Autosomal dominant centronuclear myopathy
Synonyms: AD-CNM
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant centronuclear myopathy | AD-CNM |
| fr | Myopathie centronucléaire autosomique dominante | AD-CNM · MCN-AD |
| de | Myopathie, zentronukleäre, autosomal-dominante | = en |
| es | Miopatía centronuclear autosómica dominante | = en |
| it | Miopatia centronucleare autosomica dominante | = en |
| nl | Autosomaal dominante centronucleaire myopathie | = en |
| pt | Miopatia centronuclear autossómica dominante | = en |
| pl | Autosomalna dominująca miopatia z ośrodkowo położonymi jądrami | = en |
| cs | Autozomálně dominantní forma centronukleární myopatie | = en |
| uk | Аутосомно-домінантна центронуклеарна міопатія | = en |
| zh | 常染色体显性遗传中央核性肌病 | = en |
| tr | Otozomal dominant santronükleer miyopati | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 160150 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.01 | NTBT | index | validated |
| MONDO | 0008048 | E | validated | |
| UMLS | C1834558 | E | validated | |
| GARD | 12719 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:595Centronuclear myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTMR14 | Candidate gene tested in | Not yet assessed | HGNC:26190 | ENSG00000163719 | 611089 | 3p25.3 | myotubularin related protein 14 | 17008356[PMID] |
| MYF6 | Candidate gene tested in | Not yet assessed | HGNC:7566 | ENSG00000111046 | 159991 | 12q21.31 | myogenic factor 6 | |
| RYR1 | Candidate gene tested in | Not yet assessed | HGNC:10483 | ENSG00000196218 | 180901 | 19q13.2 | ryanodine receptor 1 | |
| BIN1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1052 | ENSG00000136717 | 601248 | 2q14.3 | bridging integrator 1 | 25260562[PMID] |
| DNM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2974 | ENSG00000079805 | 602378 | 19p13.2 | dynamin 2 | 16227997[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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.
HPO phenotypes
30 annotations · validated 2018-07-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003687 | Centrally nucleated skeletal muscle fibers | |
| Frequent (79-30%) | ||
| HP:0001436 | Abnormality of the foot musculature | |
| HP:0001558 | Decreased fetal movement | |
| HP:0002194 | Delayed gross motor development | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001520 | Large for gestational age | |
| HP:0004488 | Macrocephaly at birth | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0010546 | Muscle fibrillation | |
| HP:0001561 | Polyhydramnios | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0000508 | Ptosis | |
| HP:0005268 | Spontaneous abortion | |
| HP:0000883 | Thin ribs | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| Occasional (29-5%) | ||
| HP:0002522 | Areflexia of lower limbs | |
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0001048 | Cavernous hemangioma | |
| HP:0000028 | Cryptorchidism | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0000544 | External ophthalmoplegia | |
| HP:0012768 | Neonatal asphyxia | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0002021 | Pyloric stenosis | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0000020 | Urinary incontinence | |
| Very rare (<4-1%) | ||
| HP:0002047 | Malignant hyperthermia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 18817572[PMID]_16227997[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169189
- This record as JSON: /data/d/169189.json