Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Synonyms: CMTDIE · Charcot-Marie-Tooth disease-nephropathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- No data available
- Status
- active
A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E | CMTDIE · Charcot-Marie-Tooth disease-nephropathy syndrome |
| fr | Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante E | CMTDIE · Syndrome de maladie de Charcot-Marie-Tooth-néphropathie |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, intermediäre, Typ E | CMTDIE · Charcot-Marie-Tooth-Krankheit mit Nephropathie |
| es | Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante tipo E | CMTDIE · Enfermedad de Charcot-Marie-Tooth-nefropatía |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante intermedia tipo E | CMTDIE · Malattia di Charcot-Marie-Tooth - nefropatia |
| nl | Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type E | CMTDIE · Ziekte van Charcot-Marie-Tooth - nefropathie-syndroom |
| pt | Doença de Charcot-Marie-Tooth intermédia autossómica dominante tipo E | Doença de Charcot-Marie-Tooth-nefropatia |
| pl | Polineuropatia Charcot, Marie i Tooth typu E o dziedziczeniu autosomalnym dominującym | Choroba Charcota, Mariego i Tootha - nefropatia · CMTDIE |
| cs | Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc, typ E | CMTDIE · Syndrom zahrnující Charcotovu-Marieovu-Toothovu nemoc a nefropatii · Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc, typ E · Syndrom zahrnující Charcot-Marie-Toothovu nemoc a nefropatii |
| uk | Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута, тип E | Синдром нефропатії Шарко-Марі-Тута · CMTDIE |
| zh | 常染色体显性腓骨肌萎缩症E型 | 腓骨肌萎缩症-肾病综合征 |
| tr | Otozomal dominant orta düzey Charcot-Marie-Tooth hastalığı tip E | CMTDIE · Charcot-Marie-Tooth hastalığı-nefropati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614455 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.2 | NTBT | attributed | validated |
| MONDO | 0013758 | E | validated | |
| UMLS | C4302667 | 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:90114Autosomal dominant intermediate Charcot-Marie-Tooth disease
rare genetic diseases; rare neurological diseases - ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| INF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:23791 | ENSG00000203485 | 610982 | 14q32.33 | inverted formin, FH2 and WH2 domain containing | 22187985[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 22187985[PMID]_24174593[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/93114
- This record as JSON: /data/d/93114.json