ORPHA:435387
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Synonyms: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation · CMT2 due to VCP mutation · CMT2Y
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Childhood
- Status
- active
A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation · CMT2 due to VCP mutation · CMT2Y |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2Y | CMT2 due à une mutation de VCP · CMT2Y · Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de VCP |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2Y | CMT2 durch VCP-Genmutation · CMT2Y · Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch VCP-Genmutation |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2Y | CMT2 por una mutación en el gen VCP · CMT2Y · Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen VCP |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2, da mutazione di VCP | CMT2 da mutazione di VCP |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2Y | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door VCP-mutatie · CMT2 door VCP-mutatie · CMT2Y |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2Y | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2 por mutações VCP |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 spowodowana mutacją VCP | CMT2 spowodowana mutacją VCP |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2Y | CMT2 způsobená mutací VCP · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2Y |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2Y | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2, зумовлена мутацією VCP · CMT2 через мутацію VCP · CMT2Y |
| zh | 常染色体显性遗传性夏科-马里-图斯病2Y型 | VCP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 2Y | CMT2Y · VCP mutasyonuna bağlı CMT2 · VCP mutasyonu nedeniyle otozomal dominant Charcot-Marie-Tooth hastalığı tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616687 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | attributed | validated |
| MONDO | 0014735 | E | validated | |
| UMLS | C5569026 | 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 |
|---|---|---|---|---|---|---|---|---|
| VCP | Disease-causing germline mutation(s) in | Assessed | HGNC:12666 | ENSG00000165280 | 601023 | 9p13.3 | valosin containing protein | 25125609[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 25125609[PMID]_25125609[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25125609[PMID]_25125609[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
43 annotations · validated 2021-03-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003438 | Absent Achilles reflex | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0009046 | Difficulty running | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0002936 | Distal sensory impairment | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0002141 | Gait imbalance | |
| HP:0009130 | Hand muscle atrophy | |
| HP:0010830 | Impaired tactile sensation | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0001761 | Pes cavus | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0007141 | Sensorimotor neuropathy | |
| Occasional (29-5%) | ||
| HP:0006944 | Abolished vibration sense | |
| HP:0000708 | Atypical behavior | |
| HP:0002136 | Broad-based gait | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0001260 | Dysarthria | |
| HP:0002094 | Dyspnea | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0000712 | Emotional lability | |
| HP:0002359 | Frequent falls | |
| HP:0001765 | Hammertoe | |
| HP:0006886 | Impaired distal vibration sensation | |
| HP:0007328 | Impaired pain sensation | |
| HP:0006389 | Limited knee flexion | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0002354 | Memory impairment | |
| HP:0003394 | Muscle spasm | |
| HP:0003401 | Paresthesia | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0003731 | Quadriceps muscle weakness | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0003691 | Scapular winging | |
| HP:0003376 | Steppage gait | |
| HP:0030051 | Tip-toe gait | |
Annotation source: 25878907[PMID]_25125609[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435387
- This record as JSON: /data/d/435387.json