ORPHA:98915
Synaptic congenital myasthenic syndrome
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Congenital myasthenic syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Synaptic congenital myasthenic syndrome | |
| fr | Syndrome myasthénique congénital synaptique | |
| de | Synaptisches kongenitales myasthenes Syndrom | |
| es | Síndrome miasténico congénito sináptico | |
| it | Sindrome miastenica congenita sinaptica | |
| nl | Synaptisch congenitaal myastheen syndroom | Synaptisch CMS |
| pt | Síndromes miasténicos, congénitos, sinápticos | |
| pl | Wrodzone synaptyczne zespoły miasteniczne | |
| cs | Synaptické vrozené myastenické syndromy | |
| uk | Синаптичні вроджені міастенічні синдроми | |
| zh | 突触性先天性肌无力综合征 | |
| tr | Sinaptik doğumsal miyastenik sendromlar |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603034 | BTNT | validated | |
| OMIM | 616720 | BTNT | validated | |
| ICD-10 | G70.2 | NTBT | attributed | validated |
| ICD-11 | 8C61 | NTBT | attributed | validated |
| UMLS | C5681640 | 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 (1):
- ORPHA:590Congenital myasthenic syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL13A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2190 | ENSG00000197467 | 120350 | 10q22.1 | collagen type XIII alpha 1 chain | 26626625[PMID] |
| COLQ | Disease-causing germline mutation(s) in | Assessed | HGNC:2226 | ENSG00000206561 | 603033 | 3p25.1 | collagen like tail subunit of asymmetric acetylcholinesterase | 20301347[PMID] |
| LAMB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6487 | ENSG00000172037 | 150325 | 3p21.31 | laminin subunit beta 2 | 19251977[PMID]_25792100[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
54 annotations · validated 2018-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0003701 | Proximal muscle weakness | |
| Frequent (79-30%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0003398 | Abnormal synaptic transmission at the neuromuscular junction | |
| HP:0001488 | Bilateral ptosis | |
| HP:0003443 | Decreased size of nerve terminals | |
| HP:0002460 | Distal muscle weakness | |
| HP:0002015 | Dysphagia | |
| HP:0010628 | Facial palsy | |
| HP:0001263 | Global developmental delay | |
| HP:0001265 | Hyporeflexia | |
| HP:0001252 | Hypotonia | |
| HP:0003198 | Myopathy | |
| HP:0000467 | Neck muscle weakness | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0002421 | Poor head control | |
| HP:0002033 | Poor suck | |
| HP:0003436 | Prolonged miniature endplate currents | |
| HP:0000508 | Ptosis | |
| HP:0002098 | Respiratory distress | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0003691 | Scapular winging | |
| HP:0030203 | Unfavorable response of muscle weakness to acetylcholine esterase inhibitors | |
| HP:0002515 | Waddling gait | |
| HP:0001612 | Weak cry | |
| Occasional (29-5%) | ||
| HP:0002815 | Abnormality of the knee | |
| HP:0001284 | Areflexia | |
| HP:0003327 | Axial muscle weakness | |
| HP:0003388 | Easy fatigability | |
| HP:0000218 | High palate | |
| HP:0002791 | Hypoventilation | |
| HP:0005216 | Impaired mastication | |
| HP:0001249 | Intellectual disability | |
| HP:0007941 | Limited extraocular movements | |
| HP:0001324 | Muscle weakness | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0002783 | Recurrent lower respiratory tract infections | |
| HP:0002650 | Scoliosis | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0010535 | Sleep apnea | |
| HP:0030211 | Slow pupillary light response | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002875 | Exertional dyspnea | |
| HP:0002359 | Frequent falls | |
| HP:0030237 | Hand muscle weakness | |
| HP:0006251 | Limited wrist extension | |
| HP:0000303 | Mandibular prognathia | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000207 | Triangular mouth | |
| HP:0003554 | Type 2 muscle fiber atrophy | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 18180250[PMID]_9758617[PMID]_8390325[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98915
- This record as JSON: /data/d/98915.json