X-linked Charcot-Marie-Tooth disease type 5
Synonyms: CMT5X · CMTX5
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic peripheral sensorimotor neuropathy characterized by infancy-to childhood onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked Charcot-Marie-Tooth disease type 5 | CMT5X · CMTX5 |
| fr | Maladie de Charcot-Marie-Tooth liée à l'X type 5 | = en |
| de | Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 5 | CMT5X |
| es | Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X tipo 5 | = en |
| it | Malattia di Charcot-Marie-Tooth legata all'X, tipo 5 | = en |
| nl | X-gebonden ziekte van Charcot-Marie-Tooth type 5 | = en |
| pt | Doença de Charcot-Marie-Tooth ligada ao X tipo 5 | = en |
| pl | Choroba Charcota, Mariego i Tootha typu 5 sprzężona z chromosomem X | = en |
| cs | X-vázaná Charcotova-Marieova-Toothova nemoc, typ 5 | CMT5X · CMTX5 · X-vázaná Charcot-Marie-Toothova nemoc, typ 5 |
| uk | Х-зчеплена хвороба Шарко-Марі-Тута, тип 5 | = en |
| zh | X-连锁腓骨肌萎缩症5型 | CMTX5 |
| tr | X'e bağlı Charcot-Marie-Tooth hastalığı tip 5 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 311070 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0010699 | E | validated | |
| UMLS | C1839566 | E | validated | |
| GARD | 114 | 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 (4):
- ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders - ORPHA:64747X-linked Charcot-Marie-Tooth disease
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRPS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9462 | ENSG00000147224 | 311850 | Xq22.3 | phosphoribosyl pyrophosphate synthetase 1 | 20301731[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17701900[PMID]_20301731[PMID] |
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 17701900[PMID]_20301731[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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040129 | Abnormal nerve conduction velocity | |
| HP:0001284 | Areflexia | |
| HP:0000365 | Hearing impairment | |
| HP:0001324 | Muscle weakness | |
| HP:0000648 | Optic atrophy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001761 | Pes cavus | |
| HP:0000763 | Sensory neuropathy | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| Frequent (79-30%) | ||
| HP:0007328 | Impaired pain sensation | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0001260 | Dysarthria | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0001288 | Gait disturbance | |
| HP:0002808 | Kyphosis | |
| HP:0002463 | Language impairment | |
| HP:0002385 | Paraparesis | |
| HP:0002650 | Scoliosis | |
| HP:0001337 | Tremor | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 20301731[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99014
- This record as JSON: /data/d/99014.json