Details of Disease | DrugMAP

General Information of Disease (ID: DISUXDZH)

Disease Name	Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Synonyms	IL21R immunodeficiency; IMD56; immunodeficiency 56; cryptosporidiosis-chronic cholangitis-liver disease syndrome
Disease Hierarchy	DIS093I0: Immunodeficiency DISUXDZH: Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Disease Identifiers	MONDO ID MONDO_0014082 UMLS CUI C3554687 OMIM ID 615207 MedGen ID 767601 Orphanet ID 357329

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IL21R	TTZO9B0	Strong	Autosomal recessive	[1]
IL21R	TTZO9B0	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL21R	OTDIOB63	Strong	Autosomal recessive	[1]
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References

1	Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med. 2013 Mar 11;210(3):433-43. doi: 10.1084/jem.20111229. Epub 2013 Feb 25.