Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.
Matched Phenotype
Gene
Mutation
MeSH
Rank (Similarity) |
PMID (PMCID) |
Phenotype(s) retrieved from Orphanet
Total: 8
HPO ID |
Term |
Frequency |
HP:0001297 |
Stroke |
Obligate (100%) |
HP:0000822 |
Hypertension |
Frequent (79-30%) |
HP:0011834 |
Moyamoya phenomenon |
Frequent (79-30%) |
HP:0100659 |
Abnormality of the cerebral vasculature |
Frequent (79-30%) |
HP:0000965 |
Cutis marmorata |
Occasional (29-5%) |
HP:0001873 |
Thrombocytopenia |
Occasional (29-5%) |
HP:0030402 |
Abnormal platelet aggregation |
Occasional (29-5%) |
HP:0030880 |
Raynaud phenomenon |
Occasional (29-5%) |
Phenotype(s) retrieved from case reports
Total: 0
HPO ID |
Term |
# of case reports |
Causative gene(s) retrieved from Orphanet
Total: 1
Gene Symbol |
Gene Name |
Entrez Gene ID |
GUCY1A1 |
guanylate cyclase 1 soluble subunit alpha 1 |
2982 |