Details of Disease

General Information of Disease (ID: DISUG5ES)

Disease Name Autoimmune lymphoproliferative syndrome
Synonyms autoimmune lymphoproliferative syndrome type 1, autosomal dominant; ALPS; Canale-Smith syndrome; ALPS (autoimmune lymphoproliferative syndrome); FAS deficiency
Definition
Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.
Disease Hierarchy
DISPBWVK: Type IV hypersensitivity disease
DISORMTM: Autoimmune disease
DIS9RZ96: Neoplastic syndrome
DISMVL8O: Lymphoproliferative syndrome
DISUG5ES: Autoimmune lymphoproliferative syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CASP10 TTX5HEK Supportive Autosomal dominant [1]
FAS TT7LTUJ Supportive Autosomal dominant [2]
FASLG TTO7014 Supportive Autosomal dominant [1]
PRKCD TT9WJ8U Supportive Autosomal dominant [3]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CASP10 OTE6J88E Supportive Autosomal dominant [1]
FAS OTP9XG86 Supportive Autosomal dominant [2]
FASLG OTZARCHH Supportive Autosomal dominant [1]
PRKCD OTSEH90E Supportive Autosomal dominant [3]
RASGRP1 OTX9WN2E Supportive Autosomal dominant [4]
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References

1 Autoimmune Lymphoproliferative Syndrome. 2006 Sep 14 [updated 2017 Aug 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2 Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults. Haematologica. 2013 Mar;98(3):389-92. doi: 10.3324/haematol.2012.067488. Epub 2012 Sep 14.
3 Loss-of-function of the protein kinase C (PKC) causes a B-cell lymphoproliferative syndrome in humans. Blood. 2013 Apr 18;121(16):3117-25. doi: 10.1182/blood-2012-12-469544. Epub 2013 Feb 21.
4 RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. J Allergy Clin Immunol. 2018 Aug;142(2):595-604.e16. doi: 10.1016/j.jaci.2017.10.026. Epub 2017 Nov 15.