HP3
MCID: HYP603
MIFTS: 50

Hyperoxaluria, Primary, Type Iii (HP3)

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

Aliases & Classifications for Hyperoxaluria, Primary, Type Iii

MalaCards integrated aliases for Hyperoxaluria, Primary, Type Iii:

Name: Hyperoxaluria, Primary, Type Iii 57 13 39 70
Primary Hyperoxaluria Type 3 12 25 20 58 15
Hp3 57 12 72
Primary Hyperoxaluria, Type Iii 29 6
Ph Iii 12 20
Hyperoxaluria Non-Ph I/ph Ii Form 72
Primary Hyperoxaluria Type Iii 12
Hyperoxaluria Primary Type Iii 72
Hyperoxaluria Non-Hp1/non-Hp2 72
Hyperoxaluria Primary 3 72

Characteristics:

Orphanet epidemiological data:

58
primary hyperoxaluria type 3
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of urolithiasis in infancy


HPO:

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


Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111672
OMIM® 57 613616
OMIM Phenotypic Series 57 PS259900
MeSH 44 D006960
NCIt 50 C123214
SNOMED-CT 67 734990008
ICD10 via Orphanet 33 E74.8
Orphanet 58 ORPHA93600
MedGen 41 C3150878
UMLS 70 C3150878

Summaries for Hyperoxaluria, Primary, Type Iii

OMIM® : 57 Primary hyperoxaluria is an autosomal recessive disorder of glyoxylate metabolism that results in excessive endogenous oxalate synthesis and the formation of calcium oxalate kidney stones. Progressive renal inflammation and interstitial fibrosis from advanced nephrocalcinosis, recurrent urolithiasis, and urinary tract infections can cause reduced renal function, systemic oxalate deposition, and end-stage renal failure. Compared to hyperoxaluria type I (HP1; 259900) and type II (HP2; 260000), HP3 appears to be the least severe, with good preservation of kidney function in most patients. The typical clinical characteristic is early onset of recurrent urolithiasis, but less active stone formation later (summary by Wang et al., 2015). For a discussion of genetic heterogeneity of primary hyperoxaluria, see 259900. (613616) (Updated 20-May-2021)

MalaCards based summary : Hyperoxaluria, Primary, Type Iii, also known as primary hyperoxaluria type 3, is related to primary hyperoxaluria and aortic valve prolapse. An important gene associated with Hyperoxaluria, Primary, Type Iii is HOGA1 (4-Hydroxy-2-Oxoglutarate Aldolase 1), and among its related pathways/superpathways are ATP/ITP metabolism and PERK regulates gene expression. The drugs Guaifenesin and Mupirocin have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and pancreas, and related phenotypes are hematuria and nephrocalcinosis

Disease Ontology : 12 A primary hyperoxaluria characterized by recurring calcium oxalate stones that has material basis in homozygous or compound heterozygous mutation in HOGA1 on chromosome 10q24.2.

UniProtKB/Swiss-Prot : 72 Hyperoxaluria primary 3: A disorder phenotypically similar to hyperoxaluria type 1 and type 2. It is characterized by increase in urinary oxalate excretion and mild glycolic aciduria. Clinical manifestations include calcium oxalate urolithiasis, hematuria, pain, and/or urinary tract infection.

GeneReviews: NBK316514

Related Diseases for Hyperoxaluria, Primary, Type Iii

Diseases in the Primary Hyperoxaluria family:

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

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 primary hyperoxaluria 32.1 HOGA1 GRHPR EXOSC9 AGXT
2 aortic valve prolapse 10.3 EXOSC9 EXOSC8
3 urolithiasis 10.3
4 urinary tract infection 10.3
5 nephrocalcinosis 10.3
6 urethral calculus 10.3 HOGA1 GRHPR
7 x-linked nephrolithiasis type i 10.2 EXOSC9 EXOSC8 EXOSC1
8 pontocerebellar hypoplasia, type 1b 10.2 EXOSC9 EXOSC8 EXOSC1
9 pontocerebellar hypoplasia 10.2 EXOSC9 EXOSC8 EXOSC1
10 d-glyceric aciduria 10.2 GRHPR AGXT
11 spherocytosis, type 2 10.2 EXOSC9 EXOSC1
12 adenine phosphoribosyltransferase deficiency 10.2 HOGA1 GRHPR AGXT
13 autosomal recessive disease 10.2
14 nephrolithiasis 10.2
15 xanthinuria 10.2 HOGA1 GRHPR AGXT
16 nephrolithiasis, uric acid 10.2 HOGA1 GRHPR AGXT
17 gm1-gangliosidosis, type i 10.2 EXOSC9 EXOSC8
18 carbohydrate metabolic disorder 10.1 HOGA1 GRHPR AGXT
19 hermansky-pudlak syndrome 1 10.1
20 hermansky-pudlak syndrome 2 10.1
21 nephrolithiasis, calcium oxalate 10.0
22 acute cystitis 10.0
23 urinary tract obstruction 10.0
24 inherited metabolic disorder 10.0
25 choroid disease 10.0 OAT DCAF8
26 pelvic varices 10.0 PRM2 PRM1
27 sperm protamine p4 9.9
28 hyperglycemia 9.9
29 pustulosis of palm and sole 9.9
30 psoriasis 9.9
31 cystinuria 9.9 OAT HOGA1 GRHPR AGXT
32 oligoasthenoteratozoospermia 9.8 PRM2 PRM1
33 hyperoxaluria, primary, type ii 9.4 PRM2 GRHPR EXOSC9 EXOSC8 EXOSC1 DET1

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



Diseases related to Hyperoxaluria, Primary, Type Iii

Symptoms & Phenotypes for Hyperoxaluria, Primary, Type Iii

Human phenotypes related to Hyperoxaluria, Primary, Type Iii:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hematuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000790
2 nephrocalcinosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000121
3 dysuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0100518
4 pollakisuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0100515
5 pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0012531
6 calcium oxalate nephrolithiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008672
7 hyperoxaluria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003159
8 abnormality of urine homeostasis 58 Very frequent (99-80%)
9 abnormal renal physiology 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
hematuria
nephrocalcinosis
nephrolithiasis
urolithiasis
end-stage renal disease (in some patients)
more
Genitourinary Bladder:
urinary tract infections
urethral calculi

Laboratory Abnormalities:
hyperoxaluria
hypercalciuria (in some patients)
glycolic aciduria, mild (in some patients)
hyperuricosuria (in some patients)
elevated plasma oxalate

Genitourinary Ureters:
ureteral calculi

Clinical features from OMIM®:

613616 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased S length, increased G2 length GR00237-A 8.32 DDB1

