Charcot-Marie-Tooth disease X-linked recessive 2
disease diseaseOn this page
Also known as Charcot Marie Tooth disease X-linked recessive 2Charcot-Marie-Tooth disease X-linked recessive type 2Charcot-Marie-Tooth disease, X-linked recessive, 2Charcot-Marie-Tooth neuropathy, X-linked recessive, 2Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessiveCMTX 2CMTX2X-linked Charcot-Marie-Tooth disease type 2
Summary
Charcot-Marie-Tooth disease X-linked recessive 2 (MONDO:0010550) 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): 26
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 5 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
26 HPO clinical features (Orphanet curated; top 26 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001284 | Areflexia | Frequent (30-79%) |
| HP:0001288 | Gait disturbance | Frequent (30-79%) |
| HP:0001761 | Pes cavus | Frequent (30-79%) |
| HP:0002378 | Hand tremor | Frequent (30-79%) |
| HP:0002936 | Distal sensory impairment | Frequent (30-79%) |
| HP:0003376 | Steppage gait | Frequent (30-79%) |
| HP:0003431 | Decreased motor nerve conduction velocity | Frequent (30-79%) |
| HP:0003444 | EMG: chronic denervation signs | 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:0009053 | Distal lower limb muscle weakness | Frequent (30-79%) |
| HP:0011399 | Tibialis atrophy | Frequent (30-79%) |
| HP:0011727 | Peroneal muscle weakness | Frequent (30-79%) |
| HP:0030237 | Hand muscle weakness | Frequent (30-79%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (5-29%) |
| HP:0000543 | Optic disc pallor | Occasional (5-29%) |
| HP:0001138 | Optic neuropathy | Occasional (5-29%) |
| HP:0001249 | Intellectual disability | Occasional (5-29%) |
| HP:0001265 | Hyporeflexia | Occasional (5-29%) |
| HP:0001347 | Hyperreflexia | Occasional (5-29%) |
| HP:0002313 | Spastic paraparesis | Occasional (5-29%) |
| HP:0003487 | Babinski sign | Occasional (5-29%) |
| HP:0006801 | Hyperactive deep tendon reflexes | Occasional (5-29%) |
| HP:0007924 | Slow decrease in visual acuity | Occasional (5-29%) |
| HP:0031866 | Clasp-knife sign | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Charcot-Marie-Tooth disease X-linked recessive 2 |
| Mondo ID | MONDO:0010550 |
| MeSH | C535302 |
| OMIM | 302801 |
| Orphanet | 101076 |
| DOID | DOID:0110208 |
| SNOMED CT | 763457000 |
| UMLS | C1844873 |
| MedGen | 336803 |
| GARD | 0001243 |
| Is cancer (heuristic) | no |
Also known as: Charcot Marie Tooth disease X-linked recessive 2 · Charcot-Marie-Tooth disease X-linked recessive type 2 · Charcot-Marie-Tooth disease, X-linked recessive, 2 · Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 · Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive · CMTX 2 · CMTX2 · X-linked Charcot-Marie-Tooth disease type 2
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 2
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 3, 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.