Details of Disease | DrugMAP

General Information of Disease (ID: DISPUD3N)

Disease Name	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Synonyms	T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
Disease Hierarchy	DISFRKM4: T-B+ severe combined immunodeficiency DISPUD3N: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Disease Identifiers	MONDO ID MONDO_0015703 UMLS CUI C5679578 MedGen ID 1842819 Orphanet ID 169160

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
CD3E	TTZAT79	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CD247	OT45FGUX	Supportive	Autosomal recessive	[1]
CD3D	OTRBLP0R	Supportive	Autosomal recessive	[1]
CD3E	OT13LE5J	Supportive	Autosomal recessive	[1]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.