MCID: IMM085
MIFTS: 15

Immunodeficiency 25

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 25

MalaCards integrated aliases for Immunodeficiency 25:

Name: Immunodeficiency 25 57 75
Immunodeficiency Due to Defect in Cd3-Zeta 57 75 29 13 6 40 73
Imd25 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one patient has been reported (last curated june 2016)


HPO:

32
immunodeficiency 25:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 610163
MedGen 42 C1857798
MeSH 44 D007153
SNOMED-CT via HPO 69 258211005 234532001 236077008
UMLS 73 C1857798

Summaries for Immunodeficiency 25

UniProtKB/Swiss-Prot : 75 Immunodeficiency 25: An immunological deficiency characterized by T-cells impaired immune response to alloantigens, tetanus toxoid and mitogens.

MalaCards based summary : Immunodeficiency 25, is also known as immunodeficiency due to defect in cd3-zeta. An important gene associated with Immunodeficiency 25 is CD247 (CD247 Molecule). Affiliated tissues include t cells, and related phenotypes are eosinophilia and immunodeficiency

Description from OMIM: 610163

Related Diseases for Immunodeficiency 25

Symptoms & Phenotypes for Immunodeficiency 25

Symptoms via clinical synopsis from OMIM:

57
Immunology:
recurrent infections
viral infections
fungal infections
bacterial infections
low number of t cells
more

Clinical features from OMIM:

610163

Human phenotypes related to Immunodeficiency 25:

32
# Description HPO Frequency HPO Source Accession
1 eosinophilia 32 HP:0001880
2 immunodeficiency 32 HP:0002721
3 protracted diarrhea 32 HP:0004385
4 susceptibility to herpesvirus 32 HP:0005353
5 decrease in t cell count 32 HP:0005403

Drugs & Therapeutics for Immunodeficiency 25

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 25

Genetic Tests for Immunodeficiency 25

Genetic tests related to Immunodeficiency 25:

# Genetic test Affiliating Genes
1 Immunodeficiency Due to Defect in Cd3-Zeta 29 CD247

Anatomical Context for Immunodeficiency 25

MalaCards organs/tissues related to Immunodeficiency 25:

41
T Cells

Publications for Immunodeficiency 25

Variations for Immunodeficiency 25

ClinVar genetic disease variations for Immunodeficiency 25:

