ARCS1
MCID: ART062
MIFTS: 68

Arthrogryposis, Renal Dysfunction, and Cholestasis 1 (ARCS1)

Categories: Blood diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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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 11 28 12 5 14
Arc Syndrome 57 11 19 58 75 73 14
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 19 75 71
Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome 19 58 75
Arcs1 57 11 73
Arcs 57 73
Arthrogryposis Multiplex Congenita, Renal Dysfunction, and Cholestasis 19
Arthrogryposis with Renal Dysfunction and Cholestasis Syndrome 5
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 11
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 1 73
Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1 38
Arthrogryposis, Renal Dysfunction, and Cholestasis 11
Arthrogryposis Renal Dysfunction and Cholestasis 1 73
Arthrogryposis - Renal Dysfunction - Cholestasis 19
Arthrogryposis-Renal Dysfunction-Cholestasis 11
Renal Insufficiency 71
Kidney Failure 71

Characteristics:


Inheritance:

Arthrogryposis, Renal Dysfunction, and Cholestasis 1: Autosomal recessive 57
Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: Autosomal recessive 58

Prevelance:

Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: Neonatal 58

Age Of Death:

Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: infantile 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
death in infancy, usually from sepsis, dehydration, or acidosis


Classifications:

Orphanet: 58  
Rare hepatic diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

OMIM®: 57 Arthrogryposis, renal dysfunction, and cholestasis-1 (ARCS1) is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis with low GGT (612346) activity, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life (Gissen et al., 2006; Smith et al., 2012). Another form of arthrogryposis, renal dysfunction, and cholestasis, ARCS2 (613404), is caused by mutation in the VIPAR gene on chromosome 14q24 (613401). (208085) (Updated 24-Oct-2022)

MalaCards based summary: Arthrogryposis, Renal Dysfunction, and Cholestasis 1, also known as arc syndrome, is related to arthrogryposis, renal dysfunction, and cholestasis 2 and mcdonough syndrome, 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 Metabolism of proteins and Signaling by WNT. The drugs Abacavir and Leflunomide have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone marrow, and related phenotypes are nephrogenic diabetes insipidus and lissencephaly

Disease Ontology 11 Arthrogryposis, renal dysfunction, and cholestasis 1: An arthrogryposis, renal dysfunction, and cholestasis that has material basis in homozygous or compound heterozygous mutation in VPS33B on 15q26.1.

Arc syndrome: 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.

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

Orphanet: 58 A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

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

Arthrogryposis renal dysfunction cholestasis syndrome: Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives... more...

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 116)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, renal dysfunction, and cholestasis 2 31.3 VPS33B VIPAS39 USP25 TNKS2 TNKS BABAM1
2 mcdonough syndrome 11.1
3 neurodegeneration with brain iron accumulation 2a 10.4
4 ichthyosis 10.3
5 hypotonia 10.3
6 orbital disease 10.2
7 corpus callosum, agenesis of 10.2
8 ataxia with vitamin e deficiency 10.2
9 cholestasis, progressive familial intrahepatic, 12 10.2
10 renal tubular acidosis 10.2
11 fanconi syndrome 10.1
12 achard syndrome 10.1 SH3BP2 FBN1
13 vertical talus, congenital 10.1
14 clubfoot 10.1
15 neuromuscular disease 10.1
16 central diabetes insipidus 10.1
17 nephrogenic diabetes insipidus 10.1
18 diabetes insipidus 10.1
19 autosomal recessive cerebellar ataxia 10.1
20 arthrogryposis, distal, type 1a 10.1
21 obstructive jaundice 10.1
22 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.0 VPS33B VIPAS39
23 fanconi renotubular syndrome 1 10.0
24 blood platelet disease 10.0
25 atp8b1 deficiency 10.0
26 central nervous system malformation 10.0
27 multiple sclerosis 10.0
28 mesothelioma, malignant 10.0
29 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
30 laron syndrome 10.0
31 nasopharyngeal carcinoma 10.0
32 global developmental delay, lung cysts, overgrowth, and wilms tumor 10.0
33 head and neck cancer 10.0
34 brain cancer 10.0
35 optic nerve disease 10.0
36 gastric antral vascular ectasia 10.0
37 benign mesothelioma 10.0
38 malignant pleural mesothelioma 10.0
39 keratoconjunctivitis 10.0
40 distal arthrogryposis 9.9
41 metabolic acidosis 9.9
42 body dysmorphic disorder 9.9
43 cholestasis 9.9
44 conjunctivitis 9.9
45 posttransplant acute limbic encephalitis 9.9
46 gray platelet syndrome 9.9
47 dubin-johnson syndrome 9.9
48 intrahepatic cholestasis 9.9
49 bilirubin metabolic disorder 9.9
50 aminoaciduria 9.9

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:

30 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrogenic diabetes insipidus 30 Occasional (7.5%) HP:0009806
2 lissencephaly 30 Occasional (7.5%) HP:0001339
3 hearing impairment 30 Very rare (1%) HP:0000365
4 aminoaciduria 30 Very rare (1%) HP:0003355
5 thrombocytopenia 30 Very rare (1%) HP:0001873
6 jaundice 30 Very rare (1%) HP:0000952
7 nephrocalcinosis 30 Very rare (1%) HP:0000121
8 ventricular septal defect 30 Very rare (1%) HP:0001629
9 arthrogryposis multiplex congenita 30 Very rare (1%) HP:0002804
10 abnormal bleeding 30 Very rare (1%) HP:0001892
11 oligohydramnios 30 Very rare (1%) HP:0001562
12 small for gestational age 30 Very rare (1%) HP:0001518
13 conjugated hyperbilirubinemia 30 Very rare (1%) HP:0002908
14 renal tubular acidosis 30 Very rare (1%) HP:0001947
15 intrahepatic biliary atresia 30 Very rare (1%) HP:0005248
16 patent foramen ovale 30 Very rare (1%) HP:0001655
17 renal tubular atrophy 30 Very rare (1%) HP:0000092
18 reduced renal corticomedullary differentiation 30 Very rare (1%) HP:0005565
19 giant cell hepatitis 30 Very rare (1%) HP:0200084
20 failure to thrive 30 HP:0001508
21 global developmental delay 30 HP:0001263
22 hip dysplasia 30 HP:0001385
23 microcephaly 30 HP:0000252
24 ichthyosis 30 HP:0008064
25 nephropathy 30 HP:0000112
26 dehydration 30 HP:0001944
27 micrognathia 30 HP:0000347
28 low-set ears 30 HP:0000369
29 elevated hepatic transaminase 30 HP:0002910
30 atrial septal defect 30 HP:0001631
31 cholestatic liver disease 30 HP:0002611
32 sloping forehead 30 HP:0000340
33 metabolic acidosis 30 HP:0001942
34 generalized hypotonia 30 HP:0001290
35 talipes calcaneovalgus 30 HP:0001884
36 right ventricular hypertrophy 30 HP:0001667
37 hypotonia 30 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Growth Other:
failure to thrive

Skeletal Pelvis:
hip dysplasia

Skin Nails Hair Skin:
ichthyosis
jaundice

Laboratory Abnormalities:
aminoaciduria
conjugated hyperbilirubinemia
glycosuria
abnormal liver function tests

Head And Neck Ears:
low-set ears
hearing loss, sensorineural (in some patients)

Hematology:
abnormal platelet morphology
thrombocytopenia (in some patients)
severe bleeding after biopsies (uncommon)
abnormal platelet function studies

Metabolic Features:
metabolic acidosis

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

Neurologic Central Nervous System:
global developmental delay
hypotonia
corpus callosum dysgenesis (in some patients)
lissencephaly (reported in 1 patient)

Head And Neck Head:
microcephaly

Genitourinary Kidneys:
nephropathy
nephrocalcinosis
renal tubular acidosis
fanconi syndrome
poor corticomedullary differentiation
more
Head And Neck Face:
micrognathia
sloping forehead

Abdomen Liver:
cholestatic liver disease
giant cell hepatitis
bile duct abnormalities (paucity, proliferation)
pigmentary deposits
portal tract fibrosis

Skeletal:
arthrogryposis multiplex congenita
fractures at birth

Skeletal Feet:
talipes calcaneovalgus

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

Clinical features from OMIM®:

208085 (Updated 24-Oct-2022)

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 ADPRH ADPRS AXIN1 BABAM1 FBN1 LNPEP
2 no effect GR00402-S-2 10.13 ADPRS AXIN1 LNPEP OARD1 PARP11 RAB11A

MGI Mouse Phenotypes related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 ADPRS BABAM1 FBN1 LNPEP PARP11 RAB11A
2 cellular MP:0005384 9.7 AXIN1 BABAM1 FBN1 PARP11 RAB11A RNF146
3 skeleton MP:0005390 9.28 ADPRS AXIN1 FBN1 RNF146 SH3BP2 TNKS

