ORPHA:98914
Presynaptic congenital myasthenic syndrome
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, 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 | Presynaptic congenital myasthenic syndrome | |
| fr | Syndrome myasthénique congénital pré-synaptique | |
| de | Präsynaptisches kongenitales myasthenes Syndrom | |
| es | Síndromes miasténicos congénitos presinápticos | |
| it | Sindrome miastenica congenita presinaptica | |
| nl | Presynaptisch congenitaal myastheen syndroom | |
| pt | Síndromes miasténicos, congénitos, pré-sinápticos | |
| pl | Wrodzone presynaptyczne zespoły miasteniczne | |
| cs | Presynaptické vrozené myastenické syndromy | |
| uk | Пресинаптичні вроджені міастенічні синдроми | |
| zh | 突触前性先天性肌无力综合征 | |
| tr | Presinaptik doğumsal miyastenik sendromlar |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254210 | BTNT | validated | |
| OMIM | 615120 | BTNT | validated | |
| OMIM | 616040 | BTNT | validated | |
| OMIM | 616224 | BTNT | validated | |
| OMIM | 616330 | BTNT | validated | |
| OMIM | 617143 | BTNT | validated | |
| OMIM | 617239 | BTNT | validated | |
| OMIM | 618198 | BTNT | validated | |
| OMIM | 618323 | BTNT | validated | |
| OMIM | 619461 | BTNT | validated | |
| OMIM | 621455 | BTNT | validated | |
| ICD-10 | G70.2 | NTBT | attributed | validated |
| ICD-11 | 8C61 | NTBT | index | validated |
| UMLS | C0751884 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
Children (4):
- ORPHA:716889Congenital myasthenic syndrome due to defective axonal transport
- ORPHA:719921Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction
- ORPHA:716899Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis
- ORPHA:716893Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine
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
68 annotations · validated 2018-06-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002015 | Dysphagia | |
| HP:0003473 | Fatigable weakness | |
| HP:0011968 | Feeding difficulties | |
| HP:0004661 | Frontalis muscle weakness | |
| HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | |
| HP:0000467 | Neck muscle weakness | |
| HP:0002033 | Poor suck | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0000508 | Ptosis | |
| HP:0002882 | Sudden episodic apnea | |
| Frequent (79-30%) | ||
| HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0001251 | Ataxia | |
| HP:0001283 | Bulbar palsy | |
| HP:0010536 | Central sleep apnea | |
| HP:0030842 | Choking episodes | |
| HP:0000961 | Cyanosis | |
| HP:0001558 | Decreased fetal movement | |
| HP:0100285 | EMG: impaired neuromuscular transmission | |
| HP:0003388 | Easy fatigability | |
| HP:0004885 | Episodic respiratory distress | |
| HP:0001288 | Gait disturbance | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0001611 | Hypernasal speech | |
| HP:0001249 | Intellectual disability | |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0011469 | Nasal regurgitation | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0008443 | Spinal deformities | |
| Occasional (29-5%) | ||
| HP:0001284 | Areflexia | |
| HP:0003693 | Distal amyotrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0001618 | Dysphonia | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0000218 | High palate | |
| HP:0001252 | Hypotonia | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0000276 | Long face | |
| HP:0001270 | Motor delay | |
| HP:0012801 | Narrow jaw | |
| HP:0001761 | Pes cavus | |
| HP:0002421 | Poor head control | |
| HP:0001250 | Seizure | |
| HP:0003306 | Spinal rigidity | |
| HP:0010307 | Stridor | |
| HP:0030051 | Tip-toe gait | |
| HP:0002515 | Waddling gait | |
| HP:0001612 | Weak cry | |
| Very rare (<4-1%) | ||
| HP:0001374 | Congenital hip dislocation | |
| HP:0000651 | Diplopia | |
| HP:0002392 | EEG with polyspike wave complexes | |
| HP:0000565 | Esotropia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001265 | Hyporeflexia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000369 | Low-set ears | |
| HP:0000308 | Microretrognathia | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0000639 | Nystagmus | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000768 | Pectus carinatum | |
| HP:0001561 | Polyhydramnios | |
| HP:0005943 | Respiratory arrest | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0025401 | Staring gaze | |
| Excluded (0%) | ||
| HP:0030208 | Acetylcholine receptor antibody positivity | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 22353287[PMID]_15145336[PMID]_18707767[PMID]_25381298[PMID]_11172068[PMID]_25192047[PMID]_19631309[PMID]_26626625[PMID]_27569547[PMID]_27590285[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98914
- This record as JSON: /data/d/98914.json