ORPHA:98856
Charcot-Marie-Tooth disease type 2B1
Synonyms: AR-CMT2B1 · Autosomal recessive Charcot-Marie-Tooth disease type 2B1 · Autosomal recessive axonal CMT4C1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 2B1 | AR-CMT2B1 · Autosomal recessive Charcot-Marie-Tooth disease type 2B1 · Autosomal recessive axonal CMT4C1 |
| fr | Maladie de Charcot-Marie-Tooth type 2B1 | Maladie de Charcot-Marie-Tooth autosomique récessive type 2B1 · AR-CMT2B1 · CMT4C1 axonale autosomique récessive |
| de | Charcot-Marie-Tooth-Krankheit Typ 2B1 | CMT2B1 · Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2B1 |
| es | Enfermedad de Charcot-Marie-Tooth tipo 2B1 | |
| it | Malattia di Charcot-Marie-Tooth, tipo 2B1 | AR-CMT2B1 · CMT4C1 assonale autosomica recessiva · Malattia di Charcot-Marie-Tooth autosomica recessiva, tipo 2B1 |
| nl | Ziekte van Charcot-Marie-Tooth type 2B1 | AR-CMT2B1 · Autosomaal recessieve axonale CMT4C1 · Autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2B1 |
| pt | Doença de Charcot-Marie-Tooth tipo 2B1 | |
| pl | Choroba Charcota, Mariego i Tootha typu 2B1 | AR-CMT2B1 · Autosomalna recesywna aksonalna CMT4C1 · Autosomalna recesywna choroba Charcota, Mariego i Tootha typu 2B1 |
| cs | Charcotova-Marieova-Toothova nemoc, typ 2B1 | AR-CMT2B1 · Autozomálně recesivní Charcotova-Marieova-Toothova nemoc, typ 2B1 · Autozomálně recesivní axonální CMT4C1 · Charcot-Marie-Toothova nemoc, typ 2B1 · Autozomálně recesivní Charcot-Marie-Toothova nemoc, typ 2B1 |
| uk | Хвороба Шарко-Марі-Тута, тип 2B1 | AR-CMT2B1 · Аутосомно-рецесивний аксональний CMT4C1 · Аутосомно-рецесивна хвороба Шарко-Марі-Тута, тип 2B1 |
| zh | 腓骨肌萎缩症2B1型 | 常染色体隐性遗传Charcot-Marie-Tooth病2B1型 |
| tr | Charcot-Marie-Tooth hastalığı tipi 2B1 | AR-CMT2B1 · Otozomal çekinik aksonal CMT4C1 · Otozomal çekinik Charcot-Marie-Tooth hastalığı tip 2B1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605588 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0011569 | E | validated | |
| MeSH | C537990 | E | validated | |
| UMLS | C1854154 | 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 (2):
- ORPHA:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:300758Laminopathy with peripheral neuropathy
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNA | Disease-causing germline mutation(s) in | Assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | 20301462[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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.
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HPO phenotypes
33 annotations · validated 2021-10-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040078 | Axonal degeneration | |
| HP:0003447 | Axonal loss | |
| HP:0007078 | Decreased amplitude of sensory action potentials | |
| HP:0003380 | Decreased number of peripheral myelinated nerve fibers | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0002936 | Distal sensory impairment | |
| HP:0003482 | EMG: axonal abnormality | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0003390 | Sensory axonal neuropathy | |
| Frequent (79-30%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0001284 | Areflexia | |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0007149 | Distal upper limb amyotrophy | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0001765 | Hammertoe | |
| HP:0009130 | Hand muscle atrophy | |
| HP:0030237 | Hand muscle weakness | |
| HP:0009049 | Peroneal muscle atrophy | |
| HP:0001761 | Pes cavus | |
| HP:0008956 | Proximal lower limb amyotrophy | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0003376 | Steppage gait | |
| HP:0011916 | Toe extensor amyotrophy | |
| Occasional (29-5%) | ||
| HP:0007249 | Decreased number of small peripheral myelinated nerve fibers | |
| HP:0002540 | Inability to walk | |
| HP:0008988 | Pelvic girdle muscle atrophy | |
| HP:0007126 | Proximal amyotrophy | |
| HP:0003724 | Shoulder girdle muscle atrophy | |
| Very rare (<4-1%) | ||
| HP:0003431 | Decreased motor nerve conduction velocity | |
| Excluded (0%) | ||
| HP:0007233 | Clusters of axonal regeneration | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 23781959[PMID]_22575637[PMID]_29478606[PMID]_21504497[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98856
- This record as JSON: /data/d/98856.json