HP2
MCID: HYP602
MIFTS: 31

Hyperoxaluria, Primary, Type Ii (HP2) malady

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

Aliases & Classifications for Hyperoxaluria, Primary, Type Ii

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Aliases & Descriptions for Hyperoxaluria, Primary, Type Ii:

Name: Hyperoxaluria, Primary, Type Ii 52 24 12 50
D-Glycerate Dehydrogenase Deficiency 23 48 24 54 70
Glyoxylate Reductase/hydroxypyruvate Reductase Deficiency 23 48 24 70
Primary Hyperoxaluria Type 2 23 48 54 68
L-Glyceric Aciduria 23 24 54 70
Primary Hyperoxaluria Type Ii 70 27
Glyceric Aciduria 48 70
Hp2 48 70
 
Glyoxylate Reductase/hydroxypyruvate Reductase 12
Glyoxylate Reductase Deficiency 24
Hyperoxaluria, Primary, Type 2 24
Hyperoxaluria Primary Type Ii 70
Hyperoxaluria Primary 2 70
Oxalosis Ii 70
Oxalosis 2 48
Ph2 70

Characteristics:

Orphanet epidemiological data:

54
d-glycerate dehydrogenase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age

HPO:

64
hyperoxaluria, primary, type ii:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 260000
Orphanet54 ORPHA93599
ICD10 via Orphanet31 E74.8
MedGen37 C0268165
MeSH39 D006960

Summaries for Hyperoxaluria, Primary, Type Ii

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NIH Rare Diseases:48 Primary hyperoxaluria type 2  is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). in the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (grhpr) that normally prevents the buildup of oxalate. this enzyme shortage is caused by mutations in the grhpr gene. primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern. last updated: 1/3/2013

MalaCards based summary: Hyperoxaluria, Primary, Type Ii, also known as d-glycerate dehydrogenase deficiency, is related to d-glyceric aciduria and primary hyperoxaluria, and has symptoms including renal insufficiency, nephrocalcinosis and hematuria. An important gene associated with Hyperoxaluria, Primary, Type Ii is GRHPR (Glyoxylate And Hydroxypyruvate Reductase). Affiliated tissues include kidney.

UniProtKB/Swiss-Prot:70 Hyperoxaluria primary 2: A disorder characterized by elevated urinary excretion of oxalate and L-glycerate, progressive tissue accumulation of insoluble calcium oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal disease.

Description from OMIM:52 260000

GeneReviews for NBK2692

Related Diseases for Hyperoxaluria, Primary, Type Ii

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Diseases in the Primary Hyperoxaluria family:

Hyperoxaluria, Primary, Type 1 hyperoxaluria, primary, type ii
Hyperoxaluria, Primary, Type Iii

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

idRelated DiseaseScoreTop Affiliating Genes
1d-glyceric aciduria12.5
2primary hyperoxaluria11.4
3d-glycericacidemia11.0
4hyperoxaluria, primary, type 110.9
5end stage renal failure9.9
6nephrocalcinosis9.9
7malaria9.9

Graphical network of diseases related to Hyperoxaluria, Primary, Type Ii:



Diseases related to hyperoxaluria, primary, type ii

Symptoms & Phenotypes for Hyperoxaluria, Primary, Type Ii

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Symptoms by clinical synopsis from OMIM:

260000

Clinical features from OMIM:

260000

Human phenotypes related to Hyperoxaluria, Primary, Type Ii:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 renal insufficiency64 HP:0000083
2 nephrocalcinosis64 HP:0000121
3 hematuria64 HP:0000790
4 hyperoxaluria64 HP:0003159
5 aminoaciduria64 HP:0003355
6 calcium oxalate nephrolithiasis64 HP:0008672

Drugs & Therapeutics for Hyperoxaluria, Primary, Type Ii

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

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Eapproved, nutraceutical, vet_approvedPhase 2, Phase 341459-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'R)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
5,7,8-trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
2Trace ElementsPhase 2, Phase 36001
3AntioxidantsPhase 2, Phase 33050
4TocotrienolsPhase 2, Phase 3410
5VitaminsPhase 2, Phase 35282
6Protective AgentsPhase 2, Phase 37443
7TocopherolsPhase 2, Phase 3414
8MicronutrientsPhase 2, Phase 36001
9TocotrienolNutraceuticalPhase 2, Phase 3410
10TocopherolNutraceuticalPhase 2, Phase 3414
11
Vorinostatapproved, investigationalPhase 2247149647-78-95311
Synonyms:
149647-78-9
1zz1
AC-1923
AC1L1K2K
BRD-K81418486-001-10-3
C111237
CCRIS 8456
CHEBI:45716
CHEMBL98
CID5311
D06320
DB02546
EC-000.2057
FT-0082592
LS-186548
LS-186997
LS-187780
MK-0683
MK0683
MLS001065855
Merck brand of Vorinostat
MolPort-003-850-293
N'-hydroxy-N-phenyloctanediamide
N-Hydroxy-N'-phenyl octanediamide
N-Hydroxy-N'-phenyloctanediamide
N-Hyrdroxy-N'-phenyloctanediamide
N-hydroxy-N'-phenyl-octane-1,8-diotic acid diamide
N-hydroxy-N'-phenyloctanediamide
N1-hydroxy-N8-phenyloctanediamide
NCGC00168085-02
 
NHNPODA
NSC-701852
NSC701852
OCTANEDIOIC ACID HYDROXYAMIDE PHENYLAMIDE
Octanedioic acid hydroxyamide phenylamide
S1047_Selleck
SAHA
SAHA cpd
SAHA, Suberoylanilide hydroxamic acid
SHH
SKI390
SMR000486344
SW-064652
Suberanilohydroxamic acid
SuberoylaN/Aide hydroxamic acid
Suberoylanilide hydroxamic acid
UNII-58IFB293JI
Vorinostat
Vorinostat (JAN/USAN)
Vorinostat MSD
Vorinostat [USAN]
Vorinostatum
WIN64652
ZINC01543873
Zolinza
Zolinza (TN)
Zolinza, MK-0683, SAHA
m344
nchembio.275-comp2
nchembio.313-comp1
nchembio815-comp18
suberoylanilide hydroxamic acid
12Histone Deacetylase InhibitorsPhase 2569
13
Ironapproved11657439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
14Hematinics1684
15ferric gluconate18
16Antibiotics, Antitubercular7180
17Anti-Bacterial Agents11226
18carnitineNutraceutical162
19lysineNutraceutical98
20methionineNutraceutical88

Interventional clinical trials:

(show all 21)
idNameStatusNCT IDPhase
1Endothelial Function in a Sample Group of Patients From the ICARE StudyCompletedNCT00314379Phase 2, Phase 3
2Phase 2/3 Oxabact StudyCompletedNCT01037231Phase 2, Phase 3
3Renal Protective Effect of ACEI and ARB in Primary HyperoxaluriaWithdrawnNCT00280215Phase 3
4Vorinostat in Treating Patients With Metastatic or Unresectable MelanomaCompletedNCT00121225Phase 2
5Primary Hyperoxaluria Mutation GenotypingCompletedNCT00589225Phase 1
6The Type of Hepatoglobin in IUGRUnknown statusNCT02127385
7Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin GenotypeUnknown statusNCT02312414
8Cognitive Dysfunction in People Who Are Obese But Metabolically HealthyUnknown statusNCT01928355
9Effect of a Novel Nutraceutical on Weight Loss and Weight Maintenance in Obese SubjectsUnknown statusNCT01656681
10Epidemiology of Papillomavirus Infection (HPV) on Infected Women by Human Immunodeficience Virus (HIV) in West Indies and French Guiana.CompletedNCT01226368
11Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non ExacerbatorsCompletedNCT01745419
12Haptoglobin Phenotype and Cardiovascular Complications in Diabetic PatientsCompletedNCT00448487
13Effect of Sleep Apnea Treatment on Type 1 DiabetesCompletedNCT02316665
14Relationship of Haptoglobin Phenotype to Vascular Function and Response to Vitamin E Supplementation in Patients With Diabetes Mellitus Type 2: The EVAS TrialRecruitingNCT02776397
15Haptoglobin and Diabetes Complications in PregnancyRecruitingNCT01758016
16Severe Obesity Outcome Network Cohort (SOON)RecruitingNCT02264431
17Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
18Primary Hyperoxaluria Mutation Genotyping/PhenotypingRecruitingNCT02340689
19Prospective Research Rare Kidney Stones (ProRKS)RecruitingNCT02780297
20Associations Between Diabetes Care and Haptoglobin Genotype On outComesActive, not recruitingNCT00872456
21International Registry for Primary HyperoxaluriaWithdrawnNCT00875823

