alacrima, achalasia, and impaired intellectual development syndrome

Summary
Synonym
  • AAMR
  • alacrima, achalasia, and mental retardation syndrome
Definition
A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35.
Super Class
autosomal recessive disease congenital disorder of glycosylation
Disease Ontology
DOID:0112321
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29926 GMPPA GDP-mannose pyrophosphorylase A
The Human Phenotype Ontology
Displaying entries 1 - 10 of 52 in total
HPO ID HPO Term
HP:0000982 Palmoplantar keratoderma
HP:0002376 Developmental regression
HP:0000612 Iris coloboma
HP:0007440 Generalized hyperpigmentation
HP:0001347 Hyperreflexia
HP:0000407 Sensorineural hearing impairment
HP:0004322 Short stature
HP:0001251 Ataxia
HP:0010486 Abnormality of the hypothenar eminence
HP:0000830 Anterior hypopituitarism
Displaying 1 entry
Gene ID Gene Symbol Description
29926 GMPPA GDP-mannose pyrophosphorylase A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024