Charcot-Marie-Tooth disease type 4B1
Synonyms: CMT4B1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, absence of deep tendon reflexes, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 4B1 | CMT4B1 |
| fr | Maladie de Charcot-Marie-Tooth type 4B1 | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 4B1 | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 4B1 | |
| it | Malattia di Charcot-Marie-Tooth, tipo 4B1 | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 4B1 | = en |
| pt | Doença de Charcot-Marie-Tooth tipo 4B1 | |
| pl | Choroba Charcota, Mariego i Tootha typu 4B1 | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 4B1 | CMT4B1 · Charcot-Marie-Toothova nemoc, typ 4B1 |
| uk | Хвороба Шарко-Марі-Тута, тип 4B1 | = en |
| zh | 腓骨肌萎缩症4B1型 | = en |
| tr | Charcot-Marie-Tooth hastalığı tip 4B1 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601382 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0011066 | E | validated | |
| MeSH | C535420 | E | validated | |
| UMLS | C1832399 | 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 |
|---|---|---|---|---|---|---|---|---|
| MTMR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7450 | ENSG00000087053 | 603557 | 11q21 | myotubularin related protein 2 | 20301641[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 families | Worldwide | Family(ies) | Validated | 20301641[PMID]_DOI: 10.1016/j.nmd.2015.06.356[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301641[PMID]_DOI: 10.1016/j.nmd.2015.06.356[OTHER] |
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/99955
- This record as JSON: /data/d/99955.json