Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Synonyms: Autosomal recessive axonal CMT due to copper metabolism defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Infancy
- Status
- active
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | Autosomal recessive axonal CMT due to copper metabolism defect |
| fr | Maladie de Charcot-Marie-Tooth axonale autosomique récessive due a un défaut du métabolisme du cuivre | |
| de | Autosomal-rezessive axonale Charcot-Marie-Tooth-Krankheit durch Defekt im Kupfermetabolismus | |
| es | Enfermedad de Charcot-Marie-Tooth axonal autosómica recesiva por un defecto del metabolismo del cobre | |
| it | Malattia di Charcot-Marie-Tooth assonale autosomica recessiva da deficit del metabolismo del rame | |
| nl | Autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth door defect kopermetabolisme | |
| pt | Doença Charcot-Marie-Tooth axonal autossómica recessiva por defeito no metabolismo do cobre | |
| pl | Autosomalna, recesywna, aksonalna choroba Charcot-Marie-Tootha spowodowana upośledzeniem metabolizmu miedzi | = en |
| cs | Autozomálně recesivní primárně axonální Charcot-Marie-Toothova nemoc způsobená poruchou metabolismu mědi | = en |
| uk | Аутосомно-рецесивна аксональна хвороба Шарко-Марі-Тута, зумовлена дефектом метаболізму міді | Аутосомно-рецесивна аксональна CMT внаслідок дефекту метаболізму міді |
| zh | 铜代谢缺陷所致常染色体隐性遗传轴索夏科-马里-图斯病 | = en |
| tr | Bakır metabolizma bozukluğuna bağlı otozomal resesif aksonal Charcot-Marie-Tooth hastalığı | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | attributed | validated |
| MONDO | 0033850 | E | validated | |
| UMLS | C5569051 | 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 (3):
- ORPHA:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:309839Disorder of copper metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10604 | ENSG00000284194 | 604272 | 22q13.33 | synthesis of cytochrome C oxidase 2 | 29351582[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 29351582[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29351582[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
21 annotations · validated 2019-03-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010836 | Abnormality of copper homeostasis | |
| HP:0001284 | Areflexia | |
| HP:0002312 | Clumsiness | |
| HP:0001260 | Dysarthria | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0000577 | Exotropia | |
| HP:0001349 | Facial diplegia | |
| HP:0002380 | Fasciculations | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0002359 | Frequent falls | |
| HP:0009055 | Generalized limb muscle atrophy | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0001270 | Motor delay | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0001763 | Pes planus | |
| HP:0000508 | Ptosis | |
| HP:0003376 | Steppage gait | |
| Excluded (0%) | ||
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0001638 | Cardiomyopathy | |
Annotation source: 29351582[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/521411
- This record as JSON: /data/d/521411.json