ORPHA:169186
Autosomal recessive centronuclear myopathy
Synonyms: AR-CNM
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive centronuclear myopathy | AR-CNM |
| fr | Myopathie centronucléaire autosomique récessive | AR-CNM · MCN-AR |
| de | Myopathie, zentronukleäre, autosomal-rezessive | = en |
| es | Miopatía centronuclear autosómica recesiva | = en |
| it | Miopatia centronucleare autosomica recessiva | = en |
| nl | Autosomaal recessieve centronucleaire myopathie | = en |
| pt | Miopatia centronuclear autossómica recessiva | = en |
| pl | Autosomalna recesywna miopatia z ośrodkowo położonymi jądrami | = en |
| cs | Autozomálně recesivní forma centronukleární myopatie | = en |
| uk | Аутосомно-рецесивна центронуклеарна міопатія | = en |
| zh | 常染色体隐性遗传中央核性肌病 | = en |
| tr | Otozomal resesif santronükleer miyopati | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 255200 | BTNT | validated | |
| OMIM | 615959 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.01 | NTBT | index | validated |
| MONDO | 0015705 | E | validated | |
| MeSH | C562934 | E | validated | |
| UMLS | C0410204 | E | validated | |
| GARD | 12718 | 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:595Centronuclear myopathy
rare genetic diseases; rare neurological diseases - ORPHA:98742Neurological muscular channelopathy due to a genetic ryanodine receptor defect
rare genetic diseases; rare neurological diseases - ORPHA:209053Qualitative or quantitative defects of titin
rare genetic diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BIN1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1052 | ENSG00000136717 | 601248 | 2q14.3 | bridging integrator 1 | 17676042[PMID] |
| RYR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10483 | ENSG00000196218 | 180901 | 19q13.2 | ryanodine receptor 1 | 20839240[PMID] |
| SPEG | Disease-causing germline mutation(s) in | Assessed | HGNC:16901 | ENSG00000072195 | 615950 | 2q35 | striated muscle enriched protein kinase | 25087613[PMID] |
| TTN | Disease-causing germline mutation(s) in | Assessed | HGNC:12403 | ENSG00000155657 | 188840 | 2q31.2 | titin | 23975875[PMID] |
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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.
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HPO phenotypes
36 annotations · validated 2018-07-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003551 | Difficulty climbing stairs | |
| HP:0009046 | Difficulty running | |
| HP:0010628 | Facial palsy | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0001290 | Generalized hypotonia | |
| HP:0003391 | Gowers sign | |
| HP:0000218 | High palate | |
| HP:0001270 | Motor delay | |
| HP:0003323 | Progressive muscle weakness | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000278 | Retrognathia | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0001284 | Areflexia | |
| HP:0000193 | Bifid uvula | |
| HP:0003687 | Centrally nucleated skeletal muscle fibers | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001260 | Dysarthria | |
| HP:0001618 | Dysphonia | |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | |
| HP:0001349 | Facial diplegia | |
| HP:0003273 | Hip contracture | |
| HP:0003307 | Hyperlordosis | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0000276 | Long face | |
| HP:0100807 | Long fingers | |
| HP:0000160 | Narrow mouth | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0001761 | Pes cavus | |
| HP:0000411 | Protruding ear | |
| HP:0003691 | Scapular winging | |
| HP:0001762 | Talipes equinovarus | |
| HP:0003803 | Type 1 muscle fiber predominance | |
Annotation source: 20142620[PMID]_25087613[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169186
- This record as JSON: /data/d/169186.json