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XAN1
MCID: XNT010
MIFTS: 52

Xanthinuria, Type I (XAN1)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Xanthinuria, Type I

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MalaCards integrated aliases for Xanthinuria, Type I:

Name: Xanthinuria, Type I 57 13 54 39 70
Xanthine Dehydrogenase Deficiency 57 20 58 72
Xanthine Oxidase Deficiency 57 20 58 72
Xdh Deficiency 57 20 58 72
Xanthinuria Type 1 20 6
Urolithiasis 44 70
Xan1 57 72
Xanthine Oxidoreductase Deficiency 58
Xanthic Urolithiasis 72
Type 1 Xanthinuria 20
Xanthinuria Type I 58
Xor Deficiency 58
Xo Deficiency 58
Xanthinuria 1 72

Characteristics:

Orphanet epidemiological data:

58
xanthinuria type i
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
xanthinuria, type i:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 278300
OMIM Phenotypic Series 57 PS278300
ICD10 via Orphanet 33 E79.8
UMLS via Orphanet 71 C0268118
Orphanet 58 ORPHA93601
MedGen 41 C0268118
UMLS 70 C0268118 C0451641
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Summaries for Xanthinuria, Type I

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OMIM® : 57 Xanthinuria, which was first described by Dent and Philpot (1954), is characterized by excretion of large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. Two clinically similar but distinct forms of xanthinuria are recognized. In type I there is an isolated deficiency of xanthine dehydrogenase, and in type II (XAN2; 603592) there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase (603592). Type I patients can metabolize allopurinol, whereas type II patients cannot (Simmonds et al., 1995). Xanthinuria also occurs in molybdenum cofactor deficiency (252150). Type II xanthinuria is caused by mutation in the MOCOS gene (613274), which encodes the enzyme that sulfurates the molybdenum cofactor for XDH and AOX1 (602841). (278300) (Updated 20-May-2021)

MalaCards based summary : Xanthinuria, Type I, also known as xanthine dehydrogenase deficiency, is related to xanthinuria and hereditary xanthinuria. An important gene associated with Xanthinuria, Type I is XDH (Xanthine Dehydrogenase), and among its related pathways/superpathways are Drug metabolism - cytochrome P450 and Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics. The drugs Potassium citrate and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and heart, and related phenotypes are myopathy and hydronephrosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93601 Definition Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.

UniProtKB/Swiss-Prot : 72 Xanthinuria 1: A disorder characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. XAN1 is due to isolated xanthine dehydrogenase deficiency. Patients can metabolize allopurinol.

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Related Diseases for Xanthinuria, Type I

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Diseases in the Xanthinuria family:

Xanthinuria, Type I Xanthinuria, Type Ii
Hereditary Xanthinuria

Diseases related to Xanthinuria, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 384)
# Related Disease Score Top Affiliating Genes
1 xanthinuria 31.2 XDH SUOX AOX1
2 hereditary xanthinuria 31.0 XDH SUOX AOX1
3 xanthinuria, type ii 29.4 XDH AOX1
4 molybdenum cofactor deficiency 29.0 XDH SUOX AOX1
5 adenine phosphoribosyltransferase deficiency 11.6
6 nephrolithiasis, calcium oxalate 11.6
7 nephrolithiasis, uric acid 11.5
8 hyperoxaluria, primary, type iii 11.1
9 cystinuria 11.0
10 hyperglycinuria 11.0
11 phosphoribosylpyrophosphate synthetase superactivity 11.0
12 ureterolithiasis 11.0
13 urethral calculus 10.9
14 lesch-nyhan syndrome 10.9
15 urolithiasis, uric acid, autosomal dominant 10.9
16 dent disease 1 10.9
17 nephrolithiasis, x-linked recessive, with renal failure 10.9
18 x-linked nephrolithiasis type i 10.9
19 5-oxoprolinase deficiency 10.9
20 urinary tract infection 10.8
21 acute cystitis 10.6
22 pyelonephritis 10.6
23 hyperparathyroidism 10.6
24 hydronephrosis 10.6
25 primary hyperparathyroidism 10.5
26 idiopathic hypercalciuria 10.4
27 hyperuricemia 10.4
28 kidney disease 10.4
29 cystitis 10.4
30 anuria 10.4
31 renal tubular acidosis 10.3
32 urinary tract obstruction 10.3
33 acute kidney failure 10.3
34 primary hyperoxaluria 10.3
35 ureteral obstruction 10.3
36 dihydroxyadeninuria 10.3
37 horseshoe kidney 10.3
38 pyuria 10.2
39 metabolic acidosis 10.2
40 cholelithiasis 10.2
41 body mass index quantitative trait locus 1 10.2
42 inflammatory bowel disease 10.2
43 chronic pyelonephritis 10.2
44 acute pyelonephritis 10.2
45 crohn's disease 10.2
46 spinal cord injury 10.2
47 bladder calculus 10.2
48 osteoporosis 10.2
49 bone mineral density quantitative trait locus 8 10.2
50 bone mineral density quantitative trait locus 15 10.2

Graphical network of the top 20 diseases related to Xanthinuria, Type I:



Diseases related to Xanthinuria, Type I
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Symptoms & Phenotypes for Xanthinuria, Type I

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Human phenotypes related to Xanthinuria, Type I:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 myopathy 31 HP:0003198
2 hydronephrosis 31 HP:0000126
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 pyelonephritis 31 HP:0012330
5 xanthine nephrolithiasis 31 HP:0000804
6 hyperxanthinemia 31 HP:0010933
7 xanthinuria 31 HP:0010934
8 reduced xanthine dehydrogenase level 31 HP:0003534

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle:
myopathy

Lab:
xanthinuria
low serum and urine uric acid
isolated deficiency of xanthine dehydrogenase
crystalline deposits in skeletal muscle

G U:
hydronephrosis
pyelonephritis
xanthine stones

Clinical features from OMIM®:

278300 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Xanthinuria, Type I according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.62 SUOX
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.62 AOX1 SUOX
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.62 SUOX
4 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.62 SUOX
5 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.62 SUOX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.62 SUOX
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.62 SUOX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-171 9.62 SUOX
9 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.62 AOX1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.62 SUOX
11 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.62 SUOX
12 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.62 SUOX
13 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.62 SUOX
14 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.62 SUOX
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.62 AOX1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.62 AOX1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.62 AOX1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.62 SUOX
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.62 AOX1
Sources

Drugs & Therapeutics for Xanthinuria, Type I

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Drugs for Xanthinuria, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 126)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Potassium citrate Approved, Investigational, Vet_approved Phase 4 866-84-2
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Morphine Approved, Investigational Phase 4 57-27-2 5288826
4
Allopurinol Approved Phase 4 315-30-0 2094
5
Meperidine Approved Phase 4 57-42-1 4058
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7
Febuxostat Approved Phase 4 144060-53-7 134018
8
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
9
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
10
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
11
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
12
Uric acid Investigational Phase 4 69-93-2 1175
13 Vasodilator Agents Phase 4
14 Phosphodiesterase Inhibitors Phase 4
15 Phosphodiesterase 5 Inhibitors Phase 4
16 Sildenafil Citrate Phase 4 171599-83-0
17 Vitamins Phase 4
18 Anesthetics Phase 4
19 Respiratory System Agents Phase 4
20 Anticoagulants Phase 4
21 Chelating Agents Phase 4
22 diuretics Phase 4
23 Expectorants Phase 4
24 Hormones Phase 4
25 Micronutrients Phase 4
26 Trace Elements Phase 4
27 Nutrients Phase 4
28 Calciferol Phase 4
29 Antioxidants Phase 4
30 Narcotics Phase 4
31 Analgesics, Opioid Phase 4
32 Antipyretics Phase 4
33 Antimetabolites Phase 4
34 Protective Agents Phase 4
35 Vitamin D2 Phase 4
36 Ergocalciferols Phase 4
37 Sodium Channel Blockers Phase 4
38 Anti-Arrhythmia Agents Phase 4
39 Anesthetics, Local Phase 4
40 Diuretics, Potassium Sparing Phase 4
41 Adrenergic Antagonists Phase 4
42 Neurotransmitter Agents Phase 4
43 Adrenergic alpha-1 Receptor Antagonists Phase 4
44 Adrenergic alpha-Antagonists Phase 4
45 Adrenergic Agents Phase 4
46 Antirheumatic Agents Phase 4
47 Anti-Inflammatory Agents Phase 4
48 Analgesics Phase 4
49 Anti-Inflammatory Agents, Non-Steroidal Phase 4
50 Cyclooxygenase Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 139)
# Name Status NCT ID Phase Drugs
1 A Randomized, Blank Controlled, Multicenter Clinical Trial of the Effection of Potassium Citrate Extended-release Tablets on Urolithiasis Formation or Recurrence Unknown status NCT03007160 Phase 4 Potassium Citrate Extended-release Tablets
2 Role of Phosphodiesterase 5 Inhibitors (PDE5i) (Sildenafil) in Management of Distal Ureteral Stone Unknown status NCT02519153 Phase 4 Sildenafil
3 Randomized Controlled Trial of Ultrasound Versus CT (Computed Tomography) for Patients in the Emergency Department With Suspected Renal Colic Completed NCT01451931 Phase 4
4 Study of Tamsulosin for Urolithiasis in the Emergency Department Completed NCT00382265 Phase 4 tamsulosin
5 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
6 Intravenous Paracetamol or Morphine for the Treatment of Acute Flank Pain : a Randomized, Double Blind, Controlled Clinical Trial Completed NCT01318187 Phase 4 paracetamol;morphine;Paracetamol;Paracetamol;Morphine
7 The Predictors of Successful Oral Dissolution Therapy in Radiolucent Renal Stones; A Prospective Evaluation Completed NCT02373384 Phase 4 Oral alkalinization (Potassium citrate, Allopurinol)
8 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
9 Efficacy of Pethidine, Ketorolac And Xylocaine Gel As Analgesics For Pain Control In Shockwave Lithotripsy Single Blinded Randomized Controlled Trial Completed NCT03032458 Phase 4 Pethidine;Ketorolac;Xylocaine Gel
10 Department of Urology, Shanghai Xu-hui Central Hospital Enrolling by invitation NCT04398251 Phase 4 Febuxostat 40mg Tab
11 A Prospective, Randomized Study to Evaluate the Safety and Effectiveness of Steerable Ureteroscopic Renal Evacuation(SURE)Using the CVACâ„¢ Aspiration System Compared to Basketing for the Removal of Renal Calculi Following Laser Lithotripsy Not yet recruiting NCT04519294 Phase 4
12 Efectividad de la Tamsulosina Como Tratamiento Adyuvante Previo a Ureterolitotomia Endoscopica Terminated NCT03614052 Phase 4 Tamsulosin Hydrochloride 0.4 milligrams;Placebo Oral Tablet
13 Evaluating Post-operative Pain Management Efficacy of Intra Nasal Ketorolac in Ambulatory Urological Surgeries-A Randomized Double-blinded Placebo Controlled Study Terminated NCT01736358 Phase 4 Intranasal Ketoralac;Placebo
14 Extracorporeal Shock Wave Lithotriptor Indicated for Fragmenting Urinary Stones in the Kidney (Renal Pelvis) Unknown status NCT00959153 Phase 3
15 Efficacy of Renalof in the Dissolution of Renal Calculi in Patients With Recurrent Calcic Lithiasis Completed NCT01022060 Phase 3
16 Perioperative Pregabalin as Part of a Multimodal Treatment Plan for Pain After Ureteroscopy With Stent Placement: a Pilot Completed NCT03927781 Phase 3 Pregabalin 300mg
17 Effect of Cannabidiol Oil on Postoperative Pain After Ureteroscopy for Urinary Calculi Enrolling by invitation NCT04387617 Phase 2, Phase 3 Cannabidiol;Placebo
18 Citrate Salts for Stone-free Result After Flexible Ureterorenoscopy for Inferior Calyx Calculi: a Randomized Placebo Controlled Trial Not yet recruiting NCT04021381 Phase 3
19 A Randomized Controlled Trial Assessing the Efficacy of Antimicrobial Prophylaxis for Extracorporeal Shock Wave Lithotripsy on Reducing Urinary Tract Infection Terminated NCT01873690 Phase 3 Ciprofloxacin;Placebo
20 Prospective Randomized Placebo Controlled Blinded Study to Evaluate the Efficacy of Alfuzosin (Alpha Blocker) on the Success Rates Following SWL. Unknown status NCT00409227 Phase 2 Alpha blocker-alfuzosin;placebo
21 Assessment of Bacterial Adherence and Biofilm Formation on a Triclosan Loaded Ureteral Stent: A Phase II Study Completed NCT00250406 Phase 2
22 Lime Powder Regimen Supplement Alleviates Urinary Metabolic Abnormalities to Prevent Urolithiasis Recurrence. Completed NCT03258190 Phase 2 Lime Powder Regimen
23 Double-Blind, Placebo-Controlled, Concentration-Escalating, Pharmacokinetic Study Evaluating the Systemic Absorption, Safety, and Efficacy of OMS201 in Subjects Undergoing Ureteroscopic Treatment of Ureteral- or Renal Collecting System-Located Stones Completed NCT00857090 Phase 1, Phase 2 OMS201;Vehicle
24 A Double-Blind, Placebo-Controlled Study of Silodosin to Facilitate Urinary Stone Passage Completed NCT01144949 Phase 2 silodosin;placebo
25 Efficacy and Safety of Renalof® in the Removal of Calculi Smaller Than 10 mm Located in the Reno-Ureteral Tract Completed NCT04695951 Phase 2
26 Prospective Randomized Controlled Trial for Pain Relief After Office Ureteral Stent Removal Completed NCT04112160 Phase 2 Ketorolac;normal saline
27 Pharmacological Therapy for Calcium Phosphate Urolithiasis Recruiting NCT01754779 Phase 2 Placebo;Indapamide
28 Toradol to Reduce Ureteroscopic Symptoms Trial Recruiting NCT03111381 Phase 2 Toradol
29 Double-Blind, Placebo-Controlled, Two-Center, Pharmacokinetic Study Evaluating the Systemic Absorption and Safety of OMS201 in Subjects Undergoing Ureteroscopic Treatment of Unilateral Ureteral- or Renal Collecting System-Located Stones Completed NCT00599664 Phase 1 OMS201;Vehicle
30 Metabolic Evaluation of Urolithiasis: Comparison of 24-hour Collecting Urine Prior and After Stone Removal - a Prospective Study Unknown status NCT03846011
31 Prevalence of Pediatric Urolithiasis in Kashgar Area of Xinjiang in China: a Population and Ultrasonography Based Cross-sectional Study Unknown status NCT03003312
32 Comparison of General Anaesthesia and Sedation on the Stone Fragmentation Efficacy of the Third Generation Lithotriptor Unknown status NCT01361516
33 The Effect of Vinegar Consumption on 24-hour Urinary Risk Factors Associated With Calcium Oxalate Urinary Stone Formation: a Randomised Controlled Trial Unknown status NCT02649140
34 Ultrasound Non-contrast Computed Tomography Real-time Fusion for Urinary Stones Follow up Unknown status NCT02539004
35 Effect of Use of Ureteral Access Sheath on Blood and Urine Levels of Netrin-1 in Patients Undergoing Retrograde Intrarenal Surgery Unknown status NCT02533414
36 Under Direct Vision Versus Under Non Direct Vision for The Efficacy and Safety Ureteral Access Sheath in RIRS for the Management of ≤20mm Size Kidney Stones: A Single-center Randomized Controlled Trial Unknown status NCT03717285
37 Measurement of Resistance During UAS Insertion Procedure in RIRS: the Effects of Bladder Filling Degree and the Assessment of Ureter Injury. Unknown status NCT03919227
38 Multi-Center Comparison of Dual Lumen Versus Single Lumen Ureteroscopes Unknown status NCT02123082
39 A Prospective Randomized Study Comparing Single-use Digital Flexible Ureteroscope, Nondisposable Fiber Optic and Digital Ureteroscope in Treatment of Upper Urinary Stone Less Than 2 cm Unknown status NCT03220516
40 Dusting vs Basketing in RIRS: a Single-center Prospective Randomised Trial Unknown status NCT03207659
41 Impact of Total Nephrectomy on Patients With Kidney Stone Unknown status NCT01235104
42 The Links Between Water and Salt Intake, Body Weight, Hypertension and Kidney Stones: a Difficult Puzzle Unknown status NCT01100580
43 Etiological Diagnosis of Urinary Stone in Chinese Children Unknown status NCT02949323
44 Evaluation of Two Different Treatments for Lower Pore Renal Stone: Microperc Vs FURS Unknown status NCT03307096
45 Results of a Prospective Randomized Trial of Safety Guidewire Use in Ureteroscopic Stone Surgery: to Use or Not to Use Unknown status NCT03108053
46 Oral Antibiotic Treatment of Helicobacter Pylori Reduces Intestinal Colonization Rates With Oxalobacter Formigenes Completed NCT01300039
47 Comparison Between Two Shock Wave Regimens Using Frequencies of 60 and 90 Impulses Per Minute for Urinary Stones Completed NCT01222325
48 Emergency Department Targeted Ultrasound for the Detection of Hydronephrosis Completed NCT00555308
49 Hydro II: Emergency Department Ultrasound in Renal Colic Completed NCT01323842
50 Management of Ureteral Calculi Using Ultrasound Guidance: A Radiation Free Approach Completed NCT01792765

Search NIH Clinical Center for Xanthinuria, Type I

Cochrane evidence based reviews: urolithiasis

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Genetic Tests for Xanthinuria, Type I

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Anatomical Context for Xanthinuria, Type I

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MalaCards organs/tissues related to Xanthinuria, Type I:

40
Kidney, Bone, Heart, Liver, Brain, Spinal Cord, Skeletal Muscle
Sources

Publications for Xanthinuria, Type I

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Articles related to Xanthinuria, Type I:

(show all 47)
# Title Authors PMID Year
1
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. 61 54 6 57
9153281 1997
2
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria. 6 61
11379872 2001
3
[Hereditary xanthinuria, rare cause of hypo-uric acidemia. 2 cases]. 57
9767921 1998
4
Hereditary xanthinuria and Ehlers-Danlos syndrome. 57
1293384 1992
5
Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria. 57
2754557 1989
6
Hereditary xanthinuria in 2 Pakistani sisters: asymptomatic in one with beta-thalassemia but causing xanthine stone, obstructive uropathy and hypertension in the other. 57
3339736 1988
7
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. 57
3818951 1987
8
Hereditary xanthinuria presenting in infancy with nephrolithiasis. 57
3755469 1986
9
Xanthinuria : study of a large kindred with familial urolithiasis and gout. 57
861350 1977
10
Hereditary xanthinuria: report on three patients and short review of the literature. 57
927625 1977
11
A new case of xanthinuria. 57
5079766 1972
12
Xanthinuria: an additional case with demonstration of xanthine oxidase deficiency. 57
5549903 1971
13
Xanthinuria with myopathy (with some observations on the renal handling of oxypurines in the disease). 57
5355540 1969
14
[Familial xanthinuria]. 57
5629078 1967
15
CLINICAL, PHYSIOLOGICAL AND BIOCHEMICAL STUDIES OF A PATIENT WITH XANTHINURIA AND PHEOCHROMOCYTOMA. 57
14246087 1964
16
ENZYME DEFECT IN A CASE OF XANTHINURIA. 57
14110004 1964
17
Xanthinuria. 57
13816599 1959
18
Xanthinuria, an inborn error (or deviation) of metabolism. 57
13118765 1954
19
Xanthine urolithiasis. 61 54
20228523 2010
20
The RNAi-mediated silencing of xanthine dehydrogenase impairs growth and fertility and accelerates leaf senescence in transgenic Arabidopsis plants. 61 54
17872919 2007
21
Xanthinuria type I: a rare cause of urolithiasis. 54 61
17115198 2007
22
Purine and pyrimidine metabolites in children's urine. 54 61
12927681 2003
23
XDH gene mutation is the underlying cause of classical xanthinuria: a second report. 54 61
10844591 2000
24
Gout, uric acid and purine metabolism in paediatric nephrology. 54 61
8439471 1993
25
An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming belt. 61
32071838 2020
26
Hereditary xanthinuria is not so rare disorder of purine metabolism. 61
29723117 2018
27
A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase. 61
28508967 2016
28
Xanthinuria type I with a novel mutation of xanthine dehydrogenase. 61
26110747 2015
29
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. 61
23249873 2013
30
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. 61
22981351 2012
31
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. 61
21963464 2012
32
Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient. 61
20077140 2010
33
[Xanthinuria type I as the cause of nephrolithiasis in 17-years old girl]. 61
20842824 2010
34
Successful treatment of molybdenum cofactor deficiency type A with cPMP. 54
20385644 2010
35
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. 54
14551354 2003
36
Atmospheric pressure ionization mass spectrometry of purine and pyrimidine markers of inherited metabolic disorders. 54
12489084 2002
37
Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. 61
11302742 2001
38
Human xanthine dehydrogenase cDNA sequence and protein in an atypical case of type I xanthinuria in comparison with normal subjects. 54
11165212 2001
39
[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)]. 54
10365419 1999
40
[Classical xanthinuria (type I and II)]. 61
9590104 1998
41
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. 54
8976115 1996
42
[Abnormalities in urate metabolism: concept and classification]. 54
8976099 1996
43
Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies. 54
8812740 1996
44
[Hematotoxicity caused by azathioprine genetically determined and aggravated by xanthine oxidase deficiency in a patient following renal transplantation]. 54
7667222 1995
45
In vitro oxidation of pyrazinamide and allopurinol by rat liver aldehyde oxidase. 54
8216357 1993
46
Biochemical investigation of a child with molybdenum cofactor deficiency. 54
2289312 1990
47
Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. 54
2379312 1990
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Variations for Xanthinuria, Type I

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ClinVar genetic disease variations for Xanthinuria, Type I:

6 (show top 50) (show all 191)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 XDH NM_000379.4(XDH):c.682C>T (p.Arg228Ter) SNV Pathogenic 2954 rs119460972 GRCh37: 2:31609391-31609391
GRCh38: 2:31386525-31386525
2 XDH NM_000379.4(XDH):c.2567del (p.Thr856fs) Deletion Pathogenic 2955 rs1572530443 GRCh37: 2:31587088-31587088
GRCh38: 2:31364222-31364222
3 XDH NM_000379.4(XDH):c.445C>T (p.Arg149Cys) SNV Pathogenic 2956 rs72549369 GRCh37: 2:31620584-31620584
GRCh38: 2:31397718-31397718
4 XDH NM_000379.4(XDH):c.3520-1G>C SNV Pathogenic 635517 rs1172253757 GRCh37: 2:31564261-31564261
GRCh38: 2:31341395-31341395
5 XDH NM_000379.4(XDH):c.636dup (p.Pro213fs) Duplication Pathogenic 998349 GRCh37: 2:31610691-31610692
GRCh38: 2:31387825-31387826
6 XDH NM_000379.4(XDH):c.565-1G>A SNV Pathogenic 1030753 GRCh37: 2:31610764-31610764
GRCh38: 2:31387898-31387898
7 XDH NM_000379.4(XDH):c.1450C>T (p.Gln484Ter) SNV Pathogenic 1032322 GRCh37: 2:31598398-31598398
GRCh38: 2:31375532-31375532
8 XDH NM_000379.4(XDH):c.3501C>A (p.Cys1167Ter) SNV Pathogenic 1032323 GRCh37: 2:31565067-31565067
GRCh38: 2:31342201-31342201
9 XDH NM_000379.4(XDH):c.3899del (p.Pro1300fs) Deletion Pathogenic 1032324 GRCh37: 2:31560559-31560559
GRCh38: 2:31337693-31337693
10 XDH NM_000379.4(XDH):c.42+1del Deletion Pathogenic 1032325 GRCh37: 2:31637490-31637490
GRCh38: 2:31414624-31414624
11 XDH NM_000379.4(XDH):c.2751del (p.Gln919fs) Deletion Pathogenic 1027672 GRCh37: 2:31572970-31572970
GRCh38: 2:31350104-31350104
12 XDH NM_000379.4(XDH):c.140dup (p.Cys48fs) Duplication Pathogenic 641114 rs773456900 GRCh37: 2:31625970-31625971
GRCh38: 2:31403104-31403105
13 XDH NM_000379.4(XDH):c.2274del (p.Glu760fs) Deletion Pathogenic 579351 rs760186813 GRCh37: 2:31589784-31589784
GRCh38: 2:31366918-31366918
14 XDH NM_000379.4(XDH):c.3440C>G (p.Ser1147Ter) SNV Likely pathogenic 505904 rs1553411468 GRCh37: 2:31565128-31565128
GRCh38: 2:31342262-31342262
15 XDH NM_000379.4(XDH):c.1686+1G>C SNV Conflicting interpretations of pathogenicity 505602 rs148412639 GRCh37: 2:31596738-31596738
GRCh38: 2:31373872-31373872
16 XDH NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) SNV Uncertain significance 790908 rs139515054 GRCh37: 2:31564244-31564244
GRCh38: 2:31341378-31341378
17 XDH NM_000379.4(XDH):c.3488T>C (p.Val1163Ala) SNV Uncertain significance 576949 rs142988357 GRCh37: 2:31565080-31565080
GRCh38: 2:31342214-31342214
18 XDH NM_000379.4(XDH):c.2441C>T (p.Ala814Val) SNV Uncertain significance 895587 GRCh37: 2:31588857-31588857
GRCh38: 2:31365991-31365991
19 XDH NM_000379.4(XDH):c.2437G>C (p.Val813Leu) SNV Uncertain significance 574241 rs142951412 GRCh37: 2:31588861-31588861
GRCh38: 2:31365995-31365995
20 XDH NM_000379.4(XDH):c.2362A>T (p.Ile788Phe) SNV Uncertain significance 650290 rs141050887 GRCh37: 2:31588936-31588936
GRCh38: 2:31366070-31366070
21 XDH NM_000379.4(XDH):c.2360G>A (p.Arg787Gln) SNV Uncertain significance 850229 GRCh37: 2:31588938-31588938
GRCh38: 2:31366072-31366072
22 XDH NM_000379.4(XDH):c.1726C>T (p.Arg576Trp) SNV Uncertain significance 779628 rs139772558 GRCh37: 2:31595224-31595224
GRCh38: 2:31372358-31372358
23 XDH NM_000379.4(XDH):c.1663C>T (p.Pro555Ser) SNV Uncertain significance 788393 rs45577338 GRCh37: 2:31596762-31596762
GRCh38: 2:31373896-31373896
24 XDH NM_000379.4(XDH):c.670C>T (p.Arg224Trp) SNV Uncertain significance 895715 GRCh37: 2:31609403-31609403
GRCh38: 2:31386537-31386537
25 XDH NM_000379.4(XDH):c.446G>A (p.Arg149His) SNV Uncertain significance 896002 GRCh37: 2:31620583-31620583
GRCh38: 2:31397717-31397717
26 XDH NM_000379.4(XDH):c.2252T>C (p.Ile751Thr) SNV Uncertain significance 640681 rs767059856 GRCh37: 2:31589806-31589806
GRCh38: 2:31366940-31366940
27 XDH NM_000379.4(XDH):c.2037A>C (p.Thr679=) SNV Uncertain significance 716067 rs139998082 GRCh37: 2:31591470-31591470
GRCh38: 2:31368604-31368604
28 XDH NM_000379.4(XDH):c.3930C>T (p.Cys1310=) SNV Uncertain significance 335756 rs138936101 GRCh37: 2:31560528-31560528
GRCh38: 2:31337662-31337662
29 XDH NM_000379.4(XDH):c.1896T>G (p.Phe632Leu) SNV Uncertain significance 851652 GRCh37: 2:31593305-31593305
GRCh38: 2:31370439-31370439
30 XDH NM_000379.4(XDH):c.1885G>T (p.Val629Phe) SNV Uncertain significance 571131 rs148464316 GRCh37: 2:31593316-31593316
GRCh38: 2:31370450-31370450
31 XDH NM_000379.4(XDH):c.859C>G (p.Leu287Val) SNV Uncertain significance 898695 GRCh37: 2:31606648-31606648
GRCh38: 2:31383782-31383782
32 XDH NM_000379.4(XDH):c.1037C>T (p.Ala346Val) SNV Uncertain significance 800266 rs142388231 GRCh37: 2:31605868-31605868
GRCh38: 2:31383002-31383002
33 XDH NM_000379.4(XDH):c.882C>T (p.Pro294=) SNV Uncertain significance 786264 rs138246330 GRCh37: 2:31606625-31606625
GRCh38: 2:31383759-31383759
34 XDH NM_000379.4(XDH):c.822G>A (p.Leu274=) SNV Uncertain significance 715344 rs113345553 GRCh37: 2:31606685-31606685
GRCh38: 2:31383819-31383819
35 XDH NM_000379.4(XDH):c.349A>T (p.Thr117Ser) SNV Uncertain significance 897596 GRCh37: 2:31621523-31621523
GRCh38: 2:31398657-31398657
36 XDH NM_000379.4(XDH):c.3864T>C (p.Gly1288=) SNV Uncertain significance 791699 rs148477626 GRCh37: 2:31560594-31560594
GRCh38: 2:31337728-31337728
37 XDH NM_000379.4(XDH):c.3712A>T (p.Ile1238Phe) SNV Uncertain significance 898503 GRCh37: 2:31562417-31562417
GRCh38: 2:31339551-31339551
38 XDH NM_000379.4(XDH):c.3018T>C (p.Phe1006=) SNV Uncertain significance 711191 rs144883930 GRCh37: 2:31571798-31571798
GRCh38: 2:31348932-31348932
39 XDH NM_000379.4(XDH):c.1868C>T (p.Thr623Ile) SNV Uncertain significance 790933 rs45448694 GRCh37: 2:31593333-31593333
GRCh38: 2:31370467-31370467
40 XDH NM_000379.4(XDH):c.1456G>A (p.Val486Met) SNV Uncertain significance 1030752 GRCh37: 2:31598392-31598392
GRCh38: 2:31375526-31375526
41 XDH NM_000379.4(XDH):c.2634T>C (p.Ile878=) SNV Uncertain significance 335770 rs146994573 GRCh37: 2:31573087-31573087
GRCh38: 2:31350221-31350221
42 XDH NM_000379.4(XDH):c.825T>C (p.Phe275=) SNV Uncertain significance 335794 rs145596057 GRCh37: 2:31606682-31606682
GRCh38: 2:31383816-31383816
43 XDH NM_000379.4(XDH):c.3665C>T (p.Thr1222Ile) SNV Uncertain significance 335759 rs148235835 GRCh37: 2:31562464-31562464
GRCh38: 2:31339598-31339598
44 XDH NM_000379.4(XDH):c.405C>T (p.Thr135=) SNV Uncertain significance 335800 rs72549370 GRCh37: 2:31621467-31621467
GRCh38: 2:31398601-31398601
45 XDH NM_000379.4(XDH):c.1856+7G>A SNV Uncertain significance 335780 rs184028774 GRCh37: 2:31595087-31595087
GRCh38: 2:31372221-31372221
46 XDH NM_000379.4(XDH):c.3052-4C>T SNV Uncertain significance 335767 rs370085305 GRCh37: 2:31571233-31571233
GRCh38: 2:31348367-31348367
47 XDH NM_000379.4(XDH):c.3647C>A (p.Pro1216His) SNV Uncertain significance 335760 rs143981573 GRCh37: 2:31562482-31562482
GRCh38: 2:31339616-31339616
48 XDH NM_000379.4(XDH):c.1274C>G (p.Ser425Cys) SNV Uncertain significance 335788 rs138649664 GRCh37: 2:31600072-31600072
GRCh38: 2:31377206-31377206
49 XDH NM_000379.4(XDH):c.3354C>G (p.Val1118=) SNV Uncertain significance 896914 GRCh37: 2:31567600-31567600
GRCh38: 2:31344734-31344734
50 XDH NM_000379.4(XDH):c.3677G>A (p.Ser1226Asn) SNV Uncertain significance 898504 GRCh37: 2:31562452-31562452
GRCh38: 2:31339586-31339586

UniProtKB/Swiss-Prot genetic disease variations for Xanthinuria, Type I:

72
# Symbol AA change Variation ID SNP ID
1 XDH p.Arg149Cys VAR_045900 rs72549369

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Expression for Xanthinuria, Type I

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Search GEO for disease gene expression data for Xanthinuria, Type I.
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Pathways for Xanthinuria, Type I

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Pathways related to Xanthinuria, Type I according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Drug metabolism - cytochrome P450 36
Show member pathways
 11.99 XDH AOX1
2
Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics 60
10.59 XDH AOX1
3
Effects of Nitric Oxide 1
9.86 XDH AOX1
4
Allopurinol Pathway, Pharmacokinetics 60
9.47 XDH AOX1
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GO Terms for Xanthinuria, Type I

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Biological processes related to Xanthinuria, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transport chain GO:0022900 9.16 XDH AOX1
2 oxidation-reduction process GO:0055114 9.13 XDH SUOX AOX1
3 xanthine catabolic process GO:0009115 8.62 XDH AOX1

Molecular functions related to Xanthinuria, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.5 XDH SUOX AOX1
2 iron ion binding GO:0005506 9.46 XDH AOX1
3 electron transfer activity GO:0009055 9.43 XDH AOX1
4 iron-sulfur cluster binding GO:0051536 9.4 XDH AOX1
5 flavin adenine dinucleotide binding GO:0050660 9.37 XDH AOX1
6 FAD binding GO:0071949 9.26 XDH AOX1
7 2 iron, 2 sulfur cluster binding GO:0051537 9.16 XDH AOX1
8 xanthine dehydrogenase activity GO:0004854 8.96 XDH AOX1
9 molybdopterin cofactor binding GO:0043546 8.8 XDH SUOX AOX1
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Sources for Xanthinuria, Type I

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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