Charcot-Marie-Tooth disease type 2B2
Synonyms: AR-CMT2B2 · Autosomal recessive axonal CMT4C3 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 2B2 | AR-CMT2B2 · Autosomal recessive axonal CMT4C3 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 |
| fr | Maladie de Charcot-Marie-Tooth type 2B2 | AR-CMT2B2 · CMT4C3 axonale autosomique récessive · Maladie de Charcot-Marie-Tooth type 2B2 axonale autosomique récessive |
| de | Charcot-Marie-Tooth-Krankheit Typ 2B2 | AR-CMT2B2 · Charcot-Marie-Tooth-Krankheit, axonale, autosomal-rezessive, Typ 2B2 |
| es | Enfermedad de Charcot-Marie-Tooth tipo 2B2 | |
| it | Malattia di Charcot-Marie-Tooth, tipo 2B2 | CMT4C3 assonale autosomica recessiva · Malattia assonale di Charcot-Marie-Tooth, autosomica recessiva, tipo 2B2 |
| nl | Ziekte van Charcot-Marie-Tooth type 2B2 | AR-CMT2B2 · Autosomaal recessieve axonale CMT4C3 · Autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth type 2B2 |
| pt | Doença de Charcot-Marie-Tooth tipo 2B2 | |
| pl | Choroba Charcota, Mariego i Tootha typu 2B2 | AR-CMT2B2 · Autosomalna recesywna aksonalna choroba Charcota, Mariego i Tootha typu 2B2 · Autosomalna recesywna aksonalna CMT4C3 |
| cs | Charcotova-Marieova-Toothova nemoc, typ 2B2 | AR-CMT2B2 · Autozomálně recesivní axonální CMT4C3 · Autozomálně recesivní axonální Charcotova-Marieova-Toothova nemoc, typ 2B2 · Charcot-Marie-Toothova nemoc, typ 2B2 · Autozomálně recesivní axonální Charcot-Marie-Toothova nemoc, typ 2B2 |
| uk | Хвороба Шарко-Марі-Тута, тип 2B2 | AR-CMT2B2 · Аутосомно-рецесивна аксональна хвороба Шарко-Марі-Тута, тип 2B2 · Аутосомно-рецесивний аксональний CMT4C3 |
| zh | 夏科-马里-图斯病2B2型 | 常染色体隐性遗传轴索性CMT2B2型 |
| tr | Charcot-Marie-Tooth hastalığı tipi 2B2 | AR-CMT2B2 · Otozomal çekinik aksonal CMT4C3 · Otozomal çekinik aksonal Charcot-Marie-Tooth hastalığı tip 2B2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605589 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0011570 | E | validated | |
| MeSH | C537991 | E | validated | |
| UMLS | C1854150 | 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:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PNKP | Disease-causing germline mutation(s) in | Assessed | HGNC:9154 | ENSG00000039650 | 605610 | 19q13.33 | polynucleotide kinase 3'-phosphatase | 30039206[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 11112660[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11112660[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/101101
- This record as JSON: /data/d/101101.json