Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Synonyms: RI-CMT type C
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, All ages, Childhood
- Status
- active
A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive intermediate Charcot-Marie-Tooth disease type C | RI-CMT type C |
| fr | Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type C | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre, Typ C | RI-CMT Typ C |
| es | Enfermedad de Charcot-Marie-Tooth intermedia autosómica recesiva tipo C | RI-CMT tipo C |
| it | Malattia di Charcot-Marie-Tooth autosomica recessiva intermedia tipo C | RI-CMT, tipo C |
| nl | Autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type C | = en |
| pt | Doença de Charcot-Marie-Tooth intermédia autossómica recessiva tipo C | |
| pl | Autosomalna recesywna pośrednia choroba Charcota, Mariego i Toothu typu C | RI-CMT typu C |
| cs | Autozomálně recesivní středně těžká Charcotova-Marieova-Toothova nemoc, typ C | RI-CMT typ C · Autozomálně recesivní středně těžká Charcot-Marie-Toothova nemoc, typ C |
| uk | Аутосомно-рецесивна помірно виражена хвороба Шарко-Марі-Тута, тип С | RI-CMT тип C |
| zh | 常染色体隐性中间型夏科-马里-图斯病C型 | RI-CMT C型 |
| tr | Otozomal resesif orta dereceli Charcot-Marie-Tooth hastalığı tip C | RI-CMT tip C |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615376 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0014154 | E | validated | |
| UMLS | C4750846 | 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:268337Autosomal recessive intermediate Charcot-Marie-Tooth disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLEKHG5 | Disease-causing germline mutation(s) in | Assessed | HGNC:29105 | ENSG00000171680 | 611101 | 1p36.31 | pleckstrin homology and RhoGEF domain containing G5 | 23844677[PMID]_23777631[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 23844677[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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/369867
- This record as JSON: /data/d/369867.json