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 946)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abacavir Approved, Investigational Phase 4 136470-78-5, 188062-50-2 441300
2
Leflunomide Approved, Investigational Phase 4 75706-12-6 3899
3
Fosinopril Approved Phase 4 98048-97-6 55891 9601226
4
Alprostadil Approved, Investigational Phase 4 745-65-3 5280723
5
Capsaicin Approved Phase 4 404-86-4 1548943
6
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
7
Digoxin Approved Phase 4 20830-75-5 3062 2724385 30322
8
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
9
Minocycline Approved, Investigational Phase 4 10118-90-8, 13614-98-7 54675783 5281021
10
Acetylcysteine Approved, Investigational Phase 4 616-91-1 581 12035
11
Darbepoetin alfa Approved, Investigational Phase 4 209810-58-2
12
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
13
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
14
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
15
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
16
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
17
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
18
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
19
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5282411
20
Cinacalcet Approved Phase 4 226256-56-0 156419
21
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
22
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
23
Basiliximab Approved, Investigational Phase 4 179045-86-4
24
Linagliptin Approved Phase 4 668270-12-0 57389748 10096344
25
Simvastatin Approved Phase 4 79902-63-9 54454
26
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
27
Indapamide Approved Phase 4 26807-65-8 3702
28
Ribavirin Approved Phase 4 36791-04-5 37542
29
Pitavastatin Approved Phase 4 147511-69-1 5282452
30
Insulin glulisine Approved Phase 4 207748-29-6
31
Levetiracetam Approved Phase 4 102767-28-2 441341 5284583
32
Bisoprolol Approved Phase 4 66722-44-9 2405
33
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
34
Alendronic acid Approved Phase 4 121268-17-5, 66376-36-1 2088
35
Magnesium oxide Approved Phase 4 1309-48-4 14792
36
Ibuprofen Approved Phase 4 15687-27-1 3672
37
Captopril Approved Phase 4 62571-86-2 44093
38
Lactitol Approved, Investigational Phase 4 585-86-4, 585-88-6 157355 493591
39
Nifedipine Approved Phase 4 21829-25-4 4485
40
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
41
Alemtuzumab Approved, Investigational Phase 4 216503-57-0
42
Olmesartan Approved, Investigational Phase 4 144689-63-4, 144689-24-7 158781 130881
43
Insulin aspart Approved Phase 4 116094-23-6 16132418
44
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
45
Desflurane Approved Phase 4 57041-67-5 42113
46
Remifentanil Approved Phase 4 132875-61-7 60815
47
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
48
Deferiprone Approved Phase 4 30652-11-0 2972
49
Regadenoson Approved, Investigational Phase 4 313348-27-5 22451303 219024
50
Amiloride Approved Phase 4 17440-83-4, 2016-88-8, 2609-46-3 16231

Interventional clinical trials:

