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Moyamoya disease with early-onset achalasia
Disease 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; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.
ORPHA:401945
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Neonatal, Infancy
- ICD-10: I67.5
- OMIM: 615750
- UMLS: C4305378
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2015) Italiano (2015) Nederlands (2015)
Detailed information
Guidelines
- Anesthesia guidelines
- Czech (2014) - Orphananesthesia
- English (2014) - Orphananesthesia
- Italiano (2014) - Orphananesthesia
Disease review articles
- Review article
- English (2015) - Appl Clin Genet


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.