MCID: IMM135
MIFTS: 18

Immunodeficiency 46

Categories: Genetic diseases, Immune diseases, Blood diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 46

MalaCards integrated aliases for Immunodeficiency 46:

Name: Immunodeficiency 46 53 71
Imd46 53 71
Tfrc-Related Combined Immunodeficiency 55

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
early death may occur
two unrelated families have been reported (last curated january 2016)


HPO:

31
immunodeficiency 46:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare immunological diseases


Summaries for Immunodeficiency 46

UniProtKB/Swiss-Prot : 71 Immunodeficiency 46: An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia.

MalaCards based summary : Immunodeficiency 46, is also known as imd46, and has symptoms including failure to thrive, anemia and decreased antibody level in blood. An important gene associated with Immunodeficiency 46 is TFRC (Transferrin Receptor). Affiliated tissues include t cells and b cells.

Description from OMIM: 616740

Related Diseases for Immunodeficiency 46

Symptoms & Phenotypes for Immunodeficiency 46

Symptoms via clinical synopsis from OMIM:

53
Immunology:
recurrent infections
hypogammaglobulinemia
decreased numbers of memory b cells
primary combined immunodeficiency
defective immunoglobulin class switching
more
Hematology:
anemia, mild
thrombocytopenia, intermittent


Clinical features from OMIM:

616740

Human phenotypes related to Immunodeficiency 46:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 anemia 31 very rare (1%) HP:0001903
3 decreased antibody level in blood 31 HP:0004313
4 conjunctivitis 31 very rare (1%) HP:0000509
5 meningitis 31 very rare (1%) HP:0001287
6 neutropenia 31 HP:0001875
7 chronic diarrhea 31 very rare (1%) HP:0002028
8 sepsis 31 very rare (1%) HP:0100806
9 recurrent sinopulmonary infections 31 very rare (1%) HP:0005425
10 intermittent thrombocytopenia 31 very rare (1%) HP:0004854
11 chronic oral candidiasis 31 very rare (1%) HP:0009098

Drugs & Therapeutics for Immunodeficiency 46

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 46

Genetic Tests for Immunodeficiency 46

Anatomical Context for Immunodeficiency 46

MalaCards organs/tissues related to Immunodeficiency 46:

38
T Cells, B Cells

Publications for Immunodeficiency 46

Variations for Immunodeficiency 46

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 46:

71
# Symbol AA change Variation ID SNP ID
1 TFRC p.Tyr20His VAR_076365 rs863225436

ClinVar genetic disease variations for Immunodeficiency 46:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TFRC NM_003234.3(TFRC): c.58T> C (p.Tyr20His) single nucleotide variant Pathogenic rs863225436 GRCh37 Chromosome 3, 195802210: 195802210

Expression for Immunodeficiency 46

Search GEO for disease gene expression data for Immunodeficiency 46.

Pathways for Immunodeficiency 46

GO Terms for Immunodeficiency 46

Sources for Immunodeficiency 46

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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