Drugs & Therapeutics for Hyperoxaluria, Primary, Type Iii

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
2
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
3
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 3 14838-15-4 26934
4
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
5
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
6
Gefitinib Approved, Investigational Phase 3 184475-35-2 123631
7
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
8
Omalizumab Approved, Investigational Phase 3 242138-07-4
9
Gemcitabine Approved Phase 3 95058-81-4 60750
10
Pancrelipase Approved, Investigational Phase 3 53608-75-6
11
Fluorouracil Approved Phase 3 51-21-8 3385
12
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
13 Anti-Bacterial Agents Phase 3
14 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
15 Tubulin Modulators Phase 3
16 Antimitotic Agents Phase 3
17 Albumin-Bound Paclitaxel Phase 3
18 Respiratory System Agents Phase 3
19 Anti-Asthmatic Agents Phase 3
20 Anti-Allergic Agents Phase 3
21 Anti-Infective Agents Phase 3
22 pancreatin Phase 3
23 Immunosuppressive Agents Phase 3
24
Erlotinib Hydrochloride Phase 3 183319-69-9 176871
25 Protein Kinase Inhibitors Phase 3
26 Immunologic Factors Phase 3
27 Antiviral Agents Phase 3
28 Antimetabolites Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ph-III Randomized, Multicentric, Controlled , Non-inferiority Trial to Evaluate the Safety and Efficacy of Mupirocin Gel 20 mg/g Versus Mupirocin Ointment 20 mg/g and Placebo in the Treatment of Impetigo in Paediatric Population Completed NCT04287777 Phase 3 Mupirocin gel;Mupirocin ointment;Placebo
2 Ph III Random Trial of 120-Min Infusion Gemcitabine v. 90-Min Infusion Gemcitabine + Docetaxel in Unresectable Soft Tissue Sarcoma: A Multi-Disciplinary Trial of the North Amer. Sarcoma Study Group of the Connective Tissue Oncology Society Completed NCT00142571 Phase 3 Gemcitabine;Docetaxel
3 Open Label, Randomised, Parallel Group, Multicentre, Ph III Study To Assess Efficacy, Safety & Tolerability Of Gefitinib (IRESSA™) Versus Carboplatin/Paclitaxel DC As 1st-Line Treatment In Selected Patients With Stage IIIB / IV NSCLC In Asia Completed NCT00322452 Phase 3 Gefitinib;Carboplatin;Paclitaxel
4 Ph III, 28-wk, Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel-group Study to Assess Efficacy, Safety, Tolerability of SC Omalizumab in Adults and Adolescents w/ Severe Persist. Allergic Asthma & Are Inadequately Controlled Despite GINA (2002) Step 4 Tx Completed NCT00046748 Phase 3 Omalizumab
5 A Phase II-R and a Phase III Trial Evaluating Both Erlotinib (Ph II-R) and Chemoradiation (Ph III) as Adjuvant Treatment for Patients With Resected Head of Pancreas Adenocarcinoma Active, not recruiting NCT01013649 Phase 3 Capecitabine;Chemotherapy;Erlotinib Hydrochloride;Fluorouracil;Gemcitabine Hydrochloride
6 30-d Rand, Eval-blind, Controlled, Multi-centre, Parallel, ph III Study to Evaluate Effect of a Low Maint Dose Ticagrelor Regimen vs Standard Dose Clopidogrel on Coronary Flow Reserve in DM Patients With Impaired Microvascular Function Without Prior MI or Stroke Undergoing ePCI. Withdrawn NCT04069234 Phase 3 Ticagrelor;Clopidogrel
7 A Phase 1 Placebo-Controlled, Double-Blind, Multicenter Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of a Single Dose of DCR-PHXC in Patients With Primary Hyperoxaluria Type 3 Not yet recruiting NCT04555486 Phase 1 DCR-PHXC;Sterile Normal Saline (0.9% NaCl)
8 A Natural History Study of Patients With Genetically Confirmed Primary Hyperoxaluria Type 3 With a History of Stone Events Not yet recruiting NCT04542590

Search NIH Clinical Center for Hyperoxaluria, Primary, Type Iii

Genetic Tests for Hyperoxaluria, Primary, Type Iii

Genetic tests related to Hyperoxaluria, Primary, Type Iii:

# Genetic test Affiliating Genes
1 Primary Hyperoxaluria, Type Iii 29 HOGA1

Anatomical Context for Hyperoxaluria, Primary, Type Iii

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

40
Kidney, Eye, Pancreas

Publications for Hyperoxaluria, Primary, Type Iii

Articles related to Hyperoxaluria, Primary, Type Iii:

(show all 50)
# Title Authors PMID Year
1
Renal function can be impaired in children with primary hyperoxaluria type 3. 25 57 6 61
25972204 2015
2
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. 25 57 6
21896830 2011
3
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3. 61 6 57
26340091 2015
4
4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. 61 25 6
22771891 2012
5
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. 61 6 25
22391140 2012
6
Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria. 6 25 61
21998747 2011
7
Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 57 6
20797690 2010
8
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 6 25
25644115 2015
9
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25 6
25629080 2015
10
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. 6 25
22781098 2013
11
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III. 6 25
22851625 2012
12
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients. 57 61
27561601 2017
13
Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3. 6 61
27096395 2016
14
4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3. 6 61
24563386 2015
15
Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III. 6
28711958 2017
16
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. 25
25296721 2015
17
Nephrocalcinosis is a risk factor for kidney failure in primary hyperoxaluria. 25
25229337 2015
18
Hereditary causes of kidney stones and chronic kidney disease. 25
23334384 2013
19
Primary hyperoxaluria. 25
23944302 2013
20
Primary hyperoxaluria type III--a model for studying perturbations in glyoxylate metabolism. 25
22729392 2012
21
Nephrocalcinosis and urolithiasis in children. 25
21956187 2011
22
Fat malabsorption and increased intestinal oxalate absorption are common after Roux-en-Y gastric bypass surgery. 25
21295813 2011
23
Primary hyperoxaluria. 25
21748001 2011
24
Clinical practice. Calcium kidney stones. 25
20818905 2010
25
Nephrocalcinosis in preterm neonates. 25
18797936 2010
26
The primary hyperoxalurias. 25
19225556 2009
27
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. 25
17460142 2007
28
Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1. 25
16850020 2006
29
Outcomes and complications of pregnancy in women with primary hyperoxaluria. 25
14750093 2004
30
The primary hyperoxalurias. 25
11518794 2001
31
Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed? 25
11477177 2001
32
Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1. 25
10737993 2000
33
Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria. 25
7969325 1994
34
Primary hyperoxaluria type I. 25
7987654 1994
35
Determination of oxalate excretion in spot urines of healthy children by ion chromatography. 25
8167190 1994
36
Urinary oxalate and glycolate excretion patterns in the first year of life: a longitudinal study. 25
8345420 1993
37
Urinary oxalate and glycolate excretion and plasma oxalate concentration. 25
2031609 1991
38
Urinary oxalate excretion by very low birth weight infants receiving parenteral nutrition. 25
2508054 1989
39
The variation of urinary oxalate excretion with age. 25
4891815 1969
40
Clinical characterization of primary hyperoxaluria type 3 in comparison to types 1 and 2: a retrospective cohort study. 61
33543760 2021
41
Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease. 61
33350326 2020
42
Regulation of human 4-hydroxy-2-oxoglutarate aldolase by pyruvate and α-ketoglutarate: implications for primary hyperoxaluria type-3. 61
31696211 2019
43
Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children. 61
31123811 2019
44
Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population. 61
31401635 2019
45
Metabolite diagnosis of primary hyperoxaluria type 3. 61
29705963 2018
46
Dihydrodipicolinate Synthase: Structure, Dynamics, Function, and Evolution. 61
28271480 2017
47
Hydroxyproline metabolism in a mouse model of Primary Hyperoxaluria Type 3. 61
26428388 2015
48
Primary Hyperoxaluria Type 3 61
26401545 2015
49
Primary and secondary hyperoxaluria: Understanding the enigma. 61
25949937 2015
50
Use of a novel microtitration protocol to obtain diffraction-quality crystals of 4-hydroxy-2-oxoglutarate aldolase from Bos taurus. 61
25372828 2014

Variations for Hyperoxaluria, Primary, Type Iii

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

6 (show top 50) (show all 148)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HOGA1 NM_138413.4(HOGA1):c.700+4G>T SNV Pathogenic 32 GRCh37: 10:99359924-99359924
GRCh38: 10:97600167-97600167
2 HOGA1 NM_138413.4(HOGA1):c.346C>T (p.Gln116Ter) SNV Pathogenic 204271 rs767405535 GRCh37: 10:99358851-99358851
GRCh38: 10:97599094-97599094
3 HOGA1 NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter) SNV Pathogenic 204276 rs796052086 GRCh37: 10:99361676-99361676
GRCh38: 10:97601919-97601919
4 HOGA1 NM_138413.4(HOGA1):c.533T>C (p.Leu178Pro) SNV Pathogenic 204282 rs796052090 GRCh37: 10:99359501-99359501
GRCh38: 10:97599744-97599744
5 HOGA1 NM_138413.4(HOGA1):c.700+5G>T SNV Pathogenic 204285 rs185803104 GRCh37: 10:99359925-99359925
GRCh38: 10:97600168-97600168
6 HOGA1 NM_138413.4(HOGA1):c.834G>A (p.Ala278=) SNV Pathogenic 204286 rs770050262 GRCh37: 10:99361747-99361747
GRCh38: 10:97601990-97601990
7 HOGA1 NM_138413.4(HOGA1):c.158del (p.Asp53fs) Deletion Pathogenic 204287 rs796052091 GRCh37: 10:99344618-99344618
GRCh38: 10:97584861-97584861
8 HOGA1 NM_138413.4(HOGA1):c.803_805del (p.Leu268del) Deletion Pathogenic 204288 rs796052092 GRCh37: 10:99361715-99361717
GRCh38: 10:97601958-97601960
9 HOGA1 NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter) SNV Pathogenic 204268 rs746419489 GRCh37: 10:99344577-99344577
GRCh38: 10:97584820-97584820
10 HOGA1 NM_138413.4(HOGA1):c.834_834+1delinsTT Indel Pathogenic 625169 rs1564760008 GRCh37: 10:99361747-99361748
GRCh38: 10:97601990-97601991
11 HOGA1 NM_138413.4(HOGA1):c.938_940AGG[2] (p.Glu315del) Microsatellite Pathogenic 29 rs397509360 GRCh37: 10:99371369-99371371
GRCh38: 10:97611612-97611614
12 HOGA1 NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro) SNV Pathogenic 33 rs267606763 GRCh37: 10:99344669-99344669
GRCh38: 10:97584912-97584912
13 HOGA1 NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) SNV Pathogenic 34 rs267606764 GRCh37: 10:99361682-99361682
GRCh38: 10:97601925-97601925
14 HOGA1 NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) SNV Pathogenic 204266 rs764396564 GRCh37: 10:99344594-99344594
GRCh38: 10:97584837-97584837
15 HOGA1 NM_138413.4(HOGA1):c.728C>A (p.Ala243Asp) SNV Pathogenic 204274 rs796052085 GRCh37: 10:99361641-99361641
GRCh38: 10:97601884-97601884
16 HOGA1 NM_138413.4(HOGA1):c.733G>A (p.Val245Ile) SNV Pathogenic 204275 rs755562733 GRCh37: 10:99361646-99361646
GRCh38: 10:97601889-97601889
17 HOGA1 NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile) SNV Pathogenic 204277 rs756489804 GRCh37: 10:99371271-99371271
GRCh38: 10:97611514-97611514
18 HOGA1 NM_138413.4(HOGA1):c.875T>C (p.Met292Thr) SNV Pathogenic 204278 rs796052087 GRCh37: 10:99371307-99371307
GRCh38: 10:97611550-97611550
19 HOGA1 NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys) SNV Pathogenic 204279 rs149150736 GRCh37: 10:99371339-99371339
GRCh38: 10:97611582-97611582
20 HOGA1 NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp) SNV Pathogenic 204280 rs796052088 GRCh37: 10:99358547-99358547
GRCh38: 10:97598790-97598790
21 HOGA1 NM_138413.4(HOGA1):c.308A>T (p.Asn103Ile) SNV Pathogenic 204281 rs796052089 GRCh37: 10:99358628-99358628
GRCh38: 10:97598871-97598871
22 HOGA1 NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser) SNV Pathogenic 204284 rs777046879 GRCh37: 10:99371405-99371405
GRCh38: 10:97611648-97611648
23 HOGA1 NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) SNV Pathogenic/Likely pathogenic 204273 rs202047589 GRCh37: 10:99359537-99359537
GRCh38: 10:97599780-97599780
24 HOGA1 NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) SNV Pathogenic/Likely pathogenic 30 rs138207257 GRCh37: 10:99371292-99371292
GRCh38: 10:97611535-97611535
25 HOGA1 NM_138413.4(HOGA1):c.341-1G>A SNV Likely pathogenic 556163 rs1554874130 GRCh37: 10:99358845-99358845
GRCh38: 10:97599088-97599088
26 HOGA1 NM_138413.4(HOGA1):c.448del (p.Leu150fs) Deletion Likely pathogenic 556221 rs746776892 GRCh37: 10:99358951-99358951
GRCh38: 10:97599194-97599194
27 HOGA1 NM_138413.4(HOGA1):c.404del (p.Val135fs) Deletion Likely pathogenic 556665 rs1554874148 GRCh37: 10:99358909-99358909
GRCh38: 10:97599152-97599152
28 HOGA1 NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) Insertion Likely pathogenic 593936 rs924232072 GRCh37: 10:99344466-99344467
GRCh38: 10:97584709-97584710
29 HOGA1 NM_138413.4(HOGA1):c.122dup (p.Val42fs) Duplication Likely pathogenic 558178 rs1425736036 GRCh37: 10:99344576-99344577
GRCh38: 10:97584819-97584820
30 HOGA1 NM_138413.4(HOGA1):c.701-2A>G SNV Likely pathogenic 558448 rs776817346 GRCh37: 10:99361612-99361612
GRCh38: 10:97601855-97601855
31 HOGA1 NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) SNV Likely pathogenic 204265 rs201803986 GRCh37: 10:99344567-99344567
GRCh38: 10:97584810-97584810
32 HOGA1 NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) Deletion Likely pathogenic 522533 rs1419840309 GRCh37: 10:99344583-99344583
GRCh38: 10:97584826-97584826
33 HOGA1 NM_138413.4(HOGA1):c.834+1G>T SNV Likely pathogenic 632144 rs749315029 GRCh37: 10:99361748-99361748
GRCh38: 10:97601991-97601991
34 HOGA1 NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg) SNV Likely pathogenic 397590 rs200529020 GRCh37: 10:99358651-99358651
GRCh38: 10:97598894-97598894
35 HOGA1 NM_138413.4(HOGA1):c.834+1G>A SNV Likely pathogenic 551579 rs749315029 GRCh37: 10:99361748-99361748
GRCh38: 10:97601991-97601991
36 HOGA1 NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter) SNV Likely pathogenic 551622 rs752277936 GRCh37: 10:99361709-99361709
GRCh38: 10:97601952-97601952
37 HOGA1 NM_138413.4(HOGA1):c.413del (p.Pro138fs) Deletion Likely pathogenic 551923 rs777683624 GRCh37: 10:99358915-99358915
GRCh38: 10:97599158-97599158
38 HOGA1 NM_138413.4(HOGA1):c.700+2T>G SNV Likely pathogenic 554760 rs990830655 GRCh37: 10:99359922-99359922
GRCh38: 10:97600165-97600165
39 HOGA1 NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) SNV Conflicting interpretations of pathogenicity 204269 rs758304537 GRCh37: 10:99344668-99344668
GRCh38: 10:97584911-97584911
40 HOGA1 NM_138413.4(HOGA1):c.*186C>T SNV Uncertain significance 301801 rs576078709 GRCh37: 10:99371602-99371602
GRCh38: 10:97611845-97611845
41 HOGA1 NM_138413.4(HOGA1):c.*288A>C SNV Uncertain significance 301803 rs886047520 GRCh37: 10:99371704-99371704
GRCh38: 10:97611947-97611947
42 HOGA1 NM_138413.4(HOGA1):c.*292C>T SNV Uncertain significance 301806 rs771988623 GRCh37: 10:99371708-99371708
GRCh38: 10:97611951-97611951
43 HOGA1 NM_138413.4(HOGA1):c.*850G>T SNV Uncertain significance 301823 rs560555907 GRCh37: 10:99372266-99372266
GRCh38: 10:97612509-97612509
44 HOGA1 NM_138413.4(HOGA1):c.700+9C>T SNV Uncertain significance 301793 rs375091787 GRCh37: 10:99359929-99359929
GRCh38: 10:97600172-97600172
45 HOGA1 NM_138413.4(HOGA1):c.*425T>C SNV Uncertain significance 301815 rs189957405 GRCh37: 10:99371841-99371841
GRCh38: 10:97612084-97612084
46 HOGA1 NM_138413.4(HOGA1):c.*950G>A SNV Uncertain significance 301824 rs190392004 GRCh37: 10:99372366-99372366
GRCh38: 10:97612609-97612609
47 HOGA1 NM_138413.4(HOGA1):c.*289C>T SNV Uncertain significance 301804 rs540860054 GRCh37: 10:99371705-99371705
GRCh38: 10:97611948-97611948
48 HOGA1 NM_138413.4(HOGA1):c.*352T>C SNV Uncertain significance 301810 rs545072905 GRCh37: 10:99371768-99371768
GRCh38: 10:97612011-97612011
49 HOGA1 NM_138413.4(HOGA1):c.828C>T (p.Asn276=) SNV Uncertain significance 301797 rs201683794 GRCh37: 10:99361741-99361741
GRCh38: 10:97601984-97601984
50 HOGA1 NM_138413.4(HOGA1):c.*1059A>C SNV Uncertain significance 301826 rs886047524 GRCh37: 10:99372475-99372475
GRCh38: 10:97612718-97612718

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

72
# Symbol AA change Variation ID SNP ID
1 HOGA1 p.Cys257Gly VAR_064035 rs267606764
2 HOGA1 p.Gly287Val VAR_064036 rs138207257

Expression for Hyperoxaluria, Primary, Type Iii

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

Pathways for Hyperoxaluria, Primary, Type Iii

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

# Super pathways Score Top Affiliating Genes
1 11.26 EXOSC9 EXOSC8 EXOSC1
2
Show member pathways
10.89 EXOSC9 EXOSC8 EXOSC1
3 10.28 HOGA1 GRHPR AGXT

GO Terms for Hyperoxaluria, Primary, Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.03 PRM2 PRM1 PPP1R8 PKNOX2 PHC3 OAT
2 cullin-RING ubiquitin ligase complex GO:0031461 9.4 DET1 DDB1
3 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.37 DET1 DDB1
4 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.33 DET1 DDB1 DCAF8
5 cytoplasmic exosome (RNase complex) GO:0000177 9.32 EXOSC9 EXOSC8
6 exosome (RNase complex) GO:0000178 9.13 EXOSC9 EXOSC8 EXOSC1
7 nuclear exosome (RNase complex) GO:0000176 8.8 EXOSC9 EXOSC8 EXOSC1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.77 EXOSC9 EXOSC8 EXOSC1
2 regulation of mRNA stability GO:0043488 9.74 EXOSC9 EXOSC8 EXOSC1
3 chromosome condensation GO:0030261 9.58 PRM2 PRM1
4 RNA catabolic process GO:0006401 9.58 PPP1R8 EXOSC8
5 rRNA catabolic process GO:0016075 9.56 EXOSC9 EXOSC8
6 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' GO:0034427 9.55 EXOSC9 EXOSC8
7 nuclear mRNA surveillance GO:0071028 9.54 EXOSC9 EXOSC8
8 cellular nitrogen compound metabolic process GO:0034641 9.52 GRHPR AGXT
9 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000467 9.51 EXOSC9 EXOSC8
10 U4 snRNA 3'-end processing GO:0034475 9.49 EXOSC9 EXOSC8
11 nuclear polyadenylation-dependent tRNA catabolic process GO:0071038 9.48 EXOSC9 EXOSC8
12 nuclear polyadenylation-dependent rRNA catabolic process GO:0071035 9.46 EXOSC9 EXOSC8
13 pyruvate biosynthetic process GO:0042866 9.43 HOGA1 AGXT
14 DNA packaging GO:0006323 9.4 PRM2 PRM1
15 nuclear polyadenylation-dependent mRNA catabolic process GO:0071042 9.37 EXOSC9 EXOSC8
16 U5 snRNA 3'-end processing GO:0034476 9.32 EXOSC9 EXOSC8
17 U1 snRNA 3'-end processing GO:0034473 9.26 EXOSC9 EXOSC8
18 glyoxylate catabolic process GO:0009436 9.16 HOGA1 AGXT
19 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.13 EXOSC9 EXOSC8 EXOSC1
20 glyoxylate metabolic process GO:0046487 8.8 HOGA1 GRHPR AGXT

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

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR AU-rich region binding GO:0035925 9.16 EXOSC9 EXOSC8
2 transaminase activity GO:0008483 8.96 OAT AGXT
3 exoribonuclease activity GO:0004532 8.8 EXOSC9 EXOSC8 EXOSC1

Sources for Hyperoxaluria, Primary, Type Iii

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....