Congenital generalized hypercontractile muscle stiffness syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital generalized hypercontractile muscle stiffness syndrome | |
| fr | Syndrome congénital de rigidité musculaire hypercontractile généralisée | |
| de | Syndrom der kongenitalen generalisierten hyperkontraktilen Muskelsteifheit | |
| es | Síndrome de rigidez muscular hipercontractil congénito generalizado | |
| it | Sindrome congenita da rigidità muscolare generalizzata ipercontrattile | |
| nl | Congenitale gegeneraliseerde hypercontractiele spierstijfheid-syndroom | |
| pt | Síndrome de rigidez muscular hipercontráctil generalizada congénita | |
| pl | Wrodzony uogólniony zespół sztywności mięśniowej z hiperkurczliwością | |
| cs | Kongenitální generalizovaný syndrom hyperkontraktilní svalové ztuhlosti | |
| uk | Вроджений генералізований синдром гіперскоротливої ригідності мязів | |
| zh | 遗传性全身过度收缩性肌肉僵硬综合征 | |
| tr | Doğumsal jeneralize hiper kasılma kas sertliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 0018780 | E | validated | |
| UMLS | C5567789 | 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 (4):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:476403Hypercontractile muscle stiffness syndrome
rare genetic diseases; rare neurological diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:284790Qualitative or quantitative defects of tropomyosin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TPM3 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:12012 | ENSG00000143549 | 191030 | 1q21.3 | tropomyosin 3 | 26418456[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 26418456[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26418456[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/476406
- This record as JSON: /data/d/476406.json