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MCID: IMM135
MIFTS: 18
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Immunodeficiency 46
Categories:
Genetic diseases, Blood diseases, Rare diseases, Immune diseases
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MalaCards integrated aliases for Immunodeficiency 46:
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:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases |
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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
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616740Human phenotypes related to Immunodeficiency 46:32 (show all 11)
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MalaCards organs/tissues related to Immunodeficiency 46:41
B Cells,
T Cells
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Genes related to Immunodeficiency 46 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 46:75
ClinVar genetic disease variations for Immunodeficiency 46:6
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Search
GEO
for disease gene expression data for Immunodeficiency 46.
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