ORPHA:171436
Typical nemaline myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Typical nemaline myopathy | |
| fr | Myopathie némaline typique | |
| de | Nemalin-Myopathie, typische | |
| es | Miopatía nemalínica típica | |
| it | Miopatia nemalinica tipica | |
| nl | Typische nemaline myopathie | |
| pt | Miopatia nemalínica típica | |
| pl | Typowa miopatia nemalinowa | |
| cs | Typická nemalinová myopatie | |
| uk | Типова немалінова міопатія | |
| zh | 典型杆状体肌病 | |
| tr | Tipik nemalin miyopatisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 161800 | BTNT | validated | |
| OMIM | 256030 | BTNT | validated | |
| OMIM | 609285 | BTNT | validated | |
| OMIM | 610687 | BTNT | validated | |
| OMIM | 615731 | BTNT | validated | |
| OMIM | 616165 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.00 | NTBT | index | validated |
| MONDO | 0015737 | E | validated | |
| UMLS | C5680453 | E | validated | |
| GARD | 12822 | 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.
4
Genes
6 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] |
| LMOD3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6649 | ENSG00000163380 | 616112 | 3p14.1 | leiomodin 3 | 25250574[PMID] |
| ACTA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:129 | ENSG00000143632 | 102610 | 1q42.13 | actin alpha 1, skeletal muscle | |
| CFL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1875 | ENSG00000165410 | 601443 | 14q13.1 | cofilin 2 | 17160903[PMID] |
| NEB | Disease-causing germline mutation(s) in | Assessed | HGNC:7720 | ENSG00000183091 | 161650 | 2q23.3 | nebulin | |
| TPM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12011 | ENSG00000198467 | 190990 | 9p13.3 | tropomyosin 2 |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | 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
39 annotations · validated 2018-06-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003327 | Axial muscle weakness | |
| HP:0010628 | Facial palsy | |
| HP:0030198 | Fatigable weakness of distal limb muscles | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0000218 | High palate | |
| HP:0001265 | Hyporeflexia | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0003722 | Neck flexor weakness | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| Occasional (29-5%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001349 | Facial diplegia | |
| HP:0030196 | Fatigable weakness of respiratory muscles | |
| HP:0030200 | Fatiguable weakness of proximal limb muscles | |
| HP:0011968 | Feeding difficulties | |
| HP:0001371 | Flexion contracture | |
| HP:0002857 | Genu valgum | |
| HP:0002970 | Genu varum | |
| HP:0002827 | Hip dislocation | |
| HP:0003307 | Hyperlordosis | |
| HP:0002375 | Hypokinesia | |
| HP:0000347 | Micrognathia | |
| HP:0003198 | Myopathy | |
| HP:0000774 | Narrow chest | |
| HP:0000275 | Narrow face | |
| HP:0003798 | Nemaline bodies | |
| HP:0002877 | Nocturnal hypoventilation | |
| HP:0000767 | Pectus excavatum | |
| HP:0001561 | Polyhydramnios | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0003306 | Spinal rigidity | |
| HP:0002515 | Waddling gait | |
| Very rare (<4-1%) | ||
| HP:0002808 | Kyphosis | |
Annotation source: 6733612[PMID]_8789770[PMID]_9185179[PMID]_11333380[PMID]_23746549[PMID]_25250574[PMID]_12207937[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171436
- This record as JSON: /data/d/171436.json