Charcot-Marie-Tooth disease type 1C
Synonyms: CMT1C
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 1C | CMT1C |
| fr | Maladie de Charcot-Marie-Tooth type 1C | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 1C | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 1C | |
| it | Malattia di Charcot-Marie-Tooth tipo 1C | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 1C | = en |
| pt | Doença de Charcot-Marie-Tooth tipo 1C | |
| pl | Choroba Charcota, Mariego i Tootha typu 1C | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 1C | CMT1C · Charcot-Marie-Toothova nemoc, typ 1C |
| uk | Хвороба Шарко-Марі-Тута, тип 1С | = en |
| zh | 夏科-马里-图斯病1C型 | = en |
| tr | Charcot-Marie-Tooth hastalığı tip 1C | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601098 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0010995 | E | validated | |
| MeSH | C537984 | E | validated | |
| UMLS | C0270913 | 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:65753Charcot-Marie-Tooth disease type 1
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LITAF | Disease-causing germline mutation(s) in | Assessed | HGNC:16841 | ENSG00000189067 | 603795 | 16p13.13 | lipopolysaccharide induced TNF factor | 20301384[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/101083
- This record as JSON: /data/d/101083.json