IMD46
MCID: IMM135
MIFTS: 24

Immunodeficiency 46 (IMD46)

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

Aliases & Classifications for Immunodeficiency 46

MalaCards integrated aliases for Immunodeficiency 46:

Name: Immunodeficiency 46 57 12 72 29 6
Imd46 57 12 72
Combined Immunodeficiency Due to Tfrc Deficiency 12 58
Tfrc-Related Combined Immunodeficiency 12 58
Cid Due to Tfrc Deficiency 12 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111948
OMIM® 57 616740
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
Orphanet 58 ORPHA476113
UMLS 70 C4225219

Summaries for Immunodeficiency 46

Disease Ontology : 12 A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has material basis in homozygous or compound heterozygous mutation in TFRC on chromosome 3q29.

MalaCards based summary : Immunodeficiency 46, also known as imd46, is related to immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis. An important gene associated with Immunodeficiency 46 is TFRC (Transferrin Receptor). Affiliated tissues include t cells and b cells, and related phenotypes are failure to thrive and anemia

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 616740 PS300755

Related Diseases for Immunodeficiency 46

Diseases related to Immunodeficiency 46 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 11.0

Symptoms & Phenotypes for Immunodeficiency 46

Human phenotypes related to Immunodeficiency 46:

31 (show all 12)
# 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 conjunctivitis 31 very rare (1%) HP:0000509
4 meningitis 31 very rare (1%) HP:0001287
5 chronic diarrhea 31 very rare (1%) HP:0002028
6 sepsis 31 very rare (1%) HP:0100806
7 recurrent sinopulmonary infections 31 very rare (1%) HP:0005425
8 chronic oral candidiasis 31 very rare (1%) HP:0009098
9 intermittent thrombocytopenia 31 very rare (1%) HP:0004854
10 immunodeficiency 31 HP:0002721
11 neutropenia 31 HP:0001875
12 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immunodeficiency 46

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 46

Genetic Tests for Immunodeficiency 46

Genetic tests related to Immunodeficiency 46:

# Genetic test Affiliating Genes
1 Immunodeficiency 46 29 TFRC

Anatomical Context for Immunodeficiency 46

MalaCards organs/tissues related to Immunodeficiency 46:

40
T Cells, B Cells

Publications for Immunodeficiency 46

Articles related to Immunodeficiency 46:

# Title Authors PMID Year
1
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. 6 57
26642240 2016
2
Predictors of Clostridium difficile infections in hospitalized children. 61
24343932 2014

Variations for Immunodeficiency 46

ClinVar genetic disease variations for Immunodeficiency 46:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TFRC NM_001128148.3(TFRC):c.1198+1G>T SNV Pathogenic 587621 rs1341988492 GRCh37: 3:195792313-195792313
GRCh38: 3:196065442-196065442
2 TFRC NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) SNV Conflicting interpretations of pathogenicity 218163 rs863225436 GRCh37: 3:195802210-195802210
GRCh38: 3:196075339-196075339
3 TFRC NM_001128148.3(TFRC):c.1181A>G (p.Lys394Arg) SNV Uncertain significance 1028096 GRCh37: 3:195792331-195792331
GRCh38: 3:196065460-196065460
4 TFRC NM_001128148.3(TFRC):c.1678-3C>T SNV Uncertain significance 1028097 GRCh37: 3:195782175-195782175
GRCh38: 3:196055304-196055304
5 TFRC NM_001128148.3(TFRC):c.464G>C (p.Arg155Pro) SNV Uncertain significance 1028098 GRCh37: 3:195798994-195798994
GRCh38: 3:196072123-196072123
6 TFRC NM_001128148.3(TFRC):c.2186C>T (p.Thr729Met) SNV Uncertain significance 1031313 GRCh37: 3:195778910-195778910
GRCh38: 3:196052039-196052039
7 TFRC NM_001128148.3(TFRC):c.1136A>G (p.Asn379Ser) SNV Uncertain significance 1033985 GRCh37: 3:195792376-195792376
GRCh38: 3:196065505-196065505

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

72
# Symbol AA change Variation ID SNP ID
1 TFRC p.Tyr20His VAR_076365 rs863225436

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....