Moyamoya disease with early-onset achalasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Moyamoya disease with early-onset achalasia | |
| fr | Maladie de Moyamoya avec achalasie précoce | |
| de | Moyamoya-Krankheit mit früh-einsetzender Achalasie | |
| es | Enfermedad de Moyamoya con acalasia de inicio precoz | |
| it | Malattia di moyamoya con acalasia ad esordio precoce | |
| nl | Moyamoya-ziekte met vroeg optredende achalasie | |
| pt | Doença de Moyamoya com acalásia de início precoce | |
| pl | Choroba Moyamoya z achalazją o wczesnym początku | |
| cs | Nemoc Moya-moya s achalázií s časným nástupem | |
| uk | Хвороба Моямоя з ранньою ахалазією | |
| zh | 烟雾病伴早发型贲门失弛缓症 | |
| tr | Erken başlangıçlı akalazi ile seyreden moyamoya hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615750 | E | validated | |
| ICD-10 | K22.0 | NTBT | attributed | validated |
| ICD-11 | DA21.0 | NTBT | attributed | validated |
| MONDO | 0014331 | E | validated | |
| UMLS | C4305378 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:165658Genetic gastro-esophageal disease
rare genetic diseases - ORPHA:477771Rare disorder with a moyamoya angiopathy
rare genetic diseases; rare neurological diseases - ORPHA:101936Rare gastroesophageal disease
rare gastroenterological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GUCY1A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4685 | ENSG00000164116 | 139396 | 4q32.1 | guanylate cyclase 1 soluble subunit alpha 1 | 24581742[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 24581742[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24581742[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
8 annotations · validated 2017-01-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001297 | Stroke | |
| Frequent (79-30%) | ||
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0000822 | Hypertension | |
| HP:0011834 | Moyamoya phenomenon | |
| Occasional (29-5%) | ||
| HP:0030402 | Abnormal platelet aggregation | |
| HP:0000965 | Cutis marmorata | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24581742[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401945
- This record as JSON: /data/d/401945.json