X-Linked Nephrolithiasis Type I disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0111798

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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.

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Related Diseases for X-Linked Nephrolithiasis Type I

Diseases related to X-Linked Nephrolithiasis Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	nephrolithiasis, x-linked recessive, with renal failure	11.4
2	persistent hyperplastic primary vitreous, autosomal recessive	10.0
3	hepatitis c virus	10.0
4	reading disorder	10.0
5	hepatitis c	10.0
6	hepatitis	10.0
7	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	10.0	TMEM30A ATP8A2
8	cholestasis, progressive familial intrahepatic, 1	9.9	TMEM30A ATP8A2
9	nephrolithiasis, calcium oxalate	9.8
10	nephrolithiasis	9.8
11	progressive familial intrahepatic cholestasis	9.8	TMEM30A ATP8A2

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

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Symptoms & Phenotypes for X-Linked Nephrolithiasis Type I

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Drugs & Therapeutics for X-Linked Nephrolithiasis Type I

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

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Genetic Tests for X-Linked Nephrolithiasis Type I

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Anatomical Context for X-Linked Nephrolithiasis Type I

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

MalaCards : Kidney

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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	Aksenov LI...Routh JC	35344397	2022
2	Thirty-day hospital readmission rate, reasons, and risk factors after acute inpatient cancer rehabilitation. ⁶²	Tennison JM...Bruera E	34313031	2021
3	Nephrogenic adenoma of the urinary tract: A 6-year single center experience. ⁶²	Turcan D...Arik D	28554748	2017
4	Infrared vibrational spectroscopy: a rapid and novel diagnostic and monitoring tool for cystinuria. ⁶²	Oliver KV...Rich PR	27721432	2016
5	Twenty-year experience with laparoscopic and retroperitoneoscopic nephrectomy in children: considerations and details of technique. ⁶²	Esposito C...Settimi A	26281905	2016
6	Dietary and pharmacologic management to prevent recurrent nephrolithiasis in adults: a clinical practice guideline from the American College of Physicians. ⁶²	Qaseem A...Clinical Guidelines Committee of the American College of Physicians	25364887	2014
7	Surgical management of adrenal myelolipoma: a series of 10 patients and review of the literature. ⁶²	Kiriakopoulos A...Linos D	16858306	2006
8	Familial hyperparathyroidism without multiple endocrine neoplasia. ⁶²	Huang SM...Clark OH	8943173	1997
9	Use of extracorporeal shock wave lithotripsy for treatment of nephrolithiasis and ureterolithiasis in five dogs. ⁶²	Block G...Lingeman JE	8603902	1996
10	[Preventive or therapeutic parathyroidectomy in primary hyperparathyroidism]. ⁶²	Buchmann P...Weder W	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	Pylypchuk G...Wilson DR	436047	1979

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Genes for X-Linked Nephrolithiasis Type I

Genes related to X-Linked Nephrolithiasis Type I (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	VIT	Vitrin	Protein Coding	6.4	DISEASES inferred ¹⁴
2	ATP8A2	ATPase Phospholipid Transporting 8A2	Protein Coding	5.62	DISEASES inferred ¹⁴
3	TMEM30A	Transmembrane Protein 30A	Protein Coding	5.59	DISEASES inferred ¹⁴
4	PEAK3	PEAK Family Member 3	Protein Coding	5.28	DISEASES inferred ¹⁴
5	TOM1	Target Of Myb1 Membrane Trafficking Protein	Protein Coding	5.19	DISEASES inferred ¹⁴
6	TLX3	T Cell Leukemia Homeobox 3	Protein Coding	5.08	DISEASES inferred ¹⁴
7	CLCN5	Chloride Voltage-Gated Channel 5	Protein Coding	4.92	DISEASES inferred ¹⁴
8	PCDHA7	Protocadherin Alpha 7	Protein Coding	4.77	DISEASES inferred ¹⁴
9	NKX6-2	NK6 Homeobox 2	Protein Coding	4.68	DISEASES inferred ¹⁴

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Variations for X-Linked Nephrolithiasis Type I

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Expression for X-Linked Nephrolithiasis Type I

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

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Pathways for X-Linked Nephrolithiasis Type I

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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

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Sources for X-Linked Nephrolithiasis Type I

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

XRN MCID: XLN243 MIFTS: 19	X-Linked Nephrolithiasis Type I (XRN) Categories: Genetic diseases, Nephrological diseases	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Related diseases Publications Expand all tables

X-Linked Nephrolithiasis Type I (XRN)

Aliases & Classifications for X-Linked Nephrolithiasis Type I

MalaCards integrated aliases for X-Linked Nephrolithiasis Type I:

Classifications:

External Ids:

Summaries for X-Linked Nephrolithiasis Type I

Related Diseases for X-Linked Nephrolithiasis Type I

Diseases related to X-Linked Nephrolithiasis Type I via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for X-Linked Nephrolithiasis Type I

Drugs & Therapeutics 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:

Publications for X-Linked Nephrolithiasis Type I

Articles related to X-Linked Nephrolithiasis Type I:

Genes for X-Linked Nephrolithiasis Type I

Genes related to X-Linked Nephrolithiasis Type I (0 elite genes):

Variations for X-Linked Nephrolithiasis Type I

Expression 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:

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

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

Sources for X-Linked Nephrolithiasis Type I