Nail-patella-like renal disease
Synonyms: Salcedo syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nail-patella-like renal disease | Salcedo syndrome |
| fr | Maladie rénale nail-patella-like | Syndrome de Salcedo |
| de | Nagel-Patella-Syndrom-ähnliche Nierenerkrankung | Salcedo-Syndrom |
| es | Enfermedad renal similar al síndrome uña-rótula | Enfermedad renal síndrome uña-rótula-like · Síndrome de Salcedo |
| it | Malattia renale nail-patella-simile | Sindrome di Salcedo |
| nl | Nagel-patella-achtige nierziekte | Syndroom van Salcedo |
| pt | Doença renal unha-rótula-like | Síndrome Salcedo |
| pl | Choroba nerek podobna do zespołu paznokieć-rzepka | Zespół Salcedo |
| cs | Renální nemoc podobná syndromu nehet-patela | Renální nemoc podobná hereditární osteoonychodysplázii · HOOD syndrom · Salcedoův syndrome |
| uk | Нігті-надколінник-подібна хвороба нирок | Синдром Сальседо |
| zh | 指甲-髌骨样肾脏病 | Salcedo综合征 |
| tr | Tırnak-patella benzeri böbrek hastalığı | Salcedo sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256020 | E | validated | |
| ICD-10 | N07.1 | NTBT | attributed | validated |
| ICD-11 | GB4Y | NTBT | attributed | validated |
| MONDO | 0009724 | E | validated | |
| MeSH | C537228 | E | validated | |
| UMLS | C0403548 | E | validated | |
| GARD | 321 | 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:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMX1B | Disease-causing germline mutation(s) in | Assessed | HGNC:6654 | ENSG00000136944 | 602575 | 9q33.3 | LIM homeobox transcription factor 1 beta | 25713721[PMID]_24042019[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 6507504[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6507504[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
6 annotations · validated 2017-11-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100820 | Glomerulopathy | |
| HP:0000822 | Hypertension | |
| HP:0002907 | Microscopic hematuria | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| HP:0004322 | Short stature | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2613
- This record as JSON: /data/d/2613.json