MCID: IMM135
MIFTS: 18

Immunodeficiency 46

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

Aliases & Classifications for Immunodeficiency 46

MalaCards integrated aliases for Immunodeficiency 46:

Name: Immunodeficiency 46 57 75 6
Imd46 57 75
Combined Immunodeficiency Due to Tfrc Deficiency 59
Tfrc-Related Combined Immunodeficiency 59
Cid Due to Tfrc Deficiency 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency 46:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


Summaries for Immunodeficiency 46

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Immunodeficiency 46 is TFRC (Transferrin Receptor). Affiliated tissues include b cells and t cells, and related phenotypes are conjunctivitis and meningitis

Description from OMIM: 616740

Related Diseases for Immunodeficiency 46

Symptoms & Phenotypes for Immunodeficiency 46

Symptoms via clinical synopsis from OMIM:

57
Immunology:
recurrent infections
hypogammaglobulinemia
primary combined immunodeficiency
decreased numbers of memory b cells
defective immunoglobulin class switching
more
Hematology:
anemia, mild
thrombocytopenia, intermittent


Clinical features from OMIM:

616740

Human phenotypes related to Immunodeficiency 46:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 conjunctivitis 32 very rare (1%) HP:0000509
2 meningitis 32 very rare (1%) HP:0001287
3 failure to thrive 32 very rare (1%) HP:0001508
4 neutropenia 32 HP:0001875
5 anemia 32 very rare (1%) HP:0001903
6 chronic diarrhea 32 very rare (1%) HP:0002028
7 decreased antibody level in blood 32 HP:0004313
8 intermittent thrombocytopenia 32 very rare (1%) HP:0004854
9 recurrent sinopulmonary infections 32 very rare (1%) HP:0005425
10 chronic oral candidiasis 32 very rare (1%) HP:0009098
11 sepsis 32 very rare (1%) HP:0100806

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:

41
B Cells, T Cells

Publications for Immunodeficiency 46

Variations for Immunodeficiency 46

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

75
# 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
2 TFRC NM_003234.3(TFRC): c.58T> C (p.Tyr20His) single nucleotide variant Pathogenic rs863225436 GRCh38 Chromosome 3, 196075339: 196075339

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
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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