HP3
MCID: HYP603
MIFTS: 33

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 58 13 41 74
Primary Hyperoxaluria Type 3 25 54 60
Primary Hyperoxaluria, Type Iii 30 6
Hp3 58 76
Hyperoxaluria Non-Ph I/ph Ii Form 76
Hyperoxaluria Primary Type Iii 76
Hyperoxaluria Non-Hp1/non-Hp2 76
Hyperoxaluria Primary 3 76
Ph Iii 54

Characteristics:

Orphanet epidemiological data:

60
primary hyperoxaluria type 3
Inheritance: Autosomal recessive;

HPO:

33
hyperoxaluria, primary, type iii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613616
MeSH 45 D006960
ICD10 via Orphanet 35 E74.8
Orphanet 60 ORPHA93600
MedGen 43 C3150878
UMLS 74 C3150878

Summaries for Hyperoxaluria, Primary, Type Iii

OMIM : 58 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 HP1 (259900). (613616)

MalaCards based summary : Hyperoxaluria, Primary, Type Iii, also known as primary hyperoxaluria type 3, is related to primary hyperoxaluria and hermansky-pudlak syndrome 1. An important gene associated with Hyperoxaluria, Primary, Type Iii is HOGA1 (4-Hydroxy-2-Oxoglutarate Aldolase 1). The drugs Gefitinib and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and prostate, and related phenotypes are hematuria and pain

UniProtKB/Swiss-Prot : 76 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:

# Related Disease Score Top Affiliating Genes
1 primary hyperoxaluria 10.5
2 hermansky-pudlak syndrome 1 10.1
3 hermansky-pudlak syndrome 2 10.1

Symptoms & Phenotypes for Hyperoxaluria, Primary, Type Iii

Human phenotypes related to Hyperoxaluria, Primary, Type Iii:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hematuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0000790
2 pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0012531
3 nephrocalcinosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000121
4 pollakisuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0100515
5 dysuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0100518
6 hyperoxaluria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003159
7 calcium oxalate nephrolithiasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008672
8 abnormal renal physiology 60 Very frequent (99-80%)
9 abnormality of urine homeostasis 60 Very frequent (99-80%)

Clinical features from OMIM:

613616

Drugs & Therapeutics for Hyperoxaluria, Primary, Type Iii

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

(show top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gefitinib Approved, Investigational Phase 3 184475-35-2 123631
2
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
3
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
4
Omalizumab Approved, Investigational Phase 3 242138-07-4
5
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
6
Gemcitabine Approved Phase 3 95058-81-4 60750
7
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
9
Elotuzumab Approved Phase 3 915296-00-3
10
Lenalidomide Approved Phase 3 191732-72-6 216326
11
Fluorouracil Approved Phase 3 51-21-8 3385
12
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
13
Pancrelipase Approved, Investigational Phase 3 53608-75-6
14 Xenon Experimental Phase 3,Early Phase 1 7440-63-3
15 Protein Kinase Inhibitors Phase 3
16 Albumin-Bound Paclitaxel Phase 3
17 Antimitotic Agents Phase 3
18 Antineoplastic Agents, Phytogenic Phase 3
19 Respiratory System Agents Phase 3,Not Applicable
20 Anti-Allergic Agents Phase 3
21 Anti-Asthmatic Agents Phase 3,Not Applicable
22 Antiviral Agents Phase 3
23 Antimetabolites, Antineoplastic Phase 3
24 Immunologic Factors Phase 3,Phase 1
25 Anti-Infective Agents Phase 3
26 Antimetabolites Phase 3
27 Immunosuppressive Agents Phase 3
28 Autonomic Agents Phase 3,Not Applicable
29 Pharmaceutical Solutions Phase 3,Not Applicable
30 Peripheral Nervous System Agents Phase 3,Not Applicable
31 Central Nervous System Depressants Phase 3
32 Anesthetics Phase 3
33 Anesthetics, General Phase 3
34 Anesthetics, Inhalation Phase 3
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
36 Hormone Antagonists Phase 3,Phase 2
37 Gastrointestinal Agents Phase 3
38 Anti-Inflammatory Agents Phase 3
39 HIV Protease Inhibitors Phase 3
40 Antiemetics Phase 3
41 glucocorticoids Phase 3
42 Hormones Phase 3,Phase 2
43 Angiogenesis Modulating Agents Phase 3
44 Antineoplastic Agents, Hormonal Phase 3
45 Angiogenesis Inhibitors Phase 3
46 BB 1101 Phase 3
47
protease inhibitors Phase 3
48 pancreatin Phase 3
49
Erlotinib Hydrochloride Phase 3 183319-69-9 176871
50 Androgens Phase 2

