Details of Disease

General Information of Disease (ID: DISDAF1Y)

Disease Name Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Synonyms
autoimmune lymphoproliferative syndrome, type 5; CTLA4 haploinsufficiency with autoimmune infiltration; autoimmune lymphoproliferative syndrome, type V; ALPS5; ALPS type V; chai; immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CTLA4 haploinsufficiency; autoimmune lymphoproliferative syndrome type V; ALPS type 5; autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; autoimmune lymphoproliferative syndrome type 5
Definition A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.
Disease Hierarchy
DISUG5ES: Autoimmune lymphoproliferative syndrome
DISDAF1Y: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Disease Identifiers
MONDO ID
MONDO_0014493
UMLS CUI
C4015214
OMIM ID
616100
MedGen ID
863651
Orphanet ID
436159
SNOMED CT ID
1197361002

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
CTLA4 TTI2S1D Strong Biomarker [1]
CTLA4 TTI2S1D Definitive Autosomal dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LRBA OTOUZN9G Strong Biomarker [1]
CTLA4 OTYQR611 Definitive Autosomal dominant [2]
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References

1 CTLA4 Message Reflects Pathway Disruption in Monogenic Disorders and Under Therapeutic Blockade.Front Immunol. 2019 May 16;10:998. doi: 10.3389/fimmu.2019.00998. eCollection 2019.
2 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.