Details of Disease | DrugMAP

General Information of Disease (ID: DISWXASJ)

Disease Name	Immunodeficiency 78 with autoimmunity and developmental delay
Synonyms	immunodeficiency 78 with autoimmunity and developmental delay; IMD78; TPP2 deficiency
Disease Hierarchy	DIS093I0: Immunodeficiency DISWXASJ: Immunodeficiency 78 with autoimmunity and developmental delay
Disease Identifiers	MONDO ID MONDO_0030971 UMLS CUI C5543159 OMIM ID 619220 MedGen ID 1785772 SNOMED CT ID 1222681008

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
TPP2	TTQ7R2V	Strong	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
TPP2	OT91OVAU	Strong	Autosomal recessive	[1]
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References

1	Activation of cellular death programs associated with immunosenescence-like phenotype in TPPII knockout mice. Proc Natl Acad Sci U S A. 2008 Apr 1;105(13):5177-82. doi: 10.1073/pnas.0801413105. Epub 2008 Mar 24.