ORPHA:101102
Charcot-Marie-Tooth disease type 2H
Synonyms: AR-CMT2C · Autosomal recessive axonal CMT4C2 · Axonal Charcot-Marie-Tooth disease with pyramidal involvement · CMT2H
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 2H | AR-CMT2C · Autosomal recessive axonal CMT4C2 · Axonal Charcot-Marie-Tooth disease with pyramidal involvement · CMT2H |
| fr | Maladie de Charcot-Marie-Tooth type 2H | AR-CMT2C · CMT2H · CMT4C2 axonale autosomique récessive · Maladie de Charcot-Marie-Tooth axonale type 2 avec atteinte pyramidale |
| de | Charcot-Marie-Tooth-Krankheit Typ 2H | AR-CMT2C · CMT2H · Charcot-Marie-Tooth-Krankheit, axonal, mit Pyramidenbahn-Beteiligung |
| es | Enfermedad de Charcot-Marie-Tooth tipo 2H | CMT2C-AR · CMT2H · CMT4C2 axonal autosómica recesiva · Enfermedad de Charcot-Marie-Tooth axonal con afectación piramidal |
| it | Malattia di Charcot-Marie-Tooth, tipo 2H | AR-CMT2C · CMT4C2 assonale autosomica recessiva · Malattia assonale di Charcot-Marie-Tooth con coinvolgimento piramidale |
| nl | Ziekte van Charcot-Marie-Tooth type 2H | AR-CMT2C · Autosomaal recessieve axonale CMT4C2 · Axonale ziekte van Charcot-Marie-Tooth met piramidale betrokkenheid · CMT2H |
| pt | Doença de Charcot-Marie-Tooth tipo 2H | |
| pl | Choroba Charcota, Mariego i Tootha typu 2H | CMT2H · AR-CMT2C · Autosomalna recesywna aksonalna CMT4C2 · Aksonalna choroba Charcota, Mariego i Tootha z objawami piramidowymi |
| cs | Charcotova-Marieova-Toothova nemoc, typ 2H | AR-CMT2C · Axonální Charcotova-Marieova-Toothova nemoc se zahrnutím pyramidy · Autozomálně recesivní axonální CMT4C2 · Charcot-Marie-Toothova nemoc, typ 2H · Axonální Charcot-Marie-Toothova nemoc se zahrnutím pyramidy |
| uk | Хвороба Шарко-Марі-Тута, тип 2H | AR-CMT2C · Аутосомно-рецесивний аксональний CMT4C2 · Аксональна хвороба Шарко-Марі-Тута з пірамідним ураженням · CMT2H |
| zh | 夏科-马里-图斯病2H型 | 轴索性CMT病伴锥体系受累 |
| tr | Charcot-Marie-Tooth hastalığı tip 2H | CMT2H · AR-CMT2C · Otozomal çekinik aksonal CMT4C2 · Piramidal tutulumlu aksonal Charcot-Marie-Tooth hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607731 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0011901 | E | validated | |
| MeSH | C535415 | E | validated | |
| UMLS | C1843173 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GDAP1 | Candidate gene tested in | Not yet assessed | HGNC:15968 | ENSG00000104381 | 606598 | 8q21.11 | ganglioside induced differentiation associated protein 1 | 20301462[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 11166163[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11166163[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101102
- This record as JSON: /data/d/101102.json