X-linked Charcot-Marie-Tooth disease type 3
Synonyms: CMT3X · CMTX3
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked Charcot-Marie-Tooth disease type 3 | CMT3X · CMTX3 |
| fr | Maladie de Charcot-Marie-Tooth liée à l'X type 3 | = en |
| de | Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 3 | CMTX3 |
| es | Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X tipo 3 | = en |
| it | Malattia di Charcot-Marie-Tooth legata all'X, tipo 3 | = en |
| nl | X-gebonden ziekte van Charcot-Marie-Tooth type 3 | = en |
| pt | Doença de Charcot-Marie-Tooth ligada ao X tipo 3 | |
| pl | Choroba Charcota, Mariego i Tootha typu 3 sprzężona z chromosomem X | = en |
| cs | X-vázaná Charcotova-Marieova-Toothova nemoc, typ 3 | CMT3X · CMTX3 · X-vázaná Charcot-Marie-Toothova nemoc, typ 3 |
| uk | Х-зчеплена хвороба Шарко-Марі-Тута, тип 3 | = en |
| zh | X连锁遗传夏科-马里-图斯病3型 | CMT3 |
| tr | X'e bağlı Charcot-Marie-Tooth hastalığı tip 3 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 302802 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0010551 | E | validated | |
| MeSH | C535303 | E | validated | |
| UMLS | C1844865 | 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:64747X-linked Charcot-Marie-Tooth disease
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 18458969[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18458969[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
28 annotations · validated 2021-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0001284 | Areflexia | |
| HP:0003431 | Decreased motor nerve conduction velocity | |
| HP:0031936 | Delayed ability to walk | |
| HP:0003693 | Distal amyotrophy | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0008110 | Equinovarus deformity | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0001288 | Gait disturbance | |
| HP:0030237 | Hand muscle weakness | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0001270 | Motor delay | |
| HP:0001761 | Pes cavus | |
| HP:0009063 | Progressive distal muscle weakness | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0003474 | Somatic sensory dysfunction | |
| Occasional (29-5%) | ||
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0007149 | Distal upper limb amyotrophy | |
| HP:0001385 | Hip dysplasia | |
| HP:0001265 | Hyporeflexia | |
| HP:0002540 | Inability to walk | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0008081 | Pes valgus | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0002650 | Scoliosis | |
| HP:0001337 | Tremor | |
Annotation source: 26385972[PMID]_29626178[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101077
- This record as JSON: /data/d/101077.json