MCID: HYP794
MIFTS: 41

Hyperoxaluria, Primary, Type I

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

Aliases & Classifications for Hyperoxaluria, Primary, Type I

MalaCards integrated aliases for Hyperoxaluria, Primary, Type I:

Name: Hyperoxaluria, Primary, Type I 53 51
Glycolic Aciduria 53 49 55 71
Alanine-Glyoxylate Aminotransferase Deficiency 53 49 71
Primary Hyperoxaluria Type 1 23 49 55
Hepatic Agt Deficiency 53 49 71
Hp1 53 49 71
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency 49 71
Serine Pyruvate Aminotransferase Deficiency 49 71
Hyperoxaluria, Primary, Type 1 53 13
Primary Hyperoxaluria, Type I 28 69
Oxalosis I 53 71
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 53
Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency 55
Serine:pyruvate Aminotransferase Deficiency 53
Hyperoxaluria Primary Type I 71
Primary Hyperoxaluria Type I 71
Hyperoxaluria Primary 1 71
Oxalosis 1 49
Ph1 71

Characteristics:

Orphanet epidemiological data:

55
primary hyperoxaluria type 1
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: All ages; Age of death: any age;

OMIM:

53
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:

31
hyperoxaluria, primary, type i:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperoxaluria, Primary, Type I

NIH Rare Diseases : 49 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. Last updated: 8/12/2016

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 dysuria, failure to thrive and abnormality of the dentition. An important gene associated with Hyperoxaluria, Primary, Type I is AGXT (Alanine-Glyoxylate 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.

OMIM : 53 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 : 71 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

Diseases in the Primary Hyperoxaluria family:

Hyperoxaluria, Primary, Type I Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Primary, Type Iii

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

# Related Disease Score Top Affiliating Genes
1 primary hyperoxaluria 11.4
2 hyperoxaluria, primary, type iii 11.1
3 cataract 32, multiple types 9.9
4 human immunodeficiency virus type 1 9.9
5 leukemia 9.9
6 immunodeficiency-centromeric instability-facial anomalies syndrome 9.9
7 nephrocalcinosis 9.8

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:

53
Skeletal:
bone pain
pathologic fractures
osteosclerosis

Skin Nails Hair Skin:
acrocyanosis
livedo reticularis
calcinosis cutis metastatica

Cardiovascular Heart:
heart block

Metabolic Features:
metabolic acidosis

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

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

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:

55 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysuria 55 31 frequent (33%) Frequent (79-30%) HP:0100518
2 failure to thrive 55 31 frequent (33%) Frequent (79-30%) HP:0001508
3 abnormality of the dentition 55 31 very rare (1%) Very rare (<4-1%) HP:0000164
4 anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001903
5 abnormality of the skeletal system 55 31 occasional (7.5%) Occasional (29-5%) HP:0000924
6 hematuria 55 31 frequent (33%) Frequent (79-30%) HP:0000790
7 nephrocalcinosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000121
8 nephrolithiasis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000787
9 recurrent urinary tract infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0000010
10 stroke 55 31 very rare (1%) Very rare (<4-1%) HP:0001297
11 metabolic acidosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001942
12 atherosclerosis 55 31 very rare (1%) Very rare (<4-1%) HP:0002621
13 stage 5 chronic kidney disease 55 31 occasional (7.5%) Occasional (29-5%) HP:0003774
14 abnormality of circulating enzyme level 55 31 hallmark (90%) Very frequent (99-80%) HP:0011021
15 enuresis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000805
16 decreased glomerular filtration rate 55 31 frequent (33%) Frequent (79-30%) HP:0012213
17 calcinosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0003761
18 hyperoxaluria 55 31 hallmark (90%) Very frequent (99-80%) HP:0003159
19 bone pain 31 HP:0002653
20 optic atrophy 31 HP:0000648
21 renal insufficiency 31 HP:0000083
22 retinopathy 31 HP:0000488
23 acrocyanosis 31 HP:0001063
24 atrioventricular block 31 HP:0001678
25 abnormality of metabolism/homeostasis 55 Very rare (<4-1%)
26 peripheral neuropathy 31 HP:0009830
27 pathologic fracture 31 HP:0002756
28 increased bone mineral density 31 HP:0011001
29 gangrene 31 HP:0100758
30 cutis marmorata 31 HP:0000965
31 raynaud phenomenon 31 HP:0030880
32 intermittent claudication 31 HP:0004417
33 calcium oxalate nephrolithiasis 31 HP:0008672
34 arterial occlusion 31 HP:0025324
35 peripheral arterial stenosis 31 HP:0004950
36 optic neuropathy 31 HP:0001138
37 retinal crystals 31 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 59)
# 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
4
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
5
Pravastatin Approved Phase 2 81093-37-0 54687
6
Zoledronic acid Approved Phase 2 118072-93-8 68740
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
8
Pyridoxal Approved, Nutraceutical Phase 2 66-72-8 1050
9
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 2 54-47-7 1051
10
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
11
Betaine Approved, Nutraceutical Phase 2 107-43-7 247
12 Micronutrients Phase 2
13 Pharmaceutical Solutions Phase 2,Phase 1
14 Trace Elements Phase 2
15 Vitamin B 6 Phase 2
16 Vitamin B Complex Phase 2
17 Vitamins Phase 2
18 Antimetabolites Phase 2
19 Gastrointestinal Agents Phase 2
20 Hypolipidemic Agents Phase 2
21 Lipid Regulating Agents Phase 2
22 Histone Deacetylase Inhibitors Phase 2
23 Anticholesteremic Agents Phase 2
24 Diphosphonates Phase 2
25 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
26 Folate Nutraceutical Phase 2
27 Vitamin B9 Nutraceutical Phase 2
28 leucine Nutraceutical Phase 1, Phase 2
29 Liver Extracts Phase 1
30
Iron Approved 7439-89-6 23925
31
Amoxicillin Approved, Vet_approved 26787-78-0 33613 2171
32
Clarithromycin Approved 81103-11-9 84029
33
Esomeprazole Approved, Investigational 161796-78-7, 119141-88-7 9579578 4594
34
Metronidazole Approved 443-48-1 4173
35
Tetracycline Approved, Vet_approved 60-54-8 5353990
36 Tocopherol Approved, Investigational, Nutraceutical
37
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
38 ferric gluconate
39 Hematinics
40 Anti-Bacterial Agents
41 Antibiotics, Antitubercular
42 Antioxidants
43 Tocopherols
44 Tocotrienols
45 Antacids
46 Anti-Infective Agents
47 Antiparasitic Agents
48 Antiprotozoal Agents
49 Anti-Ulcer Agents
50
Bismuth 7440-69-9 105143 16682734

Interventional clinical trials:

(show all 37)

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

Anatomical Context for Hyperoxaluria, Primary, Type I

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

38
Kidney, Liver, Bone, Heart, Testes

Publications for Hyperoxaluria, Primary, Type I

Articles related to Hyperoxaluria, Primary, Type I:

# Title Authors Year
1
Pyridoxine-responsive nephrocalcinosis and glycolic aciduria in two siblings without hyperoxaluria and with normal alanine: glyoxalate aminotransferase activity. ( 10682315 )
2000
2
The effect of pyridoxine on oxalate dynamics in three cases of primary hyperoxaluria (with glycollic aciduria). ( 4064559 )
1985

Variations for Hyperoxaluria, Primary, Type I

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

71 (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 179)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGXT NM_000030.2(AGXT): c.508G> A (p.Gly170Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908529 GRCh37 Chromosome 2, 241810850: 241810850
2 AGXT AGXT, 1-BP INS, 33C insertion Pathogenic
3 AGXT NM_000030.2(AGXT): c.33dupC (p.Lys12Glnfs) duplication Pathogenic rs398122322 GRCh37 Chromosome 2, 241808315: 241808315
4 AGXT NM_000030.2(AGXT): c.560C> T (p.Ser187Phe) single nucleotide variant Pathogenic rs180177238 GRCh37 Chromosome 2, 241812431: 241812431
5 AGXT NM_000030.2(AGXT): c.33delC (p.Lys12Argfs) deletion Pathogenic/Likely pathogenic rs180177205 GRCh37 Chromosome 2, 241808315: 241808315
6 AGXT NM_000030.2(AGXT): c.106C> T (p.Arg36Cys) single nucleotide variant Pathogenic/Likely pathogenic rs180177157 GRCh37 Chromosome 2, 241808388: 241808388
7 AGXT NM_000030.2(AGXT): c.122G> T (p.Gly41Val) single nucleotide variant Pathogenic/Likely pathogenic rs180177168 GRCh37 Chromosome 2, 241808404: 241808404
8 AGXT NM_000030.2(AGXT): c.302T> C (p.Leu101Pro) single nucleotide variant Pathogenic/Likely pathogenic rs180177195 GRCh37 Chromosome 2, 241808723: 241808723
9 AGXT NM_000030.2(AGXT): c.322T> C (p.Trp108Arg) single nucleotide variant Pathogenic/Likely pathogenic rs180177197 GRCh37 Chromosome 2, 241808743: 241808743
10 AGXT NM_000030.2(AGXT): c.346G> A (p.Gly116Arg) single nucleotide variant Pathogenic/Likely pathogenic rs180177207 GRCh37 Chromosome 2, 241808767: 241808767
11 AGXT NM_000030.2(AGXT): c.481G> T (p.Gly161Cys) single nucleotide variant Pathogenic/Likely pathogenic rs180177227 GRCh37 Chromosome 2, 241810823: 241810823
12 AGXT NM_000030.2(AGXT): c.568G> A (p.Gly190Arg) single nucleotide variant Pathogenic/Likely pathogenic rs180177239 GRCh37 Chromosome 2, 241812439: 241812439
13 AGXT NM_000030.2(AGXT): c.653C> T (p.Ser218Leu) single nucleotide variant Pathogenic/Likely pathogenic rs180177253 GRCh37 Chromosome 2, 241813452: 241813452
14 AGXT NM_000030.2(AGXT): c.737G> A (p.Trp246Ter) single nucleotide variant Pathogenic/Likely pathogenic rs180177259 GRCh37 Chromosome 2, 241814582: 241814582
15 AGXT NM_000030.2(AGXT): c.752G> A (p.Trp251Ter) single nucleotide variant Likely pathogenic rs786204545 GRCh37 Chromosome 2, 241814597: 241814597
16 AGXT NM_000030.2(AGXT): c.777-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs180177267 GRCh37 Chromosome 2, 241815351: 241815351
17 AGXT NM_000030.2(AGXT): c.976delG (p.Val326Tyrfs) deletion Pathogenic/Likely pathogenic rs180177301 GRCh37 Chromosome 2, 241817472: 241817472
18 AGXT NM_000030.2(AGXT): c.1049G> A (p.Gly350Asp) single nucleotide variant Pathogenic/Likely pathogenic rs180177156 GRCh37 Chromosome 2, 241817545: 241817545
19 AGXT NM_000030.2(AGXT): c.613T> C (p.Ser205Pro) single nucleotide variant Pathogenic rs121908520 GRCh37 Chromosome 2, 241813412: 241813412
20 AGXT NM_000030.2(AGXT): c.198C> G (p.Tyr66Ter) single nucleotide variant Pathogenic rs121908521 GRCh37 Chromosome 2, 241808619: 241808619
21 AGXT NM_000030.2(AGXT): c.245G> A (p.Gly82Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121908522 GRCh37 Chromosome 2, 241808666: 241808666
22 AGXT NM_000030.2(AGXT): c.121G> A (p.Gly41Arg) single nucleotide variant Pathogenic rs121908523 GRCh37 Chromosome 2, 241808403: 241808403
23 AGXT NM_000030.2(AGXT): c.454T> A (p.Phe152Ile) single nucleotide variant Pathogenic rs121908524 GRCh37 Chromosome 2, 241810796: 241810796
24 AGXT NM_000030.2(AGXT): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh37 Chromosome 2, 241814576: 241814576
