ORPHA:168572
Native American myopathy
Synonyms: STAC3-related congenital myopathy · Bailey-Bloch congenital myopathy · Congenital myopathy-cleft palate-malignant hyperthermia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Native American myopathy | STAC3-related congenital myopathy · Bailey-Bloch congenital myopathy · Congenital myopathy-cleft palate-malignant hyperthermia syndrome |
| fr | Myopathie amérindienne | Myopathie congénitale associée à STAC3 · Myopathie congénitale de Bailey-Bloch · Syndrome de myopathie congénitale-fente palatine-hyperthermie maligne |
| de | Native-American-Myopathie | Bailey-Bloch-Myopathie · CMYO13 · Kongenitale Myopathie-13 · Kongenitale Myopathie-Gaumenspalte-maligne Hyperthermie-Syndrom · STAC3-Störung · STAC3-assoziierte kongenitale Myopathie |
| es | Miopatía de los nativos amerindios | Miopatía congénita asociada a STAC3 · Miopatía congénita de Bailey-Bloch · Síndrome congénito de miopatía-paladar hendido-hipertemia maligna |
| it | Miopatia dei Nativi americani | Sindrome miopatia congenita-palatoschisi-ipertermia maligna · Miopatia dei Nativi americani · Miopatia congenita associata a STAC3 |
| nl | Noord-Amerikaanse myopathie | Congenitale myopathie - gespleten gehemelte - maligne hyperthermie-syndroom · Congenitale myopathie van Bailey-Bloch · Congenitale myopathie, Bailey-Bloch-type · STAC3-gerelateerde congenitale myopathie |
| pt | Miopatia nativo americana | Miopatia congénita Bailey-Bloch · Síndrome de miopatia congénita-fenda palatina-hipertermia maligna · Miopatia congénita STAC3-relacionada |
| pl | Miopatia rdzennych Amerykanów | Wrodzona miopatia- rozszczep podniebienia - hipertermia złośliwa |
| cs | Myopatie rodilých Američanů | Syndrom zahrnující vrozenou myopatii, rozštěp patra a maligní hypertermii |
| uk | Міопатія корінних американців | Синдром вродженої міопатії - розщілини піднебіння - злоякісної гіпертермії |
| zh | 美洲原住民肌病 | 先天性肌病-腭裂-恶性高热综合征 |
| tr | Amerikan yerlisi miyopatisi | Doğumsal miyopati-yarık damak-habis hipertermi sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 255995 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.Y | NTBT | index | validated |
| MONDO | 0009722 | E | validated | |
| MeSH | C538343 | E | validated | |
| UMLS | C1850625 | E | validated | |
| GARD | 8432 | 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 (3):
- ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:466658Rare disease with malignant hyperthermia
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAC3 | Disease-causing germline mutation(s) in | Assessed | HGNC:28423 | ENSG00000185482 | 615521 | 12q13.3 | SH3 and cysteine rich domain 3 | 23736855[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 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
34 annotations · validated 2019-08-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001324 | Muscle weakness | |
| HP:0002058 | Myopathic facies | |
| Frequent (79-30%) | ||
| HP:0012084 | Abnormality of skeletal muscle fiber size | |
| HP:0010674 | Abnormality of the curvature of the vertebral column | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0001488 | Bilateral ptosis | |
| HP:0000175 | Cleft palate | |
| HP:0002803 | Congenital contracture | |
| HP:0000028 | Cryptorchidism | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001252 | Hypotonia | |
| HP:0002047 | Malignant hyperthermia | |
| HP:0001270 | Motor delay | |
| HP:0008458 | Progressive congenital scoliosis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0000193 | Bifid uvula | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001260 | Dysarthria | |
| HP:0000218 | High palate | |
| HP:0000347 | Micrognathia | |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0011819 | Submucous cleft soft palate | |
| Very rare (<4-1%) | ||
| HP:0012385 | Camptodactyly | |
| HP:0000329 | Facial hemangioma | |
| HP:0002540 | Inability to walk | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001382 | Joint hypermobility | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 31219695[PMID]_18553514[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168572
- This record as JSON: /data/d/168572.json