Details of Disease

General Information of Disease (ID: DISC2C93)

Disease Name	Adenosine deaminase defciency
Synonyms	SCID due to ADA deficiency, delayed onset; severe combined immunodeficiency due to adenosine deaminase deficiency; adenosine deaminase deficiency, partial; partial ADA deficiency; severe combined immunodeficiency due to ADA deficiency; SCID due to ADA deficiency, late-onset; adenosine deaminase deficient severe combined immunodeficiency; SCID due to ADA deficiency; adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism; ADA deficiency; adenosine deaminase deficiency; ADA; severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism; severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency; SCID due to adenosine deaminase deficiency; SCID due to ADA deficiency, early-onset; ADA-SCID
Disease Class	4A01: Adaptive immunity immunodeficiency
Definition	A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
Disease Hierarchy	DISQZI8H: Inborn disorder of purine metabolism DIS8RTG7: Familial severe combined immunodeficiency DIS225UQ: T-B- severe combined immunodeficiency DISC2C93: Adenosine deaminase defciency
ICD Code	ICD-11 ICD-11: 4A01.1
Disease Identifiers	MONDO ID MONDO_0007064 UMLS CUI C1863236 OMIM ID 102700 MedGen ID 354935 Orphanet ID 277

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Elapegademase	DMS7OU8	Approved	NA	[1]
------------------------------------------------------------------------------------

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
FluNhance	DMZS2XF	Phase 3	NA	[2]
------------------------------------------------------------------------------------

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
ADA	TTLP57V	Strong	Genetic Variation	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ADA	DEDQHBV	Definitive	Autosomal recessive	[4]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PKIG	OTOIWE5G	Strong	Genetic Variation	[3]
ADA	OTOX2872	Definitive	Autosomal recessive	[4]
------------------------------------------------------------------------------------

References

1	2018 FDA drug approvals.Nat Rev Drug Discov. 2019 Feb;18(2):85-89.
2	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800010156)
3	Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decades Experience.J Investig Allergol Clin Immunol. 2017;27(5):299-304. doi: 10.18176/jiaci.0147. Epub 2017 Mar 7.
4	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.