Artemis Deficiency:

33
Bone, Liver, Thyroid, Salivary gland

Animal Models for Artemis Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Artemis Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5ABL1, DCLRE1C, FOXP3, LIG4, PRKDC, RAG1
2MP:00053708.4ABL1, EPB41, FOXP3, LIG4, PRKDC, RAG1
3MP:00053818.2ABL1, EFNA5, FOXP3, LIG4, PRKDC, RAG1
4MP:00053977.4ABL1, DCLRE1C, EPB41, FOXP3, LIG4, PRKDC
5MP:00053767.2ABL1, EFNA5, EPB41, FOXP3, LIG4, PRKDC
6MP:00053877.1ABL1, DCLRE1C, EPB41, FOXP3, LIG4, PRKDC
7MP:00053847.0ABL1, DCLRE1C, EFNA5, FOXP3, LIG4, PRKDC

Publications for Artemis Deficiency

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Articles related to Artemis Deficiency:

(show all 11)
idTitleAuthorsYear
1
A Regulatory Network Involving I^-Catenin, e-Cadherin, PI3k/Akt, and Slug Balances Self-Renewal and Differentiation of Human Pluripotent Stem Cells In Response to Wnt Signaling. (25538040)
2015
2
A Crohn's disease variant in Atg16l1 enhances its degradation by caspase 3. (24553140)
2014
3
The extracellular chaperone haptoglobin prevents serum fatty acid-promoted amyloid fibril formation of I^2-microglobulin, resistance to lysosomal degradation, and cytotoxicity. (24078632)
2013
4
A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred. (19864664)
2009
5
Surgical therapy for testicular cancer metastatic to the liver. (18333222)
2007
6
Detection of multiresistance Aeromonas with TEM type resistant genes in patients with cirrhosis]. (16201471)
2005
7
Noninvasive monitoring of hemoglobin. The effects of WBC counts on measurement. (14750240)
2004
8
Decrease in gamma-actin expression, disruption of actin microfilaments and alterations in cell adhesion systems associated with acquisition of metastatic capacity in human salivary gland adenocarcinoma cell clones. (9538132)
1998
9
Bone mineral metabolism and thyroid replacement therapy in congenital hypothyroid infants and young children. (7560809)
1995
10
Uterine epithelial cell secretion of interleukin-1 alpha induces prostaglandin E2 (PGE2) and PGF2 alpha secretion by uterine stromal cells in vitro. (8419129)
1993
11
Effects of calcifediol treatment on the progression of renal osteodystrophy during continuous ambulatory peritoneal dialysis. (2079992)
1990

Variations for Artemis Deficiency

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Expression for genes affiliated with Artemis Deficiency

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Search GEO for disease gene expression data for Artemis Deficiency.

Pathways for genes affiliated with Artemis Deficiency

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GO Terms for genes affiliated with Artemis Deficiency

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Cellular components related to Artemis Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nonhomologous end joining complexGO:00704199.5DCLRE1C, LIG4, PRKDC

Biological processes related to Artemis Deficiency according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1pro-B cell differentiationGO:000232810.4LIG4, PRKDC
2immunoglobulin V(D)J recombinationGO:003315210.4LIG4, PRKDC
3B cell differentiationGO:003018310.4DCLRE1C, RAG1
4response to ionizing radiationGO:001021210.0LIG4, PRKDC
5DNA recombinationGO:000631010.0DCLRE1C, LIG4
6V(D)J recombinationGO:003315110.0DCLRE1C, LIG4, PRKDC
7response to gamma radiationGO:001033210.0LIG4, PRKDC
8thymus developmentGO:00485389.9ABL1, PRKDC
9negative regulation of cellular senescenceGO:20007739.9ABL1, PRKDC
10T cell homeostasisGO:00430299.8FOXP3, RAG1
11positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.8ABL1, EFNA5
12double-strand break repairGO:00063029.7ABL1, DCLRE1C, PRKDC
13adaptive immune responseGO:00022509.6DCLRE1C, RAG1, SH2D1A
14regulation of actin cytoskeleton organizationGO:00329569.6ABL1, EFNA5
15spleen developmentGO:00485369.4ABL1, PRKDC
16DNA repairGO:00062819.3ABL1, LIG4, PRKDC

Sources for Artemis Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet