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MIRAGE
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
External Links
- Disease Ontology
- DOID:0112321
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96IJ6 | Mannose-1-phosphate guanylyltransferase regulatory subunit alpha |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003593 | Infantile onset |
| HP:0000966 | Hypohidrosis |
| HP:0010450 | Esophageal stenosis |
| HP:0001257 | Spasticity |
| HP:0000666 | Horizontal nystagmus |
| HP:0002643 | Neonatal respiratory distress |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001290 | Generalized hypotonia |
| HP:0000448 | Prominent nose |
| HP:0003577 | Congenital onset |
