XRN
MCID: XLN243
MIFTS: 19

X-Linked Nephrolithiasis Type I (XRN)

Categories: Genetic diseases, Nephrological diseases
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Aliases & Classifications for X-Linked Nephrolithiasis Type I

MalaCards integrated aliases for X-Linked Nephrolithiasis Type I:

Name: X-Linked Nephrolithiasis Type I 11 14
X-Linked Nephrolithiasis with Renal Failure 11
Nephrolithiasis X-Linked Recessive Type 1 11
X-Linked Recessive Urolithiasis Type 1 11
Nephrolithiasis 1 11
Nphl1 11
Xrn 11

Classifications:



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Disease Ontology 11 DOID:0111798

Summaries for X-Linked Nephrolithiasis Type I

Disease Ontology: 11 A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has material basis in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.23.

MalaCards based summary: X-Linked Nephrolithiasis Type I, also known as x-linked nephrolithiasis with renal failure, is related to nephrolithiasis, x-linked recessive, with renal failure and persistent hyperplastic primary vitreous, autosomal recessive. An important gene associated with X-Linked Nephrolithiasis Type I is VIT (Vitrin). Affiliated tissues include kidney.

Related Diseases for X-Linked Nephrolithiasis Type I

Graphical network of the top 20 diseases related to X-Linked Nephrolithiasis Type I:



Diseases related to X-Linked Nephrolithiasis Type I

Symptoms & Phenotypes for X-Linked Nephrolithiasis Type I

Drugs & Therapeutics for X-Linked Nephrolithiasis Type I

Search Clinical Trials, NIH Clinical Center for X-Linked Nephrolithiasis Type I

Genetic Tests for X-Linked Nephrolithiasis Type I

Anatomical Context for X-Linked Nephrolithiasis Type I

Organs/tissues related to X-Linked Nephrolithiasis Type I:

MalaCards : Kidney

Publications for X-Linked Nephrolithiasis Type I

Articles related to X-Linked Nephrolithiasis Type I:

(show all 11)
# Title Authors PMID Year
1
Behavioral Economics in Urology: A Scoping Review. 62
35344397 2022
2
Thirty-day hospital readmission rate, reasons, and risk factors after acute inpatient cancer rehabilitation. 62
34313031 2021
3
Nephrogenic adenoma of the urinary tract: A 6-year single center experience. 62
28554748 2017
4
Infrared vibrational spectroscopy: a rapid and novel diagnostic and monitoring tool for cystinuria. 62
27721432 2016
5
Twenty-year experience with laparoscopic and retroperitoneoscopic nephrectomy in children: considerations and details of technique. 62
26281905 2016
6
Dietary and pharmacologic management to prevent recurrent nephrolithiasis in adults: a clinical practice guideline from the American College of Physicians. 62
25364887 2014
7
Surgical management of adrenal myelolipoma: a series of 10 patients and review of the literature. 62
16858306 2006
8
Familial hyperparathyroidism without multiple endocrine neoplasia. 62
8943173 1997
9
Use of extracorporeal shock wave lithotripsy for treatment of nephrolithiasis and ureterolithiasis in five dogs. 62
8603902 1996
10
[Preventive or therapeutic parathyroidectomy in primary hyperparathyroidism]. 62
1405951 1992
11
Idiopathic calcium nephrolithiasis. 1. Differences in urine crystalloids, urine saturation with brushite and urine inhibitors of calcification between persons with and persons without recurrent kidney stone formation. 62
436047 1979

Variations for X-Linked Nephrolithiasis Type I

Expression for X-Linked Nephrolithiasis Type I

Search GEO for disease gene expression data for X-Linked Nephrolithiasis Type I.

Pathways for X-Linked Nephrolithiasis Type I

GO Terms for X-Linked Nephrolithiasis Type I

Cellular components related to X-Linked Nephrolithiasis Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 azurophil granule membrane GO:0035577 9.46 TMEM30A TOM1
2 endosome membrane GO:0010008 9.43 ATP8A2 CLCN5 TOM1
3 phospholipid-translocating ATPase complex GO:1990531 8.92 TMEM30A ATP8A2

Biological processes related to X-Linked Nephrolithiasis Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipid translocation GO:0045332 9.46 ATP8A2 TMEM30A
2 phospholipid transport GO:0015914 9.26 ATP8A2 TMEM30A
3 aminophospholipid translocation GO:0140331 9.26 ATP8A2 TMEM30A
4 positive regulation of phospholipid translocation GO:0061092 8.92 TMEM30A ATP8A2

Molecular functions related to X-Linked Nephrolithiasis Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aminophospholipid flippase activity GO:0015247 8.8 TMEM30A ATP8A2

Sources for X-Linked Nephrolithiasis Type I

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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