Autosomal recessive Charcot-Marie-Tooth disease type 2X
Synonyms: Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation · CMT2X · ARCMT2X
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive Charcot-Marie-Tooth disease type 2X | Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation · CMT2X · ARCMT2X |
| fr | Maladie de Charcot-Marie-Tooth autosomique récessive type 2X | ARCMT2X · CMT2X · Maladie de Charcot-Marie-Tooth autosomique récessive type 2 due à une mutation de SPG11 |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2X | ARCMT2X · CMT2X · Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2, SPG11-assoziierte |
| es | Enfermedad de Charcot-Marie-Tooth autosómica recesiva tipo 2X | ARCMT2X · CMT2X · Enfermedad de Charcot-Marie-Tooth autosómica recesiva tipo 2 por una mutación en el gen SPG11 |
| it | Malattia di Charcot-Marie-Tooth autosomica recessiva tipo 2X | |
| nl | Autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2X | ARCMT2X · Autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2 als gevolg van een SPG11-mutatie · CMT2X |
| pt | Doença de Charcot-Marie-Tooth autossómica recessiva tipo 2X | |
| pl | Autosomalna recesywna choroba Charcota, Mariego i Tootha typu 2X | ARCMT2X · Autosomalna recesywna choroba Charcota, Mariego i Tootha typu 2 spowodowana SPG11 · CMT2X |
| cs | Autozomálně recesivní Charcot-Marie-Toothova nemoc, typ 2X | CMT2X · ARCMT2X · Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation · Autozomálně recesivní Charcot-Marie-Toothova choroba typu 2 způsobená mutací SPG11 |
| uk | Аутосомно-рецесивна хвороба Шарко-Марі-Тута, тип 2X | ARCMT2X · Аутосомно-рецесивна хвороба Шарко-Марі-Тута 2 типу, зумовлена мутацією SPG11 · CMT2X |
| zh | 常染色体隐性Charcot-Marie-Tooth病2X型 | SPG11突变导致的常染色体隐性Charcot-Marie-Tooth病2型 |
| tr | Otozomal resesif Charcot-Marie-Tooth hastalığı tipi 2X | CMT2X · ARCMT2X · SPG11 mutasyonuna bağlı otozomal çekinik Charcot-Marie-Tooth hastalığı tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616668 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | attributed | validated |
| MONDO | 0014726 | E | validated | |
| UMLS | C5569024 | 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:91024Autosomal recessive axonal hereditary 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 |
|---|---|---|---|---|---|---|---|---|
| SPG11 | Disease-causing germline mutation(s) in | Assessed | HGNC:11226 | ENSG00000104133 | 610844 | 15q21.1 | SPG11 vesicle trafficking associated, spatacsin | 26556829[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 29 cases | Worldwide | Case(s) | Validated | 26556829[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26556829[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/466775
- This record as JSON: /data/d/466775.json