Charcot-Marie-Tooth disease type 1E
Synonyms: CMT1E · Charcot-Marie-Tooth disease-deafness syndrome · Charcot-Marie-Tooth disease-hearing loss syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the <i>PMP22</i> (17p12) gene. The disease severity depends on the particular <i>PMP22</i> mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 1E | CMT1E · Charcot-Marie-Tooth disease-deafness syndrome · Charcot-Marie-Tooth disease-hearing loss syndrome |
| fr | Maladie de Charcot-Marie-Tooth type 1E | CMT1E · Syndrome de maladie de Charcot-Marie-Tooth-surdité |
| de | Charcot-Marie-Tooth-Krankheit Typ 1E | CMT1E · Charcot-Marie-Tooth-Krankheit - Schwerhörigkeit |
| es | Enfermedad de Charcot-Marie-Tooth tipo 1E | CMT1E · Síndrome de enfermedad de Charcot-Marie-Tooth-hipoacusia · Síndrome de enfermedad de Charcot-Marie-Tooth-sordera |
| it | Malattia di Charcot-Marie-Tooth, tipo 1E | CMT1E · Malattia di Charcot-Marie-Tooth - sordità |
| nl | Ziekte van Charcot-Marie-Tooth type 1E | CMT1E · Ziekte van Charcot-Marie-Tooth - doofheid-syndroom |
| pt | Doença de Charcot-Marie-Tooth tipo 1E | |
| pl | Choroba Charcota, Mariego i Tootha typu 1E | Choroba Charcota, Mariego i Tootha - głuchota · CMT1E |
| cs | Charcotova-Marieova-Toothova nemoc, typ 1E | CMT1E · Charcotova-Marieova-Toothova nemoc a hluchota · Charcot-Marie-Toothova nemoc, typ 1E · Charcot-Marie-Toothova nemoc a hluchota |
| uk | Хвороба Шарко-Марі-Тута, тип 1Е | Синдром глухоти при хворобі Шарко-Марі-Тута · Хвороба Шарко-Марі-Тута - синдром втрати слуху · ШМТ1E |
| zh | 腓骨肌萎缩症1E型 | 腓骨肌萎缩症-听觉丧失综合征 |
| tr | Charcot-Marie-Tooth hastalığı tip 1E | CMT1E · Charcot-Marie-Tooth hastalığı-sağırlık sendromu · Charcot-Marie-Tooth hastalığı-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118300 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0007311 | E | validated | |
| MeSH | C537986 | E | validated | |
| UMLS | C2931686 | E | validated | |
| GARD | 9190 | 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 (2):
- ORPHA:65753Charcot-Marie-Tooth disease type 1
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PMP22 | Disease-causing germline mutation(s) in | Assessed | HGNC:9118 | ENSG00000109099 | 601097 | 17p12 | peripheral myelin protein 22 | 20301384[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_23224996[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
40 annotations · validated 2021-02-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0002936 | Distal sensory impairment | |
| HP:0001288 | Gait disturbance | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0000615 | Abnormal pupil morphology | |
| HP:0010832 | Abnormality of pain sensation | |
| HP:0031006 | Acroparesthesia | |
| HP:0002522 | Areflexia of lower limbs | |
| HP:0008962 | Calf muscle hypoplasia | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0009130 | Hand muscle atrophy | |
| HP:0030237 | Hand muscle weakness | |
| HP:0002600 | Hyporeflexia of lower limbs | |
| HP:0012391 | Hyporeflexia of upper limbs | |
| HP:0010830 | Impaired tactile sensation | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0009049 | Peroneal muscle atrophy | |
| HP:0011727 | Peroneal muscle weakness | |
| HP:0001761 | Pes cavus | |
| HP:0002172 | Postural instability | |
| HP:0030211 | Slow pupillary light response | |
| HP:0012074 | Tonic pupil | |
| Occasional (29-5%) | ||
| HP:0009916 | Anisocoria | |
| HP:0012735 | Cough | |
| HP:0008110 | Equinovarus deformity | |
| HP:0002141 | Gait imbalance | |
| HP:0001263 | Global developmental delay | |
| HP:0001765 | Hammertoe | |
| HP:0002540 | Inability to walk | |
| HP:0009473 | Joint contracture of the hand | |
| HP:0011476 | Profound sensorineural hearing impairment | |
| HP:0001171 | Split hand | |
| HP:0003376 | Steppage gait | |
| HP:0008124 | Talipes calcaneovarus | |
| HP:0000360 | Tinnitus | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 27774063[PMID]_11920834[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90658
- This record as JSON: /data/d/90658.json