Details of Disease | DrugMAP

General Information of Disease (ID: DISCOH2J)

Disease Name	Triple-A syndrome
Synonyms	ACTH-resistant adrenal insufficiency, achalasia and alacrima; glucocorticoid deficiency and achalasia; alacrima-achalasia-adrenal insufficiency neurologic disorder; hypoadrenalism with achalasia; achalasia addisonianism alacrimia syndrome; achalasia alacrima syndrome; Addisonian-achalasia syndrome; AAA; triple A syndrome; AAAS; alacrima-achalasia-addisonianism; Addisonian achalasia syndrome; achalasia-alacrima syndrome; 2A syndrome; Double A syndrome; triple-a syndrome; achalasia-addisonianism-alacrima syndrome; Allgrove syndrome; achalasia-addisonianism-alacrimia syndrome; quaternary A syndrome; 4A syndrome; AAA syndrome; adrenal insufficiency-achalasia-alacrima syndrome; 3A syndrome
Definition	Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISCPWH9: Autosomal recessive disease DIS7HNOH: Addison disease DISCOH2J: Triple-A syndrome
Disease Identifiers	MONDO ID MONDO_0009279 MESH ID C536008 UMLS CUI C0271742 OMIM ID 231550 MedGen ID 82889 Orphanet ID 869 SNOMED CT ID 45414006

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
SGPL1	TT618Q2	Strong	Genetic Variation	[1]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GMPPA	OTADC03N	Supportive	Autosomal recessive	[2]
TRAPPC11	OTPZYXGA	Supportive	Autosomal recessive	[3]
AGFG2	OTXQZHCR	Strong	Biomarker	[4]
RGPD2	OTMUZ0HX	Strong	Biomarker	[4]
SMARCD1	OTHFFT6G	Strong	Biomarker	[5]
AAAS	OTJT9T23	Definitive	Autosomal recessive	[6]
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⏷ Show the Full List of 6 DOT(s)

References

1	SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.J Clin Endocrinol Metab. 2019 May 1;104(5):1484-1490. doi: 10.1210/jc.2018-02238.
2	Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12.
3	A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. J Med Genet. 2017 Mar;54(3):176-185. doi: 10.1136/jmedgenet-2016-104108. Epub 2016 Oct 5.
4	Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.Hum Mol Genet. 2019 Dec 1;28(23):3921-3927. doi: 10.1093/hmg/ddz236.
5	Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome.Genomics. 1998 Jul 1;51(1):140-3. doi: 10.1006/geno.1998.5343.
6	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.