Details of Disease

General Information of Disease (ID: DISAFGRA)

Disease Name Autoimmune lymphoproliferative syndrome type 1
Synonyms
ALPS; autoimmune lymphoproliferative syndrome, type I, autosomal dominant; autoimmune lymphoproliferative syndrome; Canale-Smith syndrome; autoimmune lymphoproliferative syndrome, type I, autosomal recessive; autoimmune lymphoproliferative syndrome, type 1A; autoimmune lymphoproliferative syndrome, type 1B; autoimmune lymphoproliferative syndrome, type IB; autoimmune lymphoproliferative syndrome, type IA; autoimmune lymphoproliferative syndrome type 1
Disease Hierarchy
DISUG5ES: Autoimmune lymphoproliferative syndrome
DISAFGRA: Autoimmune lymphoproliferative syndrome type 1
Disease Identifiers
MONDO ID
MONDO_0011158
MESH ID
D056735
UMLS CUI
C1328840
OMIM ID
601859
MedGen ID
231300
SNOMED CT ID
702444009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 8 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CASP10 TTX5HEK Strong Genetic Variation [1]
CASP8 TT6SZNG Strong Genetic Variation [1]
FAS TT7LTUJ Strong Biomarker [2]
FASLG TTO7014 Strong Autosomal recessive [3]
FASLG TTO7014 Strong Biomarker [4]
PRKCD TT7A1BO Strong Biomarker [5]
TNFAIP3 TT5W0IO Strong Biomarker [6]
FAS TT7LTUJ Definitive Autosomal dominant [7]
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⏷ Show the Full List of 8 DTT(s)
This Disease Is Related to 11 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
B3GAT1 OTXFP98E Limited Biomarker [8]
PRF1 OTFVXD7H Limited Genetic Variation [9]
CD48 OT83ZNPP Strong Altered Expression [10]
CETN2 OTJTTGS0 Strong Biomarker [11]
EOMES OTB9VQFA Strong Biomarker [12]
FADD OTV7GFHH Strong Genetic Variation [13]
FASLG OTZARCHH Strong Autosomal recessive [3]
LRBA OTOUZN9G Strong Biomarker [14]
LYPLA1 OTENU47T Strong Genetic Variation [15]
RASGRP1 OTX9WN2E Strong Genetic Variation [16]
FAS OTP9XG86 Definitive Autosomal dominant [7]
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⏷ Show the Full List of 11 DOT(s)

References

1 FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.Br J Haematol. 2019 Nov;187(4):502-508. doi: 10.1111/bjh.16098. Epub 2019 Jul 15.
2 Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation.Front Immunol. 2018 Apr 9;9:718. doi: 10.3389/fimmu.2018.00718. eCollection 2018.
3 Complete loss of Fas ligand gene causes massive lymphoproliferation and early death, indicating a residual activity of gld allele. J Immunol. 2004 Feb 15;172(4):2118-25. doi: 10.4049/jimmunol.172.4.2118.
4 An atypical case of late-onset systemic lupus erythematosus with systemic lymphadenopathy and severe autoimmune thrombocytopenia/neutropenia mimicking malignant lymphoma.Int J Hematol. 2017 Apr;105(4):526-531. doi: 10.1007/s12185-016-2126-8. Epub 2016 Nov 15.
5 Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase C Deficiency.J Clin Immunol. 2015 Aug;35(6):523-6. doi: 10.1007/s10875-015-0178-9. Epub 2015 Aug 2.
6 A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease.Ann Rheum Dis. 2018 May;77(5):728-735. doi: 10.1136/annrheumdis-2017-212403. Epub 2018 Jan 9.
7 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
8 FAS gene mutation in a case of autoimmune lymphoproliferative syndrome type IA with accumulation of gammadelta+ T cells.Am J Surg Pathol. 2003 Apr;27(4):546-53. doi: 10.1097/00000478-200304000-00017.
9 Variations of the perforin gene in patients with type 1 diabetes.Diabetes. 2008 Apr;57(4):1078-83. doi: 10.2337/db07-0947. Epub 2008 Jan 15.
10 The induction of Bim expression in human T-cell blasts is dependent on nonapoptotic Fas/CD95 signaling.Blood. 2007 Feb 15;109(4):1627-35. doi: 10.1182/blood-2006-05-022319. Epub 2006 Oct 24.
11 Screening for key genes associated with invasive ductal carcinoma of the breast via microarray data analysis.Genet Mol Res. 2014 Sep 29;13(3):7919-25. doi: 10.4238/2014.September.29.5.
12 Cutting edge: Lymphoproliferation caused by Fas deficiency is dependent on the transcription factor eomesodermin.J Immunol. 2010 Dec 15;185(12):7151-5. doi: 10.4049/jimmunol.1003193. Epub 2010 Nov 12.
13 Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet. 2010 Dec 10;87(6):873-81. doi: 10.1016/j.ajhg.2010.10.028. Epub 2010 Nov 25.
14 A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.J Clin Immunol. 2019 Oct;39(7):726-738. doi: 10.1007/s10875-019-00677-6. Epub 2019 Aug 20.
15 Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.Am J Hum Genet. 1999 Apr;64(4):1002-14. doi: 10.1086/302333.
16 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.