IMD26
MCID: IMM234
MIFTS: 14

Immunodeficiency 26 (IMD26)

Categories: Genetic diseases, Immune diseases, Neuronal diseases

Aliases & Classifications for Immunodeficiency 26

MalaCards integrated aliases for Immunodeficiency 26:

Name: Immunodeficiency 26 12 15
Immunodeficiency 26, with or Without Neurologic Abnormalities 12
Severe Combined Immunodeficiency Due to Dna-Pkcs Deficiency 12
Scid Due to Dna-Pkcs Deficiency 12
Imd26 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111961
UMLS 70 C4014833

Summaries for Immunodeficiency 26

Disease Ontology : 12 A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has material basis in homozygous or compound heterozygous mutation in PRKDC on chromosome 8q11.21.

MalaCards based summary : Immunodeficiency 26, also known as immunodeficiency 26, with or without neurologic abnormalities, is related to immunodeficiency 26 with or without neurologic abnormalities. An important gene associated with Immunodeficiency 26 is PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit), and among its related pathways/superpathways is DREAM Repression and Dynorphin Expression. Affiliated tissues include t cells, nk cells and fetal liver, and related phenotype is hearing/vestibular/ear.

Wikipedia : 73 Immunodeficiency 26 is a rare genetic syndrome. It is characterised by absent circulating B and T cells... more...

Related Diseases for Immunodeficiency 26

Diseases related to Immunodeficiency 26 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 26 with or without neurologic abnormalities 11.6

Symptoms & Phenotypes for Immunodeficiency 26

MGI Mouse Phenotypes related to Immunodeficiency 26:

46 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 DMD PRKDC

Drugs & Therapeutics for Immunodeficiency 26

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 26

Genetic Tests for Immunodeficiency 26

Anatomical Context for Immunodeficiency 26

MalaCards organs/tissues related to Immunodeficiency 26:

40
T Cells, Nk Cells, Fetal Liver

Publications for Immunodeficiency 26

Articles related to Immunodeficiency 26:

(showing 1, show less)
# Title Authors PMID Year
1
The place of fetal liver transplantation in the treatment of inborn errors of metabolism. 61
1749226 1991

Variations for Immunodeficiency 26

Expression for Immunodeficiency 26

Search GEO for disease gene expression data for Immunodeficiency 26.

Pathways for Immunodeficiency 26

Pathways related to Immunodeficiency 26 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.22 PRKDC DMD

GO Terms for Immunodeficiency 26

Cellular components related to Immunodeficiency 26 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 8.62 PRKDC DMD

Sources for Immunodeficiency 26

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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