ORPHA:98913
Postsynaptic 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 | Postsynaptic congenital myasthenic syndrome | |
| fr | Syndrome myasthénique congénital post-synaptique | |
| de | Postsynaptisches kongenitales myasthenes Syndrom | |
| es | Síndrome miasténico congénito postsináptico | |
| it | Sindrome miastenica congenita postsinaptica | |
| nl | Postsynaptisch congenitaal myastheen syndroom | |
| pt | Síndromes miasténicos, congénitos, pós-sinápticos | |
| pl | Wrodzone postsynaptyczne zespoły miasteniczne | |
| cs | Postsynaptické vrozené myastenické syndromy | |
| uk | Постсинаптичні вроджені міастенічні синдроми | |
| zh | 突触后性先天性肌无力综合征 | |
| tr | Postsinaptik doğumsal miyastenik sendromlar |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254300 | BTNT | validated | |
| OMIM | 601462 | BTNT | validated | |
| OMIM | 605809 | BTNT | validated | |
| OMIM | 608930 | BTNT | validated | |
| OMIM | 608931 | BTNT | validated | |
| OMIM | 614198 | BTNT | validated | |
| OMIM | 615120 | BTNT | validated | |
| OMIM | 616304 | BTNT | validated | |
| OMIM | 616313 | BTNT | validated | |
| OMIM | 616314 | BTNT | validated | |
| OMIM | 616321 | BTNT | validated | |
| OMIM | 616322 | BTNT | validated | |
| OMIM | 616323 | BTNT | validated | |
| OMIM | 616324 | BTNT | validated | |
| OMIM | 616325 | BTNT | validated | |
| OMIM | 616326 | BTNT | validated | |
| ICD-10 | G70.2 | NTBT | attributed | validated |
| ICD-11 | 8C61 | NTBT | index | validated |
| MONDO | 0020344 | E | validated | |
| UMLS | C0751883 | 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 (2):
- ORPHA:590Congenital myasthenic syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:98738Neurological muscular channelopathy due to a genetic sodium channel defect
rare genetic diseases; rare neurological diseases
Children (6):
- ORPHA:716881Congenital myasthenic syndrome due to a sodium channel 1.4 defect
- ORPHA:719880Congenital myasthenic syndrome due to acetylcholine receptor clustering defect
- ORPHA:719914Congenital myasthenic syndrome due to defective nuclear membrane protein
- ORPHA:716825Congenital myasthenic syndrome due to defects in endplate development and maintenance
- ORPHA:716742Congenital myasthenic syndrome with kinetic defect
- ORPHA:716816Congenital myasthenic syndrome with primary acetylcholine receptor deficiency
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
37 annotations · validated 2018-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0410011 | Abnormality of masticatory muscle | |
| HP:0001446 | Abnormality of the musculature of the upper limbs | |
| HP:0003402 | Decreased miniature endplate potentials | |
| HP:0003443 | Decreased size of nerve terminals | |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003388 | Easy fatigability | |
| HP:0010628 | Facial palsy | |
| HP:0030199 | Fatigable weakness of neck muscles | |
| HP:0000218 | High palate | |
| HP:0001324 | Muscle weakness | |
| HP:0003722 | Neck flexor weakness | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000508 | Ptosis | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0003547 | Shoulder girdle muscle weakness | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| HP:0003484 | Upper limb muscle weakness | |
| HP:0009005 | Weakness of the intrinsic hand muscles | |
| Occasional (29-5%) | ||
| HP:0031374 | Ankle weakness | |
| HP:0000961 | Cyanosis | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000651 | Diplopia | |
| HP:0002329 | Drowsiness | |
| HP:0002875 | Exertional dyspnea | |
| HP:0030196 | Fatigable weakness of respiratory muscles | |
| HP:0012515 | Hip flexor weakness | |
| HP:0012764 | Orthopnea | |
| HP:0002792 | Reduced vital capacity | |
| HP:0002878 | Respiratory failure | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0002650 | Scoliosis | |
| HP:0005659 | Thoracic kyphoscoliosis | |
| HP:0031108 | Triceps weakness | |
| HP:0009077 | Weakness of long finger extensor muscles | |
Annotation source: 6287911[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98913
- This record as JSON: /data/d/98913.json