Nail-patella-like renal disease

General Information (adopted from Orphanet):

Synonyms, Signs: GLOMERULAR BASEMENT MEMBRANE DISEASE, NAIL-PATELLA SYNDROME TYPE
Salcedo syndrome
Number of Symptoms 13
OrphanetNr: 2613
OMIM Id: 256020
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed: 236527004

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary glomerular disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0100820) Glomerulopathy Very frequent [Orphanet] 46 / 7739
2
 (HPO:0000083) Renal insufficiency Very frequent [Orphanet] 232 / 7739
3
 (HPO:0000112) Nephropathy 92 / 7739
4
 (HPO:0000790) Hematuria Very frequent [Orphanet] 106 / 7739
5
 (HPO:0000093) Proteinuria Very frequent [Orphanet] 169 / 7739
6
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
7
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
8
 (HPO:0000822) Hypertension Very frequent [Orphanet] 224 / 7739
9
 (OMIM) Normal nails 15 / 7739
10
 (OMIM) No bone disorder 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) Glomerulodysplasia 1 / 7739
13
 (OMIM) Renal biopsy EM shows glomerular basement membrane changes like nail-patella syndrome 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: