MCID: HYP603
MIFTS: 30

Hyperoxaluria, Primary, Type Iii

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

Aliases & Classifications for Hyperoxaluria, Primary, Type Iii

MalaCards integrated aliases for Hyperoxaluria, Primary, Type Iii:

Name: Hyperoxaluria, Primary, Type Iii 57 13 40 73
Primary Hyperoxaluria Type 3 24 53 59
Primary Hyperoxaluria, Type Iii 29 6
Hp3 57 75
Hyperoxaluria Non-Ph I/ph Ii Form 75
Hyperoxaluria Primary Type Iii 75
Hyperoxaluria Non-Hp1/non-Hp2 75
Hyperoxaluria Primary 3 75
Ph Iii 53

Characteristics:

Orphanet epidemiological data:

59
primary hyperoxaluria type 3
Inheritance: Autosomal recessive;

HPO:

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


Classifications:



External Ids:

OMIM 57 613616
Orphanet 59 ORPHA93600
ICD10 via Orphanet 34 E74.8
MedGen 42 C3150878
MeSH 44 D006960
UMLS 73 C3150878

Summaries for Hyperoxaluria, Primary, Type Iii

UniProtKB/Swiss-Prot : 75 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.

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

Description from OMIM: 613616
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 10.4

Symptoms & Phenotypes for Hyperoxaluria, Primary, Type Iii

Clinical features from OMIM:

613616

Human phenotypes related to Hyperoxaluria, Primary, Type Iii:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrocalcinosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000121
2 hematuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000790
3 hyperoxaluria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003159
4 calcium oxalate nephrolithiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008672
5 pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0012531
6 pollakisuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0100515
7 dysuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0100518
8 abnormality of urine homeostasis 59 Very frequent (99-80%)
9 abnormal renal physiology 59 Very frequent (99-80%)

Drugs & Therapeutics for Hyperoxaluria, Primary, Type Iii

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aluminum sulfate Approved Phase 1 10043-01-3
2 Vaccines Phase 1
3
Citric Acid Approved, Nutraceutical, Vet_approved Not Applicable 77-92-9 311
4 Adrenergic Agents Not Applicable
5 Adrenergic Agonists Not Applicable
6 Adrenergic beta-2 Receptor Agonists Not Applicable
7 Adrenergic beta-Agonists Not Applicable
8 Anti-Asthmatic Agents Not Applicable
9 Autonomic Agents Not Applicable
10 Bronchodilator Agents Not Applicable
11 Formoterol Fumarate Not Applicable
12 Neurotransmitter Agents Not Applicable
13 Peripheral Nervous System Agents Not Applicable
14 Pharmaceutical Solutions Not Applicable
15 Respiratory System Agents Not Applicable
16 Xenon Early Phase 1
17 Citrate Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Immunogenicity of Chiron's Investigational H. Pylori Vaccine in Healthy Adults Completed NCT00613665 Phase 1
2 Assessment of Arformoterol for Chronic Obstructive Pulmonary Disease (COPD) Using Hyperpolarized 3He MRI Completed NCT00846287 Not Applicable Hyperpolarized Helium-3;Placebo;Aformoterol
3 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
4 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
5 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 29 HOGA1

Anatomical Context for Hyperoxaluria, Primary, Type Iii

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

41
Lung, Kidney

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
Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3. ( 27096395 )
2016
3
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients. ( 27561601 )
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 )
2014
8
4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. ( 22771891 )
2012
9
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. ( 22391140 )
2012
10
Primary Hyperoxaluria Type 3 ( 26401545 )
1993

Variations for Hyperoxaluria, Primary, Type Iii

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

75
# 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 87)
# 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 Pathogenic rs138207257 GRCh37 Chromosome 10, 99371292: 99371292
4 HOGA1 NM_138413.3(HOGA1): c.860G> T (p.Gly287Val) single nucleotide variant Pathogenic rs138207257 GRCh38 Chromosome 10, 97611535: 97611535
5 HOGA1 NM_138413.3(HOGA1): c.289C> T (p.Arg97Cys) single nucleotide variant Pathogenic rs267606762 GRCh37 Chromosome 10, 99358609: 99358609
6 HOGA1 NM_138413.3(HOGA1): c.289C> T (p.Arg97Cys) single nucleotide variant Pathogenic 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 Pathogenic rs796052084 GRCh38 Chromosome 10, 97598784: 97598784
23 HOGA1 NM_138413.3(HOGA1): c.221T> G (p.Val74Gly) single nucleotide variant Pathogenic 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 Pathogenic rs150702945 GRCh38 Chromosome 10, 97598900: 97598900
29 HOGA1 NM_138413.3(HOGA1): c.337G> A (p.Glu113Lys) single nucleotide variant Pathogenic 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 Pathogenic rs777601935 GRCh38 Chromosome 10, 97599740: 97599740
43 HOGA1 NM_138413.3(HOGA1): c.529G> T (p.Asp177Tyr) single nucleotide variant Pathogenic 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 Pathogenic rs374327791 GRCh38 Chromosome 10, 97599746: 97599746
47 HOGA1 NM_138413.3(HOGA1): c.535C> A (p.Pro179Thr) single nucleotide variant Pathogenic 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

Sources for Hyperoxaluria, Primary, Type Iii

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