ORPHA:171430
Severe congenital nemaline myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe congenital nemaline myopathy | |
| fr | Myopathie congénitale sévère à némaline | |
| de | Nemalin-Myopathie, kongenitale schwere | |
| es | Miopatía nemalínica congénita grave | |
| it | Miopatia nemalinica congenita grave | |
| nl | Ernstige congenitale nemaline myopathie | Ernstige aangeboren nemaline myopathie |
| pt | Miopatia nemalínica congénita grave | |
| pl | Ciężka wrodzona miopatia nemalinowa | |
| cs | Těžká vrozená nemalinová myopatie | |
| uk | Важка вроджена немалінова міопатія | |
| zh | 严重先天性杆状体肌病 | |
| tr | Ağır doğumsal 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 | 615348 | 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 | 0015735 | E | validated | |
| UMLS | C5680451 | E | validated | |
| GARD | 12821 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- 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
No children.
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KLHL40 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30372 | ENSG00000157119 | 615340 | 3p22.1 | kelch like family member 40 | 23746549[PMID] |
| 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 | |
| NEB | Disease-causing germline mutation(s) in | Assessed | HGNC:7720 | ENSG00000183091 | 161650 | 2q23.3 | nebulin |
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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
43 annotations · validated 2025-07-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000765 | Abnormal thorax morphology | |
| HP:0003327 | Axial muscle weakness | |
| HP:0001623 | Breech presentation | |
| HP:0001558 | Decreased fetal movement | |
| HP:0002015 | Dysphagia | |
| HP:0010628 | Facial palsy | |
| HP:0001371 | Flexion contracture | |
| HP:0002375 | Hypokinesia | |
| HP:0009025 | Increased connective tissue | |
| HP:0001270 | Motor delay | |
| HP:0005855 | Multiple prenatal fractures | |
| HP:0003798 | Nemaline bodies | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001561 | Polyhydramnios | |
| HP:0002098 | Respiratory distress | |
| HP:0002878 | Respiratory failure | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| Occasional (29-5%) | ||
| HP:0000775 | Abnormality of the diaphragm | |
| HP:0001181 | Adducted thumb | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0001695 | Cardiac arrest | |
| HP:0001640 | Cardiomegaly | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0007514 | Edema of the dorsum of hands | |
| HP:0001349 | Facial diplegia | |
| HP:0002527 | Falls | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001288 | Gait disturbance | |
| HP:0000047 | Hypospadias | |
| HP:0000239 | Large fontanelles | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000054 | Micropenis | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0001622 | Premature birth | |
| HP:0000508 | Ptosis | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0002650 | Scoliosis | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000883 | Thin ribs | |
| HP:0001337 | Tremor | |
Annotation source: 36960434[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171430
- This record as JSON: /data/d/171430.json