ORPHA:466768
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Synonyms: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation · CMT2Z
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps, and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to involve also the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes, as well as learning difficulties.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation · CMT2Z |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2Z | CMT2Z · Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de MORC2 |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2Z | CMT2Z · Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch MORC2-Genmutation |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2Z | CMT2Z · Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen MORC2 |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2Z | |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2Z | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 als gevolg van een MORC2-mutatie · CMT2Z |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2Z | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2Z | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 spowodowana mutacją MORC2 · CMT2Z |
| cs | Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2Z | CMT2Z · Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation · Autozomálně dominantní Charcot-Marie-Toothova choroba typu 2 způsobená mutací MORC2 |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2Z | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2, зумовлена мутацією MORC2 · CMT2Z |
| zh | 常染色体显性Charcot-Marie-Tooth病2Z型 | CMT2Z |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2Z | MORC2 mutasyonuna bağlı otozomal baskın Charcot-Marie-Tooth hastalığı tip 2 · CMT2Z |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616688 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0014736 | E | validated | |
| UMLS | C5569025 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:64746Autosomal dominant Charcot-Marie-Tooth disease type 2
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MORC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:23573 | ENSG00000133422 | 616661 | 22q12.2 | MORC family CW-type zinc finger 2 | 26497905[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 26497905[PMID]_26659848[PMID]_26912637[PMID]_27105897[PMID]_27329773[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26497905[PMID]_26659848[PMID]_26912637[PMID]_27105897[PMID]_27329773[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.
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HPO phenotypes
72 annotations · validated 2020-01-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100290 | Abnormality of peripheral somatosensory evoked potentials | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0002460 | Distal muscle weakness | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0007327 | Mixed demyelinating and axonal polyneuropathy | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0003390 | Sensory axonal neuropathy | |
| Frequent (79-30%) | ||
| HP:0040131 | Abnormal motor nerve conduction velocity | |
| HP:0003130 | Abnormal peripheral myelination | |
| HP:0003487 | Babinski sign | |
| HP:0007230 | Decreased distal sensory nerve action potential | |
| HP:0009046 | Difficulty running | |
| HP:0003693 | Distal amyotrophy | |
| HP:0012378 | Fatigue | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0004302 | Functional motor deficit | |
| HP:0001288 | Gait disturbance | |
| HP:0010830 | Impaired tactile sensation | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0001249 | Intellectual disability | |
| HP:0009473 | Joint contracture of the hand | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0008948 | Proximal upper limb amyotrophy | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001328 | Specific learning disability | |
| HP:0001337 | Tremor | |
| HP:0009129 | Upper limb amyotrophy | |
| HP:0003484 | Upper limb muscle weakness | |
| HP:0002493 | Upper motor neuron dysfunction | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0012447 | Abnormal myelination | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0001047 | Atopic dermatitis | |
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0012444 | Brain atrophy | |
| HP:0005879 | Congenital finger flexion contractures | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0007641 | Dyschromatopsia | |
| HP:0002380 | Fasciculations | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0001263 | Global developmental delay | |
| HP:0030237 | Hand muscle weakness | |
| HP:0000365 | Hearing impairment | |
| HP:0001276 | Hypertonia | |
| HP:0002540 | Inability to walk | |
| HP:0003797 | Limb-girdle muscle atrophy | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0003394 | Muscle spasm | |
| HP:0002411 | Myokymia | |
| HP:0000467 | Neck muscle weakness | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0001761 | Pes cavus | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0007269 | Spinal muscular atrophy | |
| HP:0030051 | Tip-toe gait | |
| HP:0012473 | Tongue atrophy | |
| HP:0031947 | Tongue tremor | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000518 | Cataract | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0006597 | Diaphragmatic paralysis | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000252 | Microcephaly | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0001250 | Seizure | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 26497905[PMID]_26659848[PMID]_30624633[PMID]_28678038[PMID]_28771897[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466768
- This record as JSON: /data/d/466768.json