MCID: IMM123
MIFTS: 13

Immunodeficiency 39

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 39

MalaCards integrated aliases for Immunodeficiency 39:

Name: Immunodeficiency 39 57 75 29 6
Imd39 57 75
Immunodeficiency, Type 39 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one patient has been reported (last curated may 2015)


HPO:

32
immunodeficiency 39:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616345
MeSH 44 D007153
SNOMED-CT via HPO 69 258211005 234532001

Summaries for Immunodeficiency 39

UniProtKB/Swiss-Prot : 75 Immunodeficiency 39: A primary immunodeficiency causing severe, life-threatening acute respiratory distress upon infection with H1N1 influenza A.

MalaCards based summary : Immunodeficiency 39, is also known as imd39. An important gene associated with Immunodeficiency 39 is IRF7 (Interferon Regulatory Factor 7). Related phenotype is immunodeficiency.

Description from OMIM: 616345

Related Diseases for Immunodeficiency 39

Symptoms & Phenotypes for Immunodeficiency 39

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
acute respiratory distress syndrome associated with influenza a infection

Immunology:
susceptibility to infection with influenza a infection


Clinical features from OMIM:

616345

Human phenotypes related to Immunodeficiency 39:

32
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721

Drugs & Therapeutics for Immunodeficiency 39

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 39

Genetic Tests for Immunodeficiency 39

Genetic tests related to Immunodeficiency 39:

# Genetic test Affiliating Genes
1 Immunodeficiency 39 29 IRF7

Anatomical Context for Immunodeficiency 39

Publications for Immunodeficiency 39

Variations for Immunodeficiency 39

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 39:

75
# Symbol AA change Variation ID SNP ID
1 IRF7 p.Phe410Val VAR_073779 rs786205223

ClinVar genetic disease variations for Immunodeficiency 39:

6
(show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF7 NM_001572.3(IRF7): c.1228T> G (p.Phe410Val) single nucleotide variant Pathogenic rs786205223 GRCh38 Chromosome 11, 613215: 613215
2 IRF7 NM_001572.3(IRF7): c.1228T> G (p.Phe410Val) single nucleotide variant Pathogenic rs786205223 GRCh37 Chromosome 11, 613215: 613215
3 IRF7 NM_001572.3(IRF7): c.1261C> T (p.Gln421Ter) single nucleotide variant Pathogenic rs375323253 GRCh38 Chromosome 11, 613094: 613094
4 IRF7 NM_001572.3(IRF7): c.1261C> T (p.Gln421Ter) single nucleotide variant Pathogenic rs375323253 GRCh37 Chromosome 11, 613094: 613094
5 IRF7 NM_004031.2(IRF7): c.223-4_223-3delTCinsAA indel Benign rs386749598 GRCh37 Chromosome 11, 615010: 615011
6 IRF7 NM_004031.2(IRF7): c.223-4_223-3delTCinsAA indel Benign rs386749598 GRCh38 Chromosome 11, 615010: 615011
7 IRF7 NM_004031.2(IRF7): c.1307G> C (p.Arg436Pro) single nucleotide variant Uncertain significance rs149039709 GRCh37 Chromosome 11, 613087: 613087
8 IRF7 NM_004031.2(IRF7): c.1307G> C (p.Arg436Pro) single nucleotide variant Uncertain significance rs149039709 GRCh38 Chromosome 11, 613087: 613087
9 IRF7 NM_004031.2(IRF7): c.699G> A (p.Leu233=) single nucleotide variant Benign rs76107421 GRCh37 Chromosome 11, 614193: 614193
10 IRF7 NM_004031.2(IRF7): c.699G> A (p.Leu233=) single nucleotide variant Benign rs76107421 GRCh38 Chromosome 11, 614193: 614193
11 IRF7 NM_004031.2(IRF7): c.899G> C (p.Gly300Ala) single nucleotide variant Uncertain significance rs763456786 GRCh38 Chromosome 11, 613583: 613583
12 IRF7 NM_004031.2(IRF7): c.899G> C (p.Gly300Ala) single nucleotide variant Uncertain significance rs763456786 GRCh37 Chromosome 11, 613583: 613583
13 IRF7 NM_004031.2(IRF7): c.886+4delA deletion Uncertain significance GRCh38 Chromosome 11, 613781: 613781
14 IRF7 NM_004031.2(IRF7): c.886+4delA deletion Uncertain significance GRCh37 Chromosome 11, 613781: 613781
15 IRF7 NM_004031.2(IRF7): c.790G> C (p.Ala264Pro) single nucleotide variant Uncertain significance rs888494437 GRCh38 Chromosome 11, 613966: 613966
16 IRF7 NM_004031.2(IRF7): c.790G> C (p.Ala264Pro) single nucleotide variant Uncertain significance rs888494437 GRCh37 Chromosome 11, 613966: 613966
17 IRF7 NM_004031.2(IRF7): c.649G> A (p.Asp217Asn) single nucleotide variant Likely benign rs41313489 GRCh38 Chromosome 11, 614243: 614243
18 IRF7 NM_004031.2(IRF7): c.649G> A (p.Asp217Asn) single nucleotide variant Likely benign rs41313489 GRCh37 Chromosome 11, 614243: 614243
19 IRF7 NM_004031.2(IRF7): c.1426G> A (p.Glu476Lys) single nucleotide variant Uncertain significance rs375003348 GRCh37 Chromosome 11, 612770: 612770
20 IRF7 NM_004031.2(IRF7): c.1426G> A (p.Glu476Lys) single nucleotide variant Uncertain significance rs375003348 GRCh38 Chromosome 11, 612770: 612770
21 IRF7 NM_004031.2(IRF7): c.1185A> G (p.Gly395=) single nucleotide variant Likely benign rs1061505 GRCh37 Chromosome 11, 613297: 613297
22 IRF7 NM_004031.2(IRF7): c.1185A> G (p.Gly395=) single nucleotide variant Likely benign rs1061505 GRCh38 Chromosome 11, 613297: 613297
23 IRF7 NM_004031.2(IRF7): c.908A> G (p.Asp303Gly) single nucleotide variant Uncertain significance rs368953537 GRCh37 Chromosome 11, 613574: 613574
24 IRF7 NM_004031.2(IRF7): c.908A> G (p.Asp303Gly) single nucleotide variant Uncertain significance rs368953537 GRCh38 Chromosome 11, 613574: 613574
25 IRF7 NM_004031.2(IRF7): c.668C> T (p.Ala223Val) single nucleotide variant Uncertain significance rs202174691 GRCh37 Chromosome 11, 614224: 614224
26 IRF7 NM_004031.2(IRF7): c.668C> T (p.Ala223Val) single nucleotide variant Uncertain significance rs202174691 GRCh38 Chromosome 11, 614224: 614224
27 IRF7 NM_004031.2(IRF7): c.222+9C> A single nucleotide variant Likely benign GRCh37 Chromosome 11, 615088: 615088
28 IRF7 NM_004031.2(IRF7): c.222+9C> A single nucleotide variant Likely benign GRCh38 Chromosome 11, 615088: 615088
29 IRF7 NM_004031.2(IRF7): c.1038C> T (p.Ser346=) single nucleotide variant Likely benign rs751249139 GRCh38 Chromosome 11, 613444: 613444
30 IRF7 NM_004031.2(IRF7): c.1038C> T (p.Ser346=) single nucleotide variant Likely benign rs751249139 GRCh37 Chromosome 11, 613444: 613444

Expression for Immunodeficiency 39

Search GEO for disease gene expression data for Immunodeficiency 39.

Pathways for Immunodeficiency 39

GO Terms for Immunodeficiency 39

Sources for Immunodeficiency 39

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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