Details of Disease | DrugMAP

General Information of Disease (ID: DISTV4ZP)

Disease Name	T-B+ severe combined immunodeficiency due to CD45 deficiency
Synonyms	T-B+ SCID due to CD45 deficiency; CD45 deficiency
Disease Hierarchy	DISFRKM4: T-B+ severe combined immunodeficiency DISTV4ZP: T-B+ severe combined immunodeficiency due to CD45 deficiency
Disease Identifiers	MONDO ID MONDO_0015702 UMLS CUI C5679579 MedGen ID 1842877 Orphanet ID 169157

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
PTPRC	TTUS45N	Supportive	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
PTPRC	OT6KOR77	Supportive	Autosomal recessive	[1]
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References

1	A deletion in the gene encoding the CD45 antigen in a patient with SCID. J Immunol. 2001 Jan 15;166(2):1308-13. doi: 10.4049/jimmunol.166.2.1308.