MCID: NPH098
MIFTS: 28

Nephrolithiasis, X-Linked Recessive, with Renal Failure

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Nephrolithiasis, X-Linked Recessive, with Renal Failure

MalaCards integrated aliases for Nephrolithiasis, X-Linked Recessive, with Renal Failure:

Name: Nephrolithiasis, X-Linked Recessive, with Renal Failure 57
X-Linked Recessive Nephrolithiasis with Renal Failure 29 73
Nephrolithiasis, Type I 57 13
Nephrolithiasis 1 57 75
Nephrolithiasis 44 73
Nphl1 57 75
Xrn 57 75
Nephrolithiasis with Renal Failure X-Linked Recessive 75
Nephrolithiasis, X-Linked Recessive, Type 1 57
Urolithiasis, X-Linked Recessive, Type 1 57
Nephrolithiasis 1; Nphl1 57
Kidney Calculi 73

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
variable phenotypic severity
part of 'dent disease complex' (see )
female carriers may have asymptomatic proteinuria or hypercalciuria


HPO:

32
nephrolithiasis, x-linked recessive, with renal failure:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Nephrolithiasis, X-Linked Recessive, with Renal Failure

UniProtKB/Swiss-Prot : 75 Nephrolithiasis 1: An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Nephrolithiasis type 1 presents with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia.

MalaCards based summary : Nephrolithiasis, X-Linked Recessive, with Renal Failure, also known as x-linked recessive nephrolithiasis with renal failure, is related to nephrolithiasis, uric acid and nephrolithiasis, and has symptoms including renal pain An important gene associated with Nephrolithiasis, X-Linked Recessive, with Renal Failure is CLCN5 (Chloride Voltage-Gated Channel 5). Affiliated tissues include kidney and bone, and related phenotypes are tubular atrophy and glomerulosclerosis

OMIM : 57 X-linked recessive nephrolithiasis with renal failure is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009. (310468)

Related Diseases for Nephrolithiasis, X-Linked Recessive, with Renal Failure

Diseases related to Nephrolithiasis, X-Linked Recessive, with Renal Failure via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis, uric acid 12.4
2 nephrolithiasis 12.4
3 nephrolithiasis, calcium oxalate 12.4
4 nephrolithiasis/osteoporosis, hypophosphatemic, 1 12.3
5 nephrolithiasis/osteoporosis, hypophosphatemic, 2 12.3
6 dent disease 1 12.0
7 dominant hypophosphatemia with nephrolithiasis or osteoporosis 11.8
8 adenine phosphoribosyltransferase deficiency 11.3
9 hyperglycinuria 11.3
10 hypouricemia, renal, 1 11.3
11 renal tubular acidosis, distal 11.1
12 hypophosphatemic rickets, x-linked recessive 11.1
13 dent disease 2 11.0
14 renal tubular acidosis, distal, autosomal dominant 10.9
15 hypotonia-cystinuria syndrome 10.9
16 renal tubular acidosis, distal, with hemolytic anemia 10.9
17 hypouricemia, renal, 2 10.9
18 urolithiasis, uric acid, autosomal dominant 10.8
19 acute urate nephropathy 10.8
20 hypercalciuria, absorptive, 2 10.8
21 polycystic kidney disease 1 with or without polycystic liver disease 10.8
22 hyperoxaluria, primary, type i 10.8
23 hyperoxaluria, primary, type ii 10.8
24 renal tubular acidosis, distal, with progressive nerve deafness 10.8
25 renal tubular acidosis, distal, autosomal recessive 10.8
26 parathyroid carcinoma 10.8
27 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.8
28 slc4a1-associated distal renal tubular acidosis 10.8
29 nephrocalcinosis 10.3
30 kidney disease 10.1
31 ureterolithiasis 10.1
32 hyperparathyroidism 10.0
33 medullary sponge kidney 10.0
34 cystinuria 10.0
35 renal tubular acidosis 10.0
36 polycystic kidney disease 10.0
37 aging 10.0
38 primary hyperparathyroidism 10.0
39 pyelonephritis 10.0
40 gout 10.0
41 autosomal dominant polycystic kidney disease 10.0
42 chronic kidney failure 9.9
43 glycogen storage disease 9.9
44 thalassemia 9.9
45 bone disease 9.9
46 hypophosphatemia 9.9
47 hyperuricemia 9.9
48 idiopathic hypercalciuria 9.9
49 osteoporosis 9.8
50 body mass index quantitative trait locus 1 9.8

