Prenatal-onset spinal muscular atrophy with congenital bone fractures
Synonyms: SMABF
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Prenatal-onset spinal muscular atrophy with congenital bone fractures | SMABF |
| fr | Amyotrophie spinale prénatale avec fractures congénitales des os | |
| de | Pränatale spinale Muskelatrophie mit kongenitalen Knochenbrüchen | = en |
| es | Atrofia muscular espinal de inicio prenatal con fracturas óseas congénitas | = en |
| it | Atrofia muscolare spinale ad esordio prenatale con fratture ossee congenite | |
| nl | Spinale musculaire atrofie met congenitale botfracturen met prenatale aanvang | SMABF · Spinale spieratrofie met congenitale botbreuken met prenatale aanvang |
| pt | Atrofia muscular espinhal de início pré-natal com fraturas ósseas congénitas | |
| pl | Prenatalny rdzeniowy zanik mięśni z wrodzonymi złamaniami kości | = en |
| cs | Spinální muskulární atrofie s prenatálním nástupem a s vrozenými zlomeninami | = en |
| uk | Пренатальна спінальна мязова атрофія з вродженими переломами кісток | = en |
| zh | 出生后脊髓性肌萎缩伴先天性骨折 | 脊髓性肌萎缩伴骨折 |
| tr | Doğumsal kemik kırıkları ile seyreden doğum öncesi başlangıçlı spinal müsküler atrofi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616866 | BTNT | validated | |
| OMIM | 616867 | BTNT | validated | |
| ICD-10 | G12.8 | NTBT | attributed | validated |
| MONDO | 0000209 | E | validated | |
| UMLS | C5567518 | 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 (2):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98505Genetic motor neuron disease
rare genetic diseases; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASCC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:24268 | ENSG00000138303 | 614215 | 10q22.1 | activating signal cointegrator 1 complex subunit 1 | 26924529[PMID]_28218388[PMID] |
| TRIP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:12310 | ENSG00000103671 | 604501 | 15q22.31 | thyroid hormone receptor interactor 4 | 26924529[PMID]_28218388[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26924529[PMID]_28218388[PMID] |
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 26924529[PMID]_28218388[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/486811
- This record as JSON: /data/d/486811.json