NPHL1
MCID: NPH098
MIFTS: 31

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 57
X-Linked Recessive Nephrolithiasis with Renal Failure 37 29 73
Nephrolithiasis, Type I 57 13
Nephrolithiasis 1 57 75
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
Nephrolithiasis 73
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 and hepatitis c virus, 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 : 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:

# Related Disease Score Top Affiliating Genes
1 nephrolithiasis 10.2
2 hepatitis c virus 10.1
3 hepatitis 10.1
4 hepatitis c 10.1

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

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 hypercalciuria 32 HP:0002150
2 nephrocalcinosis 32 HP:0000121
3 nephrolithiasis 32 HP:0000787
4 proximal tubulopathy 32 HP:0000114
5 glomerulosclerosis 32 HP:0000096
6 chronic kidney disease 32 HP:0012622
7 microscopic hematuria 32 HP:0002907
8 tubular atrophy 32 HP:0000092
9 low-molecular-weight proteinuria 32 HP:0003126
10 tubulointerstitial fibrosis 32 HP:0005576

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 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
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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