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Genetic Tests for Hyperoxaluria, Primary, Type Ii

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Genetic tests related to Hyperoxaluria, Primary, Type Ii:

id Genetic test Affiliating Genes
1 Primary Hyperoxaluria, Type Ii27
2 Hyperoxaluria, Primary, Type 224 GRHPR

Anatomical Context for Hyperoxaluria, Primary, Type Ii

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

36
Kidney

Publications for Hyperoxaluria, Primary, Type Ii

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Variations for Hyperoxaluria, Primary, Type Ii

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Clinvar genetic disease variations for Hyperoxaluria, Primary, Type Ii:

5 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1GRHPRNM_ 012203.1(GRHPR): c.864_ 865delTG (p.Val289Aspfs)deletionPathogenic/ Likely pathogenicrs180177321GRCh37Chr 9, 37432134: 37432135
2GRHPRNM_ 012203.1(GRHPR): c.248_ 249delTG (p.Val83Glyfs)deletionPathogenicrs672601351GRCh38Chr 9, 37425955: 37425956
3GRHPRNM_ 012203.1(GRHPR): c.904C> T (p.Arg302Cys)SNVPathogenicrs180177322GRCh37Chr 9, 37436696: 37436696
4GRHPRNM_ 012203.1(GRHPR): c.337G> A (p.Glu113Lys)SNVPathogenic/ Likely pathogenicrs180177307GRCh38Chr 9, 37426587: 37426587
5GRHPRNM_ 012203.1(GRHPR): c.-4_ -3delGCinsATindelPathogenicrs796052077GRCh37Chr 9, 37422744: 37422745
6GRHPRNM_ 012203.1(GRHPR): c.102G> A (p.Trp34Ter)SNVPathogenicrs180177304GRCh37Chr 9, 37424860: 37424860
7GRHPRNM_ 012203.1(GRHPR): c.203T> C (p.Leu68Pro)SNVPathogenicrs180177305GRCh37Chr 9, 37424961: 37424961
8GRHPRNM_ 012203.1(GRHPR): c.287G> T (p.Arg96Leu)SNVPathogenicrs796052078GRCh37Chr 9, 37425991: 37425991
9GRHPRNM_ 012203.1(GRHPR): c.478G> A (p.Gly160Arg)SNVPathogenicrs180177312GRCh37Chr 9, 37428554: 37428554
10GRHPRNM_ 012203.1(GRHPR): c.494G> A (p.Gly165Asp)SNVPathogenicrs180177314GRCh37Chr 9, 37429729: 37429729
11GRHPRNM_ 012203.1(GRHPR): c.743T> A (p.Val248Asp)SNVPathogenicrs796052079GRCh37Chr 9, 37432013: 37432013
12GRHPRNM_ 012203.1(GRHPR): c.905G> A (p.Arg302His)SNVPathogenicrs180177323GRCh38Chr 9, 37436700: 37436700
13GRHPRNM_ 012203.1(GRHPR): c.934A> G (p.Asn312Asp)SNVPathogenicrs180177324GRCh38Chr 9, 37436729: 37436729
14GRHPRNM_ 012203.1(GRHPR): c.965T> G (p.Met322Arg)SNVPathogenicrs180177325GRCh37Chr 9, 37436757: 37436757
15GRHPRNM_ 012203.1(GRHPR): c.965T> C (p.Met322Thr)SNVPathogenicrs180177325GRCh38Chr 9, 37436760: 37436760
16GRHPRNM_ 012203.1(GRHPR): c.84-2A> GSNVPathogenicrs180177319GRCh37Chr 9, 37424840: 37424840
17GRHPRNM_ 012203.1(GRHPR): c.493+2T> ASNVPathogenic/ Likely pathogenicrs180177313GRCh37Chr 9, 37428571: 37428571
18GRHPRNM_ 012203.1(GRHPR): c.735-1G> ASNVPathogenic/ Likely pathogenicrs180177317GRCh37Chr 9, 37432004: 37432004
19GRHPRNM_ 012203.1(GRHPR): c.45delA (p.Ala17Profs)deletionPathogenicrs180177311GRCh37Chr 9, 37422792: 37422792
20GRHPRNM_ 012203.1(GRHPR): c.288-2_ 288delAGTdeletionPathogenicrs796052081GRCh37Chr 9, 37426533: 37426535
21GRHPRNG_ 008135.1: g.[8888_ 8892delins7465_ 7744;8897_ 8910dup]insertionPathogenic
22GRHPRNM_ 012203.1(GRHPR): c.375delG (p.Leu126Cysfs)deletionPathogenicrs180177308GRCh37Chr 9, 37426622: 37426622
23GRHPRNM_ 012203.1(GRHPR): c.404+3_ 404+6delAAGTdeletionPathogenic/ Likely pathogenicrs180177309GRCh37Chr 9, 37426654: 37426657
24GRHPRNM_ 012203.1(GRHPR): c.540delT (p.Leu181Cysfs)deletionPathogenicrs180177315GRCh37Chr 9, 37429775: 37429775
25GRHPRNM_ 012203.1(GRHPR): c.608_ 609delCT (p.Pro203Argfs)deletionPathogenicrs180177316GRCh37Chr 9, 37430517: 37430518
26GRHPRNM_ 012203.1(GRHPR): c.694delC (p.Gln232Argfs)deletionPathogenicrs796052082GRCh38Chr 9, 37430606: 37430606
27GRHPRNM_ 012203.1(GRHPR): c.597delT (p.Phe199Leufs)deletionLikely pathogenicrs1057516292GRCh37Chr 9, 37429832: 37429832
28GRHPRNM_ 012203.1(GRHPR): c.404delA (p.Asn135Metfs)deletionLikely pathogenicrs1057516299GRCh37Chr 9, 37426651: 37426651
29GRHPRNM_ 012203.1(GRHPR): c.755dupA (p.Asp252Glufs)duplicationLikely pathogenicrs1057516823GRCh38Chr 9, 37432028: 37432028
30GRHPRNM_ 012203.1(GRHPR): c.954delA (p.Glu320Serfs)deletionLikely pathogenicrs1057516831GRCh37Chr 9, 37436746: 37436746
31GRHPRNM_ 012203.1(GRHPR): c.454dupA (p.Thr152Asnfs)duplicationLikely pathogenicrs1057516941GRCh37Chr 9, 37428530: 37428530
32GRHPRNM_ 012203.1(GRHPR): c.515delT (p.Leu172Argfs)deletionLikely pathogenicrs1057516990GRCh37Chr 9, 37429750: 37429750
33GRHPRNM_ 012203.1(GRHPR): c.441_ 442delTG (p.Cys147Trpfs)deletionLikely pathogenicrs1057517026GRCh37Chr 9, 37428517: 37428518
34GRHPRNM_ 012203.1(GRHPR): c.154delG (p.Ala52Profs)deletionLikely pathogenicrs1057517216GRCh38Chr 9, 37424915: 37424915
35GRHPRNM_ 012203.1(GRHPR): c.228dupA (p.Val77Serfs)duplicationLikely pathogenicrs1057517238GRCh37Chr 9, 37425932: 37425932
36GRHPRNM_ 012203.1(GRHPR): c.435_ 436delGC (p.Trp145Cysfs)deletionLikely pathogenicrs1057517333GRCh38Chr 9, 37428514: 37428515
37GRHPRNM_ 012203.1(GRHPR): c.337G> T (p.Glu113Ter)SNVLikely pathogenicrs180177307GRCh38Chr 9, 37426587: 37426587
38GRHPRNM_ 012203.1(GRHPR): c.214+2T> GSNVLikely pathogenicrs1057517398GRCh37Chr 9, 37424974: 37424974
39GRHPRNM_ 012203.1(GRHPR): c.103delG (p.Asp35Thrfs)deletionPathogenicrs80356708GRCh37Chr 9, 37424861: 37424861
40GRHPRNM_ 012203.1(GRHPR): c.295C> T (p.Arg99Ter)SNVPathogenicrs119490108GRCh37Chr 9, 37426542: 37426542

Expression for genes affiliated with Hyperoxaluria, Primary, Type Ii

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

Pathways for genes affiliated with Hyperoxaluria, Primary, Type Ii

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GO Terms for genes affiliated with Hyperoxaluria, Primary, Type Ii

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Sources for Hyperoxaluria, Primary, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet