Charcot-Marie-Tooth disease type 4B3
Synonyms: CMT4B3 · Charcot-Marie-Tooth disease with focally folded myelin
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A form of Charcot-Marie-Tooth disease type 4 characterized by a childhood onset of slowly progressing, demyelinating or axonal sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and absence of deep tendon reflexes). In some patients microcephaly, intellectual disability, and multiple cranial neuropathies have been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 4B3 | CMT4B3 · Charcot-Marie-Tooth disease with focally folded myelin |
| fr | Maladie de Charcot-Marie-Tooth type 4B3 | Maladie de Charcot-Marie-Tooth avec repli localisé de la myéline |
| de | Charcot-Marie-Tooth-Krankheit Typ 4B3 | CMT4B3 · Charcot-Marie-Tooth-Krankheit mit fokal gefaltetem Myelin |
| es | Enfermedad de Charcot-Marie-Tooth tipo 4B3 | CMT4B3 · Enfermedad de Charcot-Marie-Tooth con focos de mielina plegada |
| it | Malattia di Charcot-Marie-Tooth, tipo 4B3 | CMT4B3 · Malattia di Charcot-Marie-Tooth con ripiegamento focale della mielina |
| nl | Ziekte van Charcot-Marie-Tooth type 4B3 | CMT4B3 · Ziekte van Charcot-Marie-Tooth met focaal gevouwen myeline |
| pt | Doença de Charcot-Marie-Tooth tipo 4B3 | |
| pl | Choroba Charcota, Mariego i Tootha typu 4B3 | Choroba Charcota, Mariego i Tootha z ogniskowym pofałdowaniem mieliny · CMT4B3 |
| cs | Charcotova-Marieova-Toothova nemoc, typ 4B3 | CMT4B3 · Charcotova-Marieova-Toothova nemoc s fokálně poskládaným myelinem · Charcot-Marie-Toothova nemoc, typ 4B3 · Charcot-Marie-Toothova nemoc s fokálně poskládaným myelinem |
| uk | Хвороба Шарко-Марі-Тута, тип 4B3 | Хвороба Шарко-Марі-Тута з фокальною складчастістю мієліну · CMT4B3 |
| zh | 夏科-马里-图斯病4B3型 | 夏科-马里-图斯病伴局灶髓鞘折叠障碍 |
| tr | Charcot-Marie-Tooth hastalığı tipi 4B3 | CMT4B3 · Fokal katlanmış miyeline bağlı Charcot-Marie-Tooth hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615284 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0014117 | E | validated | |
| UMLS | C3695063 | 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:64749Charcot-Marie-Tooth disease type 4
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SBF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10542 | ENSG00000100241 | 603560 | 22q13.33 | SET binding factor 1 | 23749797[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 23749797[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363981
- This record as JSON: /data/d/363981.json