ARCS1
MCID: ART062
MIFTS: 62

Arthrogryposis, Renal Dysfunction, and Cholestasis 1 (ARCS1)

Categories: Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

MalaCards integrated aliases for Arthrogryposis, Renal Dysfunction, and Cholestasis 1:

Name: Arthrogryposis, Renal Dysfunction, and Cholestasis 1 57 13
Arc Syndrome 57 12 75 53 59 74 15
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 75 53 29 6 72
Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome 75 53 59
Arthrogryposis, Renal Dysfunction, and Cholestasis 12 37
Renal Insufficiency 44 72
Arcs1 57 74
Arcs 57 74
Arthrogryposis Multiplex Congenita, Renal Dysfunction, and Cholestasis 53
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 12
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 1 74
Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 6
Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1 40
Arthrogryposis Renal Dysfunction and Cholestasis 1 74
Arthrogryposis - Renal Dysfunction - Cholestasis 53
Arthrogryposis-Renal Dysfunction-Cholestasis 12
Arc Syndrome; Arcs 57
Kidney Failure 72

Characteristics:

Orphanet epidemiological data:

59
arthrogryposis-renal dysfunction-cholestasis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy, usually from sepsis, dehydration, or acidosis


HPO:

32
arthrogryposis, renal dysfunction, and cholestasis 1:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050763
KEGG 37 H00950
MESH via Orphanet 45 C535382
ICD10 via Orphanet 34 Q89.7
UMLS via Orphanet 73 C1859722
Orphanet 59 ORPHA2697
MedGen 42 C1859722
UMLS 72 C0035078 C1565489 C1859722

Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2697DefinitionA rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.EpidemiologyThe prevalence is unknown but less than 100 patients have been reported in the literature so far.Clinical descriptionThe phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Renal tubular dysfunction ranges from isolated renal tubular acidosis to complete Fanconi syndrome (polyuria, aminoaciduria, glycosuria, phosphaturia and bicarbonate wasting). Hepatic anomalies include variable combinations of cholestasis, intrahepatic biliary duct hypoplasia and lipofuscin deposition. Additional features include severe failure to thrive, platelet dysfunction (which may be responsible for severe bleeding), facial dysmorphism (low set ears, lax skin, a high arched palate, beaked nose and small anterior fontanelle), diarrhea, recurrent febrile illness, cerebral malformations and sensorineural deafness.EtiologyMutations in the VPS33B gene (15q26.1), involved in intracellular protein trafficking and membrane fusion, have been found in 75% of ARC families, as well as mutations in the VIPAR gene (C14ORF133), encoding a protein that complexes with VPS33B.Differential diagnosisThe differential diagnosis should include progressive familial intrahepatic cholestasis disorders, other forms of arthrogryposis multiplex congenita and congenital ichthyosiform dermatoses (see these terms).Genetic counselingThe syndrome is generally considered to be transmitted as an autosomal recessive trait.Management and treatmentThere is no specific treatment for the disease.PrognosisMost patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay.Visit the Orphanet disease page for more resources.

MalaCards based summary : Arthrogryposis, Renal Dysfunction, and Cholestasis 1, also known as arc syndrome, is related to cholestasis and arthrogryposis, renal dysfunction, and cholestasis 2, and has symptoms including icterus An important gene associated with Arthrogryposis, Renal Dysfunction, and Cholestasis 1 is VPS33B (VPS33B Late Endosome And Lysosome Associated), and among its related pathways/superpathways are RAB geranylgeranylation and TBC/RABGAPs. The drugs Lactulose and Fosinopril have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and liver, and related phenotypes are nephrogenic diabetes insipidus and abnormal bleeding

Disease Ontology : 12 A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has material basis in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.

KEGG : 37
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a fatal multisystem disorder that causes neonatal intrahepatic cholestasis. It also exhibits notable clinical variability showing anemia, ichthyosis, and diarrhoea. Mutations in VPS33B have been found in 75% cases of ARC syndrome. Individuals without VPS33B defects have mutations in VIPAR that forms a functional complex with VPS33B.

UniProtKB/Swiss-Prot : 74 Arthrogryposis, renal dysfunction and cholestasis syndrome 1: A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common.

Wikipedia : 75 Arthrogryposis-renal dysfunction-cholestasis syndrome is a cutaneous condition caused by a mutation in... more...

More information from OMIM: 208085 PS208085

Related Diseases for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

Diseases in the Arthrogryposis, Renal Dysfunction, and Cholestasis 1 family:

Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Diseases related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1122)
# Related Disease Score Top Affiliating Genes
1 cholestasis 29.4 VPS33B VIPAS39 ATP8B1
2 arthrogryposis, renal dysfunction, and cholestasis 2 12.3
3 obsolete: platelet function disease associated with renal insufficiency 12.3
4 dent disease 1 11.6
5 secondary hyperparathyroidism of renal origin 11.6
6 hypophosphatemic rickets, x-linked recessive 11.5
7 papillorenal syndrome 11.5
8 exudative vitreoretinopathy 1 11.5
9 photokeratitis 11.5
10 hypertriglyceridemia, familial 11.4
11 vesicoureteral reflux 1 11.4
12 hepatic veno-occlusive disease 11.4
13 nephrolithiasis, x-linked recessive, with renal failure 11.3
14 tafro syndrome 11.3
15 amyloidosis, hereditary, transthyretin-related 11.2
16 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 11.2
17 nephrotic syndrome, type 7 11.2
18 mcdonough syndrome 11.1
19 exudative vitreoretinopathy 2, x-linked 11.1
20 exudative vitreoretinopathy 4 11.1
21 exudative vitreoretinopathy 5 11.1
22 exudative vitreoretinopathy 6 11.1
23 exudative vitreoretinopathy 7 11.1
24 toxic pneumonitis 11.1
25 polycystic kidney disease 4 with or without polycystic liver disease 11.1
26 mental retardation, x-linked, syndromic, martin-probst type 11.1
27 dent disease 2 11.1
28 polycystic kidney disease 3 with or without polycystic liver disease 11.1
29 focal segmental glomerulosclerosis 1 11.1
30 focal segmental glomerulosclerosis 2 11.1
31 focal segmental glomerulosclerosis 3 11.1
32 congenital anomalies of kidney and urinary tract 1 11.1
33 vesicoureteral reflux 2 11.1
34 focal segmental glomerulosclerosis 4 11.1
35 focal segmental glomerulosclerosis 5 11.1
36 fanconi renotubular syndrome 2 11.1
37 vesicoureteral reflux 3 11.1
38 focal segmental glomerulosclerosis 6 11.1
39 fanconi renotubular syndrome 3 11.1
40 vesicoureteral reflux 8 11.1
41 focal segmental glomerulosclerosis 7 11.1
42 focal segmental glomerulosclerosis 8 11.1
43 focal segmental glomerulosclerosis 9 11.1
44 iga nephropathy 3 11.1
45 polycystic kidney disease 6 with or without polycystic liver disease 11.1
46 kleefstra syndrome 11.1
47 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 11.1
48 kidney disease 10.9
49 end stage renal failure 10.8
50 acute kidney failure 10.8

Graphical network of the top 20 diseases related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1:



Diseases related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1

Symptoms & Phenotypes for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

Human phenotypes related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 nephrogenic diabetes insipidus 32 occasional (7.5%) HP:0009806
2 abnormal bleeding 32 occasional (7.5%) HP:0001892
3 lissencephaly 32 occasional (7.5%) HP:0001339
4 low-set ears 32 HP:0000369
5 muscular hypotonia 32 HP:0001252
6 failure to thrive 32 HP:0001508
7 global developmental delay 32 HP:0001263
8 hip dysplasia 32 HP:0001385
9 microcephaly 32 HP:0000252
10 ichthyosis 32 HP:0008064
11 nephropathy 32 HP:0000112
12 dehydration 32 HP:0001944
13 micrognathia 32 HP:0000347
14 generalized hypotonia 32 HP:0001290
15 elevated hepatic transaminase 32 HP:0002910
16 atrial septal defect 32 HP:0001631
17 cholestatic liver disease 32 HP:0002611
18 jaundice 32 HP:0000952
19 arthrogryposis multiplex congenita 32 HP:0002804
20 ventricular septal defect 32 HP:0001629
21 nephrocalcinosis 32 HP:0000121
22 metabolic acidosis 32 HP:0001942
23 sloping forehead 32 HP:0000340
24 conjugated hyperbilirubinemia 32 HP:0002908
25 renal tubular acidosis 32 HP:0001947
26 talipes calcaneovalgus 32 HP:0001884
27 right ventricular hypertrophy 32 HP:0001667
28 giant cell hepatitis 32 HP:0200084

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
global developmental delay
hypotonia
lissencephaly (reported in 1 patient)

Head And Neck Head:
microcephaly

Genitourinary Kidneys:
nephropathy
nephrocalcinosis
renal tubular acidosis
fanconi syndrome
nephrogenic diabetes insipidus (less common)
more
Abdomen Liver:
cholestatic liver disease
giant cell hepatitis
bile duct abnormalities (paucity, proliferation)
pigmentary deposits
portal tract fibrosis

Metabolic Features:
metabolic acidosis

Skeletal Feet:
talipes calcaneovalgus

Hematology:
severe bleeding after biopsies (uncommon)

Growth Other:
failure to thrive

Skeletal Pelvis:
hip dysplasia

Skin Nails Hair Skin:
ichthyosis
jaundice

Head And Neck Face:
micrognathia
sloping forehead

Skeletal:
arthrogryposis multiplex congenita
fractures at birth

Laboratory Abnormalities:
conjugated hyperbilirubinemia
abnormal liver function tests

Cardiovascular Heart:
atrial septal defects
ventricular septal defects
structural cardiac defects (uncommon)
persistent foramen ovale
right ventricular hypertrophy (reported in 2 sibs)

Immunology:
recurrent febrile illnesses
b and t cell defects (reported in 2 sibs)

Clinical features from OMIM:

208085

UMLS symptoms related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1:


icterus

GenomeRNAi Phenotypes related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Salmonella-containing vacuole maturation GR00133-A-2 8.62 RAB7A VPS39

Drugs & Therapeutics for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

Drugs for Arthrogryposis, Renal Dysfunction, and Cholestasis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1057)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lactulose Approved Phase 4 4618-18-2 11333
2
Fosinopril Approved Phase 4 98048-97-6 55891
3
Capsaicin Approved Phase 4 404-86-4 1548943
4
Digoxin Approved Phase 4 20830-75-5 30322 2724385
5
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
6 fluindione Approved, Investigational Phase 4 957-56-2
7
Dalteparin Approved Phase 4 9005-49-6
8
Darbepoetin alfa Approved, Investigational Phase 4 11096-26-7, 209810-58-2
9
Tinzaparin Approved Phase 4 9005-49-6, 9041-08-1 25244225
10
Argatroban Approved, Investigational Phase 4 74863-84-6 152951
11
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
12
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
13
Insulin glargine Approved Phase 4 160337-95-1
14
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
15
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
16
Telavancin Approved Phase 4 372151-71-8
17 Taurolidine Approved, Investigational Phase 4 19388-87-5
18
Insulin Aspart Approved Phase 4 116094-23-6 16132418
19
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
20
Indapamide Approved Phase 4 26807-65-8 3702
21
Acetaminophen Approved Phase 4 103-90-2 1983
22
Promethazine Approved, Investigational Phase 4 60-87-7 4927
23
alemtuzumab Approved, Investigational Phase 4 216503-57-0
24
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
25
Ramipril Approved Phase 4 87333-19-5 5362129
26
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
27
Nadroparin Approved, Investigational Phase 4
28
Deflazacort Approved, Investigational Phase 4 14484-47-0
29
Olmesartan Approved, Investigational Phase 4 144689-63-4, 144689-24-7 130881 158781
30
Colchicine Approved Phase 4 64-86-8 6167 2833
31
Amlodipine Approved Phase 4 88150-42-9 2162
32
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
33
Nystatin Approved, Vet_approved Phase 4 1400-61-9 11953884
34
Zoledronic Acid Approved Phase 4 118072-93-8 68740
35
Regadenoson Approved, Investigational Phase 4 313348-27-5 219024
36
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
37
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
38
Atenolol Approved Phase 4 29122-68-7 2249
39
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
40
Insulin Lispro Approved Phase 4 133107-64-9
41
Insulin glulisine Approved Phase 4 207748-29-6
42
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
43
Deferiprone Approved Phase 4 30652-11-0 2972
44
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
45
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
46
Dolutegravir Approved Phase 4 1051375-16-6 54726191
47
Donepezil Approved Phase 4 120014-06-4 3152
48
Pantoprazole Approved Phase 4 102625-70-7 4679
49
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
50
Doxazosin Approved Phase 4 74191-85-8 3157

Interventional clinical trials:

(show top 50) (show all 4665)
# Name Status NCT ID Phase Drugs
1 Effect of Hydration With Sodium Bicarbonate for Long-Term Clinical Outcomes in Patients With Chronic Kidney Disease Undergoing an Emergent Coronary Procedure Unknown status NCT00716001 Phase 4 N-acetylcysteine
2 Hemocontrol's Effectiveness in a RAndomized Controlled Trial on the Reduction of Cardiovascular Long-term EventS Unknown status NCT01515878 Phase 4
3 Clinical Trial, Open, Parallel Groups , Value the Antiproteinuric Effects From Vitamin D Derivatives in Patient With Chronic Kidney Illness and the Lack of Vitamin D Unknown status NCT01442272 Phase 4 Hidroferol®;Paricalcitol: Zemplar®;Habitual medication
4 Renal Toxicity of Iodixanol and Iopromide in Patients With Renal Dysfunction—a Multicentre, Single Blind, Randomized Controlled, Prospective Trial Unknown status NCT01580046 Phase 4 iodixanol;iopromide
5 The Effects of AST-120 on Endothelial Dysfunction in Patients With Chronic Kidney Disease Unknown status NCT01157260 Phase 4 Kremezin
6 Pulse Wave Velocity, Pulse Wave Morphology and Blocking of the Reninangiotensin System in Patients With Chronic Kidney Disease: An Interventional and Methodological Study Unknown status NCT00235287 Phase 4 Candesartan and enalapril;candesartan and enalapril;candesartan and enalapril;candesartan and enalapril
7 Open Randomized Phase IV Study on Intravenous Iron in Anemic Patients With Chronic Kidney Disease Unknown status NCT00204256 Phase 4 Iron sucrose
8 Randomized, Open Label, Controlled Clinical Trial of Egg Albumin-Based Protein Supplement Versus Renal Specific Oral Supplement in Hemodialysis Patients Unknown status NCT01981083 Phase 4
9 A Prospective Randomized Controlled Study to Evaluate Feasibility and Safety of Early Steroid Withdrawal After 6mg/kg vs 4.5mg/kg Thymoglobulin Induction Therapy in Kidney Transplantation Unknown status NCT02447822 Phase 4 Thymoglobulin
10 Simvastatin Effect on Endothelium Dependent Venodilation in Chronic Renal Failure Patients Treated by Peritoneal Dialysis Unknown status NCT00291863 Phase 4 Simvastatin
11 NAC in Preventing CIN in CRF Patients Who Need Enhanced CT Scan in ED Unknown status NCT00501475 Phase 4 NAC Bicarbonate
12 A Randomized Comparison of Two Albumin Administration Schedules for Spontaneous Bacterial Peritonitis Unknown status NCT00761098 Phase 4 Standard Care;Experimental
13 Inspiratory Muscle Training in Patients With End Stage Renal Failure: a Randomized Controlled Trial Unknown status NCT01347775 Phase 4
14 Evaluation of Cholecalciferol Supplementation in Chronic Kidney Disease Patients With Restless Leg Syndrome Unknown status NCT03063190 Phase 4 Vitamin D;Placebo Oral Tablet
15 Phase 4 Study of Alprostadil Prevent Contrast Induced Nephropathy in Patients Receiving a Cardiac Catheterization Unknown status NCT01722513 Phase 4 Alprostadil ﹠control
16 A New Anticoagulation Method Using Dalteparin in Quotidian and Nocturnal Home Hemodialysis Patients: A Prospective Study Unknown status NCT02607111 Phase 4 Dalteparin
17 Interstitial Fibrosis in Protocol Biopsies of Renal Allografts: A Prospective, Randomised Trial of Sirolimus Versus Cyclosporine.(Fibrasic) Unknown status NCT00493194 Phase 4 sirolimus;cyclosporine;daclizumab
18 A comParison on Platelet Resistance With Ticagrelor or Standard-Dose Clopidogrel Study Among SeVerE Chronic Kidney Disease/ End-Stage-Renal-Disease Patients With Recent Acute Coronary Syndrome. Unknown status NCT02459288 Phase 4 Clopidogrel first;Ticagrelor first
19 Immunosuppression in Renal Transplantation in The Elderly: Time to Rethink. - nEverOld Study Unknown status NCT01631058 Phase 4 Everolimus
20 Effects of Cholecalciferol on Osteoprotegerin Levels and Other Clinical Outcomes in Chronic Kidney Disease Patients on Peritoneal Dialysis: a Randomized Controlled Trial Unknown status NCT02598635 Phase 4 Cholecalciferol;Placebo
21 Effects of an Exercise Program in Patients With Hypertensive Chronic Kidney Disease: a Randomized Clinical Trial Unknown status NCT01155128 Phase 4
22 A Phase-IV Study Comparing Standard Release Tacrolimus (Prograf) vs Prolonged-release Tacrolimus (Advagraf) Monotherapy as Maintenance Immunosuppression After Induction With Alemtuzumab in Kidney Transplantation Unknown status NCT00807144 Phase 4 Tacrolimus (Kidney transplant maintenance immunosuppression);Kidney transplant maintenance immunosuppression
23 Renoprotection by Combining Pentoxifylline and Angiotensin Blockade in Chronic Kidney Disease Unknown status NCT01377285 Phase 4 ARB;Pentoxifylline;Placebo (for Pentoxifylline)
24 Impact of a Mineralocorticoid Receptor Antagonist on Chronic Histological Changes in Renal Allograft Unknown status NCT01510795 Phase 4 spironolactone
25 A Randomised Controlled Comparison of Campath−Tacrolimus vs IL2R MoAb−Tacrolimus/MMMF in Kidney Transplantation Unknown status NCT00246129 Phase 4 Alemtuzumab;Daclizumab
26 Research of Pure Red Cell Aplasia in Patients With Chronic Kidney Disease and in Use of Epoetin Alfa Produced by Immunobiological Technology Institute (Bio-Manguinhos) From Oswaldo Cruz Foundation (Bio-Manguinhos / Fiocruz) Unknown status NCT02648126 Phase 4
27 The Role of Qutenza (Topical Capsaicin 8%) in Treating Neuropathic Pain From Critical Ischaemia in Patients With End-stage Renal Failure Unknown status NCT01704339 Phase 4 QUTENZA
28 Effect of Vitamin D Supplement on Osteoprotegin Expression and Disease Progression in Patients With Chronic Kidney Disease Stage 1 and 2 Unknown status NCT01561222 Phase 4 Calcitriol;placebo
29 Upstream Use of Aliskiren in Hypertensive Haemodialysis Patients: Effects on Cardiovascular Outcomes Unknown status NCT01635387 Phase 4 aliskiren
30 Preventing Contrast Induced Nephropathy After Transcatheter Aortic Valve Replacement Unknown status NCT03121053 Phase 4 sodium bicarbonate;hypotone saline
31 A Randomized Comparison of Rifaximin Versus Lactulose in Hospitalized Cirrhotic Patients With Progressive Renal Failure Unknown status NCT00748904 Phase 4 Rifaximin;Lactulose
32 Safety and Efficacy of Shenyankangfu Tablets for Chronic Kidney Disease Unknown status NCT02885857 Phase 4 Shenyan Kangfu Tablet
33 Prospective, Clinical Study of the Effect of Bariatric Surgery, Laparoscopic Sleeve Gastrectomy, on the Pharmacokinetics of Immunosuppressive Drugs in the Morbidly Obese, Kidney Transplant Candidate Unknown status NCT01913392 Phase 4
34 Efficacy and Safety of Abelmoschus Manihot for Chronic Kidney Disease:a Multicentre Open Study Unknown status NCT02231138 Phase 4 Abelmoschus manihot (AM)
35 Effect of Valsartan vs Perindopril on HOMA-IR Index in Patients With Chronic Kidney Disease Unknown status NCT02299310 Phase 4 Valsartan;Perindopril
36 Efficacy and Safety of a Double Icodextrin Dose in Elderly Incident CAPD Patients on Incremental Peritoneal Dialysis Therapy: the DIDo Study Unknown status NCT01944852 Phase 4 Icodextrin
37 Randomized Open Clinical Trial to Compare the Effectiveness of the Administration of Diuretics in Hemodialysis Patients With Residual Renal Function in Single Centre Unknown status NCT01977430 Phase 4 Hydrochlorothiazide and furosemide
38 Phase 4 Study of Sarpogrelate That Prevent Contrast-induced Nephropathy Unknown status NCT01165567 Phase 4 sarpogrelate
39 The Association Between Body Composition and Biomarkers in Hemodialysis Patients Unknown status NCT01103167 Phase 4
40 Effect of Aliskiren on Muscle Sympathetic Nerve Activity (MSNA) in Hypertensive Patients With Chronic Kidney Disease Unknown status NCT00719316 Phase 4 Aliskiren
41 Preventive Effect of the PRetreatment With pItavastatiN on Contrast-Induced Nephropathy in Patients With RenaL Dysfunction UndErgoing Coronary Angiography/Intervention (PRINCIPLE-II Study) Unknown status NCT01871792 Phase 4 Pitavastatin;Placebo
42 Phase 4 Study of Oral Calcitriol for Reduction of Mild Proteinuria in Patients With CKD Unknown status NCT01820832 Phase 4 Calcitriol
43 Comparison of the Effects Between Keto-/Amino Acid Supplemented Low Protein Diet and Non-Supplemented Low Protein Diet in Patients With Stage Ⅴ Chronic Kidney Disease Unknown status NCT00364884 Phase 4 ketoaminoacid
44 The Change of Urinary Angiotensinogen Excretion After Valsartan Treatment in Chronic Kidney Diseases Patients With Persistent Proteinuria Unknown status NCT00858299 Phase 4 valsartan
45 Efficacy and Safety of Morning Intake of Simvast Controlled Release (CR) Tablet Versus Evening Intake of Zocor Tablet in Chronic Kidney Disease Stage(CKD)3, 4 and 5 Patients With Hyperlipidemia: A Randomized, Double-blind, Multicenter Phase 4 Trial (HM-SIM4) Unknown status NCT01564875 Phase 4 Simvast CR;Zocor
46 Preventive Strategies of REnal Insufficiency in Patients With Diabetes Undergoing InterVENTion or Arteriography(PREVENT Trial) Unknown status NCT00950079 Phase 4 Sodium bicarbonate;saline
47 A Study Comparing Thymoglobulin to Tacrolimus in Liver Transplant and Impact on Renal Function Unknown status NCT00564538 Phase 4 anti-thymocyte globulin (rabbit);tacrolimus
48 Marinobufagenin as a Target for DIGIBIND in Hypertensive Patients With End-stage Renal Disease Unknown status NCT00852787 Phase 4 Digoxin immune fab;Placebo
49 The Use of Self Retaining Sutures in Open and Laparoscopic Partial Nephrectomy Unknown status NCT01413607 Phase 4
50 Phase 4 Study of Medical Therapy Versus Medical Therapy Plus Renal Artery Stenting in Preventing the Progression of Renal Failure in Atherosclerotic Renovascular Disease Unknown status NCT01023373 Phase 4 Medical treatment