(show top 50) (show all 4716)
# Name Status NCT ID Phase Drugs
1 Switching to Tenofovir Alafenamide Fumarate or Abacavir in Patients With Tenofovir Disoproxil Fumarate Associated eGFR Decline. A Randomized Trial. Unknown status NCT02957864 Phase 4 tenofovir alafenamide;abacavir
2 The Effects of AST-120 on Endothelial Dysfunction in Patients With Chronic Kidney Disease Unknown status NCT01157260 Phase 4 Kremezin
3 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
4 A Randomized, Controlled Trial to Evaluate Leflunomide Plus Low Dose Corticosteroid Therapy in Progressive IgA Nephropathy With Renal Insufficiency Unknown status NCT04020328 Phase 4 Leflunomide 20 mg+prednisone 0.5mg/kg/d
5 Open Randomized Phase IV Study on Intravenous Iron in Anemic Patients With Chronic Kidney Disease Unknown status NCT00204256 Phase 4 Iron sucrose
6 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
7 Inspiratory Muscle Training in Patients With End Stage Renal Failure: a Randomized Controlled Trial Unknown status NCT01347775 Phase 4
8 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
9 Gut-kidney Axis: Renal Effects of Meditarranean Diet and Low-protein Diet With Ketoacids to Restore Physiological Intestinal Mibrobiota in Chronic Kidney Disease Unknown status NCT02302287 Phase 4
10 the Effect of Calcium Dobesilate on Non Dialysis Patients With Chronic Renal Failure Unknown status NCT03427944 Phase 4 Calcium Dobesilate group;Conventional Treatment group
11 A Randomised Open Label, Blinded End Point Trial to Compare the Effects of Spironolactone With Chlortalidone on LV Mass in Stage 3 Chronic Kidney Disease (SPIRO-CKD) Unknown status NCT02502981 Phase 4 Spironolactone;Chlortalidone
12 Preventive Strategies of REnal Insufficiency in Patients With Diabetes Undergoing InterVENTion or Arteriography(PREVENT Trial) Unknown status NCT00950079 Phase 4 Sodium bicarbonate;saline
13 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
14 Renal Effects of Levosimendan in Patients Admitted With Acute Decompensated Heart Failure Unknown status NCT00527059 Phase 4 Levosimendan in addition to standard therapy;spironolactone, beta-blockers,ecc
15 Phase 4 Study of Alprostadil Prevent Contrast Induced Nephropathy in Patients Receiving a Cardiac Catheterization Unknown status NCT01722513 Phase 4 Alprostadil ﹠control
16 Comparative Effecacy of Metformin and Vildagliptin on Cardiometabolic Risk Factors, Metabolic Syndrome, and Diabetic Nephropathy Progression Unknown status NCT04485845 Phase 4 Vildagliptin;Captopril Tablets;MetFORMIN 500 Mg Oral Tablet
17 Effects of an Exercise Program in Patients With Hypertensive Chronic Kidney Disease: a Randomized Clinical Trial Unknown status NCT01155128 Phase 4
18 Renoprotection by Combining Pentoxifylline and Angiotensin Blockade in Chronic Kidney Disease Unknown status NCT01377285 Phase 4 ARB;Pentoxifylline;Placebo (for Pentoxifylline)
19 Phase IV Study for Efficacy and Safety of Evolocumab Added to Ezetimibe (Standard of Care) in High Cardiovascular Risk Haemodialized Statin Intolerant Patients With Hypercholesterolemia Unknown status NCT04397653 Phase 4 Evolocumab;Placebo;Ezetimibe
20 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
21 Safety and Efficacy of Shenyankangfu Tablets for Chronic Kidney Disease Unknown status NCT02885857 Phase 4 Shenyan Kangfu Tablet
22 Assessment of the Effects of the Combination of Spironolactone to Conventional Pharmacotherapy in Dialysis Patients Unknown status NCT01128101 Phase 4 Spironolactone
23 Phase 4 Study of Sarpogrelate That Prevent Contrast-induced Nephropathy Unknown status NCT01165567 Phase 4 sarpogrelate
24 Lipid-lowering Regimes Improve Oxidative Stress, Tryptophan Degradation in Hypercholesterolemia Chronic Kidney Disease Patients Unknown status NCT03543774 Phase 4 Simvastatin 40mg;Ezetimibe/simvastatin 10/20 mg/day;Ezetimibe/simvastatin 10/40 mg/day
