XAN1
MCID: XNT010
MIFTS: 53

Xanthinuria, Type I (XAN1)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Xanthinuria, Type I

MalaCards integrated aliases for Xanthinuria, Type I:

Name: Xanthinuria, Type I 56 13 54 39 71
Xanthine Dehydrogenase Deficiency 56 52 58 73
Xanthine Oxidase Deficiency 56 52 58 73
Xdh Deficiency 56 52 58 73
Deficiency of Xanthine Oxidase 29 6
Urolithiasis 43 71
Xan1 56 73
Xanthine Oxidoreductase Deficiency 58
Xanthic Urolithiasis 73
Xanthinuria Type 1 52
Type 1 Xanthinuria 52
Xanthinuria Type I 58
Xor Deficiency 58
Xo Deficiency 58
Xanthinuria 1 73

Characteristics:

Orphanet epidemiological data:

58
xanthinuria type i
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
xanthinuria, type i:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

OMIM 56 278300
OMIM Phenotypic Series 56 PS278300
ICD10 via Orphanet 33 E79.8
UMLS via Orphanet 72 C0268118
Orphanet 58 ORPHA93601
MedGen 41 C0268118
UMLS 71 C0268118 C0451641

Summaries for Xanthinuria, Type I

OMIM : 56 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)

MalaCards based summary : Xanthinuria, Type I, also known as xanthine dehydrogenase deficiency, is related to hereditary xanthinuria and 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 Alfuzosin and Nefopam have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and colon, and related phenotypes are myopathy and abnormality of metabolism/homeostasis

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Xanthinuria, Type I

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 378)
# Related Disease Score Top Affiliating Genes
1 hereditary xanthinuria 32.0 XDH SUOX AOX1
2 xanthinuria 31.5 XDH SUOX AOX1
3 molybdenum cofactor deficiency, complementation group a 29.5 XDH SUOX
4 xanthinuria, type ii 29.2 XDH AOX1
5 molybdenum cofactor deficiency 28.6 XDH SUOX AOX1
6 nephrolithiasis, calcium oxalate 12.5
7 adenine phosphoribosyltransferase deficiency 12.4
8 urolithiasis, uric acid, autosomal dominant 12.2
9 nephrolithiasis, uric acid 12.2
10 ureterolithiasis 11.7
11 hyperoxaluria, primary, type iii 11.7
12 urethral calculus 11.7
13 cystinuria 11.6
14 lesch-nyhan syndrome 11.5
15 hyperglycinuria 11.3
16 phosphoribosylpyrophosphate synthetase superactivity 11.3
17 dent disease 1 11.2
18 nephrolithiasis, x-linked recessive, with renal failure 11.2
19 x-linked nephrolithiasis type i 11.2
20 5-oxoprolinase deficiency 11.1
21 acute cystitis 10.8
22 bladder calculus 10.7
23 hyperparathyroidism 10.7
24 pyelonephritis 10.7
25 hydronephrosis 10.6
26 primary hyperparathyroidism 10.5
27 idiopathic hypercalciuria 10.5
28 hyperuricemia 10.5
29 cystitis 10.4
30 anuria 10.4
31 kidney disease 10.4
32 renal tubular acidosis 10.4
33 urinary tract obstruction 10.4
34 acute kidney failure 10.4
35 primary hyperoxaluria 10.4
36 lower urinary tract calculus 10.4
37 horseshoe kidney 10.3
38 pyuria 10.3
39 ureteral obstruction 10.3
40 metabolic acidosis 10.3
41 cholelithiasis 10.3
42 dihydroxyadeninuria 10.3
43 osteoporosis 10.3
44 bone mineral density quantitative trait locus 8 10.3
45 bone mineral density quantitative trait locus 15 10.3
46 chronic pyelonephritis 10.3
47 spinal cord injury 10.3
48 acute pyelonephritis 10.3
49 chronic kidney disease 10.3
50 crohn's disease 10.3

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



Diseases related to Xanthinuria, Type I

Symptoms & Phenotypes for Xanthinuria, Type I

Human phenotypes related to Xanthinuria, Type I:

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

Symptoms via clinical synopsis from OMIM:

56
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

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

Drugs & Therapeutics for Xanthinuria, Type I

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

(show top 50) (show all 165)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
2
Nefopam Approved, Investigational Phase 4 13669-70-0
3
Tranexamic Acid Approved Phase 4 1197-18-8 5526
4
Morphine Approved, Investigational Phase 4 57-27-2 5288826
5
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
6
Acetaminophen Approved Phase 4 103-90-2 1983
7
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
8
Meperidine Approved Phase 4 57-42-1 4058
9
Calcium carbonate Approved, Investigational Phase 4 471-34-1
10
Potassium citrate Approved, Investigational, Vet_approved Phase 4 866-84-2
11
Febuxostat Approved Phase 4 144060-53-7 134018
12
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
13
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
14
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
15
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
16 Phosphodiesterase Inhibitors Phase 4
17 Phosphodiesterase 5 Inhibitors Phase 4
18 Vasodilator Agents Phase 4
19 Sildenafil Citrate Phase 4 171599-83-0
20 Hemostatics Phase 4
21 Antifibrinolytic Agents Phase 4
22 Coagulants Phase 4
23 Adrenergic Agents Phase 4
24 Neurotransmitter Agents Phase 4
25 Hormones Phase 4
26 Antipyretics Phase 4
27 Anticoagulants Phase 4
28 Analgesics, Opioid Phase 4
29 Gastrointestinal Agents Phase 4
30 Trace Elements Phase 4
31 Micronutrients Phase 4
32 Vitamins Phase 4
33 Nutrients Phase 4
34 Calciferol Phase 4
35 Chelating Agents Phase 4
36 Narcotics Phase 4
37 Cholinergic Agents Phase 4
38 Muscarinic Antagonists Phase 4
39 Tolterodine tartrate Phase 4 124937-52-6
40 Cholinergic Antagonists Phase 4
41 Ergocalciferols Phase 4
42 Vitamin D2 Phase 4
43 Sodium Channel Blockers Phase 4
44 Anti-Arrhythmia Agents Phase 4
45 Diuretics, Potassium Sparing Phase 4
46 Anesthetics, Local Phase 4
47 Antacids Phase 4
48 Anti-Ulcer Agents Phase 4
49 Calcium Supplement Phase 4
50 Expectorants Phase 4

Interventional clinical trials:

(show top 50) (show all 167)
# Name Status NCT ID Phase Drugs
1 Role of Phosphodiesterase 5 Inhibitors (PDE5i) (Sildenafil) in Management of Distal Ureteral Stone Unknown status NCT02519153 Phase 4 Sildenafil
2 A Single Center, Prospective Randomized Double-blind Trial: Efficacy of Nefopam and Morphine in Balanced Analgesia for Acute Ureteric Colic Unknown status NCT01543165 Phase 4 Ketorolac and nefopam balanced analgesia;Balanced analgesia using ketorolac and morphine;Pain control with single analgesics (ketorolac)
3 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
4 The Efficacy of Alpha-blockers for Expulsion of Distal Ureteral Stones Unknown status NCT00451061 Phase 4 Alfuzosin;Tamsulosin
5 Study of Tamsulosin for Urolithiasis in the Emergency Department Completed NCT00382265 Phase 4 tamsulosin
6 Randomized Controlled Trial of Ultrasound Versus CT (Computed Tomography) for Patients in the Emergency Department With Suspected Renal Colic Completed NCT01451931 Phase 4
7 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
8 The Predictors of Successful Oral Dissolution Therapy in Radiolucent Renal Stones; A Prospective Evaluation Completed NCT02373384 Phase 4 Oral alkalinization (Potassium citrate, Allopurinol)
9 A Double Blind, Multi-arm Randomized Control Trial, for Efficacy of Intramuscular Diclofenac Versus Intravenous Morphine Versus Intravenous Paracetamol, in Renal Colic Emergency Department Pain Management Completed NCT02187614 Phase 4 Diclofenac;Morphine;Paracetamol;Placebos
10 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
11 Combination Versus Monotherapy With Alpha Blocker and Anticholinergics to Relieve Urinary Stent Symptoms Completed NCT01741454 Phase 4 Tamsulosin;Tolterodine ER
12 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
13 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
14 CALCIUM CITRATE vs CALCIUM CARBONATE FOR THE MANAGEMENT OF CHRONIC HYPOPARATHYROIDISM Completed NCT03425747 Phase 4 Calcium Carbonate;Calcium Citrate
15 A Randomized, Blank Controlled, Multicenter Clinical Trial of the Effection of Potassium Citrate Extended-release Tablets on Urolithiasis Formation or Recurrence Recruiting NCT03007160 Phase 4 Potassium Citrate Extended-release Tablets
16 Department of Urology, Shanghai Xu-hui Central Hospital Enrolling by invitation NCT04398251 Phase 4 Febuxostat 40mg Tab
17 Efectividad de la Tamsulosina Como Tratamiento Adyuvante Previo a Ureterolitotomia Endoscopica Terminated NCT03614052 Phase 4 Tamsulosin Hydrochloride 0.4 milligrams;Placebo Oral Tablet
18 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
19 Extracorporeal Shock Wave Lithotriptor Indicated for Fragmenting Urinary Stones in the Kidney (Renal Pelvis) Unknown status NCT00959153 Phase 3
20 Evaluation of Alfuzosin as Medical Expulsion Therapy for Ureteral Stones Unknown status NCT00713739 Phase 3 Alfuzosin;nifedipine;doxazosin;prazosin
21 Efficacy of Renalof in the Dissolution of Renal Calculi in Patients With Recurrent Calcic Lithiasis Completed NCT01022060 Phase 3
22 Calcium for Pre-Eclampsia Prevention (CPEP) Completed NCT00000534 Phase 3 calcium
23 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
24 Effects of Allopurinol on Inflammatory Markers and Morphostructural Changes Evidenced by Musculoskeletal Ultrasound in Individuals With Asymptomatic Hyperuricemia. A Proof of Concept Recruiting NCT04012294 Phase 3 Allopurinol Pill
25 Perioperative Pregabalin as Part of a Multimodal Treatment Plan for Pain After Ureteroscopy With Stent Placement: a Pilot Active, not recruiting NCT03927781 Phase 3 Pregabalin 300mg
26 Citrate Salts for Stone-free Result After Flexible Ureterorenoscopy for Inferior Calyx Calculi: a Randomized Placebo Controlled Trial Not yet recruiting NCT04021381 Phase 3
27 Effect of Cannabidiol Oil on Postoperative Pain After Ureteroscopy for Urinary Calculi Not yet recruiting NCT04387617 Phase 2, Phase 3 Cannabidiol;Placebo
28 Perioperative Pregabalin as Part of a Multimodal Treatment Plan for Ureteral Stent Symptoms After : a Randomized Controlled Trial Not yet recruiting NCT04122196 Phase 2, Phase 3 Pregabalin 300mg;Placebo oral tablet
29 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
30 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
31 A Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Effect of Adjuvant Treatment With Compound Cranberry Extract Tablets (UmayC) in Acute Bacterial Cystitis. Unknown status NCT00305071 Phase 2 compound cranberry extract tablet
32 Lime Powder Regimen Supplement Alleviates Urinary Metabolic Abnormalities to Prevent Urolithiasis Recurrence. Completed NCT03258190 Phase 2 Lime Powder Regimen
33 A Double-Blind, Placebo-Controlled Study of Silodosin to Facilitate Urinary Stone Passage Completed NCT01144949 Phase 2 silodosin;placebo
34 PILOTSTUDIE ZUR PYRIDOXALPHOSPHATTHERAPIE BEI PATIENTEN MIT PRIMÄRER HYPEROXALURIE TYP I (PHOX-B6-PILOT) Pilot Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2 Vitamin B 6
35 Assessment of Bacterial Adherence and Biofilm Formation on a Triclosan Loaded Ureteral Stent: A Phase II Study Completed NCT00250406 Phase 2
36 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
37 Use of Oral Probiotics to Reduce Urinary Oxalate Excretion Completed NCT00587041 Phase 1, Phase 2
38 Phase II, Dose-Response, Safety and Efficacy Study of Oral TMX-67 in Subjects With Gout. Completed NCT00174967 Phase 2 Placebo;Febuxostat;Febuxostat;Febuxostat
39 Prospective Randomized Controlled Trial for Pain Relief After Office Ureteral Stent Removal Completed NCT04112160 Phase 2 Ketorolac;normal saline
40 UTI Prophylaxis Using Bacterial Interference Following SCI Completed NCT00037921 Phase 2
41 A Randomized, Double-blind, Placebo-controlled, Dose-ranging Trial of Oral Inosine to Assess Safety and Ability to Elevate Urate in Early Parkinson's Disease Completed NCT00833690 Phase 2 Placebo;inosine;inosine
42 Pharmacological Therapy for Calcium Phosphate Urolithiasis Recruiting NCT01754779 Phase 2 Placebo;Indapamide
43 Toradol to Reduce Ureteroscopic Symptoms Trial Recruiting NCT03111381 Phase 2 Toradol
44 Treatment of Renal Stones With Frankincense (Boswellic Acid): A Clinical Randomized Trial Not yet recruiting NCT03924596 Phase 1, Phase 2 AKBA-Incense (3-acetyl-11-keto-ß-boswellic acid);Potassium Sodium Hydrogen Citrate
45 A Multi-Site Placebo-Controlled Randomized Double-Blind Study to Evaluate the Efficacy and Safety of Using MPC-5971 as Adjuvant Therapy in Subjects Undergoing Shock Wave Lithotripsy Terminated NCT00860093 Phase 2 MPC-5971
46 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
47 Impact of Total Nephrectomy on Patients With Kidney Stone Unknown status NCT01235104
48 Ultrasound Non-contrast Computed Tomography Real-time Fusion for Urinary Stones Follow up Unknown status NCT02539004
49 Comparison of General Anaesthesia and Sedation on the Stone Fragmentation Efficacy of the Third Generation Lithotriptor Unknown status NCT01361516
50 Prevalence of Pediatric Urolithiasis in Kashgar Area of Xinjiang in China: a Population and Ultrasonography Based Cross-sectional Study Unknown status NCT03003312

Search NIH Clinical Center for Xanthinuria, Type I

Cochrane evidence based reviews: urolithiasis

Genetic Tests for Xanthinuria, Type I

Genetic tests related to Xanthinuria, Type I:

# Genetic test Affiliating Genes
1 Deficiency of Xanthine Oxidase 29 XDH

Anatomical Context for Xanthinuria, Type I

MalaCards organs/tissues related to Xanthinuria, Type I:

40
Kidney, Bone, Colon, Liver, Skeletal Muscle, Neutrophil, Testes

Publications for Xanthinuria, Type I

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 56 6
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]. 56
9767921 1998
4
Hereditary xanthinuria and Ehlers-Danlos syndrome. 56
1293384 1992
5
Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria. 56
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. 56
3339736 1988
7
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. 56
3818951 1987
8
Hereditary xanthinuria presenting in infancy with nephrolithiasis. 56
3755469 1986
9
Xanthinuria : study of a large kindred with familial urolithiasis and gout. 56
861350 1977
10
Hereditary xanthinuria: report on three patients and short review of the literature. 56
927625 1977
11
A new case of xanthinuria. 56
5079766 1972
12
Xanthinuria: an additional case with demonstration of xanthine oxidase deficiency. 56
5549903 1971
13
Xanthinuria with myopathy (with some observations on the renal handling of oxypurines in the disease). 56
5355540 1969
14
[Familial xanthinuria]. 56
5629078 1967
15
CLINICAL, PHYSIOLOGICAL AND BIOCHEMICAL STUDIES OF A PATIENT WITH XANTHINURIA AND PHEOCHROMOCYTOMA. 56
14246087 1964
16
ENZYME DEFECT IN A CASE OF XANTHINURIA. 56
14110004 1964
17
Xanthinuria. 56
13816599 1959
18
Xanthinuria, an inborn error (or deviation) of metabolism. 56
13118765 1954
19
Xanthine urolithiasis. 54 61
20228523 2010
20
The RNAi-mediated silencing of xanthine dehydrogenase impairs growth and fertility and accelerates leaf senescence in transgenic Arabidopsis plants. 54 61
17872919 2007
21
Xanthinuria type I: a rare cause of urolithiasis. 54 61
17115198 2007
22
Purine and pyrimidine metabolites in children's urine. 61 54
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
[Abnormalities in urate metabolism: concept and classification]. 54
8976099 1996
42
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. 54
8976115 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

Variations for Xanthinuria, Type I

ClinVar genetic disease variations for Xanthinuria, Type I:

6 (show top 50) (show all 181) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 XDH NM_000379.4(XDH):c.3520-1G>CSNV Pathogenic 635517 2:31564261-31564261 2:31341395-31341395
2 XDH NM_000379.4(XDH):c.682C>T (p.Arg228Ter)SNV Pathogenic 2954 rs119460972 2:31609391-31609391 2:31386525-31386525
3 XDH NM_000379.4(XDH):c.2567del (p.Thr856fs)deletion Pathogenic 2955 2:31587088-31587088 2:31364222-31364222
4 XDH NM_000379.4(XDH):c.445C>T (p.Arg149Cys)SNV Pathogenic 2956 rs72549369 2:31620584-31620584 2:31397718-31397718
5 XDH NM_000379.4(XDH):c.3440C>G (p.Ser1147Ter)SNV Likely pathogenic 505904 rs1553411468 2:31565128-31565128 2:31342262-31342262
6 XDH NM_000379.4(XDH):c.3864T>C (p.Gly1288=)SNV Conflicting interpretations of pathogenicity 791699 2:31560594-31560594 2:31337728-31337728
7 XDH NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr)SNV Conflicting interpretations of pathogenicity 790908 2:31564244-31564244 2:31341378-31341378
8 XDH NM_000379.4(XDH):c.1868C>T (p.Thr623Ile)SNV Conflicting interpretations of pathogenicity 790933 2:31593333-31593333 2:31370467-31370467
9 XDH NM_000379.4(XDH):c.1726C>T (p.Arg576Trp)SNV Conflicting interpretations of pathogenicity 779628 2:31595224-31595224 2:31372358-31372358
10 XDH NM_000379.4(XDH):c.1663C>T (p.Pro555Ser)SNV Conflicting interpretations of pathogenicity 788393 2:31596762-31596762 2:31373896-31373896
11 XDH NM_000379.4(XDH):c.882C>T (p.Pro294=)SNV Conflicting interpretations of pathogenicity 786264 2:31606625-31606625 2:31383759-31383759
12 XDH NM_000379.4(XDH):c.3018T>C (p.Phe1006=)SNV Conflicting interpretations of pathogenicity 711191 2:31571798-31571798 2:31348932-31348932
13 XDH NM_000379.4(XDH):c.2037A>C (p.Thr679=)SNV Conflicting interpretations of pathogenicity 716067 2:31591470-31591470 2:31368604-31368604
14 XDH NM_000379.4(XDH):c.1042G>A (p.Val348Ile)SNV Conflicting interpretations of pathogenicity 744561 2:31604589-31604589 2:31381723-31381723
15 XDH NM_000379.4(XDH):c.1037C>T (p.Ala346Val)SNV Conflicting interpretations of pathogenicity 800266 2:31605868-31605868 2:31383002-31383002
16 XDH NM_000379.4(XDH):c.822G>A (p.Leu274=)SNV Conflicting interpretations of pathogenicity 715344 2:31606685-31606685 2:31383819-31383819
17 XDH NM_000379.4(XDH):c.1686+1G>CSNV Conflicting interpretations of pathogenicity 505602 rs148412639 2:31596738-31596738 2:31373872-31373872
18 XDH NM_000379.4(XDH):c.2634T>C (p.Ile878=)SNV Conflicting interpretations of pathogenicity 335770 rs146994573 2:31573087-31573087 2:31350221-31350221
19 XDH NM_000379.4(XDH):c.606G>A (p.Thr202=)SNV Conflicting interpretations of pathogenicity 335797 rs752308380 2:31610722-31610722 2:31387856-31387856
20 XDH NM_000379.4(XDH):c.405C>T (p.Thr135=)SNV Conflicting interpretations of pathogenicity 335800 rs72549370 2:31621467-31621467 2:31398601-31398601
21 XDH NM_000379.4(XDH):c.3930C>T (p.Cys1310=)SNV Conflicting interpretations of pathogenicity 335756 rs138936101 2:31560528-31560528 2:31337662-31337662
22 XDH NM_000379.4(XDH):c.3052-4C>TSNV Conflicting interpretations of pathogenicity 335767 rs370085305 2:31571233-31571233 2:31348367-31348367
23 XDH NM_000379.4(XDH):c.1856+7G>ASNV Conflicting interpretations of pathogenicity 335780 rs184028774 2:31595087-31595087 2:31372221-31372221
24 XDH NM_000379.4(XDH):c.1274C>G (p.Ser425Cys)SNV Conflicting interpretations of pathogenicity 335788 rs138649664 2:31600072-31600072 2:31377206-31377206
25 XDH NM_000379.4(XDH):c.825T>C (p.Phe275=)SNV Conflicting interpretations of pathogenicity 335794 rs145596057 2:31606682-31606682 2:31383816-31383816
26 XDH NM_000379.4(XDH):c.1687-8C>ASNV Uncertain significance 335784 rs370270278 2:31595271-31595271 2:31372405-31372405
27 XDH NM_000379.4(XDH):c.3249C>T (p.Ser1083=)SNV Uncertain significance 335763 rs45562835 2:31570415-31570415 2:31347549-31347549
28 XDH NM_000379.4(XDH):c.2268C>T (p.Gly756=)SNV Uncertain significance 335773 rs886055946 2:31589790-31589790 2:31366924-31366924
29 XDH NM_000379.4(XDH):c.1901G>T (p.Cys634Phe)SNV Uncertain significance 335778 rs886055947 2:31593300-31593300 2:31370434-31370434
30 XDH NM_000379.4(XDH):c.2851G>A (p.Gly951Arg)SNV Uncertain significance 335769 rs142675390 2:31572670-31572670 2:31349804-31349804
31 XDH NM_000379.4(XDH):c.2176G>C (p.Glu726Gln)SNV Uncertain significance 335775 rs61731083 2:31590848-31590848 2:31367982-31367982
32 XDH NM_000379.4(XDH):c.1749G>A (p.Ala583=)SNV Uncertain significance 335783 rs141831710 2:31595201-31595201 2:31372335-31372335
33 XDH NM_000379.4(XDH):c.*1491A>GSNV Uncertain significance 335736 rs886055940 2:31557333-31557333 2:31334467-31334467
34 XDH NM_000379.4(XDH):c.*945C>ASNV Uncertain significance 335742 rs567451050 2:31557879-31557879 2:31335013-31335013
35 XDH NM_000379.4(XDH):c.*829G>ASNV Uncertain significance 335747 rs886055944 2:31557995-31557995 2:31335129-31335129
36 XDH NM_000379.4(XDH):c.*1452C>TSNV Uncertain significance 335738 rs886055941 2:31557372-31557372 2:31334506-31334506
37 XDH NM_000379.4(XDH):c.*938G>TSNV Uncertain significance 335743 rs193245354 2:31557886-31557886 2:31335020-31335020
38 XDH NM_000379.4(XDH):c.*475A>CSNV Uncertain significance 335752 rs372973524 2:31558349-31558349 2:31335483-31335483
39 XDH NM_000379.4(XDH):c.530C>A (p.Pro177Gln)SNV Uncertain significance 335798 rs781730239 2:31611127-31611127 2:31388261-31388261
40 XDH NM_000379.4(XDH):c.2911G>A (p.Glu971Lys)SNV Uncertain significance 335768 rs148921536 2:31572610-31572610 2:31349744-31349744
41 XDH NM_000379.4(XDH):c.1800C>T (p.Tyr600=)SNV Uncertain significance 335781 rs139964785 2:31595150-31595150 2:31372284-31372284
42 XDH NM_000379.4(XDH):c.1242+7T>CSNV Uncertain significance 335790 rs751688778 2:31602726-31602726 2:31379860-31379860
43 XDH NM_000379.4(XDH):c.617C>T (p.Pro206Leu)SNV Uncertain significance 335796 rs201332711 2:31610711-31610711 2:31387845-31387845
44 XDH NM_000379.4(XDH):c.*1407C>TSNV Uncertain significance 335739 rs886055942 2:31557417-31557417 2:31334551-31334551
45 XDH NM_000379.4(XDH):c.*823A>GSNV Uncertain significance 335748 rs886055945 2:31558001-31558001 2:31335135-31335135
46 XDH NM_000379.4(XDH):c.*699C>TSNV Uncertain significance 335750 rs542769393 2:31558125-31558125 2:31335259-31335259
47 XDH NM_000379.4(XDH):c.*404C>TSNV Uncertain significance 335753 rs759403236 2:31558420-31558420 2:31335554-31335554
48 XDH NM_000379.4(XDH):c.1243-7C>GSNV Uncertain significance 335789 rs200362582 2:31600110-31600110 2:31377244-31377244
49 XDH NM_000379.4(XDH):c.3665C>T (p.Thr1222Ile)SNV Uncertain significance 335759 rs148235835 2:31562464-31562464 2:31339598-31339598
50 XDH NM_000379.4(XDH):c.3148-4G>TSNV Uncertain significance 335764 rs545686434 2:31570520-31570520 2:31347654-31347654

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

73
# Symbol AA change Variation ID SNP ID
1 XDH p.Arg149Cys VAR_045900 rs72549369

Expression for Xanthinuria, Type I

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

Pathways for Xanthinuria, Type I

GO Terms for Xanthinuria, Type I

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 flavin adenine dinucleotide binding GO:0050660 9.4 XDH AOX1
5 iron-sulfur cluster binding GO:0051536 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

Sources for Xanthinuria, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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