NPHL1
MCID: NPH098
MIFTS: 24

Nephrolithiasis, X-Linked Recessive, with Renal Failure (NPHL1)

Categories: Bone diseases, 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 58
X-Linked Recessive Nephrolithiasis with Renal Failure 38 30 74
Nephrolithiasis, Type I 58 13
Nephrolithiasis 1 58 76
Nphl1 58 76
Xrn 58 76
Nephrolithiasis with Renal Failure X-Linked Recessive 76
Nephrolithiasis, X-Linked Recessive, Type 1 58
Urolithiasis, X-Linked Recessive, Type 1 58
Nephrolithiasis 1; Nphl1 58
Nephrolithiasis 74
Kidney Calculi 74

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

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


HPO:

33
nephrolithiasis, x-linked recessive, with renal failure:
Inheritance x-linked recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 hepatitis c virus and hepatitis, 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 hypercalciuria and nephrocalcinosis

OMIM : 58 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:

# Related Disease Score Top Affiliating Genes
1 hepatitis c virus 10.1
2 hepatitis 10.1
3 hepatitis c 10.1
4 nephrolithiasis 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

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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypercalciuria 33 HP:0002150
2 nephrocalcinosis 33 HP:0000121
3 nephrolithiasis 33 HP:0000787
4 chronic kidney disease 33 HP:0012622
5 proximal tubulopathy 33 HP:0000114
6 glomerulosclerosis 33 HP:0000096
7 microscopic hematuria 33 HP:0002907
8 tubular atrophy 33 HP:0000092
9 low-molecular-weight proteinuria 33 HP:0003126
10 tubulointerstitial fibrosis 33 HP:0005576

Symptoms via clinical synopsis from OMIM:

58
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

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

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 30 CLCN5

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

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

42
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. ( 1372109 )
1992
2
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:

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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