PMP2-related Charcot-Marie-Tooth disease type 1
Synonyms: PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1 · PMP2-related hereditary motor and sensory neuropathy type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PMP2-related Charcot-Marie-Tooth disease type 1 | PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1 · PMP2-related hereditary motor and sensory neuropathy type 1 |
| fr | Maladie de Charcot-Marie-Tooth type 1 associée à PMP2 | CMT1 associée à PMP2 · Neuropathie Charcot-Marie-Tooth type 1 associée à PMP2 · Neuropathie sensitivo-motrice héréditaire type 1 associée à PMP2 |
| de | PMP2-abhängige Charcot-Marie-Tooth-Krankheit Typ 1 | PMP2-abhängige CMT1 · PMP2-abhängige hereditäre motorisch-sensorische Neuropathie Typ 1 · SURF1-abhängige Charcot-Marie-Tooth-Neuropathie Typ 1 |
| es | Enfermedad de Charcot-Marie-Tooth tipo 1 asociada al gen PMP2 | |
| it | Malattia di Charcot-Marie-Tooth tipo 1 correlata a PMP2 | |
| nl | PMP2-gerelateerde ziekte van Charcot-Marie-Tooth type 1 | PMP2-gerelateerde CMT1 · PMP2-gerelateerde erfelijke motorische en sensorische neuropathie type 1 · PMP2-gerelateerde neuropathie van Charcot-Marie-Tooth type 1 |
| pt | Doença Charcot-Marie-Tooth tipo 1 PMP2-relacionada | |
| pl | Choroba Charcota, Mariego i Tootha typu 1 zależna od PMP2 | CMT1 zależna od PMP2 · Dziedziczna neuropatia Charcota, Mariego i Tootha typu 1 zależna od PMP2 · Neuropatia Charcota, Mariego i Tootha typu 1 zależna od PMP2 |
| cs | PMP2 asociovaná Charcot-Marie-Toothova nemoc, typ 1 | PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1 · PMP2-related hereditary motor and sensory neuropathy type 1 · PMP2 asociovaná CMT1 · PMP2 asociovaná Charcot-Marie-Toothova neuropatie typ 1 · PMP2 asociovaná dědičná motorická a senzorická neuropatie typ 1 |
| uk | Хвороба Шарко-Марі-Тута, тип 1, повязана з PMP2 | PMP2-асоційована нейропатія Шарко-Марі-Тута типу 1 · CMT1, повязаний з PMP2 · Спадкова моторна та сенсорна нейропатія типу 1, повязана з PMP2 |
| zh | PMP2相关Charcot-Marie-Tooth病1型 | PMP2相关1型遗传性运动和感觉神经病 |
| tr | PMP2 -ilişkili Charcot-Marie-Tooth hastalığı tip 1 | PMP2-ilişkili CMT1 · PMP2-ilişkili Charcot-Marie-Tooth nöropati tip 1 · PMP2 -ilişkili kalıtsal motor ve duyusal nöropati tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618279 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0033135 | E | validated | |
| UMLS | C5567891 | 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:140453Autosomal dominant hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PMP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9117 | ENSG00000147588 | 170715 | 8q21.13 | peripheral myelin protein 2 | 26828946[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 26828946[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26828946[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/476394
- This record as JSON: /data/d/476394.json