Charcot-Marie-Tooth disease type 4G
Synonyms: CMT4G · HMSNR · Hereditary motor and sensory neuropathy, Russe Type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A form of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities. It was mainly reported in European Roma communities due to founder variants.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 4G | CMT4G · HMSNR · Hereditary motor and sensory neuropathy, Russe Type |
| fr | Maladie de Charcot-Marie-Tooth type 4G | CMT4G · Neuropathie sensitivo-motrice héréditaire type Russe |
| de | Charcot-Marie-Tooth-Krankheit Typ 4G | CMT4G · Neuropathie, hereditäre motorisch-sensorische, Typ Russe |
| es | Enfermedad de Charcot-Marie-Tooth tipo 4G | |
| it | Malattia di Charcot-Marie-Tooth, tipo 4G | Neuropatia sensitivo-motoria ereditaria, tipo Russe |
| nl | Ziekte van Charcot-Marie-Tooth type 4G | CMT4G · HMSNR · Hereditaire motorische en sensorische neuropathie, Russe-type |
| pt | Doença de Charcot-Marie-Tooth tipo 4G | |
| pl | Choroba Charcota, Mariego i Tootha typu 4G | CMT4G · Dziedziczna neuropatia ruchowa i czuciowa, typu Russego · HMSNR |
| cs | Charcotova-Marieova-Toothova nemoc, typ 4G | CMT4G · HMSNR · Hereditární motorická a senzorická neuropatie, typ Russe · Charcot-Marie-Toothova nemoc, typ 4G |
| uk | Хвороба Шарко-Марі-Тута, тип 4G | CMT4G · Спадкова моторна та сенсорна нейропатія, тип Руссе · HMSNR |
| zh | 腓骨肌萎缩症4G型 | Russe型遗传性运动感觉神经病 |
| tr | Charcot-Marie-Tooth hastalığı tip 4G | CMT4G · HMSNR · Kalıtsal motor ve duyusal nöropati, Russe Tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605285 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0011534 | E | validated | |
| MeSH | C535813 | E | validated | |
| UMLS | C1854449 | E | validated | |
| GARD | 10132 | 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 |
|---|---|---|---|---|---|---|---|---|
| HK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4922 | ENSG00000156515 | 142600 | 10q22.1 | hexokinase 1 | 19536174[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Czech Republic | Value and class | Validated | 26822750[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
27 annotations · validated 2020-02-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0001284 | Areflexia | |
| HP:0007230 | Decreased distal sensory nerve action potential | |
| HP:0003431 | Decreased motor nerve conduction velocity | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0002936 | Distal sensory impairment | |
| HP:0003409 | Distal sensory impairment of all modalities | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0012078 | Motor conduction block | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0011096 | Peripheral demyelination | |
| Frequent (79-30%) | ||
| HP:0001155 | Abnormality of the hand | |
| HP:0003693 | Distal amyotrophy | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0010830 | Impaired tactile sensation | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0001761 | Pes cavus | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0001762 | Talipes equinovarus | |
| HP:0009129 | Upper limb amyotrophy | |
| Occasional (29-5%) | ||
| HP:0002141 | Gait imbalance | |
| HP:0007328 | Impaired pain sensation | |
| HP:0002505 | Loss of ambulation | |
| HP:0008081 | Pes valgus | |
| HP:0002650 | Scoliosis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 11601496[PMID]_22978647[PMID]_20301641[PMID]_26822750[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99953
- This record as JSON: /data/d/99953.json