Search NIH Clinical Center for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

Cochrane evidence based reviews: renal insufficiency

Genetic Tests for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

Genetic tests related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1:

# Genetic test Affiliating Genes
1 Arthrogryposis Renal Dysfunction Cholestasis Syndrome 29 VPS33B

Anatomical Context for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

MalaCards organs/tissues related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1:

41
Kidney, Heart, Liver, Bone, Endothelial, Testes, Brain

Publications for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

Articles related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1:

(show top 50) (show all 91)
# Title Authors PMID Year
1
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. 38 8 71
22753090 2012
2
A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth. 38 8 71
17994566 2007
3
Clinical and molecular genetic features of ARC syndrome. 38 8 71
16896922 2006
4
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. 38 8 71
15052268 2004
5
Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. 38 8 71
8151641 1994
6
Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review. 38 8
16155421 2005
7
ARC syndrome: an expanding range of phenotypes. 38 71
11668108 2001
8
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. 71
20190753 2010
9
Arthrogryposis, renal tubular acidosis and cholestasis syndrome: spectrum of the clinical manifestations. 8
17159523 2007
10
Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families. 8
8529684 1995
11
Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant. 8
2231211 1990
12
Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family. 8
2248291 1990
13
Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome. 8
6543856 1984
14
A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease. 8
762621 1979
15
Predictors of failure after conservative treatment of symptomatic partial-thickness rotator cuff tear. 38
31399270 2019
16
CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease. 38
31092635 2019
17
A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival. 38
31240160 2019
18
A Novel VPS33B Mutation Causing a Mild Phenotype of ARC Syndrome. 38
30747815 2019
19
Metabolomics and Lipidomics Reveal the Effect of Hepatic Vps33b Deficiency on Bile Acids and Lipids Metabolism. 38
30967781 2019
20
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome. 38
30561130 2018
21
Identification of genes and signaling pathways associated with arthrogryposis‑renal dysfunction‑cholestasis syndrome using weighted correlation network analysis. 38
30015832 2018
22
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney. 38
30093463 2018
23
Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report. 38
29907094 2018
24
VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function. 38
29409756 2018
25
[Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome]. 38
29046204 2017
26
A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome. 38
28544027 2017
27
Vps33b is crucial for structural and functional hepatocyte polarity. 38
28082148 2017
28
α-granule biogenesis: from disease to discovery. 38
28277061 2017
29
[The complex phenotype of ARC syndrome: A new case]. 38
28007512 2017
30
ARC syndrome. 38
29624233 2017
31
ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination. 38
27496733 2016
32
Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome? 38
26971401 2016
33
Constipation as an Atypical Sign of ARC Syndrome - Case Report. 38
30568833 2016
34
Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis. 38
26808426 2016
35
The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage. 38
26505894 2016
36
Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity. 38
26463206 2015
37
Vps33B is required for delivery of endocytosed cargo to lysosomes. 38
26403612 2015
38
VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes. 38
25947942 2015
39
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome. 38
24917129 2015
40
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. 38
25239142 2014
41
ARC syndrome with high GGT cholestasis caused by VPS33B mutations. 38
24782640 2014
42
Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China. 38
24415890 2014
43
Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes. 38
23918659 2013
44
ARC syndrome in preterm baby. 38
24071963 2013
45
Late endosomal transport and tethering are coupled processes controlled by RILP and the cholesterol sensor ORP1L. 38
23729732 2013
46
Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome. 38
26019847 2013
47
Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report. 38
23622807 2013
48
Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11. 38
24627769 2013
49
The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis. 38
23002115 2012
50
ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus. 38
22805396 2012

Variations for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

ClinVar genetic disease variations for Arthrogryposis, Renal Dysfunction, and Cholestasis 1:

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VPS33B NM_018668.4(VPS33B): c.1130G> C (p.Arg377Pro) single nucleotide variant association rs864622006 15:91548325-91548325 15:91005095-91005095
2 VPS33B NM_018668.4(VPS33B): c.1259_1260CA[1] (p.Gln421fs) short repeat Pathogenic rs398122408 15:91546325-91546326 15:91003095-91003096
3 VPS33B NM_018668.4(VPS33B): c.1498G> T (p.Glu500Ter) single nucleotide variant Pathogenic rs751858602 15:91543803-91543803 15:91000573-91000573
4 VPS33B NM_018668.4(VPS33B): c.1594C> T (p.Arg532Ter) single nucleotide variant Pathogenic rs121434383 15:91543193-91543193 15:90999963-90999963
5 VPS33B NM_018668.4(VPS33B): c.1312C> T (p.Arg438Ter) single nucleotide variant Pathogenic rs121434384 15:91545373-91545373 15:91002143-91002143
6 VPS33B NM_018668.4(VPS33B): c.89T> C (p.Leu30Pro) single nucleotide variant Pathogenic rs121434385 15:91565391-91565391 15:91022161-91022161
7 VPS33B NM_018668.4(VPS33B): c.700+1G> A single nucleotide variant Pathogenic rs794726658 15:91550179-91550179 15:91006949-91006949
8 TSC1 NM_000368.4(TSC1): c.989dup (p.Ser331fs) duplication Pathogenic rs118203478 9:135786880-135786880 9:132911493-132911493
9 VPS33B NM_018668.4(VPS33B): c.240-577_290-156del deletion Pathogenic rs1555460030 15:91557257-91558240 15:91014027-91015010
10 VPS33B NM_018668.4(VPS33B): c.403+2T> A single nucleotide variant Pathogenic rs769333468 15:91553029-91553029 15:91009799-91009799
11 VPS33B NM_018668.4(VPS33B): c.151C> T (p.Arg51Ter) single nucleotide variant Pathogenic 15:91561061-91561061 15:91017831-91017831
12 VIPAS39 NM_001193315.1(VIPAS39): c.20del (p.Asp7fs) deletion Pathogenic 14:77920426-77920426 14:77454083-77454083
13 VIPAS39 NM_001193315.1(VIPAS39): c.1179+1G> A single nucleotide variant Pathogenic 14:77900184-77900184 14:77433841-77433841
14 VPS33B NM_018668.4(VPS33B): c.1225+5G> C single nucleotide variant Pathogenic/Likely pathogenic rs398122407 15:91548102-91548102 15:91004872-91004872
15 INF2 NM_022489.4(INF2): c.658G> A (p.Glu220Lys) single nucleotide variant Pathogenic/Likely pathogenic rs530391015 14:105169782-105169782 14:104703445-104703445
16 VPS33B NM_018668.4(VPS33B): c.498G> C (p.Leu166=) single nucleotide variant Likely pathogenic rs1555459218 15:91551100-91551100 15:91007870-91007870
17 PKD1 NM_001009944.3(PKD1): c.3890_3891insCAC (p.Arg1298_Val1299insThr) insertion Likely pathogenic 16:2161277-2161278 16:2111276-2111277
18 VPS33B NM_018668.4(VPS33B): c.1701C> T (p.Leu567=) single nucleotide variant Conflicting interpretations of pathogenicity rs146999653 15:91542980-91542980 15:90999750-90999750
19 VPS33B NM_018668.4(VPS33B): c.1148T> C (p.Ile383Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149121639 15:91548307-91548307 15:91005077-91005077
20 VPS33B NM_018668.4(VPS33B): c.944G> A (p.Arg315Gln) single nucleotide variant Uncertain significance rs145303578 15:91549010-91549010 15:91005780-91005780
21 VPS33B NM_018668.4(VPS33B): c.*262T> G single nucleotide variant Uncertain significance rs886051554 15:91541943-91541943 15:90998713-90998713
22 VPS33B NM_018668.4(VPS33B): c.1332G> A (p.Thr444=) single nucleotide variant Uncertain significance rs147407982 15:91545353-91545353 15:91002123-91002123
23 VPS33B NM_018668.4(VPS33B): c.868C> T (p.Arg290Trp) single nucleotide variant Uncertain significance rs750350100 15:91549274-91549274 15:91006044-91006044
24 VPS33B NM_018668.4(VPS33B): c.-131G> A single nucleotide variant Uncertain significance rs755401805 15:91565610-91565610 15:91022380-91022380
25 VPS33B NM_018668.4(VPS33B): c.-269T> C single nucleotide variant Uncertain significance rs561174112 15:91565748-91565748 15:91022518-91022518
26 VPS33B NM_018668.4(VPS33B): c.-299T> G single nucleotide variant Uncertain significance rs773762275 15:91565778-91565778 15:91022548-91022548
27 VPS33B NM_018668.4(VPS33B): c.1274G> A (p.Ser425Asn) single nucleotide variant Uncertain significance rs139709507 15:91545411-91545411 15:91002181-91002181
28 VPS33B NM_018668.4(VPS33B): c.404-14C> G single nucleotide variant Uncertain significance rs886051556 15:91551208-91551208 15:91007978-91007978
29 VPS33B NM_018668.4(VPS33B): c.-271A> C single nucleotide variant Uncertain significance rs116461458 15:91565750-91565750 15:91022520-91022520
30 VPS33B NM_018668.4(VPS33B): c.-335C> T single nucleotide variant Uncertain significance rs886051558 15:91565814-91565814 15:91022584-91022584
31 VPS33B NM_018668.4(VPS33B): c.*125C> T single nucleotide variant Uncertain significance rs76401688 15:91542080-91542080 15:90998850-90998850
32 VPS33B NM_018668.4(VPS33B): c.1591C> T (p.Arg531Trp) single nucleotide variant Uncertain significance rs758814929 15:91543196-91543196 15:90999966-90999966
33 VPS33B NM_018668.4(VPS33B): c.1170+5G> A single nucleotide variant Uncertain significance rs201431055 15:91548280-91548280 15:91005050-91005050
34 VPS33B NM_018668.4(VPS33B): c.1685G> A (p.Ser562Asn) single nucleotide variant Uncertain significance rs566630364 15:91542996-91542996 15:90999766-90999766
35 VPS33B NM_018668.4(VPS33B): c.133C> A (p.Leu45Ile) single nucleotide variant Uncertain significance rs199874738 15:91561079-91561079 15:91017849-91017849
36 VPS33B NM_018668.4(VPS33B): c.136A> T (p.Met46Leu) single nucleotide variant Uncertain significance rs202141764 15:91561076-91561076 15:91017846-91017846
37 VPS33B NM_018668.4(VPS33B): c.*155A> G single nucleotide variant Uncertain significance rs886051555 15:91542050-91542050 15:90998820-90998820
38 VPS33B NM_018668.4(VPS33B): c.941G> A (p.Arg314His) single nucleotide variant Uncertain significance rs201698361 15:91549013-91549013 15:91005783-91005783
39 VPS33B NM_018668.4(VPS33B): c.680A> G (p.His227Arg) single nucleotide variant Uncertain significance rs760894269 15:91550200-91550200 15:91006970-91006970
40 VPS33B NM_018668.4(VPS33B): c.-137A> G single nucleotide variant Uncertain significance rs886051557 15:91565616-91565616 15:91022386-91022386
41 VPS33B NM_018668.4(VPS33B): c.609A> G (p.Ala203=) single nucleotide variant Likely benign rs76867988 15:91550271-91550271 15:91007041-91007041
42 VPS33B NM_018668.4(VPS33B): c.363T> C (p.Tyr121=) single nucleotide variant Likely benign rs149733667 15:91553071-91553071 15:91009841-91009841
43 VPS33B NM_018668.4(VPS33B): c.648C> T (p.Gly216=) single nucleotide variant Benign/Likely benign rs59648701 15:91550232-91550232 15:91007002-91007002
44 VPS33B NM_018668.4(VPS33B): c.597C> T (p.Cys199=) single nucleotide variant Benign/Likely benign rs60198611 15:91550705-91550705 15:91007475-91007475
45 VPS33B NM_018668.4(VPS33B): c.240-13_240-12del deletion Benign/Likely benign rs111274092 15:91557675-91557676 15:91014445-91014446
46 VPS33B NM_018668.4(VPS33B): c.151C> A (p.Arg51=) single nucleotide variant Benign/Likely benign rs11542638 15:91561061-91561061 15:91017831-91017831
47 VPS33B NM_018668.4(VPS33B): c.-8C> T single nucleotide variant Benign/Likely benign rs11542639 15:91565487-91565487 15:91022257-91022257
48 VPS33B NM_018668.4(VPS33B): c.1671A> G (p.Glu557=) single nucleotide variant Benign/Likely benign rs148071246 15:91543010-91543010 15:90999780-90999780
49 VPS33B NM_018668.4(VPS33B): c.1656A> T (p.Thr552=) single nucleotide variant Benign/Likely benign rs16945153 15:91543131-91543131 15:90999901-90999901
50 VPS33B NM_018668.4(VPS33B): c.1540G> A (p.Gly514Ser) single nucleotide variant Benign rs11073964 15:91543761-91543761 15:91000531-91000531

