MCID: HYP602
MIFTS: 28

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 49 11 22 47
D-Glycerate Dehydrogenase Deficiency 21 45 22 51 67
Glyoxylate Reductase/hydroxypyruvate Reductase Deficiency 21 45 22 67
Primary Hyperoxaluria Type 2 21 45 51 65
L-Glyceric Aciduria 21 22 51 67
Primary Hyperoxaluria Type Ii 67 24
Glyceric Aciduria 45 67
Hp2 45 67
 
Glyoxylate Reductase Deficiency 22
Hyperoxaluria, Primary, Type 2 22
Hyperoxaluria Primary Type Ii 67
Hyperoxaluria Primary 2 67
Oxalosis Ii 67
Oxalosis 2 45
Ph2 67

Characteristics:

Orphanet epidemiological data:

51
d-glycerate dehydrogenase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age

HPO:

61
hyperoxaluria, primary, type ii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 260000
Orphanet51 93599
ICD10 via Orphanet28 E74.8
MedGen34 C0268165
MeSH36 D006960
UMLS65 C0268165

Summaries for Hyperoxaluria, Primary, Type Ii

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NIH Rare Diseases:45 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, calcium oxalate nephrolithiasis and aminoaciduria. An important gene associated with Hyperoxaluria, Primary, Type Ii is GRHPR (Glyoxylate Reductase/Hydroxypyruvate Reductase). Affiliated tissues include kidney, endothelial and eye.

UniProtKB/Swiss-Prot:67 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:49 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 aciduria12.8
2primary hyperoxaluria11.9
3d-glycericacidemia11.8
4succinic semialdehyde dehydrogenase deficiency10.4
5congestive heart failure10.4
6vein of galen aneurysm10.4
7aneurysm10.4
8erythema multiforme10.1
9eisenmenger syndrome10.1
10dysautonomia10.1

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 calcium oxalate nephrolithiasis HP:0008672
3 aminoaciduria HP:0003355
4 hyperoxaluria HP:0003159
5 hematuria HP:0000790
6 nephrocalcinosis HP:0000121

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, nutraceuticalPhase 2, Phase 337159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-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)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
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
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
2Trace ElementsPhase 2, Phase 33900
3AntioxidantsPhase 2, Phase 32442
4TocotrienolsPhase 2, Phase 3372
5VitaminsPhase 2, Phase 33857
6Protective AgentsPhase 2, Phase 35651
7TocopherolsPhase 2, Phase 3376
8MicronutrientsPhase 2, Phase 33901
9TocotrienolNutraceuticalPhase 2, Phase 3372
10TocopherolNutraceuticalPhase 2, Phase 3376
11
Vorinostatapproved, investigationalPhase 2238149647-78-95311
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 2532
13
Temazepamapproved10846-50-45391
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
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
14
Ironapproved10217439-89-623925
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
Dexiron
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
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
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
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
15ferric gluconate18
16Anti-Bacterial Agents9140
17Antibiotics, Antitubercular5971
18carnitineNutraceutical146
19lysineNutraceutical77
20methionineNutraceutical73

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
5Epidemiology of Papillomavirus Infection (HPV) on Infected Women by Human Immunodeficience Virus (HIV) in West Indies and French Guiana.CompletedNCT01226368
6Haptoglobin Phenotype and Cardiovascular Complications in Diabetic PatientsCompletedNCT00448487
7Effect of Sleep Apnea Treatment on Type 1 DiabetesCompletedNCT02316665
8Primary Hyperoxaluria Mutation GenotypingCompletedNCT00589225
9Relationship of Haptoglobin Phenotype to Vascular Function and Response to Vitamin E Supplementation in Patients With Diabetes Mellitus Type 2: The EVAS TrialRecruitingNCT02776397
10Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
11Haptoglobin and Diabetes Complications in PregnancyRecruitingNCT01758016
12Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin GenotypeRecruitingNCT02312414
13Primary Hyperoxaluria Mutation Genotyping/PhenotypingRecruitingNCT02340689
14Severe Obesity Outcome Network CohortRecruitingNCT02264431
15Prospective Research Rare Kidney Stones (ProRKS)RecruitingNCT02780297
16Associations Between Diabetes Care and Haptoglobin Genotype On outComesActive, not recruitingNCT00872456
17Effect of a Novel Nutraceutical on Weight Loss and Weight Maintenance in Obese SubjectsActive, not recruitingNCT01656681
18Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non ExacerbatorsNot yet recruitingNCT01745419
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 Hyperoxaluria, Primary, Type 222 GRHPR

Anatomical Context for Hyperoxaluria, Primary, Type Ii

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

33
Kidney, Endothelial, Eye

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 30)
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, Pathogenicrs180177307GRCh38Chr 9, 37426587: 37426587
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 variantPathogenicrs796052078GRCh37Chr 9, 37425991: 37425991
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.84-13_84-12delCCdeletionPathogenicrs796052080GRCh37Chr 9, 37424829: 37424830
21GRHPRNM_012203.1(GRHPR): c.288-2_288delAGTdeletionPathogenicrs796052081GRCh37Chr 9, 37426533: 37426535
22GRHPRNG_008135.1insertionPathogenic
23GRHPRNM_012203.1(GRHPR): c.375delG (p.Leu126Cysfs)deletionPathogenicrs180177308GRCh37Chr 9, 37426622: 37426622
24GRHPRNM_012203.1(GRHPR): c.404+3_404+6delAAGTdeletionPathogenicrs180177309GRCh37Chr 9, 37426654: 37426657
25GRHPRNM_012203.1(GRHPR): c.540delT (p.Leu181Cysfs)deletionPathogenicrs180177315GRCh37Chr 9, 37429775: 37429775
26GRHPRNM_012203.1(GRHPR): c.608_609delCT (p.Pro203Argfs)deletionPathogenicrs180177316GRCh37Chr 9, 37430517: 37430518
27GRHPRNM_012203.1(GRHPR): c.694delC (p.Gln232Argfs)deletionPathogenicrs796052082GRCh38Chr 9, 37430606: 37430606
28GRHPRNC_000009.12: g.37426653_37428486del1834deletionPathogenicrs180177309GRCh37Chr 9, 37426650: 37428483
29GRHPRNM_012203.1(GRHPR): c.103delG (p.Asp35Thrfs)deletionPathogenicrs80356708GRCh37Chr 9, 37424861: 37424861
30GRHPRNM_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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet