Charcot-Marie-Tooth disease type 4F
Synonyms: CMT4F
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A form of severe, demyelinating Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 4F | CMT4F |
| fr | Maladie de Charcot-Marie-Tooth type 4F | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 4F | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 4F | |
| it | Malattia di Charcot-Marie-Tooth, tipo 4F | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 4F | = en |
| pt | Doença de Charcot-Marie-Tooth tipo 4F | |
| pl | Choroba Charcota, Mariego i Tootha typu 4F | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 4F | CMT4F · Charcot-Marie-Toothova nemoc, typ 4F |
| uk | Хвороба Шарко-Марі-Тута, тип 4F | = en |
| zh | 腓骨肌萎缩症4F型 | = en |
| tr | Charcot-Marie-Tooth hastalığı tip 4F | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614895 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0013959 | E | validated | |
| UMLS | C2608082 | 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 |
|---|---|---|---|---|---|---|---|---|
| PRX | Disease-causing germline mutation(s) in | Assessed | HGNC:13797 | ENSG00000105227 | 605725 | 19q13.2 | periaxin | 20301641[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99952
- This record as JSON: /data/d/99952.json