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 53 13 69
Primary Hyperoxaluria Type 3 23 49 55
Hp3 53 71
Hyperoxaluria Non-Ph I/ph Ii Form 71
Primary Hyperoxaluria, Type Iii 28
Hyperoxaluria Primary Type Iii 71
Hyperoxaluria Non-Hp1/non-Hp2 71
Hyperoxaluria Primary 3 71
Ph Iii 49

Characteristics:

Orphanet epidemiological data:

55
primary hyperoxaluria type 3
Inheritance: Autosomal recessive;

HPO:

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


Classifications:



External Ids:

OMIM 53 613616
Orphanet 55 ORPHA93600
ICD10 via Orphanet 33 E74.8
MedGen 39 C3150878
MeSH 41 D006960
UMLS 69 C3150878

Summaries for Hyperoxaluria, Primary, Type Iii

UniProtKB/Swiss-Prot : 71 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 and hermansky-pudlak syndrome 2, and has symptoms including pain, dysuria and hematuria. 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.

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 10.3
2 hermansky-pudlak syndrome 2 10.0

Symptoms & Phenotypes for Hyperoxaluria, Primary, Type Iii

Clinical features from OMIM:

613616

Human phenotypes related to Hyperoxaluria, Primary, Type Iii:

55 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0012531
2 dysuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0100518
3 hematuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0000790
4 nephrocalcinosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000121
5 pollakisuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0100515
6 calcium oxalate nephrolithiasis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008672
7 hyperoxaluria 55 31 hallmark (90%) Very frequent (99-80%) HP:0003159
8 abnormal renal physiology 55 Very frequent (99-80%)
9 abnormality of urine homeostasis 55 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 77-92-9 311
4 Adrenergic Agents
5 Adrenergic Agonists
6 Adrenergic beta-2 Receptor Agonists
7 Adrenergic beta-Agonists
8 Anti-Asthmatic Agents
9 Autonomic Agents
10 Bronchodilator Agents
11 Formoterol Fumarate
12 Neurotransmitter Agents
13 Peripheral Nervous System Agents
14 Pharmaceutical Solutions
15 Respiratory System Agents
16 Xenon Early Phase 1
17 Citrate Nutraceutical

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 Hyperpolarized Helium-3;Placebo;Aformoterol
3 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
4 Hyperpolarized Noble Gas MR Imaging for Pulmonary Disorders Terminated NCT00846573 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 28 HOGA1

Anatomical Context for Hyperoxaluria, Primary, Type Iii

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

38
Lung

Publications for Hyperoxaluria, Primary, Type Iii

Articles related to Hyperoxaluria, Primary, Type Iii:

# Title Authors Year
1
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients. ( 27561601 )
2016
2
Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3. ( 27096395 )
2016
3
Renal function can be impaired in children with primary hyperoxaluria type 3. ( 25972204 )
2015
4
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3. ( 26340091 )
2015
5
Hydroxyproline metabolism in a mouse model of Primary Hyperoxaluria Type 3. ( 26428388 )
2015
6
4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3. ( 24563386 )
2014
7
4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. ( 22771891 )
2012
8
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. ( 22391140 )
2012
9
Primary Hyperoxaluria Type 3 ( 26401545 )
1993

Variations for Hyperoxaluria, Primary, Type Iii

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

71
# 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 all 31)
# 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.860G> T (p.Gly287Val) single nucleotide variant Pathogenic rs138207257 GRCh37 Chromosome 10, 99371292: 99371292
3 HOGA1 NM_138413.3(HOGA1): c.289C> T (p.Arg97Cys) single nucleotide variant Pathogenic rs267606762 GRCh37 Chromosome 10, 99358609: 99358609
4 HOGA1 HOGA1, IVS, G-T, +4 single nucleotide variant Pathogenic
5 HOGA1 NM_138413.3(HOGA1): c.209G> C (p.Arg70Pro) single nucleotide variant Pathogenic rs267606763 GRCh37 Chromosome 10, 99344669: 99344669
6 HOGA1 NM_138413.3(HOGA1): c.769T> G (p.Cys257Gly) single nucleotide variant Pathogenic rs267606764 GRCh37 Chromosome 10, 99361682: 99361682
7 HOGA1 NM_138413.3(HOGA1): c.107C> T (p.Ala36Val) single nucleotide variant Pathogenic/Likely pathogenic rs201803986 GRCh38 Chromosome 10, 97584810: 97584810
8 HOGA1 NM_138413.3(HOGA1): c.117C> A (p.Tyr39Ter) single nucleotide variant Pathogenic rs746419489 GRCh38 Chromosome 10, 97584820: 97584820
9 HOGA1 NM_138413.3(HOGA1): c.134C> T (p.Pro45Leu) single nucleotide variant Pathogenic rs764396564 GRCh38 Chromosome 10, 97584837: 97584837
10 HOGA1 NM_138413.3(HOGA1): c.208C> T (p.Arg70Ter) single nucleotide variant Pathogenic rs758304537 GRCh38 Chromosome 10, 97584911: 97584911
11 HOGA1 NM_138413.3(HOGA1): c.221T> G (p.Val74Gly) single nucleotide variant Pathogenic rs796052084 GRCh38 Chromosome 10, 97598784: 97598784
12 HOGA1 NM_138413.3(HOGA1): c.227G> A (p.Gly76Asp) single nucleotide variant Pathogenic rs796052088 GRCh38 Chromosome 10, 97598790: 97598790
13 HOGA1 NM_138413.3(HOGA1): c.308A> T (p.Asn103Ile) single nucleotide variant Pathogenic rs796052089 GRCh37 Chromosome 10, 99358628: 99358628
14 HOGA1 NM_138413.3(HOGA1): c.337G> A (p.Glu113Lys) single nucleotide variant Pathogenic rs150702945 GRCh38 Chromosome 10, 97598900: 97598900
15 HOGA1 NM_138413.3(HOGA1): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs767405535 GRCh38 Chromosome 10, 97599094: 97599094
16 HOGA1 NM_138413.3(HOGA1): c.529G> T (p.Asp177Tyr) single nucleotide variant Pathogenic rs777601935 GRCh38 Chromosome 10, 97599740: 97599740
17 HOGA1 NM_138413.3(HOGA1): c.533T> C (p.Leu178Pro) single nucleotide variant Pathogenic rs796052090 GRCh37 Chromosome 10, 99359501: 99359501
18 HOGA1 NM_138413.3(HOGA1): c.535C> A (p.Pro179Thr) single nucleotide variant Pathogenic rs374327791 GRCh38 Chromosome 10, 97599746: 97599746
19 HOGA1 NM_138413.3(HOGA1): c.569C> T (p.Pro190Leu) single nucleotide variant Pathogenic rs202047589 GRCh38 Chromosome 10, 97599780: 97599780
20 HOGA1 NM_138413.3(HOGA1): c.700+5G> T single nucleotide variant Pathogenic rs185803104 GRCh38 Chromosome 10, 97600168: 97600168
21 HOGA1 NM_138413.3(HOGA1): c.728C> A (p.Ala243Asp) single nucleotide variant Pathogenic rs796052085 GRCh38 Chromosome 10, 97601884: 97601884
22 HOGA1 NM_138413.3(HOGA1): c.733G> A (p.Val245Ile) single nucleotide variant Pathogenic rs755562733 GRCh37 Chromosome 10, 99361646: 99361646
23 HOGA1 NM_138413.3(HOGA1): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs796052086 GRCh38 Chromosome 10, 97601919: 97601919
24 HOGA1 NM_138413.3(HOGA1): c.834G> A (p.Ala278=) single nucleotide variant Pathogenic rs770050262 GRCh37 Chromosome 10, 99361747: 99361747
25 HOGA1 NM_138413.3(HOGA1): c.839C> T (p.Thr280Ile) single nucleotide variant Pathogenic rs756489804 GRCh37 Chromosome 10, 99371271: 99371271
26 HOGA1 NM_138413.3(HOGA1): c.875T> C (p.Met292Thr) single nucleotide variant Pathogenic rs796052087 GRCh38 Chromosome 10, 97611550: 97611550
27 HOGA1 NM_138413.3(HOGA1): c.907C> T (p.Arg303Cys) single nucleotide variant Pathogenic rs149150736 GRCh38 Chromosome 10, 97611582: 97611582
28 HOGA1 NM_138413.3(HOGA1): c.973G> A (p.Gly325Ser) single nucleotide variant Pathogenic rs777046879 GRCh37 Chromosome 10, 99371405: 99371405
29 HOGA1 NM_138413.3(HOGA1): c.158delA (p.Asp53Alafs) deletion Pathogenic rs796052091 GRCh37 Chromosome 10, 99344618: 99344618
30 HOGA1 NM_138413.3(HOGA1): c.803_805delTGC (p.Leu268del) deletion Pathogenic rs796052092 GRCh38 Chromosome 10, 97601959: 97601961
31 HOGA1 NM_138413.3(HOGA1): c.331G> A (p.Gly111Arg) single nucleotide variant Likely pathogenic rs200529020 GRCh38 Chromosome 10, 97598894: 97598894

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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42 MESH via Orphanet
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60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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