MCID: HYP602
MIFTS: 31

Hyperoxaluria, Primary, Type Ii 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 50 23 12 48
D-Glycerate Dehydrogenase Deficiency 22 46 23 52 68
Glyoxylate Reductase/hydroxypyruvate Reductase Deficiency 22 46 23 68
Primary Hyperoxaluria Type 2 22 46 52 66
L-Glyceric Aciduria 22 23 52 68
Primary Hyperoxaluria Type Ii 68 25
Glyceric Aciduria 46 68
Hp2 46 68
 
Glyoxylate Reductase/hydroxypyruvate Reductase 12
Glyoxylate Reductase Deficiency 23
Hyperoxaluria, Primary, Type 2 23
Hyperoxaluria Primary Type Ii 68
Hyperoxaluria Primary 2 68
Oxalosis Ii 68
Oxalosis 2 46
Ph2 68

Characteristics:

Orphanet epidemiological data:

52
d-glycerate dehydrogenase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age

HPO:

62
hyperoxaluria, primary, type ii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 260000
Orphanet52 ORPHA93599
ICD10 via Orphanet29 E74.8
MedGen35 C0268165
MeSH37 D006960

Summaries for Hyperoxaluria, Primary, Type Ii

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NIH Rare Diseases:46 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 and endothelial.

UniProtKB/Swiss-Prot:68 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:50 260000

GeneReviews summary 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 hyperoxaluria11.5
3d-glycericacidemia11.1
4end stage renal failure10.0
5nephrocalcinosis10.0
6malaria10.0
7hyperoxaluria, primary, type 110.0

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



Diseases related to hyperoxaluria, primary, type ii

Symptoms for Hyperoxaluria, Primary, Type Ii

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Symptoms by clinical synopsis from OMIM:

260000

Clinical features from OMIM:

260000

HPO human phenotypes related to Hyperoxaluria, Primary, Type Ii:

(show all 6)
id Description Frequency HPO Source Accession
1 renal insufficiency rare (5%) HP:0000083
2 nephrocalcinosis HP:0000121
3 hematuria HP:0000790
4 hyperoxaluria HP:0003159
5 aminoaciduria HP:0003355
6 calcium oxalate nephrolithiasis 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 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
vitamin eNutraceuticalPhase 2, Phase 339259-02-914985
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
2TocotrienolNutraceuticalPhase 2, Phase 3391
3TocopherolNutraceuticalPhase 2, Phase 3395
4
VorinostatPhase 2240149647-78-95311
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
5
Temazepam27846-50-45391
Synonyms:
1,3-Dihydro-7-chloro-3-hydroxy-1-methyl-5-phenyl-2H-1,4-benzodiazepin-2-one
3 Hydroxydiazepam
3-Hydroxydiazepam
5-25-02-00242 (Beilstein Handbook Reference)
7-CHLORO-1,3-DIHYDRO-3-HYDROXY-1-METHYL-5-PHENYL-2H-1,4-BENZODIAZEPIN-2-ONE
7-Chloro-3-hydroxy-1-methyl-5-phenyl-1,3-dihydro-2H-1,4-benzodiazepin-2-one
7-chloro-3-hydroxy-1-methyl-5-phenyl-3H-1,4-benzodiazepin-2-one
846-50-4
AC1L1K92
AHP Brand of Temazepam
Alphapharm Brand of Temazepam
Apo Temazepam
Apo-Temazepam
Apotex Brand of Temazepam
BRN 0759300
CCRIS 1954
CHEMBL967
CID5391
Cerepax
Crisonar
D00370
D013693
DB00231
DEA No. 2925
Dasuen
Desitin Brand of Temazepam
DivK1c_000989
EINECS 212-688-1
ER 115
Euhypnos
Euipnos
Gelthix
Gen Temazepam
Gen-Temazepam
Genopharm Brand of Temazepam
Genpharm Brand of Temazepam
HMS503E19
Hydroxydiazepam
ICN Brand of Temazepam
IDI1_000989
K-3917
K3917
KBio1_000989
Katwijk Brand of Temazepam
Knoll Brand of Temazepam
LS-7712
Lenal
Levanxene
Levanxol
Levanzene
Mabertin
Mallinckrodt Brand of Temazepam
Methyloxazepam
MolPort-002-051-814
N-Methyloxazepam
NCGC00159440-02
NINDS_000989
NSC 246303
NSC246303
Neodorm SP
Nocturne
 
