Multisystemic smooth muscle dysfunction syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy
- Status
- active
A rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multisystemic smooth muscle dysfunction syndrome | |
| fr | Syndrome multisystémique de dysfonctionnement des muscles lisses | |
| de | Multisystemische Dysfunktion der glatten Muskeln | MSMD-Syndrom |
| es | Síndrome multisistémico de disfunción de los músculos lisos | |
| it | Sindrome multisistemica da disfunzione della muscolatura liscia | |
| nl | Multisystemisch gladde spierdisfunctie-syndroom | |
| pt | Síndrome de disfunção multissistémica do músculo liso | |
| pl | Zespół wieloukładowej dysfunkcji mięśni gładkich ze spowolnieniem perystaltyki jelit | |
| cs | Multisystémové postižení s dysfunkcí hladké svaloviny | |
| uk | Синдром мультисистемної дисфункції гладких мязів | |
| zh | 多系统平滑肌功能障碍综合征 | |
| tr | Multisistemik düz kas disfonksiyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613834 | E | validated | |
| ICD-10 | I73.8 | NTBT | attributed | validated |
| ICD-11 | BD50.Z | NTBT | attributed | validated |
| MONDO | 0013452 | E | validated | |
| UMLS | C3151201 | E | validated | |
| GARD | 12811 | 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 (9):
- ORPHA:183503Genetic central nervous system and retinal vascular disease
rare genetic diseases - ORPHA:71281Rare central nervous system and retinal vascular disease
rare neurological diseases - ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases - ORPHA:285014Rare disease with thoracic aortic aneurysm and aortic dissection
rare genetic diseases; rare surgical thoracic diseases; rare circulatory system diseases - ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases - ORPHA:156619Rare genetic urogenital disease
rare genetic diseases - ORPHA:101433Rare urogenital disease
rare urogenital diseases - ORPHA:275853Syndrome with pulmonary hypertension as a major feature
rare respiratory diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACTA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:130 | ENSG00000107796 | 102620 | 10q23.31 | actin alpha 2, smooth muscle | 20734336[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 20734336[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20734336[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404463
- This record as JSON: /data/d/404463.json