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Renal Dysfunction, and Cholestasis 1:

74
# Symbol AA change Variation ID SNP ID
1 VPS33B p.Leu30Pro VAR_018983 rs121434385
2 VPS33B p.Ser243Phe VAR_057901 rs139829189

Expression for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

Search GEO for disease gene expression data for Arthrogryposis, Renal Dysfunction, and Cholestasis 1.

Pathways for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

Pathways related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.77 RAB7A RAB11A
2 10.47 TSC1 RAB7A RAB11A

GO Terms for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

Cellular components related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.93 VPS33B VIPAS39 RAB7A RAB11A ATP8B1
2 cytoplasmic vesicle GO:0031410 9.93 VPS33B VPS33A VPS16 VIPAS39 RAB7A RAB11A
3 perinuclear region of cytoplasm GO:0048471 9.92 VPS33B VPS33A TSC1 RAB11A INF2
4 lysosome GO:0005764 9.88 VPS39 VPS33B VPS33A VPS16 RAB7A
5 lysosomal membrane GO:0005765 9.8 VPS39 VPS33B VPS33A VPS16 RAB7A
6 early endosome GO:0005769 9.77 VPS33B VPS33A VPS16 VIPAS39 TGFBRAP1
7 endosome GO:0005768 9.76 VPS39 VPS33B VPS33A VPS16 VIPAS39 TGFBRAP1
8 recycling endosome GO:0055037 9.73 VPS33B VPS16 VIPAS39 RAB11A
9 clathrin-coated vesicle GO:0030136 9.67 VPS33B VPS33A VPS16
10 late endosome membrane GO:0031902 9.65 VPS39 VPS33B VPS33A VPS16 RAB7A
11 phagocytic vesicle GO:0045335 9.57 RAB7A RAB11A
12 autophagosome GO:0005776 9.55 VPS33A VPS16
13 late endosome GO:0005770 9.43 VPS39 VPS33B VPS33A VPS16 VIPAS39 RAB7A
14 AP-3 adaptor complex GO:0030123 9.32 VPS39 VPS33A
15 clathrin complex GO:0071439 9.21 VPS33A
16 HOPS complex GO:0030897 9.02 VPS39 VPS33B VPS33A VPS16 VIPAS39
17 cytoplasm GO:0005737 10.21 VPS39 VPS33B VPS16 VIPAS39 TSC1 TGFBRAP1

Biological processes related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.73 VPS39 VPS16 VIPAS39 TGFBRAP1 RAB7A RAB11A
2 vesicle-mediated transport GO:0016192 9.72 VPS39 VPS33B VPS33A TGFBRAP1 RAB11A
3 autophagy GO:0006914 9.67 VPS39 VPS33A VPS16 RAB7A
4 protein transport GO:0015031 9.56 VPS39 VPS33B VPS33A VPS16 VIPAS39 TGFBRAP1
5 vesicle docking involved in exocytosis GO:0006904 9.52 VPS33B VPS33A
6 lysosome localization GO:0032418 9.51 VPS33B VPS33A
7 platelet formation GO:0030220 9.49 VPS33A NBEAL2
8 collagen metabolic process GO:0032963 9.48 VPS33B VIPAS39
9 endosomal vesicle fusion GO:0034058 9.46 VPS39 TGFBRAP1
10 autophagosome maturation GO:0097352 9.46 VPS33B VPS33A VPS16 VIPAS39
11 peptidyl-lysine hydroxylation GO:0017185 9.43 VPS33B VIPAS39
12 melanosome localization GO:0032400 9.4 VPS33B VPS33A
13 endosome to lysosome transport GO:0008333 9.17 VPS39 VPS33B VPS33A VPS16 VIPAS39 TGFBRAP1

Sources for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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