25 Intradialytic Exercise for Enhanced Dialysis Adequacy and Solute Removal in Chronic Kidney Disease Patients: A Randomised Controlled Trial. Unknown status NCT01481688 Phase 4
26 COmparison of the Pharmacodynamics and Pharmacokinetics of Ticagrelor Versus Clopidogrel in Patients With Chronic Kidney Disease and Non-ST-Elevation Acute Coronary Syndromes(OPT-CKD Trial) Unknown status NCT02578537 Phase 4 Ticagrelor;Clopidogrel
27 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
28 Hemocontrol's Effectiveness in a RAndomized Controlled Trial on the Reduction of Cardiovascular Long-term EventS Unknown status NCT01515878 Phase 4
29 Impact of a Mineralocorticoid Receptor Antagonist on Chronic Histological Changes in Renal Allograft Unknown status NCT01510795 Phase 4 spironolactone
30 Effect of Aliskiren on Muscle Sympathetic Nerve Activity (MSNA) in Hypertensive Patients With Chronic Kidney Disease Unknown status NCT00719316 Phase 4 Aliskiren
31 Safety and Efficacy of Polyclonal Antibodies in Simultaneous Pancreas Kidney Transplant Recipients: Single-centre, Prospective, Observational Study Unknown status NCT03470961 Phase 4 Anti-Tlymphocyte Globulins;Anti-Thymocyte Globulins
32 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
33 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
34 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
35 Evaluation of Nail Fold Microcirculation and Interventional Therapy in Patients With Chronic Renal Failure Unknown status NCT03682952 Phase 4 Alprostadil Injection;Beraprost sodium tablets
36 Effect of Sodium Glucose co Transporter 2 (SGLT2) Inhibition on Optical Coherence Tomography Angiography (OCT-A) Parameters in Diabetic Chronic Kidney Disease (CKD) Unknown status NCT04215445 Phase 4 Empagliflozin 25 MG
37 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
38 Efficacy and Safety of Jinshuibao for Patients With Chronic Kidney Disease Due to Glomerulonephritis:A Multicenter Randomized Controlled Clinical Trial Unknown status NCT04349683 Phase 4 Jinshuibao;Placebo
39 Efficacy and Safety of Abelmoschus Manihot for Chronic Kidney Disease:a Multicentre Open Study Unknown status NCT02231138 Phase 4 Abelmoschus manihot (AM)
40 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
41 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
42 Simvastatin Effect on Endothelium Dependent Venodilation in Chronic Renal Failure Patients Treated by Peritoneal Dialysis Unknown status NCT00291863 Phase 4 Simvastatin
43 Influence of Vitamin K2 Administration on Vessel Calcification Markers in Patients With Chronic Kidney Disease Unknown status NCT01101698 Phase 4 Vitamin K2+10μg cholecalciferol;Vitamin D
44 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
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 The Change of Urinary Angiotensinogen Excretion After Valsartan Treatment in Chronic Kidney Diseases Patients With Persistent Proteinuria Unknown status NCT00858299 Phase 4 valsartan
47 The Immunogenicity and Safety of the Seasonal Influenza Vaccine, Formulation 2013-2014, in Chronic Kidney Disease Patients Not on Dialysis Unknown status NCT02105519 Phase 4
48 Pentoxifylline Effect on Renal Function, Oxidative Stress, Inflammation, and Fibrosis Markers, and Quality of Life in Patients With Diabetic Nephropathy Unknown status NCT03664414 Phase 4 pentoxifylline
49 Fast-track in Endovascular Aortic Aneurysm Repair With Desflurane and Sevoflurane: a Randomized Clinical Trial Unknown status NCT03917186 Phase 4 Sevoflurane;Desflurane
50 Comparison of Efficacy and Safety Between Benidipine and Hydrochlorothiazide in Fosinopril Treated Chronic Kidney Disease Patients With Hypertension: a Randomized Controlled Trial Unknown status NCT02646397 Phase 4 Fosinopril;Benidipine;Hydrochlorothiazide

