ORPHA:447964
Autosomal dominant Charcot-Marie-Tooth disease type 2V
Synonyms: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation · CMT2V · Hereditary adult-onset painful axonal polyneuropathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Elderly
- Status
- active
A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2V | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation · CMT2V · Hereditary adult-onset painful axonal polyneuropathy |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2V | CMT2V · Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de NAGLU · Polyneuropathie axonale héréditaire douloureuse de l'adulte |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2V | CMT2V · Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch NAGLU-Genmutation · Hereditäre adulte schmerzvolle axonale Polyneuropathie |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2V | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen NAGLU · Polineuropatía axonal dolorosa hereditaria de inicio en el adulto · Polineuropatía axonal hereditaria dolorosa de inicio en el adulto |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2V | CMT2V · Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2, da mutazione di NAGLU · Polineuropatia assonale dolorosa ereditaria a esordio nell'età adulta |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2V | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 als gevolg van NAGLU-mutatie · CMT2V · Erfelijke pijnlijke axonale polyneuropathie met volwassen aanvang |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2V | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2V | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 spowodowana mutacją NAGLU · CMT2V · Dziedziczna bolesna polineuropatia aksonalna o początku w wieku dorosłym |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2V | CMT2V · Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2, způsobená mutacemi NAGLU · Hereditární bolestivá axonální polyneuropatie s nástupem v dospělosti · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2V · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2, způsobená mutacemi NAGLU |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2V | Аутосомно-домінантна хвороба Шарко-Марі-Тута 2 типу, зумовлена мутацією NAGLU · CMT2V · Спадкова болюча аксональна полінейропатія, що починається у дорослому віці |
| zh | 常染色体显性轴索型腓骨肌萎缩症2V型 | NAGLU突变导致的常染色体显性Charcot-Marie-Tooth病2型 |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2V | CMT2V · Kalıtsal erişkin-başlangıçlı ağrılı aksonal polinöropati · NAGLU mutasyonuna bağlı otozomal dominant Charcot-Marie-Tooth hastalığı tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616491 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0014665 | E | validated | |
| UMLS | C5569050 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NAGLU | Disease-causing germline mutation(s) in | Assessed | HGNC:7632 | ENSG00000108784 | 609701 | 17q21.2 | N-acetyl-alpha-glucosaminidase | 25818867[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 25818867[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25818867[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447964
- This record as JSON: /data/d/447964.json