ORPHA:2573
Moyamoya disease
Synonyms: Idiopathic Moyamoya disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive
- Age of onset
- All ages
- Status
- active
Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Moyamoya disease | Idiopathic Moyamoya disease |
| fr | Maladie de Moyamoya | Maladie de Moyamoya idiopathique |
| de | Moyamoya-Krankheit | Moyamoya-Krankheit, idiopathische |
| es | Enfermedad de Moyamoya | Enfermedad de Moyamoya idiopática |
| it | Malattia di moyamoya | |
| nl | Moyamoya-ziekte | Idiopathische moyamoya-ziekte |
| pt | Doença de Moyamoya | Doença de Moyamoya idiopática |
| pl | Choroba moyamoya | Idiopatyczna choroba moyamoya |
| cs | Moyamoya onemocnění | = en |
| uk | Хвороба Моямоя | Ідіопатична хвороба Моямоя |
| zh | 烟雾病 | 特发性烟雾病 |
| tr | Moyamoya hastalığı | İdiyopatik Moyamoya hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252350 | E | validated | |
| OMIM | 607151 | BTNT | validated | |
| OMIM | 608796 | BTNT | validated | |
| OMIM | 614042 | BTNT | validated | |
| OMIM | 620687 | BTNT | validated | |
| OMIM | 621469 | BTNT | validated | |
| ICD-10 | I67.5 | E | specific | validated |
| ICD-11 | 8B22.B | NTBT | index | validated |
| MONDO | 0016820 | E | validated | |
| MeSH | D009072 | E | validated | |
| UMLS | C0026654 | E | validated | |
| GARD | 7064 | E | validated | |
| MedDRA | 10028047 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:477768Moyamoya angiopathy
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DIAPH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2876 | ENSG00000131504 | 602121 | 5q31.3 | diaphanous related formin 1 | 34125151[PMID] |
| ACTA2 | Major susceptibility factor in | Assessed | HGNC:130 | ENSG00000107796 | 102620 | 10q23.31 | actin alpha 2, smooth muscle | 19409525[PMID]_20970362[PMID] |
| ANO1 | Major susceptibility factor in | Assessed | HGNC:21625 | ENSG00000131620 | 610108 | 11q13.3 | anoctamin 1 | 37253099[PMID] |
| RNF213 | Major susceptibility factor in | Assessed | HGNC:14539 | ENSG00000173821 | 613768 | 17q25.3 | ring finger protein 213 | 21048783[PMID]_21799892[PMID]_22377813[PMID] |
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Prevalence and incidence
10 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.74 / 100 000 | Japan | Value and class | Not yet validated | 9409395[PMID]_18048855[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.2 / 100 000 | Japan | Value and class | Not yet validated | 9409395[PMID]_18048855[PMID]_23041378[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.43 / 100 000 | China | Value and class | Validated | 20004511[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.92 / 100 000 | China | Value and class | Validated | 20004511[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.048 / 100 000 | Taiwan, Province of China | Value and class | Validated | 9409399[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.44 / 100 000 | Taiwan, Province of China | Value and class | Validated | 9409399[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.086 / 100 000 | United States | Value and class | Validated | 16186547[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.33 / 100 000 | France | Value and class | Validated | [EXPERT] |
| Annual incidence | <1 / 1 000 000 | 0.035 / 100 000 | Europe | Value and class | Not yet validated | ISBN:9783211243381[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001009 | Telangiectasia | |
| Frequent (79-30%) | ||
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2573
- This record as JSON: /data/d/2573.json