Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Synonyms: RI-CMT type D
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive intermediate Charcot-Marie-Tooth disease type D | RI-CMT type D |
| fr | Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type D | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre, Typ D | RI-CMT Typ D |
| es | Enfermedad de Charcot-Marie-Tooth intermedia autosómica recesiva tipo D | CMT-IR tipo D |
| it | Malattia di Charcot-Marie-Tooth autosomica recessiva intermedia tipo D | RI-CMT, tipo D |
| nl | Autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type D | = en |
| pt | Doença de Charcot-Marie-Tooth intermédia autossómica recessiva tipo D | |
| pl | Autosomalna recesywna pośrednia choroba Charcota, Mariego i Tootha typu D | RI-CMT typu D |
| cs | Autozomálně recesivní intermediární Charcotova-Marieova-Toothova nemoc, typ D | RI-CMT typ D · Autozomálně recesivní intermediární Charcot-Marie-Toothova nemoc, typ D |
| uk | Аутосомно-рецесивна помірно виражена хвороба Шарко-Марі-Тута, тип D | RI-CMT тип D |
| zh | 常染色体隐性遗传性中间性夏科-马里-图斯病D型 | RI-CMT D型 |
| tr | Otozomal resesif geçişli Charcot-Marie-Tooth hastalığı tip D | RI-CMT tip D |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616039 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.2 | NTBT | attributed | validated |
| MONDO | 0014467 | E | validated | |
| UMLS | C5569027 | 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:268337Autosomal recessive intermediate Charcot-Marie-Tooth disease
rare genetic diseases; rare neurological diseases - ORPHA:2443Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
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 |
|---|---|---|---|---|---|---|---|---|
| COX6A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2277 | ENSG00000111775 | 602072 | 12q24.31 | cytochrome c oxidase subunit 6A1 | 25152455[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 25152455[PMID]_26302975[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25152455[PMID]_26302975[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435998
- This record as JSON: /data/d/435998.json