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 First Line IRESSA™ Versus Carboplatin/Paclitaxel in Asia Completed NCT00322452 Phase 3 Gefitinib;Carboplatin;Paclitaxel
2 Efficacy and Safety of Omalizumab in Patients With Severe Persistent Asthma Completed NCT00046748 Phase 3 Omalizumab
3 Comparison of Gemcitabine v. Gemcitabine Plus Docetaxel in Unresectable Soft Tissue Sarcoma Completed NCT00142571 Phase 3 Gemcitabine;Docetaxel
4 Xenon for Neuroprotection During Post-Cardiac Arrest Syndrome in Comatose Survivors of an Out of Hospital Cardiac Arrest Recruiting NCT03176186 Phase 3
5 PH III Study of Lenalidomide and Dexamethasone With or Without Elotuzumab to Treat Previously Untreated Multiple Myeloma (ELO 1 Substudy) Active, not recruiting NCT01891643 Phase 3 Lenalidomide;Dexamethasone
6 Gemcitabine Hydrochloride With or Without Erlotinib Hydrochloride Followed by the Same Chemotherapy Regimen With or Without Radiation Therapy and Capecitabine or Fluorouracil in Treating Patients With Pancreatic Cancer That Has Been Removed by Surgery Active, not recruiting NCT01013649 Phase 3 Capecitabine;Chemotherapy;Erlotinib Hydrochloride;Fluorouracil;Gemcitabine Hydrochloride
7 the Safety and Tolerability of Proxalutamide (GT0918) in Subjects With Metastatic Castrate Resistant Prostate Cancer Not yet recruiting NCT03899467 Phase 2 GT0918
8 Safety and Immunogenicity of Chiron's Investigational H. Pylori Vaccine in Healthy Adults Completed NCT00613665 Phase 1
9 Assessment of Arformoterol for Chronic Obstructive Pulmonary Disease (COPD) Using Hyperpolarized 3He MRI Completed NCT00846287 Not Applicable Hyperpolarized Helium-3;Placebo;Aformoterol
10 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
11 Developing Optimal Parameters for Hyperpolarized Noble Gas and Inert Fluorinated Gas MRI of Lung Disorders Not yet recruiting NCT02748798 Early Phase 1 HP 3He;HP 129Xe;PFP;SF6
12 Hyperpolarized Noble Gas MR Imaging for Pulmonary Disorders Terminated NCT00846573 Not Applicable Hyperpolarized Helium-3

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 30 HOGA1

Anatomical Context for Hyperoxaluria, Primary, Type Iii

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

42
Kidney, Lung, Prostate, Eye

Publications for Hyperoxaluria, Primary, Type Iii

Articles related to Hyperoxaluria, Primary, Type Iii:

# Title Authors Year
1
Metabolite diagnosis of primary hyperoxaluria type 3. ( 29705963 )
2018
2
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients. ( 27561601 )
2017
3
Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3. ( 27096395 )
2016
4
Renal function can be impaired in children with primary hyperoxaluria type 3. ( 25972204 )
2015
5
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3. ( 26340091 )
2015
6
Hydroxyproline metabolism in a mouse model of Primary Hyperoxaluria Type 3. ( 26428388 )
2015
7
4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3. ( 24563386 )
2015
8
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. ( 22391140 )
2012
9
4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. ( 22771891 )
2012
10
Mutations in DHDPSL are responsible for primary hyperoxaluria type III. ( 20797690 )
2010

Variations for Hyperoxaluria, Primary, Type Iii

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

76
# Symbol AA change Variation ID SNP ID
1 HOGA1 p.Cys257Gly VAR_064035 rs267606764
2 HOGA1 p.Gly287Val VAR_064036 rs138207257

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

6 (show top 50) (show all 125)
# Gene Variation Type Significance SNP ID Assembly Location
1 HOGA1 NM_138413.3(HOGA1): c.944_946delAGG (p.Glu315del) deletion Pathogenic rs397509360 GRCh37 Chromosome 10, 99371376: 99371378
2 HOGA1 NM_138413.3(HOGA1): c.944_946delAGG (p.Glu315del) deletion Pathogenic rs397509360 GRCh38 Chromosome 10, 97611619: 97611621
3 HOGA1 NM_138413.3(HOGA1): c.860G> T (p.Gly287Val) single nucleotide variant Likely pathogenic rs138207257 GRCh37 Chromosome 10, 99371292: 99371292
4 HOGA1 NM_138413.3(HOGA1): c.860G> T (p.Gly287Val) single nucleotide variant Likely pathogenic rs138207257 GRCh38 Chromosome 10, 97611535: 97611535
5 HOGA1 NM_138413.3(HOGA1): c.289C> T (p.Arg97Cys) single nucleotide variant Uncertain significance rs267606762 GRCh37 Chromosome 10, 99358609: 99358609
6 HOGA1 NM_138413.3(HOGA1): c.289C> T (p.Arg97Cys) single nucleotide variant Uncertain significance rs267606762 GRCh38 Chromosome 10, 97598852: 97598852
7 HOGA1 HOGA1, IVS, G-T, +4 single nucleotide variant Pathogenic
8 HOGA1 NM_138413.3(HOGA1): c.209G> C (p.Arg70Pro) single nucleotide variant Pathogenic rs267606763 GRCh37 Chromosome 10, 99344669: 99344669
9 HOGA1 NM_138413.3(HOGA1): c.209G> C (p.Arg70Pro) single nucleotide variant Pathogenic rs267606763 GRCh38 Chromosome 10, 97584912: 97584912
10 HOGA1 NM_138413.3(HOGA1): c.769T> G (p.Cys257Gly) single nucleotide variant Pathogenic rs267606764 GRCh37 Chromosome 10, 99361682: 99361682
11 HOGA1 NM_138413.3(HOGA1): c.769T> G (p.Cys257Gly) single nucleotide variant Pathogenic rs267606764 GRCh38 Chromosome 10, 97601925: 97601925
12 HOGA1 NM_138413.3(HOGA1): c.107C> T (p.Ala36Val) single nucleotide variant Likely pathogenic rs201803986 GRCh38 Chromosome 10, 97584810: 97584810
13 HOGA1 NM_138413.3(HOGA1): c.107C> T (p.Ala36Val) single nucleotide variant Likely pathogenic rs201803986 GRCh37 Chromosome 10, 99344567: 99344567
14 HOGA1 NM_138413.3(HOGA1): c.117C> A (p.Tyr39Ter) single nucleotide variant Pathogenic rs746419489 GRCh38 Chromosome 10, 97584820: 97584820
15 HOGA1 NM_138413.3(HOGA1): c.117C> A (p.Tyr39Ter) single nucleotide variant Pathogenic rs746419489 GRCh37 Chromosome 10, 99344577: 99344577
16 HOGA1 NM_138413.3(HOGA1): c.134C> T (p.Pro45Leu) single nucleotide variant Pathogenic rs764396564 GRCh38 Chromosome 10, 97584837: 97584837
17 HOGA1 NM_138413.3(HOGA1): c.134C> T (p.Pro45Leu) single nucleotide variant Pathogenic rs764396564 GRCh37 Chromosome 10, 99344594: 99344594
18 HOGA1 NM_138413.3(HOGA1): c.208C> T (p.Arg70Ter) single nucleotide variant Pathogenic rs758304537 GRCh38 Chromosome 10, 97584911: 97584911
19 HOGA1 NM_138413.3(HOGA1): c.208C> T (p.Arg70Ter) single nucleotide variant Pathogenic rs758304537 GRCh37 Chromosome 10, 99344668: 99344668
20 HOGA1 NM_138413.3(HOGA1): c.212-21A> G single nucleotide variant Uncertain significance rs11817730 GRCh38 Chromosome 10, 97598754: 97598754
21 HOGA1 NM_138413.3(HOGA1): c.212-21A> G single nucleotide variant Uncertain significance rs11817730 GRCh37 Chromosome 10, 99358511: 99358511
22 HOGA1 NM_138413.3(HOGA1): c.221T> G (p.Val74Gly) single nucleotide variant Uncertain significance rs796052084 GRCh38 Chromosome 10, 97598784: 97598784
23 HOGA1 NM_138413.3(HOGA1): c.221T> G (p.Val74Gly) single nucleotide variant Uncertain significance rs796052084 GRCh37 Chromosome 10, 99358541: 99358541
24 HOGA1 NM_138413.3(HOGA1): c.227G> A (p.Gly76Asp) single nucleotide variant Pathogenic rs796052088 GRCh38 Chromosome 10, 97598790: 97598790
25 HOGA1 NM_138413.3(HOGA1): c.227G> A (p.Gly76Asp) single nucleotide variant Pathogenic rs796052088 GRCh37 Chromosome 10, 99358547: 99358547
26 HOGA1 NM_138413.3(HOGA1): c.308A> T (p.Asn103Ile) single nucleotide variant Pathogenic rs796052089 GRCh37 Chromosome 10, 99358628: 99358628
