ORPHA:91024
Autosomal recessive axonal hereditary motor and sensory neuropathy
Synonyms: AR-CMT2 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive axonal hereditary motor and sensory neuropathy | AR-CMT2 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 |
| fr | Neuropathie sensitivo-motrice axonale héréditaire autosomique récessive | AR-CMT2 · Maladie de Charcot-Marie-Tooth axonale autosomique récessive type 2 |
| de | Autosomal-rezessive axonale hereditäre motorisch-sensorische Neuropathie | AR-CMT2 · Charcot-Marie-Tooth-Krankheit, axonale, autosomal-rezessive, Typ 2 |
| es | Neuropatía axonal sensitivo-motora hereditaria autosómica recesiva | CMT2-AR · Enfermedad de Charcot-Marie-Tooth axonal autosómica recesiva tipo 2 |
| it | Neuropatia sensitivo-motoria assonale ereditaria autosomica recessiva | AR-CMT2 · Malattia assonale di Charcot-Marie-Tooth, autosomica recessiva, tipo 4C |
| nl | Autosomaal recessieve axonale erfelijke motorische en sensorische neuropathie | AR-CMT2 · Autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth type 2 |
| pt | Neuropatia sensitiva e motora hereditária axonal autossómica recessiva | Doença de Charcot-Marie-Tooth tipo 2 autossómica recessiva |
| pl | Autosomalna recesywna aksonalna dziedziczna neuropatia ruchowa i czuciowa | AR-CMT2 · Autosomalna recesywna aksonalna choroba Charcota, Mariego i Tootha typu 2 |
| cs | Autozomálně recesivní axonální hereditární motorická a senzorická neuropatie | AR-CMT2 · Autozomálně recesivní axonální Charcotova-Marieova-Toothova nemoc, typ 2 · Autozomálně recesivní axonální Charcot-Marie-Toothova nemoc, typ 2 |
| uk | Автосомно-рецесивна аксональна спадкова моторна та сенсорна нейропатія | AR-CMT2 · Аутосомно-рецесивна аксональна хвороба Шарко-Марі-Тута, тип 2 |
| zh | 常染色体隐性遗传轴索遗传性运动感觉神经病 | 常染色体隐性轴突腓骨肌萎缩症2型 |
| tr | Otozomal resesif aksonal kalıtsal motor ve duyusal nöropati | AR-CMT2 · Otozomal Çekinik aksonal Charcot-Marie-Tooth hastalığı tip 2 |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 19601 | E | validated | |
| UMLS | C5680194 | 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:476109Axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
Children (22):
- ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- ORPHA:466775Autosomal recessive Charcot-Marie-Tooth disease type 2X
- ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia
- ORPHA:538096Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
- ORPHA:98856Charcot-Marie-Tooth disease type 2B1
- ORPHA:101101Charcot-Marie-Tooth disease type 2B2
- ORPHA:228374Charcot-Marie-Tooth disease type 2B5
- ORPHA:101102Charcot-Marie-Tooth disease type 2H
- ORPHA:300319Charcot-Marie-Tooth disease type 2P
- ORPHA:397968Charcot-Marie-Tooth disease type 2R
- ORPHA:443073Charcot-Marie-Tooth disease type 2S
- ORPHA:495274Charcot-Marie-Tooth disease type 2T
- ORPHA:538101Congenital axonal neuropathy with encephalopathy
- ORPHA:443950DNAJB2-related Charcot-Marie-Tooth disease type 2
- ORPHA:700508Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy
- ORPHA:90120Hereditary motor and sensory neuropathy type 6
- ORPHA:90119Hereditary motor and sensory neuropathy with acrodystrophy
- ORPHA:457205Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- ORPHA:423894Microcephaly-complex motor and sensory axonal neuropathy syndrome
- ORPHA:90118Severe early-onset axonal neuropathy due to MFN2 deficiency
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/91024
- This record as JSON: /data/d/91024.json