SURF1-related Charcot-Marie-Tooth disease type 4
Synonyms: CMT4K · Charcot-Marie-Tooth disease type 4K · SURF1-related CMT4 · SURF1-related severe demyelinating Charcot-Marie-Tooth disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A form of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, areflexia, severely reduced motor nerve conduction velocities (25 m/s or less), and lactic acidosis with mitochondrial complex IV deficiency. Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SURF1-related Charcot-Marie-Tooth disease type 4 | CMT4K · Charcot-Marie-Tooth disease type 4K · SURF1-related CMT4 · SURF1-related severe demyelinating Charcot-Marie-Tooth disease |
| fr | Maladie de Charcot-Marie-Tooth type 4 associée à SURF1 | CMT4 associée à SURF1 · CMT4K · Maladie de Charcot-Marie-Tooth démyélinisante sévère associée à SURF1 · Maladie de Charcot-Marie-Tooth type 4K |
| de | SURF1-abhängige Charcot-Marie-Tooth-Krankheit Typ 4 | CMT4K · Charcot-Marie-Tooth-Krankheit Typ 4K · SURF1-abhängige CMT4 · SURF1-bedingte schwere demyelinisierende Charcot-Marie-Tooth-Krankheit |
| es | Enfermedad de Charcot-Marie-Tooth tipo 4 asociada a SURF1 | CMT4 asociada a SURF1 · CMT4K · Enfermedad de Charcot-Marie-Tooth desmielinizante grave asociada a SURF1 · Enfermedad de Charcot-Marie-Tooth tipo 4K |
| it | Malattia di Charcot-Marie-Tooth SURF1-correlata, tipo 4 | CMT4 SURF1-correlata · CMT4K · Malattia di Charcot-Marie-Tooth demielinizzante grave SURF1-correlata · Malattia di Charcot-Marie-Tooth, tipo 4K |
| nl | SURF1-gerelateerde ziekte van Charcot-Marie-Tooth type 4 | CMT4K · SURF1-gerelateerde CMT4 · SURF1-gerelateerde ernstige demyeliniserende ziekte van Charcot-Marie-Tooth · Ziekte van Charcot-Marie-Tooth type 4K |
| pt | Doença de Charcot-Marie-Tooth tipo 4 SURF1-relacionada | |
| pl | Choroba Charcota, Mariego i Tootha typu 4 związana z SURF1 | Choroba Charcota, Mariego i Tootha typu 4K · Ciężka demielinizacyjna choroba Charcota, Mariego i Tootha związana z SURF1 · CMT4 związana z SURF1 · CMT4K |
| cs | SURF1-vázaná Charcotova-Marieova-Toothova nemoc, typ 4 | CMT4K · Charcotova-Marieova-Toothova nemoc, typ 4K · SURF1-vázaná CMT4 · SURF1-vázaná těžká demyelinizační Charcotova-Marieova-Toothova nemoc · SURF1-vázaná Charcot-Marie-Toothova nemoc, typ 4 · Charcot-Marie-Toothova nemoc, typ 4K · SURF1-vázaná těžká demyelinizační Charcot-Marie-Toothova nemoc |
| uk | Хвороба Шарко-Марі-Тута, тип 4, повязана з SURF1 | Хвороба Шарко-Марі-Тута, тип 4К · CMT4K · CMT4, повязаний з SURF1 · Тяжка демієлінізуюча хвороба Шарко-Марі-Тута, повязана з SURF1 |
| zh | SURF1基因相关夏科-马里-图斯病4型 | SURF1基因相关严重脱髓鞘夏科-马里-图斯病 |
| tr | SURF1-ilişkili Charcot-Marie-Tooth hastalığı tip 4 | CMT4K · SURF1-ilişkili CMT4 · Charcot-Marie-Tooth hastalığı tip 4K · SURF-ilişkili ağır demiyelinizan Charcot-Marie-Tooth hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616684 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | attributed | validated |
| MONDO | 0014733 | E | validated | |
| UMLS | C4225246 | 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:64749Charcot-Marie-Tooth disease type 4
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 |
|---|---|---|---|---|---|---|---|---|
| SURF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11474 | ENSG00000148290 | 185620 | 9q34.2 | SURF1 cytochrome c oxidase assembly factor | 24027061[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24027061[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/391351
- This record as JSON: /data/d/391351.json