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

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, and Cholestasis 1 28 VPS33B

Anatomical Context for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

MalaCards : Kidney, Liver, Bone Marrow, Skin, Heart, Bone, Endothelial
ODiseA: Blood And Bone Marrow, Liver

Publications for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

(show top 50) (show all 3591)
# Title Authors PMID Year
1
Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome. 62 57 5
31479177 2019
2
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. 62 57 5
22753090 2012
3
A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth. 62 57 5
17994566 2007
4
Clinical and molecular genetic features of ARC syndrome. 62 57 5
16896922 2006
5
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. 62 57 5
15052268 2004
6
Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. 62 57 5
8151641 1994
7
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome. 62 5
24917129 2015
8
ARC syndrome with high GGT cholestasis caused by VPS33B mutations. 62 5
24782640 2014
9
Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome. 62 5
21851503 2011
10
Clinical characteristics and VPS33B mutations in patients with ARC syndrome. 62 5
19274792 2009
11
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. 62 5
18853461 2009
12
VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. 62 57
16492441 2006
13
Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review. 62 57
16155421 2005
14
ARC syndrome: an expanding range of phenotypes. 62 5
11668108 2001
15
Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families. 62 57
8529684 1995
16
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 5
31319225 2019
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Arthrogryposis, renal tubular acidosis and cholestasis syndrome: spectrum of the clinical manifestations. 57
17159523 2007
18
Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant. 57
2231211 1990
19
Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family. 57
2248291 1990
20
Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome. 57
6543856 1984
21
A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease. 57
762621 1979
22
Rodent Model of Brain Radionecrosis Using Clinical LINAC-Based Stereotactic Radiosurgery. 62
36060637 2022
23
Elimination of irreducible intercalary fragment and fixation using locking plate for Mayo type IIB olecranon fracture-outcomes compared with type IIA. 62
34414491 2022
24
Machine learning-based automated planning for hippocampal avoidance prophylactic cranial irradiation. 62
36194382 2022
25
The Color of Child Protection in America: Antiracism and Abolition in Child Mental Health. 62
36182219 2022
26
Radiation-driven acceleration in the expanding WR140 dust shell. 62
36224416 2022
27
Genome-Wide Repertoire of Transfer RNA-Derived Fragments in a Mouse Model of Age-Related Cataract. 62
35930684 2022
28
Why We Swab: A library of stories in stem cell donation. 62
36062961 2022
29
Prediction and classification of VMAT dosimetric accuracy using plan complexity and log-files analysis. 62
36252524 2022
30
Novel approach for evaluation of dose conformity in radiotherapy. 62
36272439 2022
31
Development of a numerical model for sector-average plume gamma dose and its validation with dose rate measurements at Kalpakkam NPP site, India. 62
36265399 2022
32
Ulnar shortening osteotomy for posttraumatic ulnar impaction syndrome in adolescent (younger than 18 years) - Based on the Cha & Shin assessment. 62
36243581 2022
33
Geometric Predictors of Knotted and Linked Arcs. 62
36254317 2022
34
Study on blended teaching mode and its application based on the ARCS motivational model: Taking bioinformatics course as an example. 62
36221395 2022
35
Conjugates of adenosine mimetics and arginine-rich peptides serve as inhibitors and fluorescent probes but not as long-lifetime photoluminescent probes for protein arginine methyltransferases. 62
36208424 2022
36
The effects of neonatal resuscitation gamification program using immersive virtual reality: A quasi-experimental study. 62
35914345 2022
37
Movable triple points and Dirac points in centrosymmetric AB2 (A = Cr, Mo; B = Si, Ge) compounds. 62
36250242 2022
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Quantifying the Spinal Lordosis Ratio Unique to the Type of Spinal Sagittal Alignment in a Normal Population. 62
36207768 2022
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Forest-Based Networks. 62
36107279 2022
40
Flipped classroom: motivational affordances of spherical video-based immersive virtual reality in support of pre-lecture individual learning in pre-service teacher education. 62
36091926 2022
41
Dosimetric comparison between VMAT plans using the fast-rotating O-ring linac with dual-layer stacked MLC and helical tomotherapy for nasopharyngeal carcinoma. 62
36096874 2022
42
Porous but Mechanically Robust All-Inorganic Antireflective Coatings Synthesized using Polymers of Intrinsic Microporosity. 62
36049118 2022
43
First experimental demonstration of VMAT combined with MLC tracking for single and multi fraction lung SBRT on an MR-linac. 62
35817325 2022
44
Characterization of the amidoxime reducing components ARC1 and ARC2 from Arabidopsis thaliana. 62
35366369 2022
45
Corneal nerves and their role in dry eye pathophysiology. 62
35850173 2022
46
Bioapatite in shark centra studied by wide-angle and by small-angle X-ray scattering. 62
36128705 2022
47
Monosynaptic facilitation of flexor digitorum superficialis motoneurons mediated by Group Ia afferents from the extensor carpi radialis in humans. 62
35902884 2022
48
Distinct-Cluster Tree-Child Phylogenetic Networks and Possible Uses to Study Polyploidy. 62
36123552 2022
49
Automated multi-criterial planning with beam angle optimization to establish non-coplanar VMAT class solutions for nasopharyngeal carcinoma. 62
35853387 2022
50
Spanning Fermi arcs in a two-dimensional magnet. 62
36085323 2022

