HP1
MCID: HYP794
MIFTS: 42

Hyperoxaluria, Primary, Type I (HP1)

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

Aliases & Classifications for Hyperoxaluria, Primary, Type I

MalaCards integrated aliases for Hyperoxaluria, Primary, Type I:

Name: Hyperoxaluria, Primary, Type I 57 55 40
Glycolic Aciduria 57 53 59 75
Alanine-Glyoxylate Aminotransferase Deficiency 57 53 75
Primary Hyperoxaluria, Type I 29 6 73
Primary Hyperoxaluria Type 1 24 53 59
Hepatic Agt Deficiency 57 53 75
Hp1 57 53 75
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency 53 75
Serine Pyruvate Aminotransferase Deficiency 53 75
Hyperoxaluria, Primary, Type 1 57 13
Oxalosis I 57 75
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 57
Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency 59
Serine:pyruvate Aminotransferase Deficiency 57
Hyperoxaluria Primary Type I 75
Primary Hyperoxaluria Type I 75
Hyperoxaluria Primary 1 75
Oxalosis 1 53
Ph1 75

Characteristics:

Orphanet epidemiological data:

59
primary hyperoxaluria type 1
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset, but usually in childhood
most patients die of renal failure in early adulthood
about 10% of patients have a severe early onset in the first months of life
incidence of 1 in 120,000 live births


HPO:

32
hyperoxaluria, primary, type i:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperoxaluria, Primary, Type I

NIH Rare Diseases : 53 Primary hyperoxaluria type 1 (PH1) is a rare disorder that mainly affects the kidneys. It results from buildup of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. In people with PH1, the accumulated oxalate is deposited in the kidneys and urinary tract. It combines with calcium, forming the main component of kidney and bladder stones (calcium oxalate). Signs and symptoms of PH1 vary in severity and may begin any time from infancy to early adulthood. Symptoms may include recurrent kidney stones; blood in the urine; and urinary tract infections. Left untreated, PH1 can result in end-stage renal disease, which is life-threatening. PH1 is due to mutations in a gene called AGXT. Inheritance is autosomal recessive. Early treatment is important for maintaining kidney function. Each person's treatment plan depends on his/her symptoms and the severity of the condition. Management may involve high fluid intake; vitamin B6 (pyridoxine); calcium-oxalate crystallization inhibitors (citrate, pyrophosphate, and magnesium); kidney stone therapies; and dialysis in some cases. Liver and/or kidney transplantation may be needed.

MalaCards based summary : Hyperoxaluria, Primary, Type I, also known as glycolic aciduria, is related to primary hyperoxaluria and hyperoxaluria, primary, type iii, and has symptoms including bone pain An important gene associated with Hyperoxaluria, Primary, Type I is AGXT (Alanine--Glyoxylate And Serine--Pyruvate Aminotransferase). The drugs Bone Density Conservation Agents and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related phenotypes are failure to thrive and abnormality of the dentition

OMIM : 57 Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. Affected individuals have decreased or absent AGXT activity and a failure to transaminate glyoxylate, which causes the accumulated glyoxylate to be oxidized to oxalate. This overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues, with pathologic sequelae (Takada et al., 1990; Danpure et al., 1989; Williams et al., 2009) (259900)

UniProtKB/Swiss-Prot : 75 Hyperoxaluria primary 1: An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease.

GeneReviews: NBK1283

Related Diseases for Hyperoxaluria, Primary, Type I

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



Diseases related to Hyperoxaluria, Primary, Type I

Symptoms & Phenotypes for Hyperoxaluria, Primary, Type I

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
optic atrophy
retinopathy
choroidal neovascularization
mild vision impairment

Neurologic Peripheral Nervous System:
peripheral neuropathy

Genitourinary Kidneys:
hematuria
nephrocalcinosis
renal failure
calcium oxalate urolithiasis

Metabolic Features:
metabolic acidosis

Laboratory Abnormalities:
hyperoxaluria
hyperoxalemia
hyperglycolic aciduria
diffuse deposition of calcium oxalate in various tissues
decreased agt activity

Skin Nails Hair Skin:
acrocyanosis
livedo reticularis
calcinosis cutis metastatica

Cardiovascular Heart:
heart block

Skeletal:
bone pain
pathologic fractures
osteosclerosis

Cardiovascular Vascular:
gangrene
raynaud phenomenon
intermittent claudication
peripheral vascular insufficiency
arterial occlusion
more
Head And Neck Teeth:
root resorption
pulp exposure
tooth mobility


Clinical features from OMIM:

259900

Human phenotypes related to Hyperoxaluria, Primary, Type I:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
2 abnormality of the dentition 59 32 very rare (1%) Very rare (<4-1%) HP:0000164
3 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
4 abnormality of the skeletal system 59 32 occasional (7.5%) Occasional (29-5%) HP:0000924
5 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
6 nephrocalcinosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000121
7 nephrolithiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000787
8 recurrent urinary tract infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0000010
9 stroke 59 32 very rare (1%) Very rare (<4-1%) HP:0001297
10 metabolic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001942
11 atherosclerosis 59 32 very rare (1%) Very rare (<4-1%) HP:0002621
12 dysuria 59 32 frequent (33%) Frequent (79-30%) HP:0100518
13 stage 5 chronic kidney disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0003774
14 enuresis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000805
15 abnormality of circulating enzyme level 59 32 hallmark (90%) Very frequent (99-80%) HP:0011021
16 decreased glomerular filtration rate 59 32 frequent (33%) Frequent (79-30%) HP:0012213
17 calcinosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003761
18 hyperoxaluria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003159
19 optic atrophy 32 HP:0000648
20 renal insufficiency 32 HP:0000083
21 retinopathy 32 HP:0000488
22 acrocyanosis 32 HP:0001063
23 atrioventricular block 32 HP:0001678
24 abnormality of metabolism/homeostasis 59 Very rare (<4-1%)
25 peripheral neuropathy 32 HP:0009830
26 pathologic fracture 32 HP:0002756
27 bone pain 32 HP:0002653
28 increased bone mineral density 32 HP:0011001
29 optic neuropathy 32 HP:0001138
30 gangrene 32 HP:0100758
31 cutis marmorata 32 HP:0000965
32 raynaud phenomenon 32 HP:0030880
33 intermittent claudication 32 HP:0004417
34 calcium oxalate nephrolithiasis 32 HP:0008672
35 arterial occlusion 32 HP:0025324
36 peripheral arterial stenosis 32 HP:0004950
37 choroidal neovascularization 32 HP:0011506
38 calcinosis cutis 32 HP:0025520
39 retinal crystals 32 HP:0030507

UMLS symptoms related to Hyperoxaluria, Primary, Type I:


bone pain

Drugs & Therapeutics for Hyperoxaluria, Primary, Type I

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

(show top 50) (show all 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bone Density Conservation Agents Phase 2, Phase 3
2 Calcium, Dietary Phase 2, Phase 3,Phase 1
3 Protective Agents Phase 3,Not Applicable
4
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
5
Zoledronic acid Approved Phase 2 118072-93-8 68740
6
Pravastatin Approved Phase 2 81093-37-0 54687
7
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
8
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 2 54-47-7 1051
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
10
Betaine Approved, Nutraceutical Phase 2 107-43-7 247
11
Lonafarnib Investigational Phase 2 193275-84-2 148195
12 Vitamin B 6 Phase 2
13 Vitamin B Complex Phase 2
14 Micronutrients Phase 2,Not Applicable
15 Vitamin B9 Phase 2
16 Vitamins Phase 2,Not Applicable
17 Pharmaceutical Solutions Phase 2,Phase 1
18 Trace Elements Phase 2,Not Applicable
19 Folate Phase 2
20 Lipid Regulating Agents Phase 2
21 Gastrointestinal Agents Phase 2,Not Applicable
22 Hypolipidemic Agents Phase 2
23 Antimetabolites Phase 2
24 leucine Phase 1, Phase 2
25 Histone Deacetylase Inhibitors Phase 2
26 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
27 Diphosphonates Phase 2
28 Anticholesteremic Agents Phase 2
29
Pyridoxal Experimental, Nutraceutical Phase 2 66-72-8 1050
30 Liver Extracts Phase 1
31
Iron Approved Not Applicable 7439-89-6 23925
32
Tocopherol Approved, Investigational Not Applicable 1406-66-2 14986
33
Tetracycline Approved, Vet_approved Not Applicable 60-54-8 5353990
34
Amoxicillin Approved, Vet_approved Not Applicable 26787-78-0 33613
35
Esomeprazole Approved, Investigational Not Applicable 161796-78-7, 119141-88-7 4594 9579578
36
Metronidazole Approved Not Applicable 443-48-1 4173
37
Clarithromycin Approved Not Applicable 81103-11-9 84029
38
Methionine Approved, Nutraceutical Not Applicable 63-68-3 6137
39
Vitamin E Approved, Nutraceutical, Vet_approved Not Applicable 59-02-9 14985
40 Tocotrienol Investigational Not Applicable 6829-55-6
41 Hematinics Not Applicable
42 ferric gluconate Not Applicable
43 carnitine Not Applicable
44 lysine Not Applicable
45 Antibiotics, Antitubercular
46 Anti-Bacterial Agents ,Not Applicable
47 Tocopherols Not Applicable
48 Tocotrienols Not Applicable
49 Antioxidants Not Applicable
50 Cytochrome P-450 Enzyme Inhibitors Not Applicable

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Study to Evaluate the Efficacy and Safety of OxabactTM on Reduction of Urinary Oxalate in Primary Hyperoxaluria Patients Completed NCT00638703 Phase 2, Phase 3 Placebo
2 Phase 2/3 Oxabact Study Completed NCT01037231 Phase 2, Phase 3 Placebo
3 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
4 A Study to Evaluate Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1 Recruiting NCT03681184 Phase 3 Lumasiran;Sterile Normal Saline (0.9% NaCl)
5 A Study to Evaluate the Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria Recruiting NCT03116685 Phase 3
6 Renal Protective Effect of ACEI and ARB in Primary Hyperoxaluria Withdrawn NCT00280215 Phase 3 ACEI / Angiotensin converting enzyme inhibitor;ARB /Angiotensin Receptor Blocker;Placebo
7 Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2 Vitamin B 6
8 Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary Hyperoxaluria Completed NCT02012985 Phase 1, Phase 2 Placebo capsules
9 Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria Completed NCT00283387 Phase 2 Betaine;Placebo
10 Hydroxyproline Influence on Oxalate Metabolism Completed NCT02038543 Phase 1, Phase 2 Hydroxyproline and Leucine
11 Vorinostat in Treating Patients With Metastatic or Unresectable Melanoma Completed NCT00121225 Phase 2 vorinostat
12 Study of ALLN-177 in Patients Aged 12 Years or Older With Enteric or Primary Hyperoxaluria and Hyperoxalemia Recruiting NCT03391804 Phase 2 ALLN-177
13 Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on Dialysis Active, not recruiting NCT02000219 Phase 2
14 Study of ALN-GO1 in Healthy Adult Subjects and Patients With Primary Hyperoxaluria Type 1 Active, not recruiting NCT02706886 Phase 1, Phase 2 Lumasiran;Sterile Normal Saline (0.9% NaCl)
15 An Extension Study of an Investigational Drug, ALN-GO1, in Patients With Primary Hyperoxaluria Type 1 Enrolling by invitation NCT03350451 Phase 2 ALN-GO1
16 Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria Enrolling by invitation NCT00916747 Phase 2 Lonafarnib, Zoledronic Acid, and Pravastatin
17 A Trial of Pyridoxamine to Lower Urine Oxalate in Subjects With Stone Disease or Hyperoxaluria Withdrawn NCT00490113 Phase 2 Pyridoxamine
18 Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria Recruiting NCT03392896 Phase 1 DCR-PHXC;Placebo
19 Enteric Oxalate Absorption Study in Unclassified Hyperoxaluria Active, not recruiting NCT00588120 Phase 1 C-13 labeled oxalate
20 A Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1) Terminated NCT02795325 Phase 1 DCR-PH1
21 The Type of Hepatoglobin in IUGR Unknown status NCT02127385
22 Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin Genotype Unknown status NCT02312414 Not Applicable L-Canitine
23 Haptoglobin and Diabetes Complications in Pregnancy Unknown status NCT01758016
24 Primary Hyperoxaluria Mutation Genotyping Completed NCT00589225
25 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009 Not Applicable
26 Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non Exacerbators Completed NCT01745419
27 Haptoglobin Phenotype, Vitamin E and High-density Lipoprotein (HDL) Function in Type 1 Diabetes Completed NCT01098994 Not Applicable
28 Five Days Quadruple and Clarithromycin Containing Triple Therapy as Treatment for Helicobacter Pylori Eradication Completed NCT01306786 Not Applicable Quadruple therapy;Triple therapy
29 Primary Hyperoxaluria Mutation Genotyping/Phenotyping Recruiting NCT02340689
30 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
31 Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients Recruiting NCT02794649
32 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
33 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
34 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
35 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835
36 Proteomics of Primary Hyperoxaluria Type 1 Active, not recruiting NCT03067142
37 Associations Between Diabetes Care and Haptoglobin Genotype On outComes Active, not recruiting NCT00872456
38 International Registry for Primary Hyperoxaluria Withdrawn NCT00875823

Search NIH Clinical Center for Hyperoxaluria, Primary, Type I

Genetic Tests for Hyperoxaluria, Primary, Type I

Genetic tests related to Hyperoxaluria, Primary, Type I:

# Genetic test Affiliating Genes
1 Primary Hyperoxaluria, Type I 29 AGXT

Anatomical Context for Hyperoxaluria, Primary, Type I

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

41
Kidney, Liver, Bone, Heart, Eye, Myeloid, Bone Marrow

Publications for Hyperoxaluria, Primary, Type I

Articles related to Hyperoxaluria, Primary, Type I:

# Title Authors Year
1
Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria. ( 24996905 )
2014
2
Pyridoxine-responsive nephrocalcinosis and glycolic aciduria in two siblings without hyperoxaluria and with normal alanine: glyoxalate aminotransferase activity. ( 10682315 )
2000
3
Persistent glycolic aciduria in a healthy child with normal alanine-glyoxylate aminotransferase activity. ( 8982955 )
1996

Variations for Hyperoxaluria, Primary, Type I

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

75 (show all 40)
# Symbol AA change Variation ID SNP ID
1 AGXT p.Gly41Arg VAR_000588 rs121908523
2 AGXT p.Phe152Ile VAR_000589 rs121908524
3 AGXT p.Gly170Arg VAR_000590 rs121908529
4 AGXT p.Ser187Phe VAR_000591 rs180177238
5 AGXT p.Ser205Pro VAR_000592 rs121908520
6 AGXT p.Gly82Glu VAR_008878 rs121908522
7 AGXT p.Arg233Cys VAR_008879 rs121908526
8 AGXT p.Arg233His VAR_008880 rs121908527
9 AGXT p.Ile244Thr VAR_008881 rs121908525
10 AGXT p.Gly41Val VAR_010969 rs180177168
11 AGXT p.Gly116Arg VAR_010971 rs180177207
12 AGXT p.Gly156Arg VAR_010972 rs121908530
13 AGXT p.Asp183Asn VAR_010973 rs180177236
14 AGXT p.Gly82Arg VAR_060548 rs180177185
15 AGXT p.Trp108Arg VAR_060549 rs180177197
16 AGXT p.Ala112Asp VAR_060550 rs796052061
17 AGXT p.Leu153Val VAR_060552 rs180177223
18 AGXT p.Ser158Leu VAR_060553 rs180177225
19 AGXT p.Gly161Arg VAR_060554 rs180177227
20 AGXT p.Cys173Tyr VAR_060555 rs180177231
21 AGXT p.Gly190Arg VAR_060556 rs180177239
22 AGXT p.Met195Arg VAR_060557 rs180177244
23 AGXT p.Asp201Glu VAR_060558 rs180177246
24 AGXT p.Ser218Leu VAR_060559 rs180177253
25 AGXT p.Arg233Leu VAR_060560 rs121908527
26 AGXT p.Asp243His VAR_060561 rs180177258
27 AGXT p.Cys253Arg VAR_060562 rs180177264
28 AGXT p.Ile279Met VAR_060563 rs180177277
29 AGXT p.Ser287Thr VAR_060566 rs180177289
30 AGXT p.Arg289Cys VAR_060567 rs180177290
31 AGXT p.Leu298Pro VAR_060569 rs180177293
32 AGXT p.Val336Asp VAR_060571 rs180177155
33 AGXT p.Gly350Asp VAR_060572 rs180177156
34 AGXT p.Arg36Cys VAR_074582 rs180177157
35 AGXT p.Gly41Glu VAR_074583 rs180177168
36 AGXT p.Gly47Arg VAR_074584 rs180177173
37 AGXT p.Leu150Pro VAR_074585 rs180177222
38 AGXT p.Gly161Cys VAR_074586 rs180177227
39 AGXT p.Gly161Ser VAR_074587 rs180177227
40 AGXT p.Leu166Pro VAR_074588 rs180177230

ClinVar genetic disease variations for Hyperoxaluria, Primary, Type I:

6 (show top 50) (show all 511)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGXT NM_000030.2(AGXT): c.613T> C (p.Ser205Pro) single nucleotide variant Pathogenic rs121908520 GRCh37 Chromosome 2, 241813412: 241813412
2 AGXT NM_000030.2(AGXT): c.613T> C (p.Ser205Pro) single nucleotide variant Pathogenic rs121908520 GRCh38 Chromosome 2, 240873995: 240873995
3 AGXT NM_000030.2(AGXT): c.32C> T (p.Pro11Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34116584 GRCh37 Chromosome 2, 241808314: 241808314
4 AGXT NM_000030.2(AGXT): c.32C> T (p.Pro11Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34116584 GRCh38 Chromosome 2, 240868897: 240868897
5 AGXT NM_000030.2(AGXT): c.198C> G (p.Tyr66Ter) single nucleotide variant Pathogenic rs121908521 GRCh37 Chromosome 2, 241808619: 241808619
6 AGXT NM_000030.2(AGXT): c.198C> G (p.Tyr66Ter) single nucleotide variant Pathogenic rs121908521 GRCh38 Chromosome 2, 240869202: 240869202
7 AGXT NM_000030.2(AGXT): c.245G> A (p.Gly82Glu) single nucleotide variant Likely pathogenic rs121908522 GRCh37 Chromosome 2, 241808666: 241808666
8 AGXT NM_000030.2(AGXT): c.245G> A (p.Gly82Glu) single nucleotide variant Likely pathogenic rs121908522 GRCh38 Chromosome 2, 240869249: 240869249
9 AGXT NM_000030.2(AGXT): c.121G> A (p.Gly41Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908523 GRCh37 Chromosome 2, 241808403: 241808403
10 AGXT NM_000030.2(AGXT): c.121G> A (p.Gly41Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908523 GRCh38 Chromosome 2, 240868986: 240868986
11 AGXT NM_000030.2(AGXT): c.454T> A (p.Phe152Ile) single nucleotide variant Pathogenic rs121908524 GRCh37 Chromosome 2, 241810796: 241810796
12 AGXT NM_000030.2(AGXT): c.454T> A (p.Phe152Ile) single nucleotide variant Pathogenic rs121908524 GRCh38 Chromosome 2, 240871379: 240871379
13 AGXT NM_000030.2(AGXT): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh37 Chromosome 2, 241814576: 241814576
14 AGXT NM_000030.2(AGXT): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh38 Chromosome 2, 240875159: 240875159
15 AGXT NM_000030.2(AGXT): c.697C> T (p.Arg233Cys) single nucleotide variant Likely pathogenic rs121908526 GRCh37 Chromosome 2, 241814542: 241814542
16 AGXT NM_000030.2(AGXT): c.697C> T (p.Arg233Cys) single nucleotide variant Likely pathogenic rs121908526 GRCh38 Chromosome 2, 240875125: 240875125
17 AGXT NM_000030.2(AGXT): c.698G> A (p.Arg233His) single nucleotide variant Likely pathogenic rs121908527 GRCh37 Chromosome 2, 241814543: 241814543
18 AGXT NM_000030.2(AGXT): c.698G> A (p.Arg233His) single nucleotide variant Likely pathogenic rs121908527 GRCh38 Chromosome 2, 240875126: 240875126
19 AGXT NM_000030.2(AGXT): c.738G> A (p.Trp246Ter) single nucleotide variant Pathogenic rs121908528 GRCh37 Chromosome 2, 241814583: 241814583
20 AGXT NM_000030.2(AGXT): c.738G> A (p.Trp246Ter) single nucleotide variant Pathogenic rs121908528 GRCh38 Chromosome 2, 240875166: 240875166
21 AGXT NM_000030.2(AGXT): c.466G> A (p.Gly156Arg) single nucleotide variant Pathogenic rs121908530 GRCh37 Chromosome 2, 241810808: 241810808
22 AGXT NM_000030.2(AGXT): c.466G> A (p.Gly156Arg) single nucleotide variant Pathogenic rs121908530 GRCh38 Chromosome 2, 240871391: 240871391
23 AGXT NM_000030.2(AGXT): c.508G> A (p.Gly170Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908529 GRCh37 Chromosome 2, 241810850: 241810850
24 AGXT NM_000030.2(AGXT): c.508G> A (p.Gly170Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908529 GRCh38 Chromosome 2, 240871433: 240871433
25 AGXT NM_000030.2(AGXT): c.1020A> G (p.Ile340Met) single nucleotide variant Conflicting interpretations of pathogenicity rs4426527 GRCh37 Chromosome 2, 241817516: 241817516
26 AGXT NM_000030.2(AGXT): c.1020A> G (p.Ile340Met) single nucleotide variant Conflicting interpretations of pathogenicity rs4426527 GRCh38 Chromosome 2, 240878099: 240878099
27 AGXT AGXT, 1-BP INS, 33C insertion Pathogenic
28 AGXT NM_000030.2(AGXT): c.557C> T (p.Ala186Val) single nucleotide variant Conflicting interpretations of pathogenicity rs117195882 GRCh37 Chromosome 2, 241812428: 241812428
29 AGXT NM_000030.2(AGXT): c.557C> T (p.Ala186Val) single nucleotide variant Conflicting interpretations of pathogenicity rs117195882 GRCh38 Chromosome 2, 240873011: 240873011
30 AGXT NM_000030.2(AGXT): c.590G> A (p.Arg197Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34664134 GRCh37 Chromosome 2, 241812461: 241812461
31 AGXT NM_000030.2(AGXT): c.590G> A (p.Arg197Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34664134 GRCh38 Chromosome 2, 240873044: 240873044
32 AGXT NM_000030.2(AGXT): c.33dupC (p.Lys12Glnfs) duplication Pathogenic rs398122322 GRCh37 Chromosome 2, 241808315: 241808315
33 AGXT NM_000030.2(AGXT): c.33dupC (p.Lys12Glnfs) duplication Pathogenic rs398122322 GRCh38 Chromosome 2, 240868898: 240868898
34 AGXT NM_000030.2(AGXT): c.560C> T (p.Ser187Phe) single nucleotide variant Likely pathogenic rs180177238 GRCh37 Chromosome 2, 241812431: 241812431
35 AGXT NM_000030.2(AGXT): c.560C> T (p.Ser187Phe) single nucleotide variant Likely pathogenic rs180177238 GRCh38 Chromosome 2, 240873014: 240873014
36 AGXT NM_000030.2(AGXT): c.33delC (p.Lys12Argfs) deletion Likely pathogenic rs180177205 GRCh38 Chromosome 2, 240868898: 240868898
37 AGXT NM_000030.2(AGXT): c.33delC (p.Lys12Argfs) deletion Likely pathogenic rs180177205 GRCh37 Chromosome 2, 241808315: 241808315
38 AGXT NM_000030.2(AGXT): c.106C> T (p.Arg36Cys) single nucleotide variant Likely pathogenic rs180177157 GRCh37 Chromosome 2, 241808388: 241808388
39 AGXT NM_000030.2(AGXT): c.106C> T (p.Arg36Cys) single nucleotide variant Likely pathogenic rs180177157 GRCh38 Chromosome 2, 240868971: 240868971
40 AGXT NM_000030.2(AGXT): c.122G> T (p.Gly41Val) single nucleotide variant Likely pathogenic rs180177168 GRCh38 Chromosome 2, 240868987: 240868987
41 AGXT NM_000030.2(AGXT): c.122G> T (p.Gly41Val) single nucleotide variant Likely pathogenic rs180177168 GRCh37 Chromosome 2, 241808404: 241808404
42 AGXT NM_000030.2(AGXT): c.302T> C (p.Leu101Pro) single nucleotide variant Likely pathogenic rs180177195 GRCh37 Chromosome 2, 241808723: 241808723
43 AGXT NM_000030.2(AGXT): c.302T> C (p.Leu101Pro) single nucleotide variant Likely pathogenic rs180177195 GRCh38 Chromosome 2, 240869306: 240869306
44 AGXT NM_000030.2(AGXT): c.322T> C (p.Trp108Arg) single nucleotide variant Likely pathogenic rs180177197 GRCh37 Chromosome 2, 241808743: 241808743
45 AGXT NM_000030.2(AGXT): c.322T> C (p.Trp108Arg) single nucleotide variant Likely pathogenic rs180177197 GRCh38 Chromosome 2, 240869326: 240869326
46 AGXT NM_000030.2(AGXT): c.346G> A (p.Gly116Arg) single nucleotide variant Likely pathogenic rs180177207 GRCh38 Chromosome 2, 240869350: 240869350
47 AGXT NM_000030.2(AGXT): c.346G> A (p.Gly116Arg) single nucleotide variant Likely pathogenic rs180177207 GRCh37 Chromosome 2, 241808767: 241808767
48 AGXT NM_000030.2(AGXT): c.481G> T (p.Gly161Cys) single nucleotide variant Likely pathogenic rs180177227 GRCh37 Chromosome 2, 241810823: 241810823
49 AGXT NM_000030.2(AGXT): c.481G> T (p.Gly161Cys) single nucleotide variant Likely pathogenic rs180177227 GRCh38 Chromosome 2, 240871406: 240871406
50 AGXT NM_000030.2(AGXT): c.568G> A (p.Gly190Arg) single nucleotide variant Likely pathogenic rs180177239 GRCh37 Chromosome 2, 241812439: 241812439

Expression for Hyperoxaluria, Primary, Type I

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

Pathways for Hyperoxaluria, Primary, Type I

GO Terms for Hyperoxaluria, Primary, Type I

Sources for Hyperoxaluria, Primary, Type I

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