HP1
MCID: HYP794
MIFTS: 63

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 54 39
Primary Hyperoxaluria Type 1 12 25 20 58 44 15
Glycolic Aciduria 57 12 20 58 72
Hp1 57 12 20 72 15
Alanine-Glyoxylate Aminotransferase Deficiency 57 12 20 72
Hepatic Agt Deficiency 57 12 20 72
Primary Hyperoxaluria, Type I 29 6 70
Oxalosis I 57 12 72
Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency 12 58
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency 20 72
Serine:pyruvate Aminotransferase Deficiency 57 12
Serine Pyruvate Aminotransferase Deficiency 20 72
Hyperoxaluria, Primary, Type 1 57 13
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 57
Hyperoxaluria Primary Type I 72
Primary Hyperoxaluria Type I 72
Hyperoxaluria Primary 1 72
Oxalosis 1 20
Ph1 72

Characteristics:

Orphanet epidemiological data:

58
primary hyperoxaluria type 1
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: All ages; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
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:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism


Summaries for Hyperoxaluria, Primary, Type I

GARD : 20 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 primary hyperoxaluria type 1, is related to primary hyperoxaluria and inherited metabolic disorder, and has symptoms including bone pain An important gene associated with Hyperoxaluria, Primary, Type I is AGXT (Alanine--Glyoxylate And Serine--Pyruvate Aminotransferase), and among its related pathways/superpathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Gene Expression. The drugs Pharmaceutical Solutions and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and eye, and related phenotypes are anemia and nephrocalcinosis

Disease Ontology : 12 A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumuation of calcium oxalate in various tissues that has material basis in homozygous or compound heterozygous mutation in AGXT on chromosome 2q37.3.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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:

(show top 50) (show all 213)
# Related Disease Score Top Affiliating Genes
1 primary hyperoxaluria 31.1 ZNF23 TRIM28 SUV39H1 SETDB1 KDM4C IRF4
2 inherited metabolic disorder 30.8 SUV39H1 KDM4C H3-2 H2AC18 CBX5 CBX3
3 alpha thalassemia-x-linked intellectual disability syndrome 30.3 H3-2 H2AC20 H2AC18 CBX5
4 immunodeficiency-centromeric instability-facial anomalies syndrome 30.2 SUV39H1 H3-2 H2AC18 CBX5 CBX3
5 leukemia, acute myeloid 30.2 KDM4C H4C14 H4C13 H4C12 H4C11 H4C1
6 hyperoxaluria, primary, type iii 11.3
7 end stage renal disease 10.9
8 urolithiasis 10.8
9 leukemia, chronic myeloid 10.7
10 myeloid leukemia 10.7
11 leukemia, acute lymphoblastic 10.6
12 kidney disease 10.6
13 leukemia 10.5
14 disorder of glyoxylate metabolism 10.5
15 acute leukemia 10.5
16 haemophilus influenzae 10.4
17 epilepsy, idiopathic generalized 2 10.4 H3-2 H2AC20 H2AC18
18 hyperinsulinemic hypoglycemia, familial, 3 10.4 H4-16 H2AC20 H2AC18
19 kleefstra syndrome 1 10.4 KDM4C H2AC18 EHMT2
20 spherocytosis, type 4 10.4 ZNF23 H3-2 H2AC18
21 kleefstra syndrome 10.4 KDM4C H3-2 H2AC18 EHMT2
22 biotin deficiency 10.4 H4-16 H2AC20 H2AC18
23 mature t-cell and nk-cell lymphoma 10.4 KDM4C H3-2 H2AC18
24 kabuki syndrome 1 10.4 KDM4C IRF4 H3-2 H2AC18
25 weaver syndrome 10.4 KDM4C H3-2 H2AC18
26 transient neonatal diabetes mellitus 10.4 ZNF23 TRIM28 SETDB1 H2AC18
27 chromosomal triplication 10.4
28 hypotrichosis 1 10.3 KDM4C H3-2 H2AC18
29 cartilage-hair hypoplasia 10.3 H3-2 H2AC20 H2AC18
30 autosomal genetic disease 10.3 KDM4C IRF4 H3-2 H2AC18
31 hyperoxaluria, primary, type ii 10.3
32 bone disease 10.3
33 mature b-cell neoplasm 10.3 KDM4C IRF4 H2AC18
34 alpha-thalassemia 10.3 H4C11 H3-2 H2AC18 CBX5
35 bile duct adenocarcinoma 10.3 ZNF23 KDM4C H2AC18
36 splenomegaly 10.3
37 retinal cancer 10.3 KDM4C H3-2 H2AC18
38 cockayne syndrome 10.3 H4C1 H2AC20 H2AC18 EHMT2 CBX3
39 peroxisomal disease 10.3
40 transvestism 10.3 H2AC20 H2AC18
41 urinary tract infection 10.3
42 uremia 10.3
43 chronic kidney disease 10.3
44 leukocyte disease 10.3 KDM4C IRF4 H2AC18
45 myelofibrosis 10.2
46 human cytomegalovirus infection 10.2
47 polycystic kidney disease 10.2
48 renal osteodystrophy 10.2
49 calcinosis 10.2
50 cerebellar disease 10.2 KDM4C IRF4 H2AC18

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

Human phenotypes related to Hyperoxaluria, Primary, Type I:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
2 nephrocalcinosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000121
3 nephrolithiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000787
4 metabolic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001942
5 calcinosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003761
6 hyperoxaluria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003159
7 abnormality of circulating enzyme level 58 31 hallmark (90%) Very frequent (99-80%) HP:0011021
8 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
9 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
10 dysuria 58 31 frequent (33%) Frequent (79-30%) HP:0100518
11 decreased glomerular filtration rate 58 31 frequent (33%) Frequent (79-30%) HP:0012213
12 abnormality of the skeletal system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000924
13 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
14 enuresis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000805
15 stage 5 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0003774
16 abnormality of the dentition 58 31 very rare (1%) Very rare (<4-1%) HP:0000164
17 stroke 58 31 very rare (1%) Very rare (<4-1%) HP:0001297
18 atherosclerosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002621
19 optic atrophy 31 HP:0000648
20 renal insufficiency 31 HP:0000083
21 retinopathy 31 HP:0000488
22 acrocyanosis 31 HP:0001063
23 atrioventricular block 31 HP:0001678
24 increased bone mineral density 31 HP:0011001
25 peripheral neuropathy 31 HP:0009830
26 abnormality of metabolism/homeostasis 58 Very rare (<4-1%)
27 bone pain 31 HP:0002653
28 cutis marmorata 31 HP:0000965
29 gangrene 31 HP:0100758
30 optic neuropathy 31 HP:0001138
31 raynaud phenomenon 31 HP:0030880
32 pathologic fracture 31 HP:0002756
33 intermittent claudication 31 HP:0004417
34 peripheral arterial stenosis 31 HP:0004950
35 choroidal neovascularization 31 HP:0011506
36 calcium oxalate nephrolithiasis 31 HP:0008672
37 arterial occlusion 31 HP:0025324
38 calcinosis cutis 31 HP:0025520
39 retinal crystals 31 HP:0030507

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
optic atrophy
retinopathy
choroidal neovascularization
vision impairment, mild

Genitourinary Kidneys:
hematuria
nephrocalcinosis
renal failure
calcium oxalate urolithiasis

Skeletal:
bone pain
pathologic fractures
osteosclerosis

Cardiovascular Heart:
heart block

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

Neurologic Peripheral Nervous System:
peripheral neuropathy

Cardiovascular Vascular:
gangrene
raynaud phenomenon
intermittent claudication
peripheral vascular insufficiency
arterial occlusion
more
Metabolic Features:
metabolic acidosis

Head And Neck Teeth:
root resorption
pulp exposure
tooth mobility

Clinical features from OMIM®:

259900 (Updated 05-Apr-2021)

UMLS symptoms related to Hyperoxaluria, Primary, Type I:


bone pain

GenomeRNAi Phenotypes related to Hyperoxaluria, Primary, Type I according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.09 H2AC18 H2AC20 H4C13
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-114 10.09 IRF4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.09 H4C13
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.09 IRF4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.09 H2AC18 H2AC20 H4C13
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 10.09 IRF4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.09 H2AC18 H2AC20
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.09 H2AC18 H2AC20 H4C13
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 10.09 IRF4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.09 H2AC20
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.09 H4C14
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.09 IRF4
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 10.09 H4C13
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 10.09 IRF4
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.09 H2AC18 H2AC20
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.09 H2AC18 H2AC20
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.09 H4C14
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.09 H2AC18 H2AC20
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.09 H4C14
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 10.09 IRF4
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.09 IRF4
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-99 10.09 IRF4

Drugs & Therapeutics for Hyperoxaluria, Primary, Type I

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
3
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 2 54-47-7 1051
4
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
5 Vitamin B9 Phase 2
6 Nutrients Phase 2
7 Micronutrients Phase 2
8 Trace Elements Phase 2
9 Vitamins Phase 2
10 Vitamin B Complex Phase 2
11 Vitamin B 6 Phase 2
12 Folate Phase 2
13
Pyridoxal Experimental, Nutraceutical Phase 2 66-72-8 1050
14 Calcium, Dietary Phase 1
15 Liver Extracts Phase 1
16
Calcium Nutraceutical Phase 1 7440-70-2 271

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 ILLUMINATE-A: A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study With an Extended Dosing Period to Evaluate the Efficacy and Safety of Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1 Active, not recruiting NCT03681184 Phase 3 Placebo;Lumasiran
2 ILLUMINATE-C: A Single Arm Study to Evaluate Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Lumasiran in Patients With Advanced Primary Hyperoxaluria Type 1 (PH1) Active, not recruiting NCT04152200 Phase 3 Lumasiran
3 ILLUMINATE-B: An Open-Label Study to Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Lumasiran in Infants and Young Children With Primary Hyperoxaluria Type 1 Active, not recruiting NCT03905694 Phase 3 Lumasiran
4 An Open-Label Roll-Over Study to Evaluate the Long-Term Safety and Efficacy of DCR-PHXC Solution for Injection (Subcutaneous Use) in Patients With Primary Hyperoxaluria Enrolling by invitation NCT04042402 Phase 3 DCR-PHXC
5 PILOTSTUDIE ZUR PYRIDOXALPHOSPHATTHERAPIE BEI PATIENTEN MIT PRIMÄRER HYPEROXALURIE TYP I (PHOX-B6-PILOT) Pilot Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2 Vitamin B 6
6 A Phase 1/2, Single-Blind, Placebo-Controlled, Single and Multiple Ascending Dose Safety, Tolerability, Pharmacokinetic and Pharmacodynamics Study of Subcutaneously Administered ALN-GO1 in Healthy Adult Subjects, and Patients With Primary Hyperoxaluria Type 1 Completed NCT02706886 Phase 1, Phase 2 Lumasiran;Placebo
7 A Phase 2 Placebo-Controlled, Double-Blind, Multicenter Study to Evaluate the Efficacy, Safety, and Tolerability of DCR-PHXC Solution for Injection (Subcutaneous Use) in Patients With Primary Hyperoxaluria Active, not recruiting NCT03847909 Phase 2 DCR-PHXC;Sterile Normal Saline (0.9% NaCl)
8 A Phase 2, Multicenter, Open-Label, Extension Study to Evaluate the Long-Term Administration of ALN-GO1 in Patients With Primary Hyperoxaluria Type 1 Active, not recruiting NCT03350451 Phase 2 Lumasiran
9 A Phase 2 Open-Label Study to Evaluate the Safety and Efficacy of DCR-PHXC in Patients With Primary Hyperoxaluria Type 1 or 2 and Severe Renal Impairment, With or Without Dialysis Not yet recruiting NCT04580420 Phase 2 DCR-PHXC
10 A Phase 1 Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1) Terminated NCT02795325 Phase 1 DCR-PH1
11 Expanded Access Protocol to Provide Lumasiran to Patients With Primary Hyperoxaluria Type 1 Approved for marketing NCT04125472 Lumasiran
12 "Pilot Study: Proteomics of Primary Hyperoxaluria Type 1 (PH1): A Rare Calcium Oxalate Stone Disease" Completed NCT03067142
13 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009

Search NIH Clinical Center for Hyperoxaluria, Primary, Type I

Cochrane evidence based reviews: primary hyperoxaluria type 1

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:

40
Kidney, Liver, Eye, Bone, Heart, Bone Marrow, Small Intestine

Publications for Hyperoxaluria, Primary, Type I

Articles related to Hyperoxaluria, Primary, Type I:

(show top 50) (show all 532)
# Title Authors PMID Year
1
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. 61 25 57 6
19479957 2009
2
Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. 6 61 25 57
1961759 1991
3
Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. 57 6 61
10453743 1999
4
Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. 57 6 54
2039493 1991
5
Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. 61 57 6
1703535 1990
6
Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluria. 61 25 6
25363903 2015
7
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. 61 25 6
24988064 2014
8
Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele. 25 61 6
23229545 2013
9
Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort. 25 6 61
22844106 2012
10
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2. 25 61 6
22821680 2012
11
Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1. 61 6 25
22529745 2012
12
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. 25 6 61
20016466 2010
13
Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I. 25 54 6
20133649 2010
14
Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation. 61 25 6
19155213 2009
15
In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase. 25 6 54
18782763 2008
16
Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants. 61 25 6
18448374 2008
17
Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. 6 25 61
18282470 2008
18
Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications. 54 25 6
17696873 2007
19
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. 6 61 25
17495019 2007
20
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. 6 25 54
17460142 2007
21
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations. 61 25 6
16971151 2006
22
Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1. 61 6 25
16850020 2006
23
Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience. 61 25 6
16912707 2006
24
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. 61 25 6
15963748 2005
25
Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype. 61 25 6
15961945 2005
26
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel. 61 25 6
15961946 2005
27
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis. 61 25 6
15464418 2004
28
Clinical implications of mutation analysis in primary hyperoxaluria type 1. 61 25 6
15253729 2004
29
The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1. 61 25 6
15110324 2004
30
Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1. 61 25 6
12899834 2003
31
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. 25 6 61
12777626 2003
32
Primary hyperoxaluria: genotype-phenotype correlation. 61 6 25
12768081 2003
33
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans. 6 25 61
12559847 2003
34
Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria. 61 25 6
11708860 2001
35
Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. 25 61 6
10960483 2000
36
Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1. 6 25 61
10737993 2000
37
Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group. 61 25 6
10541294 1999
38
A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. 25 6 61
9002528 1997
39
Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation. 61 6 25
8101040 1993
40
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 6 25
25644115 2015
41
Stroke in primary hyperoxaluria type I. 6 25
23551880 2014
42
Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice. 25 6
24385516 2014
43
The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I. 25 6
24205397 2013
44
Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I. 6 25
22018727 2012
45
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele. 6 25
15840016 2005
46
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria. 6 25
15849466 2005
47
Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1. 61 6
27935012 2017
48
Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey. 61 6
27915025 2016
49
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1. 61 6
24934730 2014
50
Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria. 61 6
24718375 2014

Variations for Hyperoxaluria, Primary, Type I

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

6 (show top 50) (show all 308)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AGXT NM_000030.3(AGXT):c.358+1G>T SNV Pathogenic 204151 rs796052067 GRCh37: 2:241808780-241808780
GRCh38: 2:240869363-240869363
2 AGXT NM_000030.3(AGXT):c.358+2T>G SNV Pathogenic 204152 rs113681235 GRCh37: 2:241808781-241808781
GRCh38: 2:240869364-240869364
3 AGXT NM_000030.3(AGXT):c.680+1G>C SNV Pathogenic 204153 rs111996685 GRCh37: 2:241813480-241813480
GRCh38: 2:240874063-240874063
4 AGXT NM_000030.3(AGXT):c.680+1G>A SNV Pathogenic 204154 rs111996685 GRCh37: 2:241813480-241813480
GRCh38: 2:240874063-240874063
5 AGXT NM_000030.3(AGXT):c.680+2T>A SNV Pathogenic 204155 rs111742810 GRCh37: 2:241813481-241813481
GRCh38: 2:240874064-240874064
6 AGXT NM_000030.3(AGXT):c.680+5G>C SNV Pathogenic 204156 rs180177256 GRCh37: 2:241813484-241813484
GRCh38: 2:240874067-240874067
7 AGXT NM_000030.3(AGXT):c.776+1G>C SNV Pathogenic 204158 rs180177265 GRCh37: 2:241814622-241814622
GRCh38: 2:240875205-240875205
8 AGXT NM_000030.3(AGXT):c.846+1G>T SNV Pathogenic 204159 rs180177281 GRCh37: 2:241815422-241815422
GRCh38: 2:240876005-240876005
9 AGXT NM_000030.3(AGXT):c.846+1G>A SNV Pathogenic 204160 rs180177281 GRCh37: 2:241815422-241815422
GRCh38: 2:240876005-240876005
10 AGXT NM_000030.3(AGXT):c.942+1G>T SNV Pathogenic 204161 rs180177297 GRCh37: 2:241817050-241817050
GRCh38: 2:240877633-240877633
11 AGXT NM_000030.3(AGXT):c.1071+1G>A SNV Pathogenic 204162 rs180177158 GRCh37: 2:241817568-241817568
GRCh38: 2:240878151-240878151
12 AGXT NM_000030.3(AGXT):c.166-1G>A SNV Pathogenic 204163 rs180177177 GRCh37: 2:241808586-241808586
GRCh38: 2:240869169-240869169
13 AGXT NM_000030.3(AGXT):c.525-1G>A SNV Pathogenic 204165 rs180177234 GRCh37: 2:241812395-241812395
GRCh38: 2:240872978-240872978
14 AGXT NM_000030.3(AGXT):c.596-2A>G SNV Pathogenic 204166 rs180177245 GRCh37: 2:241813393-241813393
GRCh38: 2:240873976-240873976
15 AGXT NM_000030.3(AGXT):c.777-2A>G SNV Pathogenic 204167 rs796052068 GRCh37: 2:241815350-241815350
GRCh38: 2:240875933-240875933
16 AGXT NM_000030.3(AGXT):c.943-1G>A SNV Pathogenic 204171 rs180177298 GRCh37: 2:241817438-241817438
GRCh38: 2:240878021-240878021
17 AGXT NM_000030.3(AGXT):c.299_307dup (p.Gly103_Ala104insValLeuVal) Duplication Pathogenic 204181 rs180177193 GRCh37: 2:241808719-241808720
GRCh38: 2:240869302-240869303
18 AGXT NM_000030.3(AGXT):c.359-1_382del Deletion Pathogenic 204183 rs796052070 GRCh37: 2:241810057-241810081
GRCh38: 2:240870640-240870664
19 AGXT NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn) Indel Pathogenic 204188 rs180177233 GRCh37: 2:241810861-241810862
GRCh38: 2:240871444-240871445
20 AGXT NM_000030.3(AGXT):c.557_562delinsATCGGT (p.Ala186_Ser187delinsAspArg) Indel Pathogenic 204189 rs180177237 GRCh37: 2:241812428-241812433
GRCh38: 2:240873011-240873016
21 AGXT NM_000030.3(AGXT):c.679_680+2del Deletion Pathogenic 204195 rs180177255 GRCh37: 2:241813478-241813481
GRCh38: 2:240874061-240874064
22 AGXT NM_000030.3(AGXT):c.680+480_776+69delinsTGAGA Indel Pathogenic 204196 rs1553648931 GRCh37: 2:241813959-241814690
GRCh38: 2:240874542-240875273
23 AGXT NM_000030.3(AGXT):c.829_830insA (p.Ala277fs) Insertion Pathogenic 204202 rs180177275 GRCh37: 2:241815404-241815405
GRCh38: 2:240875987-240875988
24 AGXT NM_000030.3(AGXT):c.846+646_942+139del Deletion Pathogenic 204204 GRCh37: 2:241816067-241817188
GRCh38: 2:240876650-240877771
25 AGXT NG_008005.1:g.(14407_14970)_(15375_?)del Deletion Pathogenic 204213 GRCh37: 2:241817568-241818536
