XRN
MCID: NPH098
MIFTS: 42

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

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 36 29 6 70
Nephrolithiasis, Type I 57 13
Nephrolithiasis 1 57 72
Nephrolithiasis 44 70
Nphl1 57 72
Xrn 57 72
Nephrolithiasis with Renal Failure X-Linked Recessive 72
Nephrolithiasis, X-Linked Recessive, Type 1 57
Urolithiasis, X-Linked Recessive, Type 1 57
Nephrolithiasis 1; Nphl1 57
Kidney Calculi 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

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


HPO:

31
nephrolithiasis, x-linked recessive, with renal failure:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM® 57 310468
KEGG 36 H02147
MeSH 44 D053040
MedGen 41 C0403720
UMLS 70 C0022650 C0392525 C0403720

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

UniProtKB/Swiss-Prot : 72 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, calcium oxalate and dent disease 1, 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). The drugs Mirabegron and Tadalafil have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related phenotypes are nephrocalcinosis and nephrolithiasis

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) (Updated 20-May-2021)

KEGG : 36 X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis. It is characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal failure, associated with mutations in a renal chloride channel gene, CLCN5.

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 367)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis, calcium oxalate 11.7
2 dent disease 1 11.7
3 nephrolithiasis, uric acid 11.6
4 nephrolithiasis/osteoporosis, hypophosphatemic, 1 11.6
5 nephrolithiasis/osteoporosis, hypophosphatemic, 2 11.5
6 hypophosphatemic nephrolithiasis/osteoporosis 11.3
7 azoospermia, obstructive, with nephrolithiasis 11.2
8 hypouricemia, renal, 1 11.1
9 urolithiasis 11.1
10 adenine phosphoribosyltransferase deficiency 11.1
11 hyperglycinuria 11.1
12 hypophosphatemic rickets, x-linked recessive 11.0
13 idiopathic infantile hypercalcemia 11.0
14 hyperoxaluria, primary, type ii 11.0
15 x-linked nephrolithiasis type i 11.0
16 hypotonia-cystinuria syndrome 11.0
17 parathyroid carcinoma 11.0
18 hypouricemia, renal, 2 11.0
19 distal renal tubular acidosis 10.9
20 ureterolithiasis 10.9
21 dominant hypophosphatemia with nephrolithiasis or osteoporosis 10.9
22 hypercalciuria, absorptive, 2 10.9
23 hyperoxaluria, primary, type i 10.9
24 urolithiasis, uric acid, autosomal dominant 10.9
25 dent disease 2 10.9
26 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 10.9
27 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.9
28 urethral calculus 10.8
29 slc4a1-associated distal renal tubular acidosis 10.8
30 hypocalciuric hypercalcemia, familial, type i 10.8
31 polycystic kidney disease 1 with or without polycystic liver disease 10.8
32 renal tubular acidosis, distal, 1 10.8
33 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss 10.8
34 hypocalcemia, autosomal dominant 1 10.8
35 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 10.8
36 renal tubular acidosis, distal, 4, with hemolytic anemia 10.8
37 autosomal dominant distal renal tubular acidosis 10.8
38 hyperparathyroidism 10.7
39 nephrocalcinosis 10.6
40 primary hyperparathyroidism 10.6
41 pyelonephritis 10.5
42 renal tubular acidosis 10.5
43 urinary tract infection 10.5
44 idiopathic hypercalciuria 10.5
45 cystinuria 10.5
46 gout 10.5
47 kidney disease 10.4
48 acute cystitis 10.4
49 hydronephrosis 10.4
50 hyperuricemia 10.4

Comorbidity relations with Nephrolithiasis, X-Linked Recessive, with Renal Failure via Phenotypic Disease Network (PDN): (show all 18)


Acute Cystitis Acute Kidney Failure
Bladder Neck Obstruction Chronic Kidney Disease
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

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nephrocalcinosis 31 HP:0000121
2 nephrolithiasis 31 HP:0000787
3 hypercalciuria 31 HP:0002150
4 proximal tubulopathy 31 HP:0000114
5 chronic kidney disease 31 HP:0012622
6 microscopic hematuria 31 HP:0002907
7 low-molecular-weight proteinuria 31 HP:0003126
8 renal tubular atrophy 31 HP:0000092
9 tubulointerstitial fibrosis 31 HP:0005576
10 glomerular sclerosis 31 HP:0000096

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
nephrocalcinosis
nephrolithiasis
glomerulosclerosis
proximal renal tubule defect
interstitial fibrosis
more
Laboratory Abnormalities:
hypercalciuria
microscopic hematuria
low-molecular-weight proteinuria

Clinical features from OMIM®:

310468 (Updated 20-May-2021)

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


renal pain

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

Drugs for Nephrolithiasis, X-Linked Recessive, with Renal Failure (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 213)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mirabegron Approved Phase 4 223673-61-8 9865528
2
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
3
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
4
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
5
Scopolamine Approved, Investigational Phase 4 51-34-3, 6533-68-2 5184
6
Opium Approved, Illicit Phase 4 8008-60-4
7
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
8
Belladonna Approved, Experimental Phase 4
9
Remifentanil Approved Phase 4 132875-61-7 60815
10
Losartan Approved Phase 4 114798-26-4 3961
11
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
12
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
13
Verapamil Approved Phase 4 52-53-9 2520
14
tannic acid Approved Phase 4 1401-55-4
15
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
16
Ibuprofen Approved Phase 4 15687-27-1 3672
17
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
18
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
19
Vancomycin Approved Phase 4 1404-90-6 441141 14969
20
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
21
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
22
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
23
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
24
Sulfamethoxazole Approved Phase 4 723-46-6 5329
25
Nitrofurantoin Approved, Vet_approved Phase 4 67-20-9 5353830
26
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
27
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
28
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
29
Magnesium citrate Approved Phase 4 3344-18-1
30
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
31
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
32
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
33
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
34
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
35
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
36
Naftopidil Investigational Phase 4 57149-07-2
37
Erythritol Experimental Phase 4 149-32-6 222285
38 Adrenergic beta-3 Receptor Agonists Phase 4
39 Phosphodiesterase Inhibitors Phase 4
40 Phosphodiesterase 5 Inhibitors Phase 4
41 Gentamicins Phase 4
42 Opium Poppy Phase 4
43 Butylscopolammonium Bromide Phase 4
44 Anti-Arrhythmia Agents Phase 4
45 Vasodilator Agents Phase 4
46 Retinol palmitate Phase 4
47 Angiotensin II Type 1 Receptor Blockers Phase 4
48 retinol Phase 4
49 Angiotensin Receptor Antagonists Phase 4
50 Giapreza Phase 4

Interventional clinical trials:

(show top 50) (show all 318)
# Name Status NCT ID Phase Drugs
1 Effect of a Silicone Hydrocoated Double Loop Ureteral Stent on Symptoms and Quality of Life in Patients Undergoing F-URS for Kidney Stone; a Comparative Randomized Multicenter Clinical Study. Unknown status NCT02489656 Phase 4
2 The Effectiveness and Safety of Naftopidil 75mg for Improving Clearance of Ureteral and Renal Stones After Shockwave Lithotripsy: Prospective Randomized Controlled Study Unknown status NCT02011737 Phase 4 naftopidil 75mg
3 Is There Any Relation Between Pain and Stone Location in Retrograde Intrarenal Surgery? Unknown status NCT02430883 Phase 4
4 Comparison of Safety and Efficiency of 20w 30w Holmium Laser Device in Treatment of 1-2 cm Diameter Kidney Stones With RIRS Unknown status NCT02451319 Phase 4
5 Comparison of Safety and Efficiency of 20w and 30w Holmium Laser Device in Management of 2-3 cm Diameter Kidney Stones With Retrograde Intrarenal Surgery Unknown status NCT02443909 Phase 4
6 Ureteral Stent-related Pain and Mirabegron (SPAM) Trial Unknown status NCT02095665 Phase 4 Mirabegron;Tamsulosin;Tylenol #3
7 Impact of Tranexamic Acid Use in Transfusion Rate in Patients With Complex Kidney Stone Undergoing Percutaneous Nephrolithotomy: Randomised, Double-blind, Placebo Controlled Trial Unknown status NCT02966236 Phase 4 Tranexamic Acid;Placebos
8 Medication Facilitated Ureteral Access Sheath Deployment During Ureteroscopy and Endoscopic-Guided Percutaneous Nephrolithotomy: A Randomized Double-Blind Placebo Controlled Trial of Tadalafil, Tamsulosin and Combination Unknown status NCT03229889 Phase 4 Cialis 5Mg Tablet;Flomax 0.4Mg Capsule;Placebo
9 Comparison of RIRS Versus PCNL Methods, According to Postoperative Pain and Analgesic Demand in 2 to 4 cm Renal Stones Unknown status NCT02430168 Phase 4
10 The Use of Belladonna and Opium (B&O) Suppository in the Treatment of Postoperative Stent Pain: A Randomized, Double-Blinded Control Study Completed NCT03332056 Phase 4 Belladonna and Opium
11 Total Intravenous Anaesthesia Using Remifentanil In Extracorporeal Shock Wave Lithotripsy (ESWL). Comparison of Two Dosages. Completed NCT01452880 Phase 4 Remifentanil;Remifentanil
12 Efficacy of Potassium Sodium Hydrogen Citrate Therapy on Renal Stone Recurrence and/or Residual Fragments After Shockwave Lithotripsy and Percutaneous Nephrolithotomy in Calcium Oxalate Urolithiasis Completed NCT01329042 Phase 4 Potassium-sodium citrate
13 A Randomized Controlled Trial for Evaluating Protective Effects of Antioxidants (Selenium and Vitamins A, C and E), Calcium Channel Blocker (Verapamil) and Angiotensin Receptor Blocker (Losartan) Against Extracorporeal Shockwaves Lithotripsy Induced Renal Injury Completed NCT01675362 Phase 4 Antioxidant group;Calcium Channel Blockers;Angiotensin receptor blocker group;Placebo
14 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
15 The EDGE Consortium: A Randomized Trial of Preoperative Prophylactic Antibiotics Prior to Percutaneous Nephrolithotomy: Part 1 Completed NCT02384200 Phase 4 nitrofurantoin monohydrate/macrocrystalline capsules;ampicillin;gentamicin;vancomycin;ceftriaxone
16 The Efficacy of Continuous Intravenous Ketorolac for Postoperative Pain in Percutaneous Nephrolithotomy: a Double Blinded Randomized Placebo Controlled Trial Completed NCT00765128 Phase 4 Ketorolac;Placebo
17 Tamsulosin as Adjunctive Therapy After Extracorporeal Shock Wave Lithotripsy for Renal Stones Completed NCT04819828 Phase 4 Diclofenac;Tamsulosin
18 The Predictors of Successful Oral Dissolution Therapy in Radiolucent Renal Stones; A Prospective Evaluation Completed NCT02373384 Phase 4 Oral alkalinization (Potassium citrate, Allopurinol)
19 Efficacy of Tramadol Hcl in the Treatment of Renal Colic Completed NCT00310908 Phase 4 Tramadol Hcl
20 Prospective Evaluation of Oral Alkalinization by Urologists and Nephrologists: Evolution of the Extracellular Compartment Completed NCT03035812 Phase 4 Alkali
21 Ultrasound-guided Transmuscular Quadratus Lumborum Block for Elective Percutaneous Nephrolithotomy Completed NCT02818140 Phase 4 Ropivacaine;Saline
22 A Prospective Double Blind Randomized Control Trial Comparing Opioid to Non-Opioid Protocol in Managing Postoperative Pain After Ureteroscopy With Stent Placement Completed NCT03872843 Phase 4 Norco 5milligram-325milligram Tablet;Ibuprofen 400 MILLIGRAM in 1 TABLET ORAL TABLET, FILM COATED
23 Study of Ketorolac Versus Opioid for Pain After Endoscopy (SKOPE): A Double-blinded Randomized Control Trial Comparing Outpatient Analgesic Efficacy of NSAIDs and Opioids in Patients Undergoing Ureteroscopy for Kidney Stones Recruiting NCT03888144 Phase 4 Oxycodone;Ketorolac
24 A Multicenter Randomized Controlled Trial Assessing the Efficacy of Antimicrobial Prophylaxis for Extracorporeal Shock Wave Lithotripsy on Reducing Urinary Tract Infection Recruiting NCT03692715 Phase 4 Ciprofloxacin;Placebo
25 A Prospective Randomized Trial of 2 Weeks vs 3 Months of Antibiotics Post Percutaneous Nephrolithotomy for the Prevention of Infection-Related Kidney Stones Recruiting NCT02375295 Phase 4 ciprofloxacin, cotrimoxazole-trimethoprim, macrodantin
26 Pathogenesis of Uric Acid Nephrolithiasis: Role of Pioglitazone/Weight Loss Active, not recruiting NCT04370093 Phase 4 Pioglitazone 45 mg
27 Effectiveness of Prescription vs. Non-prescription Urinary Alkalinizing Agents on Kidney Stone Risk Enrolling by invitation NCT04095975 Phase 4
28 The Effect of Daily Versus Twice Per Day Tamsulosin on Ureteral Stent Symptoms Following Ureteroscopy for Nephrolithiasis Enrolling by invitation NCT03799120 Phase 4 Tamsulosin BID
29 A Prospective, Randomized Study to Evaluate the Safety and Effectiveness of Steerable Ureteroscopic Renal Evacuation(SURE)Using the CVAC™ Aspiration System Compared to Basketing for the Removal of Renal Calculi Following Laser Lithotripsy Not yet recruiting NCT04519294 Phase 4
30 Randomized, Prospective Trial of Regional Erector Spinae Analgesic Block Versus Standard of Care in Patients Undergoing Percutaneous Nephrolithotomy Terminated NCT04663269 Phase 4 4mg PF Dexamethasone;Control Test
31 Randomized Comparison of Two Pre-induction Analgesia Regimens: Multimodal vs Acetaminophen in the Reduction of Post-operative Pain Following Ureteroscopy With Lithotripsy for Kidney Stones Evaluated With Text Messaging Withdrawn NCT03549611 Phase 4 Multimodal Oral Drug Regimen;Acetaminophen
32 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
33 Trial of Randomized Antibiotic Administration in Percutaneous Nephrolithotomy Unknown status NCT02579161 Phase 3 cephalosporins;aminoglycoside;metronidazole;Clindamycin;aminoglycoside/ sulbactam;Fluoroquinolones
34 Effect of Tamsulosin and Nifedipine on the Elimination of Fragments After Extracorporeal Shock Waves Lithotripsy in Patients With Kidney Stones - a Prospective, Double-blind and Randomized Study Unknown status NCT01215708 Phase 3 Tamsulosin
35 Extracorporeal Shock Wave Lithotriptor Indicated for Fragmenting Urinary Stones in the Kidney (Renal Pelvis) Unknown status NCT00959153 Phase 3
36 Evaluation of Alfuzosin as Medical Expulsion Therapy for Ureteral Stones Unknown status NCT00713739 Phase 3 Alfuzosin;nifedipine;doxazosin;prazosin
37 Phase III Randomized, Double-Blind Study of Potassium Phosphate Vs Potassium Citrate for Absorptive Hypercalciuria Completed NCT00004284 Phase 3 potassium citrate;potassium phosphate
38 Alfuzosin Hydrochloride to Promote Passage of Distal Ureteral Calculi Completed NCT00177086 Phase 3
39 Perioperative Pregabalin as Part of a Multimodal Treatment Plan for Pain After Ureteroscopy With Stent Placement: a Pilot Completed NCT03927781 Phase 3 Pregabalin 300mg
40 Efficacy of Renalof in the Dissolution of Renal Calculi in Patients With Recurrent Calcic Lithiasis Completed NCT01022060 Phase 3
41 Pharmacological Modulation of the Intrarenal Pressure During Endourological Procedures in the Upper Urinary Tract Completed NCT00428428 Phase 2, Phase 3 Isoproterenol
42 Visceral Pain Originating From the Upper Urinary Tract - a Randomized Controlled Trial on the Effect of Morphine and Oxycodone in Patients Undergoing Percutaneous Nephrolithotomy (PCNL) Completed NCT00784472 Phase 3 oxycodone;morphine
43 Calcium Nephrolithiasis: Clinical Characteristics and Nutritional Determinants Completed NCT01005082 Phase 2, Phase 3
44 Pain Outcomes of Non-opioid Analgesia After Ureteroscopy or Percutaneous Nephrolithotomy for Nephrolithiasis: a Prospective Randomized Controlled Trial. Recruiting NCT03584373 Phase 3 Ketorolac Oral Tablet [Toradol];Acetaminophen;Oxycodone Acetaminophen
45 Lanthanum Carbonate (Fosrenol®) to Reduce Oxalate Excretion in Patients With Secondary Hyperoxaluria and Nephrolithiasis: a Short-term, Prospective, Open-label, Efficacy and Safety Clinical Trial Recruiting NCT03346369 Phase 3 Lanthanum Carbonate
46 Mirabegron And Ureteral Stent-related Pain (MAP) Trial Recruiting NCT04286152 Phase 3 Mirabegron 50 MG;Placebo oral tablet
47 Fluconazole as a New Therapeutic Tool in Hypercalciuric Patients With Increased 1,25(OH)2D Levels Recruiting NCT04495608 Phase 3 Fluconazole;Placebo
48 Comparison of the 100 W Holmium Laser Lithotripsy Rate Versus LithoClast Trilogy EMS in Percutaneous Mini-nephrolithotomy for Patients With Kidney Stones GUY's 1 and 2: Randomized Clinical Trial Recruiting NCT04559321 Phase 3
49 Safety And Efficacy Of Ultra-Mini Percutaneous Nephrolithotomy In Comparison With Standard Percutaneous Nephrolithotomy For Management Of Renal Calyceal Calculi 1 Cm To 2 Cm In Size. Comparative Randomized Prospective Study Recruiting NCT04764071 Phase 3
50 Perioperative Pregabalin as Part of a Multimodal Treatment Plan for Ureteral Stent Symptoms After Ureteroscopy: a Randomized Controlled Trial Recruiting NCT04122196 Phase 2, Phase 3 Pregabalin 300mg;Placebo oral tablet

Search 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:

40
Kidney, Bone, Liver, Neutrophil, Prostate, Myeloid, Eye

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

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

# Title Authors PMID Year
1
X-linked recessive nephrolithiasis with renal failure. 61 57
1908057 1991
2
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms. 57
15558518 2004
3
X-linked recessive nephrolithiasis: presentation and diagnosis in children. 57
9602200 1998
4
X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. 57
9452994 1998
5
A common molecular basis for three inherited kidney stone diseases. 57
8559248 1996
6
Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. 57
8099916 1993
7
X-linked recessive nephrolithiasis with renal failure. 61
1372109 1992

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

ClinVar genetic disease variations for Nephrolithiasis, X-Linked Recessive, with Renal Failure:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN5 NM_001127898.4(CLCN5):c.2197A>G (p.Thr733Ala) SNV Uncertain significance 930899 GRCh37: X:49855380-49855380
GRCh38: X:50090723-50090723
2 CLCN5 NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) SNV Uncertain significance 11800 rs151340624 GRCh37: X:49855503-49855503
GRCh38: X:50090846-50090846
3 CLCN5 NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln) SNV Uncertain significance 1049202 GRCh37: X:49807060-49807060
GRCh38: X:50042451-50042451

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

72
# Symbol AA change Variation ID SNP ID
1 CLCN5 p.Gly576Glu 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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