Details of Disease

General Information of Disease (ID: DIS5TCD0)

Disease Name Moyamoya disease with early-onset achalasia
Synonyms Moyamoya disease 6 with achalasia; MYMY6; moyamoya 6 with achalasia
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.
Disease Hierarchy
DISO62CA: Moyamoya disease
DIS7JDYJ: Gastrointestinal disease
DIS5TCD0: Moyamoya disease with early-onset achalasia
Disease Identifiers
MONDO ID
MONDO_0014331
UMLS CUI
C3810403
OMIM ID
615750
MedGen ID
816733
Orphanet ID
401945

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
GUCY1A1 OTPTCBUN Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.