ORPHA:98902
Amish nemaline myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A type of nemaline myopathy (NM) only observed in several families of the Amish community.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Amish nemaline myopathy | |
| fr | Myopathie némaline type Amish | |
| de | Nemalin-Myopathie Typ Amish | |
| es | Miopatía nemalínica tipo Amish | |
| it | Miopatia nemalinica, tipo Amish | |
| nl | Nemaline myopathie, Amish-type | |
| pt | Miopatia nemalínica, tipo Amish | |
| pl | Miopatia nemalinowa Amiszów | |
| cs | Nemalinová myopatie Amišů | |
| uk | Немалінова міопатія амішів | |
| zh | 阿米什线状体肌病 | |
| tr | Amish nemaline miyopatisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605355 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.00 | NTBT | index | validated |
| MONDO | 0011539 | E | validated | |
| UMLS | C1854380 | E | validated | |
| GARD | 8334 | 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:457074Congenital nemaline myopathy
rare genetic diseases; rare neurological diseases - ORPHA:607Nemaline myopathy
rare genetic diseases; rare neurological diseases - ORPHA:284786Qualitative or quantitative defects of troponin
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNNT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11948 | ENSG00000105048 | 191041 | 19q13.42 | troponin T1, slow skeletal type | 10952871[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | >1 / 1000 | 200 / 100 000 | Specific population | Value and class | Validated | 10952871[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.
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HPO phenotypes
12 annotations · validated 2018-07-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003273 | Hip contracture | |
| HP:0001270 | Motor delay | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000768 | Pectus carinatum | |
| HP:0003323 | Progressive muscle weakness | |
| HP:0007126 | Proximal amyotrophy | |
| HP:0003044 | Shoulder flexion contracture | |
| HP:0001337 | Tremor | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| Occasional (29-5%) | ||
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Annotation source: 10952871[PMID]_25712079[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98902
- This record as JSON: /data/d/98902.json