Charcot-Marie-Tooth disease X-linked recessive 3
disease diseaseOn this page
Also known as Charcot Marie Tooth disease X-linked recessive 3Charcot-Marie-Tooth disease X-linked recessive type 3Charcot-Marie-Tooth disease, X-linked recessive, 3Charcot-Marie-Tooth neuropathy, X-linked recessive, 3Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessiveCMT3XCMTX 3CMTX3X-linked Charcot-Marie-Tooth disease type 3
Summary
Charcot-Marie-Tooth disease X-linked recessive 3 (MONDO:0010551) is a disease. A subtype of Charcot-Marie-Tooth disease type X — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 28
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 4 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
28 HPO clinical features (Orphanet curated; top 28 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001288 | Gait disturbance | Frequent (30-79%) |
| HP:0001270 | Motor delay | Frequent (30-79%) |
| HP:0001284 | Areflexia | Frequent (30-79%) |
| HP:0001760 | Abnormal foot morphology | Frequent (30-79%) |
| HP:0001761 | Pes cavus | Frequent (30-79%) |
| HP:0003431 | Decreased motor nerve conduction velocity | Frequent (30-79%) |
| HP:0003474 | Somatic sensory dysfunction | Frequent (30-79%) |
| HP:0003693 | Distal amyotrophy | Frequent (30-79%) |
| HP:0007141 | Sensorimotor neuropathy | Frequent (30-79%) |
| HP:0008110 | Equinovarus deformity | Frequent (30-79%) |
| HP:0008944 | Distal lower limb amyotrophy | Frequent (30-79%) |
| HP:0008954 | Intrinsic hand muscle atrophy | Frequent (30-79%) |
| HP:0009027 | Foot dorsiflexor weakness | Frequent (30-79%) |
| HP:0009063 | Progressive distal muscle weakness | Frequent (30-79%) |
| HP:0030237 | Hand muscle weakness | Frequent (30-79%) |
| HP:0031936 | Delayed ability to walk | Frequent (30-79%) |
| HP:0001265 | Hyporeflexia | Occasional (5-29%) |
| HP:0001337 | Tremor | Occasional (5-29%) |
| HP:0001385 | Hip dysplasia | Occasional (5-29%) |
| HP:0002091 | Restrictive ventilatory defect | Occasional (5-29%) |
| HP:0002540 | Inability to walk | Occasional (5-29%) |
| HP:0002650 | Scoliosis | Occasional (5-29%) |
| HP:0003477 | Peripheral axonal neuropathy | Occasional (5-29%) |
| HP:0007108 | Demyelinating peripheral neuropathy | Occasional (5-29%) |
| HP:0007149 | Distal upper limb amyotrophy | Occasional (5-29%) |
| HP:0008081 | Pes valgus | Occasional (5-29%) |
| HP:0008994 | Proximal muscle weakness in lower limbs | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Charcot-Marie-Tooth disease X-linked recessive 3 |
| Mondo ID | MONDO:0010551 |
| MeSH | C535303 |
| OMIM | 302802 |
| Orphanet | 101077 |
| DOID | DOID:0110211 |
| SNOMED CT | 763458005 |
| UMLS | C1844865 |
| MedGen | 375530 |
| GARD | 0001244 |
| Is cancer (heuristic) | no |
Also known as: Charcot Marie Tooth disease X-linked recessive 3 · Charcot-Marie-Tooth disease X-linked recessive type 3 · Charcot-Marie-Tooth disease, X-linked recessive, 3 · Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 · Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive · CMT3X · CMTX 3 · CMTX3 · X-linked Charcot-Marie-Tooth disease type 3
Disease family
This is a subtype of Charcot-Marie-Tooth disease type X. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › X-linked disease › Charcot-Marie-Tooth disease type X › Charcot-Marie-Tooth disease X-linked recessive 3
Related subtypes (5): Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked recessive 2, Charcot-Marie-Tooth disease X-linked recessive 4, Charcot-Marie-Tooth disease X-linked recessive 5
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.