MCID: CMB055
MIFTS: 15

Combined Immunodeficiency Due to Crac Channel Dysfunction

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Combined Immunodeficiency Due to Crac Channel Dysfunction

MalaCards integrated aliases for Combined Immunodeficiency Due to Crac Channel Dysfunction:

Name: Combined Immunodeficiency Due to Crac Channel Dysfunction 60
Immune Dysfunction Due to T-Cell Inactivation Due to Calcium Entry Defect 60

Characteristics:

Orphanet epidemiological data:

60
combined immunodeficiency due to crac channel dysfunction
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 60  
Rare immunological diseases


Summaries for Combined Immunodeficiency Due to Crac Channel Dysfunction

MalaCards based summary : Combined Immunodeficiency Due to Crac Channel Dysfunction, also known as immune dysfunction due to t-cell inactivation due to calcium entry defect, is related to immunodeficiency 9. Affiliated tissues include t cells, and related phenotypes are muscular hypotonia and chronic otitis media

Related Diseases for Combined Immunodeficiency Due to Crac Channel Dysfunction

Diseases related to Combined Immunodeficiency Due to Crac Channel Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 9 11.7

Symptoms & Phenotypes for Combined Immunodeficiency Due to Crac Channel Dysfunction

Human phenotypes related to Combined Immunodeficiency Due to Crac Channel Dysfunction:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 chronic otitis media 60 33 hallmark (90%) Very frequent (99-80%) HP:0000389
3 fever 60 33 hallmark (90%) Very frequent (99-80%) HP:0001945
4 myopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003198
5 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
6 autoimmunity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002960
7 hypoplasia of the iris 60 33 hallmark (90%) Very frequent (99-80%) HP:0007676
8 meningitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001287
9 sepsis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100806
10 recurrent viral infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0004429
11 amelogenesis imperfecta 60 33 hallmark (90%) Very frequent (99-80%) HP:0000705
12 pneumonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002090
13 recurrent fungal infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002841
14 hypocalcification of dental enamel 60 33 hallmark (90%) Very frequent (99-80%) HP:0011084
15 recurrent mycobacterial infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0011274
16 splenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001744
17 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
18 lymphadenopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002716
19 anhidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000970
20 hemolytic anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001878
21 neoplasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0002664
22 thrombocytopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001873
23 recurrent bacterial infections 60 Very frequent (99-80%)

Drugs & Therapeutics for Combined Immunodeficiency Due to Crac Channel Dysfunction

Search Clinical Trials , NIH Clinical Center for Combined Immunodeficiency Due to Crac Channel Dysfunction

Genetic Tests for Combined Immunodeficiency Due to Crac Channel Dysfunction

Anatomical Context for Combined Immunodeficiency Due to Crac Channel Dysfunction

MalaCards organs/tissues related to Combined Immunodeficiency Due to Crac Channel Dysfunction:

42
T Cells

Publications for Combined Immunodeficiency Due to Crac Channel Dysfunction

Variations for Combined Immunodeficiency Due to Crac Channel Dysfunction

Expression for Combined Immunodeficiency Due to Crac Channel Dysfunction

Search GEO for disease gene expression data for Combined Immunodeficiency Due to Crac Channel Dysfunction.

Pathways for Combined Immunodeficiency Due to Crac Channel Dysfunction

GO Terms for Combined Immunodeficiency Due to Crac Channel Dysfunction

Sources for Combined Immunodeficiency Due to Crac Channel Dysfunction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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