MCID: HYP617
MIFTS: 33

Hyperoxaluria, Primary, Type 1 malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases, Eye diseases categories

Aliases & Classifications for Hyperoxaluria, Primary, Type 1

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Hyperoxaluria, Primary, Type 1, Aliases & Descriptions:

Name: Hyperoxaluria, Primary, Type 1 45 10
Primary Hyperoxaluria Type 1 19 41 20 47 22
Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency 41 47
Hyperoxaluria, Primary, Type I 45 43
Glycolic Aciduria 41 47
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency 41
 
Alanine-Glyoxylate Aminotransferase Deficiency 41
Serine Pyruvate Aminotransferase Deficiency 41
Primary Hyperoxaluria, Type I 60
Hepatic Agt Deficiency 41
Oxalosis 1 41
Hp1 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
primary hyperoxaluria type 1:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (France); Age of onset: All ages; Age of death: any age


External Ids:

OMIM45 259900
Orphanet47 93598
MESH via Orphanet34 C536414
ICD10 via Orphanet26 E74.8
UMLS via Orphanet61 C0268164

Summaries for Hyperoxaluria, Primary, Type 1

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OMIM:45 Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in... (259900) more...

MalaCards based summary: Hyperoxaluria, Primary, Type 1, also known as primary hyperoxaluria type 1, is related to primary hyperoxaluria and hepatitis, and has symptoms including autosomal recessive inheritance, renal insufficiency and nephrocalcinosis. An important gene associated with Hyperoxaluria, Primary, Type 1 is AGXT (alanine-glyoxylate aminotransferase). Affiliated tissues include kidney and bone.

GeneReviews summary for ph1

Related Diseases for Hyperoxaluria, Primary, Type 1

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Diseases in the Primary Hyperoxaluria family:

Hyperoxaluria, Primary, Type Ii Hyperoxaluria, Primary, Type Iii
hyperoxaluria, primary, type 1

Diseases related to Hyperoxaluria, Primary, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1primary hyperoxaluria11.4
2hepatitis10.6
3nephrocalcinosis10.5
4peritonitis10.4
5brachydactyly-mental retardation syndrome10.3
6end stage renal failure10.3
7polycystic kidney disease10.3
8brachydactyly10.3
9autosomal recessive disease10.3
10hypothyroidism10.3
11kidney disease10.3
12retinitis10.3
13mental retardation10.3
14hiv-110.1
15leukemia10.1

Graphical network of diseases related to Hyperoxaluria, Primary, Type 1:



Diseases related to hyperoxaluria, primary, type 1

Symptoms for Hyperoxaluria, Primary, Type 1

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Symptoms by clinical synopsis from OMIM:

259900

Clinical features from OMIM:

259900

HPO human phenotypes related to Hyperoxaluria, Primary, Type 1:

(show all 20)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 renal insufficiency HP:0000083
3 nephrocalcinosis HP:0000121
4 retinopathy HP:0000488
5 optic atrophy HP:0000648
6 hematuria HP:0000790
7 cutis marmorata HP:0000965
8 acrocyanosis HP:0001063
9 optic neuropathy HP:0001138
10 atrioventricular block HP:0001678
11 metabolic acidosis HP:0001942
12 bone pain HP:0002653
13 pathologic fracture HP:0002756
14 hyperoxaluria HP:0003159
15 intermittent claudication HP:0004417
16 peripheral vascular insufficiency HP:0005309
17 calcium oxalate nephrolithiasis HP:0008672
18 peripheral neuropathy HP:0009830
19 increased bone mineral density HP:0011001
20 gangrene HP:0100758

Drugs & Therapeutics for Hyperoxaluria, Primary, Type 1

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Drug clinical trials:

Search ClinicalTrials for Hyperoxaluria, Primary, Type 1

Search NIH Clinical Center for Hyperoxaluria, Primary, Type 1

Genetic Tests for Hyperoxaluria, Primary, Type 1

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Genetic tests related to Hyperoxaluria, Primary, Type 1:

id Genetic test Affiliating Genes
1 Hyperoxaluria, Primary, Type 120 AGXT
2 Primary Hyperoxaluria, Type I22

Anatomical Context for Hyperoxaluria, Primary, Type 1

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MalaCards organs/tissues related to Hyperoxaluria, Primary, Type 1:

31
Kidney, Bone

Animal Models for Hyperoxaluria, Primary, Type 1 or affiliated genes

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Publications for Hyperoxaluria, Primary, Type 1

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Variations for Hyperoxaluria, Primary, Type 1

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UniProtKB/Swiss-Prot genetic disease variations for Hyperoxaluria, Primary, Type 1:

62 (show all 34)
id Symbol AA change Variation ID SNP ID
1AGXTp.Gly41ArgVAR_000588
2AGXTp.Phe152IleVAR_000589
3AGXTp.Gly170ArgVAR_000590
4AGXTp.Ser187PheVAR_000591
5AGXTp.Ser205ProVAR_000592
6AGXTp.Gly82GluVAR_008878
7AGXTp.Arg233CysVAR_008879
8AGXTp.Arg233HisVAR_008880
9AGXTp.Ile244ThrVAR_008881
10AGXTp.Gly41ValVAR_010969
11AGXTp.Gly116ArgVAR_010971
12AGXTp.Gly156ArgVAR_010972
13AGXTp.Asp183AsnVAR_010973
14AGXTp.Thr9AsnVAR_060547
15AGXTp.Gly82ArgVAR_060548
16AGXTp.Trp108ArgVAR_060549
17AGXTp.Ala112AspVAR_060550
18AGXTp.Leu153ValVAR_060552
19AGXTp.Ser158LeuVAR_060553
20AGXTp.Gly161ArgVAR_060554
21AGXTp.Cys173TyrVAR_060555
22AGXTp.Gly190ArgVAR_060556
23AGXTp.Met195ArgVAR_060557
24AGXTp.Asp201GluVAR_060558
25AGXTp.Ser218LeuVAR_060559
26AGXTp.Arg233LeuVAR_060560
27AGXTp.Asp243HisVAR_060561
28AGXTp.Cys253ArgVAR_060562
29AGXTp.Ile279MetVAR_060563
30AGXTp.Ser287ThrVAR_060566
31AGXTp.Arg289CysVAR_060567
32AGXTp.Leu298ProVAR_060569
33AGXTp.Val336AspVAR_060571
34AGXTp.Gly350AspVAR_060572

Clinvar genetic disease variations for Hyperoxaluria, Primary, Type 1:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1AGXTNM_000030.2(AGXT): c.33dupC (p.Lys12Glnfs)duplicationPathogenicrs398122322GRCh37Chr 2, 241808315: 241808315
2AGXTNM_000030.2(AGXT): c.560C> T (p.Ser187Phe)single nucleotide variantPathogenicrs180177238GRCh37Chr 2, 241812431: 241812431
3AGXTNM_000030.2(AGXT): c.1020A> G (p.Ile340Met)single nucleotide variantPathogenicrs4426527GRCh37Chr 2, 241817516: 241817516
4AGXTAGXT, 1-BP INS, 33CinsertionPathogenic
5AGXTNM_000030.2(AGXT): c.508G> A (p.Gly170Arg)single nucleotide variantPathogenicrs121908529GRCh37Chr 2, 241810850: 241810850
6AGXTNM_000030.2(AGXT): c.613T> C (p.Ser205Pro)single nucleotide variantPathogenicrs121908520GRCh37Chr 2, 241813412: 241813412
7AGXTNM_000030.2(AGXT): c.32C> T (p.Pro11Leu)single nucleotide variantPathogenicrs34116584GRCh37Chr 2, 241808314: 241808314
8AGXTNM_000030.2(AGXT): c.198C> G (p.Tyr66Ter)single nucleotide variantPathogenicrs121908521GRCh37Chr 2, 241808619: 241808619
9AGXTNM_000030.2(AGXT): c.245G> A (p.Gly82Glu)single nucleotide variantPathogenicrs121908522GRCh37Chr 2, 241808666: 241808666
10AGXTNM_000030.2(AGXT): c.121G> A (p.Gly41Arg)single nucleotide variantPathogenicrs121908523GRCh37Chr 2, 241808403: 241808403
11AGXTNM_000030.2(AGXT): c.454T> A (p.Phe152Ile)single nucleotide variantPathogenicrs121908524GRCh37Chr 2, 241810796: 241810796
12AGXTNM_000030.2(AGXT): c.731T> C (p.Ile244Thr)single nucleotide variantPathogenicrs121908525GRCh37Chr 2, 241814576: 241814576
13AGXTNM_000030.2(AGXT): c.697C> T (p.Arg233Cys)single nucleotide variantPathogenicrs121908526GRCh37Chr 2, 241814542: 241814542
14AGXTNM_000030.2(AGXT): c.698G> A (p.Arg233His)single nucleotide variantPathogenicrs121908527GRCh37Chr 2, 241814543: 241814543
15AGXTNM_000030.2(AGXT): c.738G> A (p.Trp246Ter)single nucleotide variantPathogenicrs121908528GRCh37Chr 2, 241814583: 241814583
16AGXTNM_000030.2(AGXT): c.466G> A (p.Gly156Arg)single nucleotide variantPathogenicrs121908530GRCh37Chr 2, 241810808: 241810808

Expression for genes affiliated with Hyperoxaluria, Primary, Type 1

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Search GEO for disease gene expression data for Hyperoxaluria, Primary, Type 1.

Pathways for genes affiliated with Hyperoxaluria, Primary, Type 1

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Compounds for genes affiliated with Hyperoxaluria, Primary, Type 1

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GO Terms for genes affiliated with Hyperoxaluria, Primary, Type 1

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Products for genes affiliated with Hyperoxaluria, Primary, Type 1

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Sources for Hyperoxaluria, Primary, Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet