Charcot-Marie-Tooth disease type 4E
Synonyms: Autosomal recessive congenital hypomyelinating neuropathy · CMT4E
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of congenital, hypomyelinating Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, absence of deep tendon reflexes, and foot deformity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 4E | Autosomal recessive congenital hypomyelinating neuropathy · CMT4E |
| fr | Maladie de Charcot-Marie-Tooth type 4E | CMT4E |
| de | Charcot-Marie-Tooth-Krankheit Typ 4E | CMT4E · Hypomyelinisationsneuropathie, kongenitale |
| es | Enfermedad de Charcot-Marie-Tooth tipo 4E | |
| it | Malattia di Charcot-Marie-Tooth, tipo 4E | Neuropatia ipomielinizzante congenita autosomica recessiva |
| nl | Ziekte van Charcot-Marie-Tooth type 4E | CMT4E · Autosomaal recessieve congenitale hypomyeliniserende neuropathie |
| pt | Doença de Charcot-Marie-Tooth tipo 4E | |
| pl | Choroba Charcota, Mariego i Tootha typu 4E | Autosomalna recesywna wrodzona neuropatia hipomielinizująca · CMT4E |
| cs | Charcotova-Marieova-Toothova nemoc, typ 4E | CMT4E · Autozomálně recesivní vrozená hypomyelinizační neuropatie · Charcot-Marie-Toothova nemoc, typ 4E |
| uk | Хвороба Шарко-Марі-Тута, тип 4Е | Аутосомно-рецесивна вроджена гіпомієлінізуюча нейропатія · CMT4E |
| zh | 腓骨肌萎缩症4E型 | 常染色体隐性遗传性先天性髓鞘减少性神经病 |
| tr | Charcot-Marie-Tooth hastalığı tip 4E | CMT4E · Otozomal Çekinik Doğumsal hipomiyelinizan nöropati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605253 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0011527 | E | validated | |
| MeSH | C535301 | E | validated | |
| UMLS | C4721437 | 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:64749Charcot-Marie-Tooth disease type 4
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EGR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3239 | ENSG00000122877 | 129010 | 10q21.3 | early growth response 2 | 20301641[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99951
- This record as JSON: /data/d/99951.json