Nomapam
Norkotral Tema
Normison
Normitab
Nortem
Norton Brand of Temazepam
Novartis Brand of Temazepam
Novo Temazepam
Novo-Temazepam
Novopharm Brand of Temazepam
Nu Pharm Brand of Temazepam
Nu Temazepam
Nu-Pharm Brand of Temazepam
Nu-Temazepam
Orion Brand of Temazepam
Oxydiazepam
PMS Temazepam
PMS-Temazepam
Perdorm
Pfizer Brand 1 of Temazepam
Pfizer Brand 2 of Temazepam
Pharmascience Brand of Temazepam
Planum
Pronervon T
Remestan
Restoril
Restoril (TN)
Ro 5 5345
Ro 5-5345
Ro-5-5345
Ro55345
SaH 47 603
SaH 47-603
SaH 47603
Scheffler Brand of Temazepam
Sigma Brand of Temazepam
Signopam
T8275_FLUKA
T8275_SIGMA
Tema, Norkotral
Temador
Temaz
Temaze
Temazepam (USP/INN)
Temazepam [USAN:INN:BAN]
Temazepam, pharmaceutical grade
Temazepamum
Temazepamum [INN-Latin]
Temtabs
Tenox
UNII-CHB1QD2QSS
Uvamin Retard
WLN: T67 GNV JN IHJ CG G1 IQ KR
WY 2917
WY 3917
WY3917
Wy-3917
Wyeth Brand of Temazepam
ct Arzneimittel Brand of Temazepam
ct-Arzneimittel Brand of Temazepam
temazep von ct
temazepam
6
Iron10807439-89-623925
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
7ferric gluconate19
8methionineNutraceutical76
9carnitineNutraceutical152
10lysineNutraceutical81

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
6Epidemiology of Papillomavirus Infection (HPV) on Infected Women by Human Immunodeficience Virus (HIV) in West Indies and French Guiana.CompletedNCT01226368
7Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non ExacerbatorsCompletedNCT01745419
8Haptoglobin Phenotype and Cardiovascular Complications in Diabetic PatientsCompletedNCT00448487
9Effect of Sleep Apnea Treatment on Type 1 DiabetesCompletedNCT02316665
10Relationship of Haptoglobin Phenotype to Vascular Function and Response to Vitamin E Supplementation in Patients With Diabetes Mellitus Type 2: The EVAS TrialRecruitingNCT02776397
11Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
12Haptoglobin and Diabetes Complications in PregnancyRecruitingNCT01758016
13Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin GenotypeRecruitingNCT02312414
14Primary Hyperoxaluria Mutation Genotyping/PhenotypingRecruitingNCT02340689
15Severe Obesity Outcome Network CohortRecruitingNCT02264431
16Prospective Research Rare Kidney Stones (ProRKS)RecruitingNCT02780297
17Associations Between Diabetes Care and Haptoglobin Genotype On outComesActive, not recruitingNCT00872456
18Effect of a Novel Nutraceutical on Weight Loss and Weight Maintenance in Obese SubjectsActive, not recruitingNCT01656681
19The Type of Hepatoglobin in IUGRNot yet recruitingNCT02127385
20Cognitive Dysfunction in People Who Are Obese But Metabolically HealthyNot yet recruitingNCT01928355
21International Registry for Primary HyperoxaluriaWithdrawnNCT00875823

Search NIH Clinical Center for Hyperoxaluria, Primary, Type Ii

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 Ii25
2 Hyperoxaluria, Primary, Type 223 GRHPR

Anatomical Context for Hyperoxaluria, Primary, Type Ii

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

34
Kidney, Endothelial

Animal Models for Hyperoxaluria, Primary, Type Ii or affiliated genes

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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 29)
id Gene Variation Type Significance SNP ID Assembly Location
1GRHPRNM_012203.1(GRHPR): c.864_865delTG (p.Val289Aspfs)deletionLikely pathogenic, 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)single nucleotide variantPathogenicrs180177322GRCh37Chr 9, 37436696: 37436696
4GRHPRNM_012203.1(GRHPR): c.337G> A (p.Glu113Lys)single nucleotide variantLikely pathogenic, Pathogenicrs180177307GRCh37Chr 9, 37426584: 37426584
5GRHPRNM_012203.1(GRHPR): c.-4_-3delGCinsATindelPathogenicrs796052077GRCh37Chr 9, 37422744: 37422745
6GRHPRNM_012203.1(GRHPR): c.102G> A (p.Trp34Ter)single nucleotide variantPathogenicrs180177304GRCh37Chr 9, 37424860: 37424860
7GRHPRNM_012203.1(GRHPR): c.203T> C (p.Leu68Pro)single nucleotide variantPathogenicrs180177305GRCh37Chr 9, 37424961: 37424961
8GRHPRNM_012203.1(GRHPR): c.287G> T (p.Arg96Leu)single nucleotide variantPathogenicrs796052078GRCh38Chr 9, 37425994: 37425994
9GRHPRNM_012203.1(GRHPR): c.478G> A (p.Gly160Arg)single nucleotide variantPathogenicrs180177312GRCh37Chr 9, 37428554: 37428554
10GRHPRNM_012203.1(GRHPR): c.494G> A (p.Gly165Asp)single nucleotide variantPathogenicrs180177314GRCh37Chr 9, 37429729: 37429729
11GRHPRNM_012203.1(GRHPR): c.743T> A (p.Val248Asp)single nucleotide variantPathogenicrs796052079GRCh37Chr 9, 37432013: 37432013
12GRHPRNM_012203.1(GRHPR): c.905G> A (p.Arg302His)single nucleotide variantPathogenicrs180177323GRCh38Chr 9, 37436700: 37436700
13GRHPRNM_012203.1(GRHPR): c.934A> G (p.Asn312Asp)single nucleotide variantPathogenicrs180177324GRCh38Chr 9, 37436729: 37436729
14GRHPRNM_012203.1(GRHPR): c.965T> G (p.Met322Arg)single nucleotide variantPathogenicrs180177325GRCh37Chr 9, 37436757: 37436757
15GRHPRNM_012203.1(GRHPR): c.965T> C (p.Met322Thr)single nucleotide variantPathogenicrs180177325GRCh38Chr 9, 37436760: 37436760
16GRHPRNM_012203.1(GRHPR): c.84-2A> Gsingle nucleotide variantPathogenicrs180177319GRCh37Chr 9, 37424840: 37424840
17GRHPRNM_012203.1(GRHPR): c.493+2T> Asingle nucleotide variantPathogenicrs180177313GRCh37Chr 9, 37428571: 37428571
18GRHPRNM_012203.1(GRHPR): c.735-1G> Asingle nucleotide variantPathogenicrs180177317GRCh37Chr 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_008135.1insertionPathogenic
22GRHPRNM_012203.1(GRHPR): c.375delG (p.Leu126Cysfs)deletionPathogenicrs180177308GRCh37Chr 9, 37426622: 37426622
23GRHPRNM_012203.1(GRHPR): c.404+3_404+6delAAGTdeletionPathogenicrs180177309GRCh37Chr 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
27GRHPRNC_000009.12: g.37426653_37428486del1834deletionPathogenicrs180177309GRCh37Chr 9, 37426650: 37428483
28GRHPRNM_012203.1(GRHPR): c.103delG (p.Asp35Thrfs)deletionPathogenicrs80356708GRCh37Chr 9, 37424861: 37424861
29GRHPRNM_012203.1(GRHPR): c.295C> T (p.Arg99Ter)single nucleotide variantPathogenicrs119490108GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet