Charcot-Marie-Tooth disease type 1B
Synonyms: CMT1B
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1, caused by mutations in the <i>MPZ</i> gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome, or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 1B | CMT1B |
| fr | Maladie de Charcot-Marie-Tooth type 1B | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 1B | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 1B | |
| it | Malattia di Charcot-Marie-Tooth, tipo 1B | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 1B | = en |
| pt | Doença de Charcot-Marie-Tooth tipo 1B | |
| pl | Choroba Charcota, Mariego i Tootha typu 1B | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 1B | CMT1B · Charcot-Marie-Toothova nemoc, typ 1B |
| uk | Хвороба Шарко-Марі-Тута, тип 1B | = en |
| zh | 夏科-马里-图斯病1B型 | = en |
| tr | Charcot-Marie-Tooth hastalığı tip 1B | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118200 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0007307 | E | validated | |
| UMLS | C0270912 | 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:65753Charcot-Marie-Tooth disease type 1
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MPZ | Disease-causing germline mutation(s) in | Assessed | HGNC:7225 | ENSG00000158887 | 159440 | 1q23.3 | myelin protein zero | 20301384[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Validated | ORPHANET_20301384[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
14 annotations · validated 2018-07-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001324 | Muscle weakness | |
| Frequent (79-30%) | ||
| HP:0000615 | Abnormal pupil morphology | |
| HP:0001284 | Areflexia | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0000365 | Hearing impairment | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0003469 | Peripheral dysmyelination | |
| HP:0002650 | Scoliosis | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| Occasional (29-5%) | ||
| HP:0001270 | Motor delay | |
| HP:0003474 | Somatic sensory dysfunction | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 12477701[PMID]_14711881[PMID]_18337304[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101082
- This record as JSON: /data/d/101082.json