NEPHROSIALIDOSIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 256150
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency 232 / 7739
2
 (HPO:0000100) Nephrotic syndrome 83 / 7739
3
 (HPO:0001999) Abnormal facial shape 169 / 7739
4
 (HPO:0010864) Intellectual disability, severe 120 / 7739
5
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
6
 (HPO:0004333) Bone-marrow foam cells 11 / 7739
7
 (OMIM) Congenital ascites 1 / 7739
8
 (OMIM) Fundus cherry red spot 1 / 7739
9
 (OMIM) Renal epithelial cell damage worst in glomeruli and proximal tubules, with high molecular weight sialyloligosaccharide storage 1 / 7739
10
 (OMIM) Leukocyte alpha-(2-6) neuraminidase defect 1 / 7739
11
 (OMIM) Early-onset pericardial effusion 1 / 7739
12
 (OMIM) Early death 13 / 7739
13
 (OMIM) Visceral storage disease 1 / 7739
14
 (OMIM) Childhood glomerular nephropathy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: