Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Synonyms: Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial steroid-resistant nephrotic syndrome with sensorineural deafness | Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss |
| fr | Syndrome néphrotique familial corticorésistant avec surdité neurosensorielle | |
| de | Nephrotisches Syndrom, steroid-resistentes, mit sensorineuraler Hörstörung, familiäre Form | |
| es | Síndrome nefrótico familiar resistente a esteroides asociado a sordera neurosensorial | Síndrome nefrótico familiar resistente a esteroides asociado a hipoacusia neurosensorial |
| it | Sindrome nefrosica familiare resistente agli steroidi con sordità neurosensoriale | |
| nl | Familiaal steroïdresistent nefrotisch syndroom met sensorineurale doofheid | |
| pt | Síndrome nefrótica corticorresistente familiar com surdez neurossensorial | |
| pl | Rodzinny steroidooporny zespół nerczycowy z głuchotą zmysłowo-nerwową | = en |
| cs | Familiární kortikorezistentní nefrotický syndrom se senzorineurální hluchotou | = en |
| uk | Сімейний стероїдорезистентний нефротичний синдром із сенсоневральною глухотою | Сімейний стероїдорезистентний нефротичний синдром із сенсоневральною приглухуватістю |
| zh | 家族性激素抵抗型肾病综合征伴感觉神经性耳聋 | 家族性激素抵抗型肾病综合征伴感觉神经性耳聋 |
| tr | Sensörinöral sağırlık ile seyreden ailesel steroide dirençli nefrotik sendrom | Sensörinöral işitme kaybı ile seyreden ailesel steroide dirençli nefrotik sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614650 | E | validated | |
| ICD-10 | N04.8 | NTBT | attributed | validated |
| ICD-11 | GB41 | NTBT | attributed | validated |
| MONDO | 0013836 | E | validated | |
| UMLS | C5191003 | 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:35656Coenzyme Q10 deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COQ6 | Disease-causing germline mutation(s) in | Assessed | HGNC:20233 | ENSG00000119723 | 614647 | 14q24.3 | coenzyme Q6, monooxygenase | 21540551[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 21540551[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/280406
- This record as JSON: /data/d/280406.json