Details of Disease | DrugMAP

General Information of Disease (ID: DIS55GAU)

Disease Name	TFRC-related combined immunodeficiency
Synonyms	combined immunodeficiency due to TFRC deficiency; IMD46; immunodeficiency 46; CID due to TFRC deficiency; immunodeficiency type 46
Disease Hierarchy	DIS093I0: Immunodeficiency DIS55GAU: TFRC-related combined immunodeficiency
Disease Identifiers	MONDO ID MONDO_0014760 UMLS CUI C5568133 OMIM ID 616740 MedGen ID 1799556 Orphanet ID 476113 SNOMED CT ID 1179288008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TFRC	TT8MG4S	Moderate	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TFRC	OT8ZPBDL	Moderate	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.