Charcot-Marie-Tooth disease type 4J
Synonyms: CMT4J
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Childhood, Infancy
- Status
- active
A form of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, demyelinating with axonal loss sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 4J | CMT4J |
| fr | Maladie de Charcot-Marie-Tooth type 4J | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 4J | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 4J | = en |
| it | Malattia di Charcot-Marie-Tooth, tipo 4J | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 4J | = en |
| pt | Doença de Charcot-Marie-Tooth tipo 4J | |
| pl | Choroba Charcota, Mariego i Tootha typu 4J | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 4J | CMT4J · Charcot-Marie-Toothova nemoc, typ 4J |
| uk | Хвороба Шарко-Марі-Тута, тип 4J | = en |
| zh | Charcot-Marie-Tooth病4J型 | = en |
| tr | Charcot-Marie-Tooth hastalığı tip 4J | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611228 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0012640 | E | validated | |
| MeSH | C566984 | E | validated | |
| UMLS | C1970011 | 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 |
|---|---|---|---|---|---|---|---|---|
| FIG4 | Disease-causing germline mutation(s) in | Assessed | HGNC:16873 | ENSG00000112367 | 609390 | 6q21 | FIG4 phosphoinositide 5-phosphatase | 24228289[PMID]_20301641[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 21705420[PMID]_23489662[PMID]_24878229[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21705420[PMID]_23489662[PMID]_24878229[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/139515
- This record as JSON: /data/d/139515.json