ORPHA:171433
Intermediate nemaline myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intermediate nemaline myopathy | |
| fr | Myopathie némaline intermédiaire | |
| de | Nemalin-Myopathie, intermediäre | |
| es | Miopatía nemalínica intermedia | |
| it | Miopatia nemalinica di grado intermedio | |
| nl | Intermediaire nemaline myopathie | |
| pt | Miopatia nemalínica intermédia | |
| pl | Średniozaawansowana miopatia nemalinowa | |
| cs | Středně těžká nemalinová myopatie | |
| uk | Помірно виражена немалінова міопатія | |
| zh | 中间型杆状体肌病 | |
| tr | Orta nemalin miyopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 161800 | BTNT | validated | |
| OMIM | 256030 | BTNT | validated | |
| OMIM | 609284 | BTNT | validated | |
| OMIM | 615731 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.00 | NTBT | index | validated |
| MONDO | 0015736 | E | validated | |
| UMLS | C5680452 | E | validated | |
| GARD | 12823 | 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 (5):
- ORPHA:457074Congenital nemaline myopathy
rare genetic diseases; rare neurological diseases - ORPHA:607Nemaline myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209059Qualitative or quantitative defects of alpha-actin
rare genetic diseases - ORPHA:209182Qualitative or quantitative defects of nebulin
rare genetic diseases - ORPHA:284790Qualitative or quantitative defects of tropomyosin
rare genetic diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KLHL41 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16905 | ENSG00000239474 | 607701 | 2q31.1 | kelch like family member 41 | 24268659[PMID] |
| ACTA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:129 | ENSG00000143632 | 102610 | 1q42.13 | actin alpha 1, skeletal muscle | |
| NEB | Disease-causing germline mutation(s) in | Assessed | HGNC:7720 | ENSG00000183091 | 161650 | 2q23.3 | nebulin | |
| TPM3 | Disease-causing germline mutation(s) in | Assessed | HGNC:12012 | ENSG00000143549 | 191030 | 1q21.3 | tropomyosin 3 | 18382475[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
29 annotations · validated 2018-07-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003324 | Generalized muscle weakness | |
| HP:0003798 | Nemaline bodies | |
| HP:0006829 | Severe muscular hypotonia | |
| Frequent (79-30%) | ||
| HP:0000765 | Abnormal thorax morphology | |
| HP:0001558 | Decreased fetal movement | |
| HP:0002015 | Dysphagia | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0010628 | Facial palsy | |
| HP:0001371 | Flexion contracture | |
| HP:0001288 | Gait disturbance | |
| HP:0002375 | Hypokinesia | |
| HP:0001265 | Hyporeflexia | |
| HP:0001270 | Motor delay | |
| HP:0005855 | Multiple prenatal fractures | |
| HP:0002058 | Myopathic facies | |
| HP:0001561 | Polyhydramnios | |
| HP:0002878 | Respiratory failure | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| Occasional (29-5%) | ||
| HP:0001284 | Areflexia | |
| HP:0001349 | Facial diplegia | |
| HP:0002705 | High, narrow palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0001622 | Premature birth | |
| Very rare (<4-1%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
| Excluded (0%) | ||
| HP:0001638 | Cardiomyopathy | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 22431881[PMID]_24268659[PMID]_20554445[PMID]_25205138[PMID]_11333380[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171433
- This record as JSON: /data/d/171433.json