Comorbidity relations with Nephrolithiasis, X-Linked Recessive, with Renal Failure via Phenotypic Disease Network (PDN): (show all 19)


Acute Cystitis Acute Kidney Failure
Bladder Neck Obstruction Chronic Kidney Failure
Chronic Myocardial Ischemia Deficiency Anemia
Hydronephrosis Hyperparathyroidism
Hypertension, Essential Nephrolithiasis, Uric Acid
Nephrosclerosis Paralytic Ileus
Prostate Cancer Prostatic Hypertrophy
Pyelonephritis Ureterolithiasis
Urethral Calculus Urethral Stricture
Urinary Tract Obstruction

Graphical network of the top 20 diseases related to Nephrolithiasis, X-Linked Recessive, with Renal Failure:



Diseases related to Nephrolithiasis, X-Linked Recessive, with Renal Failure

Symptoms & Phenotypes for Nephrolithiasis, X-Linked Recessive, with Renal Failure

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypercalciuria
microscopic hematuria
low-molecular-weight proteinuria

Genitourinary Kidneys:
nephrocalcinosis
nephrolithiasis
glomerulosclerosis
interstitial fibrosis
proximal renal tubule defect
more

Clinical features from OMIM:

310468

Human phenotypes related to Nephrolithiasis, X-Linked Recessive, with Renal Failure:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 tubular atrophy 32 HP:0000092
2 glomerulosclerosis 32 HP:0000096
3 proximal tubulopathy 32 HP:0000114
4 nephrocalcinosis 32 HP:0000121
5 nephrolithiasis 32 HP:0000787
6 hypercalciuria 32 HP:0002150
7 microscopic hematuria 32 HP:0002907
8 low-molecular-weight proteinuria 32 HP:0003126
9 tubulointerstitial fibrosis 32 HP:0005576
10 chronic kidney disease 32 HP:0012622

UMLS symptoms related to Nephrolithiasis, X-Linked Recessive, with Renal Failure:


renal pain

Drugs & Therapeutics for Nephrolithiasis, X-Linked Recessive, with Renal Failure

Search Clinical Trials , NIH Clinical Center for Nephrolithiasis, X-Linked Recessive, with Renal Failure

Cochrane evidence based reviews: nephrolithiasis

Genetic Tests for Nephrolithiasis, X-Linked Recessive, with Renal Failure

Genetic tests related to Nephrolithiasis, X-Linked Recessive, with Renal Failure:

# Genetic test Affiliating Genes
1 X-Linked Recessive Nephrolithiasis with Renal Failure 29 CLCN5

Anatomical Context for Nephrolithiasis, X-Linked Recessive, with Renal Failure

MalaCards organs/tissues related to Nephrolithiasis, X-Linked Recessive, with Renal Failure:

41
Kidney, Bone

Publications for Nephrolithiasis, X-Linked Recessive, with Renal Failure

Articles related to Nephrolithiasis, X-Linked Recessive, with Renal Failure:

# Title Authors Year
1
X-linked recessive nephrolithiasis with renal failure. ( 1908057 )
1991

Variations for Nephrolithiasis, X-Linked Recessive, with Renal Failure

UniProtKB/Swiss-Prot genetic disease variations for Nephrolithiasis, X-Linked Recessive, with Renal Failure:

75
# Symbol AA change Variation ID SNP ID
1 CLCN5 p.Gly506Glu VAR_001620 rs151340625

Expression for Nephrolithiasis, X-Linked Recessive, with Renal Failure

Search GEO for disease gene expression data for Nephrolithiasis, X-Linked Recessive, with Renal Failure.

Pathways for Nephrolithiasis, X-Linked Recessive, with Renal Failure

GO Terms for Nephrolithiasis, X-Linked Recessive, with Renal Failure

Sources for Nephrolithiasis, X-Linked Recessive, with Renal Failure

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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45 MESH via Orphanet
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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