HP1
MCID: HYP617
MIFTS: 39

Hyperoxaluria, Primary, Type 1 (HP1) malady

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

Aliases & Classifications for Hyperoxaluria, Primary, Type 1

Aliases & Descriptions for Hyperoxaluria, Primary, Type 1:

Name: Hyperoxaluria, Primary, Type 1 54 24 13
Glycolic Aciduria 50 24 56 66
Alanine-Glyoxylate Aminotransferase Deficiency 50 24 66
Primary Hyperoxaluria Type 1 23 50 56
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency 50 66
Serine Pyruvate Aminotransferase Deficiency 50 66
Hyperoxaluria, Primary, Type I 54 52
Primary Hyperoxaluria Type I 66 29
Hepatic Agt Deficiency 50 66
Hp1 50 66
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 24
Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency 56
Primary Hyperoxaluria, Type I 69
Hyperoxaluria Primary Type I 66
Hyperoxaluria Primary 1 66
Oxalosis 1 50
Oxalosis I 66
Ph1 66

Characteristics:

Orphanet epidemiological data:

56
primary hyperoxaluria type 1
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: All ages; Age of death: any age;

HPO:

32
hyperoxaluria, primary, type 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 259900
Orphanet 56 ORPHA93598
MESH via Orphanet 43 C536414
UMLS via Orphanet 70 C0268164
ICD10 via Orphanet 34 E74.8
MedGen 40 C0268164
MeSH 42 D006960

Summaries for Hyperoxaluria, Primary, Type 1

NIH Rare Diseases : 50 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 1, also known as glycolic aciduria, is related to primary hyperoxaluria and hepatitis, and has symptoms including bone pain, optic atrophy and renal insufficiency. An important gene associated with Hyperoxaluria, Primary, Type 1 is AGXT (Alanine-Glyoxylate Aminotransferase). The drugs Protective Agents and Bone Density Conservation Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone.

OMIM : 54 Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in... (259900) more...

UniProtKB/Swiss-Prot : 66 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 1

Diseases in the Primary Hyperoxaluria family:

Hyperoxaluria, Primary, Type 1 Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Primary, Type Iii

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

(show all 15)
id Related Disease Score Top Affiliating Genes
1 primary hyperoxaluria 10.9
2 hepatitis 10.2
3 nephrocalcinosis 10.1
4 kidney disease 9.9
5 peritonitis 9.9
6 hiv-1 9.8
7 leukemia 9.8
8 retinitis 9.8
9 autosomal dominant polycystic kidney disease 9.8
10 polycystic kidney disease 9.8
11 end stage renal failure 9.8
12 brachydactyly 9.8
13 autosomal recessive disease 9.8
14 thrombosis 9.8
15 hypothyroidism 9.8

Graphical network of the top 20 diseases related to Hyperoxaluria, Primary, Type 1:



Diseases related to Hyperoxaluria, Primary, Type 1

Symptoms & Phenotypes for Hyperoxaluria, Primary, Type 1

Symptoms by clinical synopsis from OMIM:

259900

Clinical features from OMIM:

259900

Human phenotypes related to Hyperoxaluria, Primary, Type 1:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 bone pain 32 HP:0002653
2 optic atrophy 32 HP:0000648
3 renal insufficiency 32 HP:0000083
4 retinopathy 32 HP:0000488
5 acrocyanosis 32 HP:0001063
6 atrioventricular block 32 HP:0001678
7 peripheral neuropathy 32 HP:0009830
8 pathologic fracture 32 HP:0002756
9 hematuria 32 HP:0000790
10 nephrocalcinosis 32 HP:0000121
11 increased bone mineral density 32 HP:0011001
12 metabolic acidosis 32 HP:0001942
13 gangrene 32 HP:0100758
14 cutis marmorata 32 HP:0000965
15 intermittent claudication 32 HP:0004417
16 calcium oxalate nephrolithiasis 32 HP:0008672
17 optic neuropathy 32 HP:0001138
18 hyperoxaluria 32 HP:0003159
19 peripheral artery occlusive disease 32 HP:0005315
20 retinal crystals 32 HP:0030507

UMLS symptoms related to Hyperoxaluria, Primary, Type 1:


bone pain

Drugs & Therapeutics for Hyperoxaluria, Primary, Type 1

Drugs for Hyperoxaluria, Primary, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protective Agents Phase 3
2 Bone Density Conservation Agents Phase 2, Phase 3
3 Calcium, Dietary Phase 2, Phase 3,Phase 1
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
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
8
Betaine Approved, Nutraceutical Phase 2 107-43-7 247
9
Pyridoxal Approved, Nutraceutical Phase 2 66-72-8 1050
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
11 Gastrointestinal Agents Phase 2
12 Histone Deacetylase Inhibitors Phase 2
13 Trace Elements Phase 2
14 Vitamin B 6 Phase 2
15 Vitamin B Complex Phase 2
16 Pharmaceutical Solutions Phase 2
17 Vitamins Phase 2
18 Hypolipidemic Agents Phase 2
19 Lipid Regulating Agents Phase 2
20 Antimetabolites Phase 2
21 Micronutrients Phase 2
22 Diphosphonates Phase 2
23 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
24 Anticholesteremic Agents Phase 2
25 Folate Nutraceutical Phase 2
26 Acidophilus Nutraceutical Phase 1, Phase 2
27
Pyridoxal Phosphate Nutraceutical Phase 2 54-47-7 1051
28 Vitamin B9 Nutraceutical Phase 2
29 Brewer's Yeast Nutraceutical Phase 1, Phase 2
30 leucine Nutraceutical Phase 1, Phase 2
31 Liver Extracts Phase 1
32
Iron Approved 7439-89-6 23925
33
Tetracycline Approved, Vet_approved 60-54-8 5353990
34
Clarithromycin Approved 81103-11-9 84029
35
Amoxicillin Approved, Vet_approved 26787-78-0 33613 2171
36
Metronidazole Approved 443-48-1 4173
37
Esomeprazole Approved, Investigational 161796-78-7, 119141-88-7 4594 9579578
38
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
39 ferric gluconate
40 Hematinics
41
Bismuth 7440-69-9 16682734 105143
42
Proton pump inhibitors
43 Cytochrome P-450 CYP3A Inhibitors
44 Cytochrome P-450 Enzyme Inhibitors
45 Tocopherols
46 Tocotrienols
47 Antacids
48 Anti-Bacterial Agents
49 Anti-Infective Agents
50 Anti-Ulcer Agents

Interventional clinical trials:

(show all 34)
id Name Status NCT ID Phase
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
2 Phase 2/3 Oxabact Study Completed NCT01037231 Phase 2, Phase 3
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 Not yet recruiting NCT03116685 Phase 3
5 Renal Protective Effect of ACEI and ARB in Primary Hyperoxaluria Withdrawn NCT00280215 Phase 3
6 Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2
7 Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria Completed NCT00283387 Phase 2
8 Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary Hyperoxaluria Completed NCT02012985 Phase 1, Phase 2
9 Vorinostat in Treating Patients With Metastatic or Unresectable Melanoma Completed NCT00121225 Phase 2
10 Use of Oral Probiotics to Reduce Urinary Oxalate Excretion Completed NCT00587041 Phase 1, Phase 2
11 Study of ALN-GO1 in Healthy Adult Subjects and Patients With Primary Hyperoxaluria Type 1 Recruiting NCT02706886 Phase 1, Phase 2
12 Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on Dialysis Recruiting NCT02000219 Phase 2
13 Hydroxyproline Influence on Oxalate Metabolism Active, not recruiting NCT02038543 Phase 1, Phase 2
14 Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria Enrolling by invitation NCT00916747 Phase 2
15 A Trial of Pyridoxamine to Lower Urine Oxalate in Subjects With Stone Disease or Hyperoxaluria Withdrawn NCT00490113 Phase 2
16 Primary Hyperoxaluria Mutation Genotyping Completed NCT00589225 Phase 1
17 A Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1) Active, not recruiting NCT02795325 Phase 1
18 Enteric Oxalate Absorption Study in Unclassified Hyperoxaluria Active, not recruiting NCT00588120 Phase 1
19 The Type of Hepatoglobin in IUGR Unknown status NCT02127385
20 Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin Genotype Unknown status NCT02312414
21 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009
22 Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non Exacerbators Completed NCT01745419
23 Haptoglobin Phenotype, Vitamin E and High-density Lipoprotein (HDL) Function in Type 1 Diabetes Completed NCT01098994
24 Five Days Quadruple and Clarithromycin Containing Triple Therapy as Treatment for Helicobacter Pylori Eradication Completed NCT01306786
25 Primary Hyperoxaluria Mutation Genotyping/Phenotyping Recruiting NCT02340689
26 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
27 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
28 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
29 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
30 Haptoglobin and Diabetes Complications in Pregnancy Recruiting NCT01758016
31 Proteomics of Primary Hyperoxaluria Type 1 Active, not recruiting NCT03067142
32 Associations Between Diabetes Care and Haptoglobin Genotype On outComes Active, not recruiting NCT00872456
33 Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients Not yet recruiting NCT02794649
34 International Registry for Primary Hyperoxaluria Withdrawn NCT00875823

Search NIH Clinical Center for Hyperoxaluria, Primary, Type 1

Genetic Tests for Hyperoxaluria, Primary, Type 1

Genetic tests related to Hyperoxaluria, Primary, Type 1:

id Genetic test Affiliating Genes
1 Primary Hyperoxaluria, Type I 29
2 Hyperoxaluria, Primary, Type 1 24 AGXT

Anatomical Context for Hyperoxaluria, Primary, Type 1

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

39
Kidney, Liver, Bone

Publications for Hyperoxaluria, Primary, Type 1

Variations for Hyperoxaluria, Primary, Type 1

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

66 (show all 40)
id 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 1:

6 (show top 50) (show all 179)
id 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.198C> G (p.Tyr66Ter) single nucleotide variant Pathogenic rs121908521 GRCh37 Chromosome 2, 241808619: 241808619
3 AGXT NM_000030.2(AGXT): c.245G> A (p.Gly82Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121908522 GRCh37 Chromosome 2, 241808666: 241808666
4 AGXT NM_000030.2(AGXT): c.121G> A (p.Gly41Arg) single nucleotide variant Pathogenic rs121908523 GRCh37 Chromosome 2, 241808403: 241808403
5 AGXT NM_000030.2(AGXT): c.454T> A (p.Phe152Ile) single nucleotide variant Pathogenic rs121908524 GRCh37 Chromosome 2, 241810796: 241810796
6 AGXT NM_000030.2(AGXT): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh37 Chromosome 2, 241814576: 241814576
7 AGXT NM_000030.2(AGXT): c.697C> T (p.Arg233Cys) single nucleotide variant Pathogenic rs121908526 GRCh37 Chromosome 2, 241814542: 241814542
8 AGXT NM_000030.2(AGXT): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic/Likely pathogenic rs121908527 GRCh37 Chromosome 2, 241814543: 241814543
9 AGXT NM_000030.2(AGXT): c.738G> A (p.Trp246Ter) single nucleotide variant Pathogenic rs121908528 GRCh37 Chromosome 2, 241814583: 241814583
10 AGXT NM_000030.2(AGXT): c.466G> A (p.Gly156Arg) single nucleotide variant Pathogenic rs121908530 GRCh37 Chromosome 2, 241810808: 241810808
11 AGXT NM_000030.2(AGXT): c.508G> A (p.Gly170Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908529 GRCh37 Chromosome 2, 241810850: 241810850
12 AGXT AGXT, 1-BP INS, 33C insertion Pathogenic
13 AGXT NM_000030.2(AGXT): c.33dupC (p.Lys12Glnfs) duplication Pathogenic rs398122322 GRCh37 Chromosome 2, 241808315: 241808315
14 AGXT NM_000030.2(AGXT): c.560C> T (p.Ser187Phe) single nucleotide variant Pathogenic rs180177238 GRCh37 Chromosome 2, 241812431: 241812431
15 AGXT NM_000030.2(AGXT): c.33delC (p.Lys12Argfs) deletion Pathogenic/Likely pathogenic rs180177205 GRCh37 Chromosome 2, 241808315: 241808315
16 AGXT NM_000030.2(AGXT): c.106C> T (p.Arg36Cys) single nucleotide variant Pathogenic/Likely pathogenic rs180177157 GRCh37 Chromosome 2, 241808388: 241808388
17 AGXT NM_000030.2(AGXT): c.122G> T (p.Gly41Val) single nucleotide variant Pathogenic/Likely pathogenic rs180177168 GRCh38 Chromosome 2, 240868987: 240868987
18 AGXT NM_000030.2(AGXT): c.302T> C (p.Leu101Pro) single nucleotide variant Pathogenic/Likely pathogenic rs180177195 GRCh37 Chromosome 2, 241808723: 241808723
19 AGXT NM_000030.2(AGXT): c.322T> C (p.Trp108Arg) single nucleotide variant Pathogenic/Likely pathogenic rs180177197 GRCh37 Chromosome 2, 241808743: 241808743
20 AGXT NM_000030.2(AGXT): c.346G> A (p.Gly116Arg) single nucleotide variant Pathogenic/Likely pathogenic rs180177207 GRCh38 Chromosome 2, 240869350: 240869350
21 AGXT NM_000030.2(AGXT): c.481G> T (p.Gly161Cys) single nucleotide variant Pathogenic/Likely pathogenic rs180177227 GRCh37 Chromosome 2, 241810823: 241810823
22 AGXT NM_000030.2(AGXT): c.568G> A (p.Gly190Arg) single nucleotide variant Pathogenic/Likely pathogenic rs180177239 GRCh37 Chromosome 2, 241812439: 241812439
23 AGXT NM_000030.2(AGXT): c.653C> T (p.Ser218Leu) single nucleotide variant Pathogenic/Likely pathogenic rs180177253 GRCh37 Chromosome 2, 241813452: 241813452
24 AGXT NM_000030.2(AGXT): c.737G> A (p.Trp246Ter) single nucleotide variant Pathogenic/Likely pathogenic rs180177259 GRCh37 Chromosome 2, 241814582: 241814582
25 AGXT NM_000030.2(AGXT): c.752G> A (p.Trp251Ter) single nucleotide variant Likely pathogenic rs786204545 GRCh38 Chromosome 2, 240875180: 240875180
26 AGXT NM_000030.2(AGXT): c.777-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs180177267 GRCh37 Chromosome 2, 241815351: 241815351
27 AGXT NM_000030.2(AGXT): c.976delG (p.Val326Tyrfs) deletion Pathogenic/Likely pathogenic rs180177301 GRCh37 Chromosome 2, 241817472: 241817472
28 AGXT NM_000030.2(AGXT): c.1049G> A (p.Gly350Asp) single nucleotide variant Pathogenic/Likely pathogenic rs180177156 GRCh37 Chromosome 2, 241817545: 241817545
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 28 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 GRCh38 Chromosome 2, 240868868: 240868868
37 AGXT NM_000030.2(AGXT): c.22G> C (p.Val8Leu) single nucleotide variant Pathogenic rs796052057 GRCh38 Chromosome 2, 240868887: 240868887
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 GRCh38 Chromosome 2, 240868897: 240868897
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 GRCh38 Chromosome 2, 240868948: 240868948
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 GRCh38 Chromosome 2, 240868987: 240868987
47 AGXT NM_000030.2(AGXT): c.125G> A (p.Gly42Glu) single nucleotide variant Pathogenic rs180177170 GRCh37 Chromosome 2, 241808407: 241808407
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 GRCh37 Chromosome 2, 241808412: 241808412
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 1

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Pathways for Hyperoxaluria, Primary, Type 1

GO Terms for Hyperoxaluria, Primary, Type 1

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