Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Synonyms: CMTDID
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | CMTDID |
| fr | Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante D | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, intermediäre, Typ D | = en |
| es | Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante tipo D | = en |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante intermedia, tipo D | = en |
| nl | Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type D | = en |
| pt | Doença de Charcot-Marie-Tooth intermédia autossómica dominante tipo D | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu D | = en |
| cs | Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc, typ D | CMTDID · Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc, typ D |
| uk | Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута, тип D | = en |
| zh | 常染色体显性遗传中间型夏科-马里-图斯病D型 | = en |
| tr | Otozomal dominant orta seviyeli Charcot-Marie-Tooth hastalığı tip D | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607791 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.2 | NTBT | attributed | validated |
| MONDO | 0011909 | E | validated | |
| MeSH | C564333 | E | validated | |
| UMLS | C1843075 | 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 | 10406984[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10406984[PMID] |
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 10406984[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/100046
- This record as JSON: /data/d/100046.json