Hereditary motor and sensory neuropathy type 6
Synonyms: CMT6 · Charcot-Marie-Tooth disease type 6 · HMSN 6 · HMSN VI · Hereditary motor and sensory neuropathy type VI · Peripheral neuropathy and optic atrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare axonal hereditary motor and sensory neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary motor and sensory neuropathy type 6 | CMT6 · Charcot-Marie-Tooth disease type 6 · HMSN 6 · HMSN VI · Hereditary motor and sensory neuropathy type VI · Peripheral neuropathy and optic atrophy |
| fr | Neuropathie sensitivo-motrice héréditaire type 6 | CMT6 · Maladie de Charcot-Marie-Tooth type 6 · Neuropathie périphérique et atrophie optique · Neuropathie sensitivo-motrice héréditaire type VI |
| de | Neuropathie, hereditäre motorisch-sensorische, Typ 6 | CMT6 · Charcot-Marie-Tooth-Krankheit Typ 6 · HMSN 6 · HMSN VI · Neuropathie, hereditäre motorisch-sensorische, Typ VI · Periphere Neuropathie und Optikusatrophie |
| es | Neuropatía sensitivo-motora hereditaria tipo 6 | |
| it | Neuropatia motoria e sensoriale ereditaria tipo 6 | CMT6 · Malattia di Charcot-Marie-Tooth, tipo 6 · Neuropatia periferica e atrofia ottica |
| nl | Erfelijke motorische en sensorische neuropathie type 6 | CMT6 · Erfelijke motorische en sensorische neuropathie type VI · HMSN 6 · HMSN VI · Perifere neuropathie en opticusatrofie · Ziekte van Charcot-Marie-Tooth type 6 |
| pt | Neuropatia sensitiva e motora hereditária tipo 6 | |
| pl | Dziedziczna neuropatia ruchowa i czuciowa typu 6 | Choroba Charcota, Mariego i Tootha typu 6 · CMT6 · Neuropatia obwodowa i zanik nerwu wzrokowego |
| cs | Hereditární motorická a senzorická neuropatie, typ 6 | CMT6 · Charcotova-Marieova-Toothova nemoc, typ 6 · Periferní neuropatie a atrofie optiku · Charcot-Marie-Toothova nemoc, typ 6 |
| uk | Спадкова моторна та сенсорна нейропатія, тип 6 | Хвороба Шарко-Марі-Тута тип 6 · ШМТ6 · Спадкова моторна та сенсорна нейропатія VI типу · HMSN 6 · HMSN VI · Периферична нейропатія та атрофія зорового нерва |
| zh | 遗传性运动感觉神经病6型 | 遗传性运动感觉神经病6型 |
| tr | Kalıtsal motor ve duyusal nöropati tip 6 | CMT6 · HMSN 6 · HMSN VI · Charcot-Marie-Tooth hastalığı tip 6 · Periferik nöropati ve optik atrofi · Kalıtsal motor ve duyusal nöropati tip VI |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601152 | E | validated | |
| OMIM | 616505 | BTNT | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0019551 | E | validated | |
| MeSH | C562851 | E | validated | |
| UMLS | C0393807 | 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:140456Autosomal dominant hereditary axonal motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC25A46 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25198 | ENSG00000164209 | 610826 | 5q22.1 | solute carrier family 25 member 46 | 26168012[PMID] |
| MFN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:16877 | ENSG00000116688 | 608507 | 1p36.22 | mitofusin 2 | 16437557[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 73 cases | Worldwide | Case(s) | Validated | 26168012[PMID]_27430653[PMID]_28558379[PMID]_30178502[PMID]_33816684[PMID]_14516807[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 26168012[PMID]_27430653[PMID]_28558379[PMID]_30178502[PMID]_33816684[PMID]_14516807[PMID]_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/90120
- This record as JSON: /data/d/90120.json