Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Synonyms: CMT2A2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | CMT2A2 |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2A2 | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2A2 | |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2A2 | |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2A2 | = en |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2A2 | = en |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2A2 | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2A2 | = en |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2A2 | CMT2A2 · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2A2 |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2А2 | = en |
| zh | 常染色体显性遗传腓骨肌萎缩症2A2型 | = en |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2A2 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609260 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0012231 | E | validated | |
| UMLS | C4721887 | 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:64746Autosomal dominant Charcot-Marie-Tooth disease type 2
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MFN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:16877 | ENSG00000116688 | 608507 | 1p36.22 | mitofusin 2 | 20301462[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 21715711[PMID]_21715704[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
45 annotations · validated 2019-03-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0003438 | Absent Achilles reflex | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0003390 | Sensory axonal neuropathy | |
| HP:0003474 | Somatic sensory dysfunction | |
| Frequent (79-30%) | ||
| HP:0001155 | Abnormality of the hand | |
| HP:0002522 | Areflexia of lower limbs | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0009046 | Difficulty running | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0002936 | Distal sensory impairment | |
| HP:0025238 | Foot pain | |
| HP:0002359 | Frequent falls | |
| HP:0030237 | Hand muscle weakness | |
| HP:0002378 | Hand tremor | |
| HP:0007328 | Impaired pain sensation | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0006460 | Increased laxity of ankles | |
| HP:0003394 | Muscle spasm | |
| HP:0002601 | Paresis of extensor muscles of the big toe | |
| HP:0001761 | Pes cavus | |
| HP:0007010 | Poor fine motor coordination | |
| Occasional (29-5%) | ||
| HP:0002143 | Abnormality of the spinal cord | |
| HP:0006844 | Absent patellar reflexes | |
| HP:0003487 | Babinski sign | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0001618 | Dysphonia | |
| HP:0001371 | Flexion contracture | |
| HP:0001609 | Hoarse voice | |
| HP:0006915 | Inability to walk by childhood/adolescence | |
| HP:0003401 | Paresthesia | |
| HP:0002174 | Postural tremor | |
| HP:0003731 | Quadriceps muscle weakness | |
| HP:0012452 | Restless legs | |
| HP:0003376 | Steppage gait | |
| HP:0031108 | Triceps weakness | |
| HP:0012513 | Upper limb pain | |
| HP:0001605 | Vocal cord paralysis | |
| Very rare (<4-1%) | ||
| HP:0000238 | Hydrocephalus | |
| HP:0000662 | Nyctalopia | |
| HP:0000648 | Optic atrophy | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30642740[PMID]_30649465[PMID]_27043305[PMID]_27154191[PMID]_9409358[PMID]_18946002[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99947
- This record as JSON: /data/d/99947.json