Variations for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

5 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VPS33B NM_018668.5(VPS33B):c.1130G>C (p.Arg377Pro) SNV Association
219373 rs864622006 GRCh37: 15:91548325-91548325
GRCh38: 15:91005095-91005095
2 VPS33B NM_018668.5(VPS33B):c.1594C>T (p.Arg532Ter) SNV Pathogenic
2201 rs121434383 GRCh37: 15:91543193-91543193
GRCh38: 15:90999963-90999963
3 VPS33B NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter) SNV Pathogenic
2202 rs121434384 GRCh37: 15:91545373-91545373
GRCh38: 15:91002143-91002143
4 VPS33B NM_018668.5(VPS33B):c.89T>C (p.Leu30Pro) SNV Pathogenic
2203 rs121434385 GRCh37: 15:91565391-91565391
GRCh38: 15:91022161-91022161
5 VPS33B NM_018668.5(VPS33B):c.700+1G>A SNV Pathogenic
2204 rs794726658 GRCh37: 15:91550179-91550179
GRCh38: 15:91006949-91006949
6 VPS33B NM_018668.5(VPS33B):c.240-577_290-156del DEL Pathogenic
88857 rs1555460030 GRCh37: 15:91557257-91558240
GRCh38: 15:91014027-91015010
7 VPS33B NM_018668.5(VPS33B):c.1261_1262del (p.Gln421fs) MICROSAT Pathogenic
88859 rs398122408 GRCh37: 15:91546325-91546326
GRCh38: 15:91003095-91003096
8 VIPAS39 NM_001193315.2(VIPAS39):c.20del (p.Asp7fs) DEL Pathogenic
635326 rs1594929571 GRCh37: 14:77920426-77920426
GRCh38: 14:77454083-77454083
9 VIPAS39 NM_001193315.2(VIPAS39):c.1179+1G>A SNV Pathogenic
635327 rs1594895847 GRCh37: 14:77900184-77900184
GRCh38: 14:77433841-77433841
10 VPS33B NM_018668.5(VPS33B):c.319C>T (p.Arg107Ter) SNV Pathogenic
375326 rs1057519063 GRCh37: 15:91557072-91557072
GRCh38: 15:91013842-91013842
11 VPS33B NM_018668.5(VPS33B):c.350del (p.Pro117fs) DEL Pathogenic
523950 rs1555459968 GRCh37: 15:91557041-91557041
GRCh38: 15:91013811-91013811
12 VPS33B NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter) SNV Pathogenic
1323756 GRCh37: 15:91557626-91557626
GRCh38: 15:91014396-91014396
13 FBN1 NM_000138.5(FBN1):c.3589+1G>A SNV Pathogenic
1332759 GRCh37: 15:48779271-48779271
GRCh38: 15:48487074-48487074
14 VPS33B NM_018668.5(VPS33B):c.151C>T (p.Arg51Ter) SNV Pathogenic
Benign
587506 rs11542638 GRCh37: 15:91561061-91561061
GRCh38: 15:91017831-91017831
15 VPS33B NM_018668.5(VPS33B):c.1519C>T (p.Arg507Ter) SNV Pathogenic
1686295 GRCh37: 15:91543782-91543782
GRCh38: 15:91000552-91000552
16 VPS33B NM_018668.5(VPS33B):c.84T>A (p.Tyr28Ter) SNV Pathogenic
1686296 GRCh37: 15:91565396-91565396
GRCh38: 15:91022166-91022166
17 VPS33B NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter) SNV Pathogenic
437260 rs751858602 GRCh37: 15:91543803-91543803
GRCh38: 15:91000573-91000573
18 VPS33B NM_018668.5(VPS33B):c.67C>T (p.Arg23Ter) SNV Pathogenic
1526045 GRCh37: 15:91565413-91565413
GRCh38: 15:91022183-91022183
19 VPS33B NM_018668.5(VPS33B):c.403+2T>A SNV Pathogenic
317430 rs769333468 GRCh37: 15:91553029-91553029
GRCh38: 15:91009799-91009799
20 VPS33B NM_018668.5(VPS33B):c.1726T>C (p.Cys576Arg) SNV Pathogenic
694284 rs1596348299 GRCh37: 15:91542955-91542955
GRCh38: 15:90999725-90999725
21 VPS33B NM_018668.5(VPS33B):c.1509dup (p.Lys504fs) DUP Pathogenic
1526115 GRCh37: 15:91543791-91543792
GRCh38: 15:91000561-91000562
22 VPS33B NM_018668.5(VPS33B):c.1225+5G>C SNV Pathogenic
88858 rs398122407 GRCh37: 15:91548102-91548102
GRCh38: 15:91004872-91004872
23 VPS33B NM_018668.5(VPS33B):c.239+5G>A SNV Likely Pathogenic
500160 rs372769808 GRCh37: 15:91560188-91560188
GRCh38: 15:91016958-91016958
24 VPS33B NM_018668.5(VPS33B):c.621G>A (p.Trp207Ter) SNV Likely Pathogenic
1706608 GRCh37: 15:91550259-91550259
GRCh38: 15:91007029-91007029
25 VPS33B NM_018668.5(VPS33B):c.1602G>A (p.Trp534Ter) SNV Likely Pathogenic
1526210 GRCh37: 15:91543185-91543185
GRCh38: 15:90999955-90999955
26 VPS33B NM_018668.5(VPS33B):c.498+4A>G SNV Likely Pathogenic
1332793 GRCh37: 15:91551096-91551096
GRCh38: 15:91007866-91007866
27 VPS33B NM_018668.5(VPS33B):c.498G>C (p.Leu166=) SNV Likely Pathogenic
522443 rs1555459218 GRCh37: 15:91551100-91551100
GRCh38: 15:91007870-91007870
28 VPS33B NM_018668.5(VPS33B):c.558_559del (p.Tyr187fs) MICROSAT Likely Pathogenic
627537 rs1596358564 GRCh37: 15:91550743-91550744
GRCh38: 15:91007513-91007514
29 VPS33B NM_018668.5(VPS33B):c.*261T>A SNV Uncertain Significance
884571 rs1046418367 GRCh37: 15:91541944-91541944
