MCID: XNT010
MIFTS: 43

Xanthinuria, Type I

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

Aliases & Classifications for Xanthinuria, Type I

MalaCards integrated aliases for Xanthinuria, Type I:

Name: Xanthinuria, Type I 57 13 55 40 73
Xanthine Dehydrogenase Deficiency 57 53 59 75
Xanthine Oxidase Deficiency 57 53 59 75
Xdh Deficiency 57 53 59 75
Deficiency of Xanthine Oxidase 29 6
Urolithiasis 44 73
Xan1 57 75
Xanthine Oxidoreductase Deficiency 59
Xanthine Dehydrogenase 13
Xanthic Urolithiasis 75
Xanthinuria Type 1 53
Type 1 Xanthinuria 53
Xanthinuria Type I 59
Xor Deficiency 59
Xo Deficiency 59
Xanthinuria 1 75

Characteristics:

Orphanet epidemiological data:

59
xanthinuria type i
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
xanthinuria, type i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 278300
Orphanet 59 ORPHA93601
UMLS via Orphanet 74 C0268118
ICD10 via Orphanet 34 E79.8
MedGen 42 C0268118
ICD10 33 N20-N23
UMLS 73 C0451641

Summaries for Xanthinuria, Type I

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)

MalaCards based summary : Xanthinuria, Type I, also known as xanthine dehydrogenase deficiency, is related to adenine phosphoribosyltransferase deficiency and molybdenum cofactor deficiency. An important gene associated with Xanthinuria, Type I is XDH (Xanthine Dehydrogenase), and among its related pathways/superpathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include kidney and skeletal muscle, and related phenotypes are hydronephrosis and xanthine nephrolithiasis

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93601Disease definitionType 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.

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 all 36)
# Related Disease Score Top Affiliating Genes
1 adenine phosphoribosyltransferase deficiency 34.1 APRT XDH
2 molybdenum cofactor deficiency 33.7 AOX1 SUOX XDH
3 xanthinuria 32.6 AOX1 APRT SUOX XDH
4 xanthinuria, type ii 32.6 AOX1 XDH
5 hereditary xanthinuria 31.9 AOX1 APRT SUOX XDH
6 nephrolithiasis 31.6 AGXT APRT CASR SPP1
7 nephrolithiasis, calcium oxalate 26.1 AGXT AMBP APRT CASR CKB CKM
8 urolithiasis, uric acid, autosomal dominant 11.9
9 purine-pyrimidine metabolic disorder 10.5 AOX1 APRT XDH
10 gout 10.4 APRT UMOD XDH
11 acute kidney tubular necrosis 10.3 NAGLU UMOD
12 lesch-nyhan syndrome 10.3 APRT XDH
13 type i 10.2
14 hypertensive nephropathy 10.2 AMBP NAGLU
15 mucopolysaccharidosis-plus syndrome 10.0 APRT NAGLU
16 prostate sarcoma 10.0 CKB CKM
17 prostate rhabdomyosarcoma 10.0 CKB CKM
18 dressler's syndrome 9.9 CKB CKM
19 vesicoureteral reflux 1 9.9 AMBP NAGLU UMOD
20 interstitial nephritis 9.9 APRT UMOD
21 bartter disease 9.8 CASR UMOD
22 calciphylaxis 9.8 CASR VDR
23 hypercalcemia, infantile, 1 9.8 CASR VDR
24 hypercalciuria, absorptive, 2 9.8 CASR VDR
25 phosphorus metabolism disease 9.7 CASR VDR
26 hypocalcemia, autosomal dominant 1 9.7 CASR VDR
27 sialolithiasis 9.7 CASR SPP1
28 secondary hyperparathyroidism of renal origin 9.6 CASR VDR
29 parathyroid gland disease 9.6 CASR VDR
30 mineral metabolism disease 9.5 AGXT CASR VDR
31 renal osteodystrophy 9.5 CASR VDR
32 uremia 9.4 CASR SPP1 VDR
33 idiopathic hypercalciuria 9.4 CASR NAGLU VDR
34 bone disease 9.3 CASR SPP1 VDR
35 chronic kidney failure 9.1 AGXT CASR UMOD VDR
36 kidney disease 8.4 AMBP CASR NAGLU UMOD VDR

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



Diseases related to Xanthinuria, Type I

Symptoms & Phenotypes for Xanthinuria, Type I

Symptoms via clinical synopsis from OMIM:

57
GU:
xanthine stones
hydronephrosis
pyelonephritis

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

Muscle:
myopathy


Clinical features from OMIM:

278300

Human phenotypes related to Xanthinuria, Type I:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hydronephrosis 32 HP:0000126
2 xanthine nephrolithiasis 32 HP:0000804
3 abnormality of metabolism/homeostasis 32 HP:0001939
4 myopathy 32 HP:0003198
5 reduced xanthine dehydrogenase activity 32 HP:0003534
6 xanthinuria 32 HP:0010934
7 pyelonephritis 32 HP:0012330

MGI Mouse Phenotypes related to Xanthinuria, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 AMBP APRT CASR CKB NAGLU SPP1
2 growth/size/body region MP:0005378 9.81 UMOD VDR XDH APRT CASR CKB
3 homeostasis/metabolism MP:0005376 9.61 AGXT APRT CASR CKM GGCX SPP1
4 renal/urinary system MP:0005367 9.23 AGXT APRT CASR NAGLU SPP1 UMOD

Drugs & Therapeutics for Xanthinuria, Type I

Search Clinical Trials , 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:

41
Kidney, Skeletal Muscle

Publications for Xanthinuria, Type I

Articles related to Xanthinuria, Type I:

# Title Authors Year
1
A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase. ( 28508967 )
2016
2
Xanthinuria type I with a novel mutation of xanthine dehydrogenase. ( 26110747 )
2015
3
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. ( 21963464 )
2012
4
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. ( 22981351 )
2012
5
Xanthinuria type I: a rare cause of urolithiasis. ( 17115198 )
2007

Variations for Xanthinuria, Type I

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

75
# Symbol AA change Variation ID SNP ID
1 XDH p.Arg149Cys VAR_045900 rs72549369

ClinVar genetic disease variations for Xanthinuria, Type I:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 XDH NM_000379.3(XDH): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs119460972 GRCh37 Chromosome 2, 31609391: 31609391
2 XDH NM_000379.3(XDH): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs119460972 GRCh38 Chromosome 2, 31386525: 31386525
3 XDH XDH, 1-BP DEL, 2567C deletion Pathogenic
4 XDH NM_000379.3(XDH): c.445C> T (p.Arg149Cys) single nucleotide variant Pathogenic rs72549369 GRCh37 Chromosome 2, 31620584: 31620584
5 XDH NM_000379.3(XDH): c.445C> T (p.Arg149Cys) single nucleotide variant Pathogenic rs72549369 GRCh38 Chromosome 2, 31397718: 31397718
6 XDH NM_000379.3(XDH): c.3276+12A> G single nucleotide variant Benign rs1366813 GRCh37 Chromosome 2, 31570376: 31570376
7 XDH NM_000379.3(XDH): c.3276+12A> G single nucleotide variant Benign rs1366813 GRCh38 Chromosome 2, 31347510: 31347510
8 XDH NM_000379.3(XDH): c.1686+1G> C single nucleotide variant Likely pathogenic rs148412639 GRCh37 Chromosome 2, 31596738: 31596738
9 XDH NM_000379.3(XDH): c.1686+1G> C single nucleotide variant Likely pathogenic rs148412639 GRCh38 Chromosome 2, 31373872: 31373872
10 XDH NM_000379.3(XDH): c.3440C> G (p.Ser1147Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 31342262: 31342262
11 XDH NM_000379.3(XDH): c.3440C> G (p.Ser1147Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 31565128: 31565128

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 decidualization GO:0046697 9.26 SPP1 VDR
2 creatine metabolic process GO:0006600 9.16 CKB CKM
3 lactation GO:0007595 9.13 APRT VDR XDH
4 xanthine catabolic process GO:0009115 8.62 AOX1 XDH

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.8 AGXT AMBP AOX1 CASR XDH
2 2 iron, 2 sulfur cluster binding GO:0051537 9.46 AOX1 XDH
3 amino acid binding GO:0016597 9.43 AGXT CASR
4 transferase activity, transferring phosphorus-containing groups GO:0016772 9.37 CKB CKM
5 oxidoreductase activity, acting on CH-OH group of donors GO:0016614 9.32 AOX1 XDH
6 creatine kinase activity GO:0004111 9.26 CKB CKM
7 xanthine dehydrogenase activity GO:0004854 9.16 AOX1 XDH
8 oxidoreductase activity, acting on the aldehyde or oxo group of donors GO:0016903 8.96 AOX1 XDH
9 molybdopterin cofactor binding GO:0043546 8.8 AOX1 SUOX XDH

Sources for Xanthinuria, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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