ORPHA:596
X-linked centronuclear myopathy
Synonyms: X-linked myotubular myopathy · XLCNM · XLMTM
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked centronuclear myopathy | X-linked myotubular myopathy · XLCNM · XLMTM |
| fr | Myopathie centronucléaire liée à l'X | Myopathie congénitale myotubulaire liée à l'X · XLCNM · XLMTM |
| de | Myopathie, zentronukleäre, X-chromosomale | Myopathie, myotubuläre, X-chromosomale · XLCNM · XLMTM |
| es | Miopatía centronuclear ligada al cromosoma X | XLCNM · XLMTM · Miopatía miotubular ligada al cromosoma X |
| it | Miopatia centronucleare legata all'X | Miopatia miotubulare · XLCNM · XLMTM |
| nl | X-gebonden centronucleaire myopathie | X-gebonden myotubulaire myopathie · XLCNM · XLMTM |
| pt | Miopatia centronuclear ligada ao X | Miopatia miotubular ligada ao X · XLCNM · XLMTM |
| pl | Miopatia z centralnie ułożonymi jądrami sprzężona z płcią | XLCNM · XLMTM · Miopatia miotubularna sprzężona z płcią |
| cs | X-vázaná forma centronukleární myopatie | Myotubulární myopatie · XLCNM · XLMTM |
| uk | Х-зчеплена центронуклеарна міопатія | XLCNM · Х-зчеплена міотубулярна міопатія · XLMTM |
| zh | X连锁中央核性肌病 | X连锁肌小管肌病 |
| tr | X'e bağlı santronükleer miyopati | XLCNM · XLMTM · X'e bağlı miyotübüler miyopati |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 310400 | E | validated | |
| ICD-10 | G71.2 | NTBT | inclusion | validated |
| ICD-11 | 8C72.01 | NTBT | index | validated |
| MONDO | 0010683 | E | validated | |
| UMLS | C0410203 | E | validated | |
| GARD | 11925 | 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 (4):
- ORPHA:595Centronuclear myopathy
rare genetic diseases; rare neurological diseases - ORPHA:207110Qualitative or quantitative defects of myotubularin
rare genetic diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTM1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7448 | ENSG00000171100 | 300415 | Xq28 | myotubularin 1 | 20301605[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | France | Value and class | Validated | 18817572[PMID]_[EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2015[OTHER] |
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
24 annotations · validated 2021-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030917 | Low APGAR score | |
| HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers | |
| Frequent (79-30%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0003687 | Centrally nucleated skeletal muscle fibers | |
| HP:0001558 | Decreased fetal movement | |
| HP:0030192 | Fatigable weakness of bulbar muscles | |
| HP:0030195 | Fatigable weakness of swallowing muscles | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0031238 | Necklace skeletal muscle fibers | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0002090 | Pneumonia | |
| HP:0001561 | Polyhydramnios | |
| HP:0002033 | Poor suck | |
| HP:0001622 | Premature birth | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002098 | Respiratory distress | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0030319 | Weakness of facial musculature | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000268 | Dolichocephaly | |
| HP:0000218 | High palate | |
| HP:0002540 | Inability to walk | |
| HP:0000276 | Long face | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 31484632[PMID]_31578728[PMID]_26823526[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/596
- This record as JSON: /data/d/596.json