ORPHA:353327
Congenital myasthenic syndrome with glycosylation defect
- 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 | Congenital myasthenic syndrome with glycosylation defect | |
| fr | Syndrome myasthénique congénital par défaut de glycosylation | |
| de | Kongenitales myasthenes Syndrom mit Glykosylierungsstörung | |
| es | Síndrome miasténico congénito con defectos de la glicosilación | |
| it | Sindrome miastenica congenita con disturbo della glicosilazione | |
| nl | Congenitaal myastheen syndroom met defect van glycosylering | CMS met defect van glycosylering |
| pt | Síndromes miasténicas congénitas com defeitos da glicosilação | |
| pl | Wrodzone zespoły miasteniczne z defektem glikolyzacji | |
| cs | Vrozené myastenické syndromy s poruchou glykosylace | |
| uk | Вроджені міастенічні синдроми з дефектом глікозилювання | |
| zh | 先天性肌无力综合征伴糖基化缺陷 | |
| tr | Glikozilasyon defekti ile seyreden doğumsal miyastenik sendromlar |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610542 | BTNT | validated | |
| OMIM | 614750 | BTNT | validated | |
| OMIM | 616227 | BTNT | validated | |
| OMIM | 616228 | BTNT | validated | |
| ICD-10 | G70.2 | NTBT | attributed | validated |
| ICD-11 | 8C61 | NTBT | index | validated |
| UMLS | C5680989 | 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 (3):
- ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:716913Congenital myasthenic syndrome associated with ubiquitously expressed proteins
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:309347Disorder of protein N-glycosylation
rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALG14 | Disease-causing germline mutation(s) in | Assessed | HGNC:28287 | ENSG00000172339 | 612866 | 1p21.3 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | 23404334[PMID] |
| ALG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:23159 | ENSG00000119523 | 607905 | 9q22.33 | ALG2 alpha-1,3/1,6-mannosyltransferase | 23404334[PMID] |
| DPAGT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2995 | ENSG00000172269 | 191350 | 11q23.3 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | 23404334[PMID]_22742743[PMID] |
| GFPT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4241 | ENSG00000198380 | 138292 | 2p13.3 | glutamine--fructose-6-phosphate transaminase 1 | 23404334[PMID]_21310273[PMID] |
| GMPPB | Disease-causing germline mutation(s) in | Assessed | HGNC:22932 | ENSG00000173540 | 615320 | 3p21.31 | GDP-mannose pyrophosphorylase B | 26133662[PMID] |
5
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.
6
HPO phenotypes
36 annotations · validated 2018-06-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030191 | Abnormal peripheral nervous system synaptic transmission | |
| HP:0001284 | Areflexia | |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | |
| HP:0003473 | Fatigable weakness | |
| HP:0030202 | Favorable response of weakness to acetylcholine esterase inhibitors | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000218 | High palate | |
| HP:0030205 | Increased jitter at single fibre EMG | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0001270 | Motor delay | |
| HP:0100301 | Muscle fiber tubular inclusions | |
| HP:0003198 | Myopathy | |
| HP:0001763 | Pes planus | |
| HP:0003701 | Proximal muscle weakness | |
| Occasional (29-5%) | ||
| HP:0003551 | Difficulty climbing stairs | |
| HP:0009046 | Difficulty running | |
| HP:0003388 | Easy fatigability | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0010628 | Facial palsy | |
| HP:0001371 | Flexion contracture | |
| HP:0002359 | Frequent falls | |
| HP:0001288 | Gait disturbance | |
| HP:0009028 | Generalized weakness of limb muscles | |
| HP:0003391 | Gowers sign | |
| HP:0001382 | Joint hypermobility | |
| HP:0006380 | Knee flexion contracture | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0003394 | Muscle spasm | |
| HP:0002421 | Poor head control | |
| HP:0000508 | Ptosis | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0003691 | Scapular winging | |
| HP:0002650 | Scoliosis | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| HP:0002515 | Waddling gait | |
| Very rare (<4-1%) | ||
| HP:0002460 | Distal muscle weakness | |
Annotation source: 8664562[PMID]_12467753[PMID]_16917026[PMID]_22742743[PMID]_23404334[PMID]_24461433[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/353327
- This record as JSON: /data/d/353327.json