Autosomal dominant Charcot-Marie-Tooth disease type 2E
Synonyms: CMT2E
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2E | CMT2E |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2E | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2E | = en |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2E | |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2E | = en |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2E | = en |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2E | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2E | = en |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2E | CMT2E · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2E |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2Е | = en |
| zh | 常染色体显性遗传腓骨肌萎缩症2E型 | = en |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2E | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607684 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0011894 | E | validated | |
| MeSH | C537994 | E | validated | |
| UMLS | C1843225 | 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:64746Autosomal dominant Charcot-Marie-Tooth disease type 2
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NEFL | Disease-causing germline mutation(s) in | Assessed | HGNC:7739 | ENSG00000277586 | 162280 | 8p21.2 | neurofilament light chain | 20301462[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_20301366[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
24 annotations · validated 2021-03-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0007220 | Demyelinating motor neuropathy | |
| HP:0011402 | Demyelinating sensory neuropathy | |
| HP:0001288 | Gait disturbance | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0003484 | Upper limb muscle weakness | |
| Frequent (79-30%) | ||
| HP:0012896 | Abnormal motor evoked potentials | |
| HP:0200101 | Decreased/absent ankle reflexes | |
| HP:0009046 | Difficulty running | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0030235 | Extremely elevated creatine kinase | |
| HP:0001265 | Hyporeflexia | |
| HP:0001761 | Pes cavus | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001884 | Talipes calcaneovalgus | |
| Occasional (29-5%) | ||
| HP:0002540 | Inability to walk | |
| HP:0001270 | Motor delay | |
| HP:0003376 | Steppage gait | |
| Very rare (<4-1%) | ||
| HP:0000762 | Decreased nerve conduction velocity | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20301532[PMID]_24887401[PMID]_31574566[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99939
- This record as JSON: /data/d/99939.json