Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Synonyms: RI-CMT type B
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive intermediate Charcot-Marie-Tooth disease type B | RI-CMT type B |
| fr | Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type B | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre, Typ B | RI-CMT Typ B |
| es | Enfermedad de Charcot-Marie-Tooth intermedia autosómica recesiva tipo B | RI-CMT tipo B |
| it | Malattia di Charcot-Marie-Tooth autosomica recessiva intermedia tipo B | RI-CMT, tipo B |
| nl | Autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type B | = en |
| pt | Doença de Charcot-Marie-Tooth intermédia autossómica recessiva tipo B | = en |
| pl | Autosomalna recesywna choroba Charcota, Mariego i Tootha typu B | = en |
| cs | Autozomálně recesivní středně pokročilá Charcotova-Marieova-Toothova nemoc, typ B | RI-CMT typ B · Autozomálně recesivní středně pokročilá Charcot-Marie-Toothova nemoc, typ B |
| uk | Аутосомно-рецесивна помірно виражена хвороба Шарко-Марі-Тута, тип В | RI-CMT тип B |
| zh | 常染色体隐性遗传性中间型腓骨肌萎缩症B型 | RI-CMT B型 |
| tr | Otozomal resesif geçişli Charcot-Marie-Tooth hastalığı tip B | RI-CMT B tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613641 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.2 | NTBT | index | validated |
| MONDO | 0013338 | E | validated | |
| UMLS | C4750786 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:268337Autosomal recessive intermediate Charcot-Marie-Tooth disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6215 | ENSG00000065427 | 601421 | 16q23.1 | lysyl-tRNA synthetase 1 | 20920668[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 20920668[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20920668[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254334
- This record as JSON: /data/d/254334.json