27 HOGA1 NM_138413.3(HOGA1): c.308A> T (p.Asn103Ile) single nucleotide variant Pathogenic rs796052089 GRCh38 Chromosome 10, 97598871: 97598871
28 HOGA1 NM_138413.3(HOGA1): c.337G> A (p.Glu113Lys) single nucleotide variant Uncertain significance rs150702945 GRCh38 Chromosome 10, 97598900: 97598900
29 HOGA1 NM_138413.3(HOGA1): c.337G> A (p.Glu113Lys) single nucleotide variant Uncertain significance rs150702945 GRCh37 Chromosome 10, 99358657: 99358657
30 HOGA1 NM_138413.3(HOGA1): c.341-82delA deletion Uncertain significance rs796052083 GRCh38 Chromosome 10, 97599007: 97599007
31 HOGA1 NM_138413.3(HOGA1): c.341-82delA deletion Uncertain significance rs796052083 GRCh37 Chromosome 10, 99358764: 99358764
32 HOGA1 NM_138413.3(HOGA1): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs767405535 GRCh38 Chromosome 10, 97599094: 97599094
33 HOGA1 NM_138413.3(HOGA1): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs767405535 GRCh37 Chromosome 10, 99358851: 99358851
34 HOGA1 NM_138413.3(HOGA1): c.396G> A (p.Ala132=) single nucleotide variant Likely benign rs41290456 GRCh38 Chromosome 10, 97599144: 97599144
35 HOGA1 NM_138413.3(HOGA1): c.396G> A (p.Ala132=) single nucleotide variant Likely benign rs41290456 GRCh37 Chromosome 10, 99358901: 99358901
36 HOGA1 NM_138413.3(HOGA1): c.469-31C> T single nucleotide variant Uncertain significance rs75929214 GRCh37 Chromosome 10, 99359406: 99359406
37 HOGA1 NM_138413.3(HOGA1): c.469-31C> T single nucleotide variant Uncertain significance rs75929214 GRCh38 Chromosome 10, 97599649: 97599649
38 HOGA1 NM_138413.3(HOGA1): c.469-25C> T single nucleotide variant Uncertain significance rs7078003 GRCh38 Chromosome 10, 97599655: 97599655
39 HOGA1 NM_138413.3(HOGA1): c.469-25C> T single nucleotide variant Uncertain significance rs7078003 GRCh37 Chromosome 10, 99359412: 99359412
40 HOGA1 NM_138413.3(HOGA1): c.469-13C> T single nucleotide variant Uncertain significance rs750664684 GRCh38 Chromosome 10, 97599667: 97599667
41 HOGA1 NM_138413.3(HOGA1): c.469-13C> T single nucleotide variant Uncertain significance rs750664684 GRCh37 Chromosome 10, 99359424: 99359424
42 HOGA1 NM_138413.3(HOGA1): c.529G> T (p.Asp177Tyr) single nucleotide variant Uncertain significance rs777601935 GRCh38 Chromosome 10, 97599740: 97599740
43 HOGA1 NM_138413.3(HOGA1): c.529G> T (p.Asp177Tyr) single nucleotide variant Uncertain significance rs777601935 GRCh37 Chromosome 10, 99359497: 99359497
44 HOGA1 NM_138413.3(HOGA1): c.533T> C (p.Leu178Pro) single nucleotide variant Pathogenic rs796052090 GRCh37 Chromosome 10, 99359501: 99359501
45 HOGA1 NM_138413.3(HOGA1): c.533T> C (p.Leu178Pro) single nucleotide variant Pathogenic rs796052090 GRCh38 Chromosome 10, 97599744: 97599744
46 HOGA1 NM_138413.3(HOGA1): c.535C> A (p.Pro179Thr) single nucleotide variant Uncertain significance rs374327791 GRCh38 Chromosome 10, 97599746: 97599746
47 HOGA1 NM_138413.3(HOGA1): c.535C> A (p.Pro179Thr) single nucleotide variant Uncertain significance rs374327791 GRCh37 Chromosome 10, 99359503: 99359503
48 HOGA1 NM_138413.3(HOGA1): c.569C> T (p.Pro190Leu) single nucleotide variant Pathogenic rs202047589 GRCh38 Chromosome 10, 97599780: 97599780
49 HOGA1 NM_138413.3(HOGA1): c.569C> T (p.Pro190Leu) single nucleotide variant Pathogenic rs202047589 GRCh37 Chromosome 10, 99359537: 99359537
50 HOGA1 NM_138413.3(HOGA1): c.700+5G> T single nucleotide variant Pathogenic rs185803104 GRCh38 Chromosome 10, 97600168: 97600168

Expression for Hyperoxaluria, Primary, Type Iii

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

Pathways for Hyperoxaluria, Primary, Type Iii

GO Terms for Hyperoxaluria, Primary, Type Iii

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