Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Synonyms: Autosomal dominant intermediate CMT disease with neuropathic pain
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain | Autosomal dominant intermediate CMT disease with neuropathic pain |
| fr | Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante avec douleurs neuropathiques | |
| de | Charcot-Marie-Tooth-Krankheit, dominant-intermediäre, mit neuropathischem Schmerz | |
| es | Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante con dolor neuropático | |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante intermedia con dolore neuropatico | |
| nl | Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth met neuropathische pijn | |
| pt | Doença de Charcot-Marie-Tooth intermédia autossómica dominante com dor neuropática | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha z bólem neuropatycznym | = en |
| cs | Autozomálně dominantní středně pokročilá Charcotova-Marieova-Toothova nemoc s neuropatickou bolestí | Autozomálně dominantní středně pokročilá Charcot-Marie-Toothova nemoc s neuropatickou bolestí |
| uk | Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута з невропатичним болем | Аутосомно-домінантна проміжна хвороба CMT з невропатичним болем |
| zh | 常染色体显性遗传中间型夏科-马里-图斯症伴神经性疼痛 | = en |
| tr | Nöropatik ağrı ile seyreden otozomal dominant orta seviyeli Charcot-Marie-Tooth hastalığı | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.2 | NTBT | attributed | validated |
| MONDO | 0017937 | E | validated | |
| UMLS | C4755257 | 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:90114Autosomal dominant intermediate Charcot-Marie-Tooth disease
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 | 22704856[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 22704856[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/324585
- This record as JSON: /data/d/324585.json