PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 308990
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003355) Aminoaciduria 65 / 7739
2
(HPO:0000083) Renal insufficiency 232 / 7739
3
(HPO:0000121) Nephrocalcinosis 57 / 7739
4
(HPO:0002907) Microscopic hematuria 27 / 7739
5
(HPO:0000114) Proximal tubulopathy 18 / 7739
6
(HPO:0003076) Glycosuria 32 / 7739
7
(HPO:0003126) Low-molecular-weight proteinuria 7 / 7739
8
(HPO:0002150) Hypercalciuria 45 / 7739
9
(HPO:0000092) Tubular atrophy 28 / 7739
10
(HPO:0000097) Focal segmental glomerulosclerosis 37 / 7739
11
(HPO:0004322) Short stature 1232 / 7739
12
(HPO:0002148) Hypophosphatemia 43 / 7739
13
(HPO:0001419) X-linked recessive inheritance 189 / 7739
14
(OMIM) Renal biopsy shows focal tubular atrophy (in 33%) 1 / 7739
15
(HPO:0003677) Slow progression 134 / 7739
16
(OMIM) A subset of patients develop renal insufficiency with decreased creatinine clearance 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to ...
Clinical Description OMIM Suzuki et al. (1985) identified 5 boys with asymptomatic proteinuria in a screening program of Japanese children. More than 50% of their urinary proteins were those with a molecular weight of less than 40 kD, defined by Suzuki ...
Molecular genetics OMIM In affected members of 4 unrelated Japanese kindreds with LMW proteinuria, Lloyd et al. (1997) identified 4 different mutations in the CLCN5 gene (300008.0001 and 300008.0008-300008.0010).

Nakazato et al. (1997) identified mutations in the CLCN5 gene ...