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 59
Immune Dysfunction Due to T-Cell Inactivation Due to Calcium Entry Defect 59

Characteristics:

Orphanet epidemiological data:

59
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: 59  
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:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
3 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
4 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
5 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
6 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
7 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
8 hemolytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001878
9 neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0002664
10 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
11 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
12 hypoplasia of the iris 59 32 hallmark (90%) Very frequent (99-80%) HP:0007676
13 meningitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001287
14 sepsis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100806
15 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
16 recurrent viral infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0004429
17 amelogenesis imperfecta 59 32 hallmark (90%) Very frequent (99-80%) HP:0000705
18 pneumonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002090
19 recurrent fungal infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002841
20 hypocalcification of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0011084
21 recurrent mycobacterial infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0011274
22 anhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000970
23 recurrent bacterial infections 59 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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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