Moyamoya disease with early-onset achalasia
Findings
No curated finding names Moyamoya disease with early-onset achalasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.
Definition from the Mondo Disease Ontology (MONDO:0014331), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AchalasiaHPOHP:0002571
- 9 of 9 reported patients
- HypertensionHPOHP:0000822
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- StrokeHPOHP:0001297
- Obligate (100% of cases)
- Abnormal cerebral vascular morphologyHPOHP:0100659
- Frequent (30% to 79% of cases)
- Moyamoya phenomenonHPOHP:0011834
- 3 of 5 reported patients
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GUCY1A1HGNC:4685
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Moyamoya disease with early-onset achalasia
- Also called
- moyamoya 6 with achalasia