Charcot-Marie-Tooth disease type 2B5
Synonyms: Autosomal recessive Charcot-Marie-Tooth disease type 2B5 · SEOAN due to NEFL deficiency · Severe early-onset axonal neuropathy due to NEFL deficiency · Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency · AR-CMT2B5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 2B5 | Autosomal recessive Charcot-Marie-Tooth disease type 2B5 · SEOAN due to NEFL deficiency · Severe early-onset axonal neuropathy due to NEFL deficiency · Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency · AR-CMT2B5 |
| fr | Maladie de Charcot-Marie-Tooth type 2B5 | AR-CMT2B5 · Maladie de Charcot-Marie-Tooth autosomique récessive type 2B5 · Neuropathie axonale sévère précoce par déficit en NEFL · Neuropathie axonale sévère précoce par déficit en chaîne légère des neurofilaments |
| de | Charcot-Marie-Tooth-Krankheit Typ 2B5 | AR-CMT2B5 · Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2B5 · Neuropathie, axonale, schwere früh-einsetzende, durch NEFL-Mangel · SEOAN durch NEFL-Mangel · Schwere früh-einsetzende axonale Neuropathie durch Neurofilament-Leichtketten-Mangel |
| es | Enfermedad de Charcot-Marie-Tooth tipo 2B5 | CMT2B5-AR · Enfermedad de Charcot-Marie-Tooth autosómica recesiva tipo 2B5 · Neuropatía axonal grave de inicio precoz por deficiencia de NEFL · Neuropatía axonal grave de inicio precoz por deficiencia de subunidad ligera de neurofilamentos · SEOAN por deficiencia de NEFL |
| it | Malattia di Charcot-Marie-Tooth tipo 2B5 | Neuropatia assonale grave a esordio precoce da deficit della subunità leggera dei neurofilamenti |
| nl | Ziekte van Charcot-Marie-Tooth type 2B5 | AR-CMT2B5 · Autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2B5 · Ernstige axonale neuropathie met vroege aanvang door NEFL-deficiëntie · Ernstige axonale neuropathie met vroege aanvang door deficiëntie van lichte subeenheden van neurofilamenten · SEOAN door NEFL-deficiëntie |
| pt | Doença de Charcot-Marie-Tooth tipo 2B5 | Neuropatia axonal grave de início precoce por deficiência NEFL |
| pl | Ciężka neuropatia aksonalna o wczesnym początku z powodu niedoboru NEFL | Ciężka neuropatia aksonalna o wczesnym początku z powodu niedoboru podjednostki lekkich neurofilamentów |
| cs | Těžká axonální neuropatie s časným začátkem způsobená NEFL deficitem | Těžká axonální neuropatie s časným začátkem způsobená deficitem lehké podjednotky neurofilament |
| uk | Хвороба Шарко-Марі-Тута, тип 2B5 | AR-CMT2B5 · Аутосомно-рецесивна хвороба Шарко-Марі-Тута, тип 2B5 · SEOAN через дефіцит NEFL · Тяжка рання аксональна нейропатія внаслідок дефіциту легкої субодиниці нейрофіламентів · Тяжка рання аксональна нейропатія внаслідок дефіциту NEFL |
| zh | Charcot-Marie-Tooth病2B5型 | 神经丝轻链蛋白亚基缺陷所致重度早发性轴突性神经病 |
| tr | Charcot-Marie-Tooth hastalığı tip 2B5 | AR-CMT2B5 · NEFL eksikliğine bağlı SEOAN · Otozomal Çekinik Charcot-Marie-Tooth hastalığı tip 2B5 · NEFL eksikliğine bağlı ağır erken başlangıçlı aksonal nöropati · Hafif nörofilament alt birim eksikliğine bağlı ağır erken başlangıçlı aksonal nöropati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607734 | NTBT | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0016454 | E | validated | |
| UMLS | C4749824 | 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 |
|---|---|---|---|---|---|---|---|---|
| NEFL | Disease-causing germline mutation(s) in | Assessed | HGNC:7739 | ENSG00000277586 | 162280 | 8p21.2 | neurofilament light chain | 20039262[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 20039262[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20039262[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/228374
- This record as JSON: /data/d/228374.json