Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Synonyms: Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons · CMT2 with giant axons · HMSN2 with giant axons
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons · CMT2 with giant axons · HMSN2 with giant axons |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2 avec axones géants | CMT2 avec axones géants · HMSN2 avec axones géants · Neuropathie sensitivo-motrice héréditaire autosomique dominante type 2 avec axones géants |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, mit Riesen-Axonen | Autosomal-dominante hereditäre motorisch-sensorische Neuropathie Typ 2 mit Riesen-Axonen · CMT2 mit Riesen-Axonen · HMSN2 mit Riesen-Axonen |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 con axones gigantes | CMT2 con axones gigantes · HMSN2 con axones gigantes · Neuropatía hereditaria sensitivo-motora autosómica dominante tipo 2 con axones gigantes |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2 con assoni giganti | CMT2 con assoni giganti · HMSN2 con assoni giganti · Neuropatia motoria e sensoriale ereditaria tipo 2, autosomica dominante, con assoni giganti |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 met reuzenaxonen | Autosomaal dominante erfelijke motorische en sensorische neuropathie type 2 met reuzenaxonen · CMT2 met reuzenaxonen · HMSN2 met reuzenaxonen |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2 com axónios gigantes | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 z olbrzymimi aksonami | Autosomalna dominująca dziedziczna neuropatia ruchowa i czuciowa typu 2 z olbrzymimi aksonami · CMT2 z olbrzymimi aksonami · HMSN2 z olbrzymimi aksonami |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2 s obrovskými axony | CMT2 s obrovskými axony · HMSN2 s obrovskými axony · Autozomálně dominantní hereditární motorická a senzorická neuropatie, typ 2 s obrovskými axony · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2 s obrovskými axony |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2 з гігантськими аксонами | Аутосомно-домінантна спадкова моторна та сенсорна нейропатія типу 2 з гігантськими аксонами · CMT2 з гігантськими аксонами · HMSN2 з гігантськими аксонами |
| zh | 常染色体显性遗传夏科-马里-图斯病2型伴巨大轴突 | 常染色体显性遗传运动和感觉神经病2型伴巨大轴突 |
| tr | Dev aksonlar ile seyreden otozomal dominant Charcot-Marie-Tooth hastalığı tip 2 | Giant akson ile seyreden CMT2 · Giant aksonlar ile seyreden HMSN2 · Dev aksonlar ile seyreden otozomal baskın motor ve sensör nöropati tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610100 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0012411 | E | validated | |
| UMLS | C5190585 | E | validated | |
| GARD | 12447 | 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:64746Autosomal dominant Charcot-Marie-Tooth disease type 2
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCAF8 | Disease-causing germline mutation(s) in | Assessed | HGNC:24891 | ENSG00000132716 | 615820 | 1q23.2 | DDB1 and CUL4 associated factor 8 | 24500646[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 24500646[PMID]_15111691[PMID]_14557576[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24500646[PMID]_15111691[PMID]_14557576[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/401964
- This record as JSON: /data/d/401964.json