Details of Disease | DrugMAP

General Information of Disease (ID: DIS5JRV9)

Disease Name	Alacrima, achalasia, and intellectual disability syndrome
Synonyms	AAMR; GMPPA-CDG; alacrima, achalasia, and intellectual disability syndrome; alacrima, achalasia, and mental retardation syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISCPWH9: Autosomal recessive disease DIS5JRV9: Alacrima, achalasia, and intellectual disability syndrome
Disease Identifiers	MONDO ID MONDO_0014219 UMLS CUI C4706563 OMIM ID 615510 MedGen ID 1640947 SNOMED CT ID 763741001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GMPPA	OTADC03N	Definitive	Autosomal recessive	[1]
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References

1	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.