CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr:
OMIM Id: 215250
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000093) Proteinuria 169 / 7739
2
 (HPO:0008155) Mucopolysacchariduria 6 / 7739
3
 (HPO:0000100) Nephrotic syndrome 83 / 7739
4
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
5
 (HPO:0007957) Corneal opacity 84 / 7739
6
 (HPO:0006462) Generalized bone demineralization 11 / 7739
7
 (HPO:0006577) Macronodular cirrhosis 1 / 7739
8
 (HPO:0004322) Short stature 1232 / 7739
9
 (HPO:0001518) Small for gestational age 107 / 7739
10
 (HPO:0001648) Cor pulmonale 16 / 7739
11
 (HPO:0002843) Abnormality of T cells 7 / 7739
12
 (HPO:0002720) IgA deficiency 33 / 7739
13
 (HPO:0002086) Abnormality of the respiratory system 17 / 7739
14
 (HPO:0002721) Immunodeficiency 97 / 7739
15
 (OMIM) Acid mucopolysacchariduria 1 / 7739
16
 (OMIM) Severe pulmonary disease 1 / 7739
17
 (OMIM) Truncal shortening 2 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (OMIM) Demineralized bones 1 / 7739
20
 (OMIM) Chondroitin-6-sulfaturia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: