MME-related autosomal dominant Charcot Marie Tooth disease type 2
Synonyms: MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MME-related autosomal dominant Charcot Marie Tooth disease type 2 | MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2 associée à MME | CMT2 autosomique dominante associée à MME · Neuropathie sensitivo-motrice héréditaire autosomique dominante type 2 associée à MME |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch MME-Genmutation | CMT2, autosomal-dominante, MME-assoziierte · Neuropathie, hereditäre motorisch-sensorische, Typ 2, autosomal-dominante, MME-assoziierte |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 asociada al gen MME | |
| it | Malattia di Charcot Marie Tooth autosomica dominante tipo 2 correlata a MME | |
| nl | MME-gerelateerde autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 | MME-gerelateerde autosomaal dominante CMT2 · MME-gerelateerde autosomaal dominante erfelijke motorische en sensorische neuropathie type 2 |
| pt | Doença de Charcot-Marie-Tooth tipo 2 autossómica dominante MME-relacionada | |
| pl | Autosomalnie dominująca choroba Charcota, Mariego i Tootha związana z MME typu 2 | CMT2 autosomalna dominujaca związana z MME · Autosomalna dominująca dziedziczna neuropatia ruchowo-czuciowa typu 2 związana z MME |
| cs | MME-vázaná autozomálně dominantní Charcot-Marie-Tooth typ 2 | MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 · MME-vázaná autozomálně dominantní CMT2 · Autozomálně dominantní dědičná motorická a senzorická neuropatie typu 2 související s MME |
| uk | ММЕ-асоційована аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2 | Повязаний з ММЕ аутосомно-домінантний CMT2 · Спадкова моторна та сенсорна нейропатія 2 типу, повязана з ММЕ, з аутосомно-домінантним типом успадкування |
| zh | MME相关常染色体显性Charcot-Marie-Tooth病2型 | MME相关常染色体显性遗传性运动和感觉神经病2型 |
| tr | MME -ilişkili otozomal dominant Charcot Marie Tooth hastalığı tip 2 | MME-ilişkili otozomal baskın CMT2 · MME-ilişkili otozomal baskın kalıtsal motor ve duyusal nöropati tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617017 | NTBT | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | attributed | validated |
| MONDO | 0044657 | E | validated | |
| UMLS | C5567450 | 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 (3):
- ORPHA:64746Autosomal dominant Charcot-Marie-Tooth disease type 2
rare genetic diseases; rare neurological diseases - ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MME | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7154 | ENSG00000196549 | 120520 | 3q25.2 | membrane metalloendopeptidase | 27588448[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 27588448[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27588448[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/497757
- This record as JSON: /data/d/497757.json