GRCh38: 2:240878151-240879119
26 AGXT NG_008005.1:g.(?_5001)_(9305_10233)del Deletion Pathogenic 204214 GRCh37: 2:241808162-241813394
GRCh38: 2:240868745-240873977
27 AGXT NG_008005.1:g.(?_5001)_(11460_12190)del Deletion Pathogenic 204215 GRCh37: 2:241808162-241815351
GRCh38: 2:240868745-240875934
28 AGXT NG_008005.1:g.(7706_9235)_(15375_?)del Deletion Pathogenic 204216 GRCh37: 2:241810867-241818536
GRCh38: 2:240871450-240879119
29 overlap with 36 genes NC_000002.12:g.(?_239048168)_(240879119_?)del Deletion Pathogenic 204217 GRCh37:
GRCh38: 2:239048168-240879119
30 AGXT AGXT, 1-BP INS, 33C Insertion Pathogenic 39487 GRCh37:
GRCh38:
31 AGXT NM_000030.3(AGXT):c.466G>C (p.Gly156Arg) SNV Pathogenic 552979 rs121908530 GRCh37: 2:241810808-241810808
GRCh38: 2:240871391-240871391
32 AGXT NM_000030.3(AGXT):c.406_410dup (p.Gln137fs) Duplication Pathogenic 557281 rs1553648488 GRCh37: 2:241810105-241810106
GRCh38: 2:240870688-240870689
33 AGXT NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) SNV Pathogenic 5640 rs121908520 GRCh37: 2:241813412-241813412
GRCh38: 2:240873995-240873995
34 AGXT NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) SNV Pathogenic 5644 rs121908523 GRCh37: 2:241808403-241808403
GRCh38: 2:240868986-240868986
35 AGXT NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) SNV Pathogenic 5645 rs121908524 GRCh37: 2:241810796-241810796
GRCh38: 2:240871379-240871379
36 AGXT NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) SNV Pathogenic 5646 rs121908525 GRCh37: 2:241814576-241814576
GRCh38: 2:240875159-240875159
37 AGXT NM_000030.3(AGXT):c.738G>A (p.Trp246Ter) SNV Pathogenic 5649 rs121908528 GRCh37: 2:241814583-241814583
GRCh38: 2:240875166-240875166
38 AGXT NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) SNV Pathogenic 5650 rs121908530 GRCh37: 2:241810808-241810808
GRCh38: 2:240871391-240871391
39 AGXT NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter) SNV Pathogenic 5642 rs121908521 GRCh37: 2:241808619-241808619
GRCh38: 2:240869202-240869202
40 AGXT NM_000030.3(AGXT):c.33dup (p.Lys12fs) Duplication Pathogenic 140583 rs180177201 GRCh37: 2:241808307-241808308
GRCh38: 2:240868890-240868891
41 AGXT NM_000030.3(AGXT):c.139G>A (p.Gly47Arg) SNV Pathogenic 204076 rs180177173 GRCh37: 2:241808421-241808421
GRCh38: 2:240869004-240869004
42 AGXT NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) SNV Pathogenic 204077 rs180177180 GRCh37: 2:241808588-241808588
GRCh38: 2:240869171-240869171
43 AGXT NM_000030.3(AGXT):c.175G>A (p.Glu59Lys) SNV Pathogenic 204078 rs767586362 GRCh37: 2:241808596-241808596
GRCh38: 2:240869179-240869179
44 AGXT NM_000030.3(AGXT):c.187G>C (p.Gly63Arg) SNV Pathogenic 204079 rs180177181 GRCh37: 2:241808608-241808608
GRCh38: 2:240869191-240869191
45 AGXT NM_000030.3(AGXT):c.205C>T (p.Gln69Ter) SNV Pathogenic 204080 rs180177182 GRCh37: 2:241808626-241808626
GRCh38: 2:240869209-240869209
46 AGXT NM_000030.3(AGXT):c.209C>A (p.Thr70Asn) SNV Pathogenic 204081 rs796052058 GRCh37: 2:241808630-241808630
GRCh38: 2:240869213-240869213
47 AGXT NM_000030.3(AGXT):c.242C>A (p.Ser81Ter) SNV Pathogenic 204082 rs180177184 GRCh37: 2:241808663-241808663
GRCh38: 2:240869246-240869246
48 AGXT NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) SNV Pathogenic 204083 rs180177184 GRCh37: 2:241808663-241808663
GRCh38: 2:240869246-240869246
49 AGXT NM_000030.3(AGXT):c.244G>C (p.Gly82Arg) SNV Pathogenic 204084 rs180177185 GRCh37: 2:241808665-241808665
GRCh38: 2:240869248-240869248
50 AGXT NM_000030.3(AGXT):c.248A>G (p.His83Arg) SNV Pathogenic 204085 rs180177186 GRCh37: 2:241808669-241808669
GRCh38: 2:240869252-240869252

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

72 (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

Expression for Hyperoxaluria, Primary, Type I

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

Pathways for Hyperoxaluria, Primary, Type I

Pathways related to Hyperoxaluria, Primary, Type I according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 SUV39H1 KDM4C H4C14 H4C13 H4C12 H4C11
2
Show member pathways
13.76 ZNF23 TRIM28 SUV39H1 H4C14 H4C13 H4C12
3
Show member pathways
13.4 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
4
Show member pathways
13.34 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
5
Show member pathways
13.13 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
6
Show member pathways
13.08 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
7
Show member pathways
12.97 KDM4C H4C14 H4C13 H4C12 H4C11 H4C1
8
Show member pathways
12.86 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
9
Show member pathways
12.66 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
10
Show member pathways
12.61 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
11
Show member pathways
12.58 SUV39H1 SETDB1 KDM4C H4C14 H4C13 H4C12
12
Show member pathways
12.54 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
13
Show member pathways
12.43 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
14
Show member pathways
12.38 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
15 12.33 TRIM28 SUV39H1 SETDB1 H4C1 EHMT2 CBX5
16 12.32 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
17
Show member pathways
12.21 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
18
Show member pathways
12.18 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
19 11.57 SUV39H1 SETDB1 EHMT2
20
Show member pathways
11.43 SUV39H1 SETDB1 H4C14 H4C13 H4C12 H4C11
21 11.22 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16

GO Terms for Hyperoxaluria, Primary, Type I

Cellular components related to Hyperoxaluria, Primary, Type I according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.35 ZNF23 TRIM28 SUV39H1 SETDB1 KDM4C IRF4
2 nucleoplasm GO:0005654 10.31 TRIM28 SUV39H1 SETDB1 KDM4C IRF4 H4C14
3 extracellular exosome GO:0070062 10.15 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
4 chromatin GO:0000785 10.11 TRIM28 KDM4C IRF4 H2AC20 H2AC18 EHMT2
5 protein-containing complex GO:0032991 10.06 TRIM28 H4C14 H4C13 H4C12 H4C11 H4C1
6 host cell nucleus GO:0042025 9.87 SETDB1 H4C14 H4C13 H4C12 H4C11 H4C1
7 chromosome, centromeric region GO:0000775 9.83 SUV39H1 CBX5 CBX3 CBX1
8 chromosome, telomeric region GO:0000781 9.81 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
9 heterochromatin GO:0000792 9.8 TRIM28 SUV39H1 CBX5 CBX3 CBX1
10 nuclear chromosome GO:0000228 9.73 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
11 site of DNA damage GO:0090734 9.67 CBX5 CBX3 CBX1
12 pericentric heterochromatin GO:0005721 9.65 CBX5 CBX3 CBX1
13 nucleosome GO:0000786 9.65 IRF4 H4C14 H4C13 H4C12 H4C11 H4C1
14 chromocenter GO:0010369 9.54 CBX5 CBX1
15 chromosome GO:0005694 9.44 SUV39H1 SETDB1 H4C14 H4C13 H4C12 H4C11

Biological processes related to Hyperoxaluria, Primary, Type I according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 10.02 TRIM28 SUV39H1 SETDB1 KDM4C EHMT2 CBX3
2 cellular protein metabolic process GO:0044267 10.01 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
3 negative regulation of transcription, DNA-templated GO:0045892 10 TRIM28 SUV39H1 CBX5 CBX3 CBX1
4 nucleosome assembly GO:0006334 10 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
5 regulation of gene silencing by miRNA GO:0060964 9.99 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
6 double-strand break repair via nonhomologous end joining GO:0006303 9.97 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
7 regulation of megakaryocyte differentiation GO:0045652 9.95 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
8 negative regulation of gene expression, epigenetic GO:0045814 9.93 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
9 CENP-A containing nucleosome assembly GO:0034080 9.91 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
10 DNA-templated transcription, initiation GO:0006352 9.88 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
11 DNA replication-dependent nucleosome assembly GO:0006335 9.85 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
12 telomere organization GO:0032200 9.8 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
13 negative regulation of G0 to G1 transition GO:0070317 9.74 EHMT2 CBX5 CBX3
14 histone lysine methylation GO:0034968 9.73 SUV39H1 SETDB1 EHMT2
15 telomere capping GO:0016233 9.73 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
16 DNA replication-independent nucleosome assembly GO:0006336 9.63 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
17 negative regulation of single stranded viral RNA replication via double stranded DNA intermediate GO:0045869 9.59 TRIM28 SETDB1
18 positive regulation of methylation-dependent chromatin silencing GO:0090309 9.58 TRIM28 SETDB1
19 histone H3-K9 methylation GO:0051567 9.58 SETDB1 EHMT2
20 negative regulation of megakaryocyte differentiation GO:0045653 9.43 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
21 chromatin silencing at rDNA GO:0000183 9.17 SUV39H1 H4C14 H4C13 H4C12 H4C11 H4C1

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 10 TRIM28 H4C14 H4C13 H4C12 H4C11 H4C1
2 chromatin binding GO:0003682 9.8 TRIM28 SUV39H1 SETDB1 KDM4C CBX5 CBX1
3 DNA binding GO:0003677 9.77 ZNF23 TRIM28 SETDB1 IRF4 H4C14 H4C13
4 protein domain specific binding GO:0019904 9.7 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
5 promoter-specific chromatin binding GO:1990841 9.58 TRIM28 SETDB1 EHMT2
6 histone-lysine N-methyltransferase activity GO:0018024 9.54 SUV39H1 SETDB1 EHMT2
7 histone methyltransferase binding GO:1990226 9.43 CBX3 CBX1
8 histone methyltransferase activity (H3-K9 specific) GO:0046974 9.43 SUV39H1 SETDB1 EHMT2
9 protein heterodimerization activity GO:0046982 9.28 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16

Sources for Hyperoxaluria, Primary, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....