25 AGXT NM_000030.2(AGXT): c.697C> T (p.Arg233Cys) single nucleotide variant Pathogenic rs121908526 GRCh37 Chromosome 2, 241814542: 241814542
26 AGXT NM_000030.2(AGXT): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic/Likely pathogenic rs121908527 GRCh37 Chromosome 2, 241814543: 241814543
27 AGXT NM_000030.2(AGXT): c.738G> A (p.Trp246Ter) single nucleotide variant Pathogenic rs121908528 GRCh37 Chromosome 2, 241814583: 241814583
28 AGXT NM_000030.2(AGXT): c.466G> A (p.Gly156Arg) single nucleotide variant Pathogenic rs121908530 GRCh37 Chromosome 2, 241810808: 241810808
29 AGXT NG_008005.1: g.(7706_9235)_(15375_?)del deletion Pathogenic GRCh38 Chromosome 2, 240871450: 240879119
30 AGXT NG_008005.1: g.(14407_14970)_(15375_?)del deletion Pathogenic GRCh38 Chromosome 2, 240878151: 240879119
31 subset of 29 genes:HDAC4 NC_000002.12: g.(?_239048168)_(240879119_?)del deletion Pathogenic GRCh38 Chromosome 2, 239048168: 240879119
32 AGXT NG_008005.1: g.(?_5001)_(9305_10233)del deletion Pathogenic GRCh38 Chromosome 2, 240868745: 240873977
33 AGXT NG_008005.1: g.(?_5001)_(11460_12190)del deletion Pathogenic GRCh38 Chromosome 2, 240868745: 240875934
34 AGXT NM_000030.2(AGXT): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs138584408 GRCh37 Chromosome 2, 241808284: 241808284
35 AGXT NM_000030.2(AGXT): c.2_3delTGinsAT (p.Met1Asn) indel Pathogenic rs180177194 GRCh37 Chromosome 2, 241808284: 241808285
36 AGXT NM_000030.2(AGXT): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs180177213 GRCh37 Chromosome 2, 241808285: 241808285
37 AGXT NM_000030.2(AGXT): c.22G> C (p.Val8Leu) single nucleotide variant Pathogenic rs796052057 GRCh37 Chromosome 2, 241808304: 241808304
38 AGXT NM_000030.2(AGXT): c.28C> T (p.Pro10Ser) single nucleotide variant Pathogenic rs180177191 GRCh37 Chromosome 2, 241808310: 241808310
39 AGXT NM_000030.2(AGXT): c.32C> G (p.Pro11Arg) single nucleotide variant Pathogenic rs34116584 GRCh37 Chromosome 2, 241808314: 241808314
40 AGXT NM_000030.2(AGXT): c.32_33delCC (p.Pro11Glnfs) deletion Pathogenic rs180177201 GRCh37 Chromosome 2, 241808314: 241808315
41 AGXT NM_000030.2(AGXT): c.74T> G (p.Leu25Arg) single nucleotide variant Pathogenic rs180177262 GRCh37 Chromosome 2, 241808356: 241808356
42 AGXT NM_000030.2(AGXT): c.77T> C (p.Leu26Pro) single nucleotide variant Pathogenic rs180177268 GRCh37 Chromosome 2, 241808359: 241808359
43 AGXT NM_000030.2(AGXT): c.83delC (p.Pro28Leufs) deletion Pathogenic rs180177278 GRCh37 Chromosome 2, 241808365: 241808365
44 AGXT NM_000030.2(AGXT): c.107G> A (p.Arg36His) single nucleotide variant Pathogenic rs180177162 GRCh37 Chromosome 2, 241808389: 241808389
45 AGXT NM_000030.2(AGXT): c.116_117dupCA (p.Ala40Glnfs) duplication Pathogenic/Likely pathogenic rs180177166 GRCh38 Chromosome 2, 240868981: 240868982
46 AGXT NM_000030.2(AGXT): c.122G> A (p.Gly41Glu) single nucleotide variant Pathogenic rs180177168 GRCh37 Chromosome 2, 241808404: 241808404
47 AGXT NM_000030.2(AGXT): c.125G> A (p.Gly42Glu) single nucleotide variant Pathogenic rs180177170 GRCh38 Chromosome 2, 240868990: 240868990
48 AGXT NM_000030.2(AGXT): c.126delG (p.Leu43Cysfs) deletion Pathogenic rs180177171 GRCh37 Chromosome 2, 241808408: 241808408
49 AGXT NM_000030.2(AGXT): c.130C> T (p.Gln44Ter) single nucleotide variant Pathogenic rs180177172 GRCh38 Chromosome 2, 240868995: 240868995
50 AGXT NM_000030.2(AGXT): c.139G> A (p.Gly47Arg) single nucleotide variant Pathogenic rs180177173 GRCh37 Chromosome 2, 241808421: 241808421

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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