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD247 NM_198053.2(CD247): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs74315290 GRCh37 Chromosome 1, 167408592: 167408592
2 CD247 NM_198053.2(CD247): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs74315290 GRCh38 Chromosome 1, 167439355: 167439355
3 CD247 NM_198053.2(CD247): c.208_209delCAinsTG (p.Gln70Trp) indel Pathogenic rs193922739 GRCh37 Chromosome 1, 167408591: 167408592
4 CD247 NM_198053.2(CD247): c.208_209delCAinsTG (p.Gln70Trp) indel Pathogenic rs193922739 GRCh38 Chromosome 1, 167439354: 167439355
5 CD247 NM_198053.2(CD247): c.209A> T (p.Gln70Leu) single nucleotide variant Pathogenic rs193922740 GRCh37 Chromosome 1, 167408591: 167408591
6 CD247 NM_198053.2(CD247): c.209A> T (p.Gln70Leu) single nucleotide variant Pathogenic rs193922740 GRCh38 Chromosome 1, 167439354: 167439354
7 CD247 NM_198053.2(CD247): c.208_210delCAGinsTAT (p.Gln70Tyr) indel Pathogenic rs193922741 GRCh37 Chromosome 1, 167408590: 167408592
8 CD247 NM_198053.2(CD247): c.208_210delCAGinsTAT (p.Gln70Tyr) indel Pathogenic rs193922741 GRCh38 Chromosome 1, 167439353: 167439355
9 CD247 NM_000734.3(CD247): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs672601318 GRCh38 Chromosome 1, 167518464: 167518464
10 CD247 NM_000734.3(CD247): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs672601318 GRCh37 Chromosome 1, 167487701: 167487701
11 CD247 NM_198053.2(CD247): c.246G> A (p.Glu82=) single nucleotide variant Benign rs34940956 GRCh37 Chromosome 1, 167407861: 167407861
12 CD247 NM_198053.2(CD247): c.427C> T (p.Gln143Ter) single nucleotide variant Uncertain significance rs759213998 GRCh37 Chromosome 1, 167402263: 167402263
13 CD247 NM_198053.2(CD247): c.427C> T (p.Gln143Ter) single nucleotide variant Uncertain significance rs759213998 GRCh38 Chromosome 1, 167433026: 167433026
14 CD247 NM_198053.2(CD247): c.249C> T (p.Tyr83=) single nucleotide variant Benign rs33937946 GRCh37 Chromosome 1, 167407858: 167407858
15 CD247 NM_198053.2(CD247): c.249C> T (p.Tyr83=) single nucleotide variant Benign rs33937946 GRCh38 Chromosome 1, 167438621: 167438621
16 CD247 NM_198053.2(CD247): c.246G> A (p.Glu82=) single nucleotide variant Benign rs34940956 GRCh38 Chromosome 1, 167438624: 167438624
17 CD247 NM_198053.2(CD247): c.39G> A (p.Gln13=) single nucleotide variant Likely benign rs760945719 GRCh37 Chromosome 1, 167487664: 167487664
18 CD247 NM_198053.2(CD247): c.39G> A (p.Gln13=) single nucleotide variant Likely benign rs760945719 GRCh38 Chromosome 1, 167518427: 167518427
19 CD247 NM_198053.2(CD247): c.27G> A (p.Ala9=) single nucleotide variant Uncertain significance rs757294201 GRCh37 Chromosome 1, 167487676: 167487676
20 CD247 NM_198053.2(CD247): c.27G> A (p.Ala9=) single nucleotide variant Uncertain significance rs757294201 GRCh38 Chromosome 1, 167518439: 167518439
21 CD247 NM_198053.2(CD247): c.300+8T> A single nucleotide variant Benign rs56199250 GRCh37 Chromosome 1, 167407799: 167407799
22 CD247 NM_198053.2(CD247): c.300+8T> A single nucleotide variant Benign rs56199250 GRCh38 Chromosome 1, 167438562: 167438562
23 CD247 NM_198053.2(CD247): c.177A> G (p.Ala59=) single nucleotide variant Benign rs373031213 GRCh38 Chromosome 1, 167439386: 167439386
24 CD247 NM_198053.2(CD247): c.177A> G (p.Ala59=) single nucleotide variant Benign rs373031213 GRCh37 Chromosome 1, 167408623: 167408623
25 CD247 NM_198053.2(CD247): c.411G> C (p.Gly137=) single nucleotide variant Likely benign rs148298128 GRCh38 Chromosome 1, 167433042: 167433042
26 CD247 NM_198053.2(CD247): c.294A> G (p.Gly98=) single nucleotide variant Likely benign GRCh38 Chromosome 1, 167438576: 167438576
27 CD247 NM_198053.2(CD247): c.294A> G (p.Gly98=) single nucleotide variant Likely benign GRCh37 Chromosome 1, 167407813: 167407813
28 CD247 NM_198053.2(CD247): c.411G> C (p.Gly137=) single nucleotide variant Likely benign rs148298128 GRCh37 Chromosome 1, 167402279: 167402279
29 CD247 NM_198053.2(CD247): c.51dup (p.Ile18Aspfs) duplication Pathogenic GRCh37 Chromosome 1, 167487652: 167487652
30 CD247 NM_198053.2(CD247): c.51dup (p.Ile18Aspfs) duplication Pathogenic GRCh38 Chromosome 1, 167518415: 167518415
31 CD247 NM_198053.2(CD247): c.15G> A (p.Ala5=) single nucleotide variant Likely benign rs746701386 GRCh37 Chromosome 1, 167487688: 167487688
32 CD247 NM_198053.2(CD247): c.15G> A (p.Ala5=) single nucleotide variant Likely benign rs746701386 GRCh38 Chromosome 1, 167518451: 167518451
33 CD247 NM_198053.2(CD247): c.462C> T (p.Asp154=) single nucleotide variant Likely benign rs181656780 GRCh37 Chromosome 1, 167400951: 167400951
34 CD247 NM_198053.2(CD247): c.462C> T (p.Asp154=) single nucleotide variant Likely benign rs181656780 GRCh38 Chromosome 1, 167431714: 167431714

Expression for Immunodeficiency 25

Search GEO for disease gene expression data for Immunodeficiency 25.

Pathways for Immunodeficiency 25

GO Terms for Immunodeficiency 25

Sources for Immunodeficiency 25

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
Content
Loading form....