Charcot-Marie-Tooth disease type 2S
Synonyms: CMT2S
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 2S | CMT2S |
| fr | Maladie de Charcot-Marie-Tooth type 2S | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 2S | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 2S | = en |
| it | Malattia di Charcot-Marie-Tooth tipo 2S | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 2S | = en |
| pt | Doença de Charcot-Marie-Tooth tipo 2S | |
| pl | Choroba Charcota, Mariego i Tootha typu 2S | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 2S | CMT2S · Charcot-Marie-Toothova nemoc, typ 2S |
| uk | Хвороба Шарко-Марі-Тута, тип 2S | = en |
| zh | 夏科-马里-图斯病2S型 | = en |
| tr | Charcot-Marie-Tooth hastalığı tip 2S | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616155 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0014511 | E | validated | |
| UMLS | C4015349 | 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 |
|---|---|---|---|---|---|---|---|---|
| IGHMBP2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5542 | ENSG00000132740 | 600502 | 11q13.3 | immunoglobulin mu DNA binding protein 2 | 25439726[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 28065684[PMID]_28202949[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28065684[PMID]_28202949[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/443073
- This record as JSON: /data/d/443073.json