Charcot-Marie-Tooth disease type 2P
Synonyms: CMT2P
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 2P | CMT2P |
| fr | Maladie de Charcot-Marie-Tooth type 2P | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 2P | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 2P | = en |
| it | Malattia di Charcot-Marie-Tooth tipo 2P | |
| nl | Ziekte van Charcot-Marie-Tooth type 2P | = en |
| pt | Doença Charcot-Marie-Tooth tipo 2P autossómica dominante | = en |
| pl | Choroba Charcota, Mariego i Tootha typu 2P | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 2P | CMT2P · Charcot-Marie-Toothova nemoc, typ 2P |
| uk | Хвороба Шарко-Марі-Тута, тип 2P | = en |
| zh | Charcot-Marie-Tooth病2P型 | Charcot-Marie-Tooth病2P型 |
| tr | Charcot-Marie-Tooth hastalığı tipi 2P | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614436 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 13753 | E | validated | |
| UMLS | C3280797 | E | validated | |
| GARD | 12435 | 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 (2):
- ORPHA:64746Autosomal dominant Charcot-Marie-Tooth disease type 2
rare genetic diseases; rare neurological diseases - ORPHA:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99941Autosomal dominant Charcot-Marie-Tooth disease type 2G moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LRSAM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25135 | ENSG00000148356 | 610933 | 9q33.3-q34.11 | leucine rich repeat and sterile alpha motif containing 1 | 20301462[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 22781092[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/300319
- This record as JSON: /data/d/300319.json