GRCh38: 15:90998714-90998714
30 VPS33B NM_018668.5(VPS33B):c.888T>C (p.Asn296=) SNV Uncertain Significance
884630 rs762443300 GRCh37: 15:91549254-91549254
GRCh38: 15:91006024-91006024
31 VPS33B NM_018668.5(VPS33B):c.662G>A (p.Arg221Gln) SNV Uncertain Significance
502334 rs377754864 GRCh37: 15:91550218-91550218
GRCh38: 15:91006988-91006988
32 VPS33B NM_018668.5(VPS33B):c.-120G>A SNV Uncertain Significance
886598 rs2041131003 GRCh37: 15:91565599-91565599
GRCh38: 15:91022369-91022369
33 VPS33B NM_018668.5(VPS33B):c.1165C>T (p.Arg389Trp) SNV Uncertain Significance
887775 rs778274271 GRCh37: 15:91548290-91548290
GRCh38: 15:91005060-91005060
34 VPS33B NM_018668.5(VPS33B):c.1105+10G>A SNV Uncertain Significance
500757 rs370555380 GRCh37: 15:91548600-91548600
GRCh38: 15:91005370-91005370
35 VPS33B NM_018668.5(VPS33B):c.916C>T (p.Arg306Trp) SNV Uncertain Significance
887776 rs142949901 GRCh37: 15:91549226-91549226
GRCh38: 15:91005996-91005996
36 VPS33B NM_018668.5(VPS33B):c.-275C>G SNV Uncertain Significance
887851 rs934677403 GRCh37: 15:91565754-91565754
GRCh38: 15:91022524-91022524
37 VPS33B NM_018668.5(VPS33B):c.*113G>A SNV Uncertain Significance
885502 rs539260496 GRCh37: 15:91542092-91542092
GRCh38: 15:90998862-90998862
38 VPS33B NM_018668.5(VPS33B):c.*10C>T SNV Uncertain Significance
885503 rs759825013 GRCh37: 15:91542195-91542195
GRCh38: 15:90998965-90998965
39 VPS33B NM_018668.5(VPS33B):c.1775-14A>G SNV Uncertain Significance
885504 rs374202621 GRCh37: 15:91542298-91542298
GRCh38: 15:90999068-90999068
40 VPS33B NM_018668.5(VPS33B):c.1719G>C (p.Leu573Phe) SNV Uncertain Significance
885505 rs2040379043 GRCh37: 15:91542962-91542962
GRCh38: 15:90999732-90999732
41 VPS33B NM_018668.5(VPS33B):c.508C>A (p.Gln170Lys) SNV Uncertain Significance
885570 rs139582205 GRCh37: 15:91550794-91550794
GRCh38: 15:91007564-91007564
42 VPS33B NM_018668.5(VPS33B):c.499-3C>G SNV Uncertain Significance
885571 rs201919090 GRCh37: 15:91550806-91550806
GRCh38: 15:91007576-91007576
43 VPS33B NM_018668.5(VPS33B):c.240-9C>T SNV Uncertain Significance
502040 rs781107857 GRCh37: 15:91557672-91557672
GRCh38: 15:91014442-91014442
44 VPS33B NM_018668.5(VPS33B):c.1501T>C (p.Tyr501His) SNV Uncertain Significance
886528 rs200539802 GRCh37: 15:91543800-91543800
GRCh38: 15:91000570-91000570
45 VPS33B NM_018668.5(VPS33B):c.1192C>T (p.Arg398Cys) SNV Uncertain Significance
591612 rs943813904 GRCh37: 15:91548140-91548140
GRCh38: 15:91004910-91004910
46 VPS33B NM_018668.5(VPS33B):c.75G>A (p.Gln25=) SNV Uncertain Significance
500028 rs1289650070 GRCh37: 15:91565405-91565405
GRCh38: 15:91022175-91022175
47 VPS33B NM_018668.5(VPS33B):c.133C>A (p.Leu45Ile) SNV Uncertain Significance
195341 rs199874738 GRCh37: 15:91561079-91561079
GRCh38: 15:91017849-91017849
48 VPS33B NM_018668.5(VPS33B):c.1591C>T (p.Arg531Trp) SNV Uncertain Significance
317419 rs758814929 GRCh37: 15:91543196-91543196
GRCh38: 15:90999966-90999966
49 VPS33B NM_018668.5(VPS33B):c.-299T>G SNV Uncertain Significance
317435 rs773762275 GRCh37: 15:91565778-91565778
GRCh38: 15:91022548-91022548
50 VPS33B NM_018668.5(VPS33B):c.-137A>G SNV Uncertain Significance
317432 rs886051557 GRCh37: 15:91565616-91565616
GRCh38: 15:91022386-91022386

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

73
# 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
Show member pathways
13.19 USP34 USP25 UIMC1 TNKS2 TNKS RNF146
2
Show member pathways
12.41 USP34 TNKS2 TNKS RNF146 AXIN1
3
Show member pathways
12.22 TNKS2 TNKS TERF1 PARP15 PARP11
4
Show member pathways
11.94 USP34 USP25 UIMC1 TNKS2 TNKS RNF146
5
Show member pathways
10.65 TNKS2 TNKS TERF1
6 10.57 TNKS AXIN1

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:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.77 TNKS2 TNKS TERF1 OARD1 ADPRS
2 recycling endosome GO:0055037 9.76 VPS33B VIPAS39 RAB11A ADPRH
3 BRCA1-A complex GO:0070531 9.56 UIMC1 BABAM1
4 HOPS complex GO:0030897 9.5 VPS33B VIPAS39
5 nuclear body GO:0016604 9.4 UIMC1 TNKS TERF1 PARP11 BABAM1 ADPRS
6 vesicle tethering complex GO:0099023 9.26 VPS33B VIPAS39

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein polyubiquitination GO:0000209 10.1 TNKS2 TNKS LNPEP AXIN1
2 positive regulation of canonical Wnt signaling pathway GO:0090263 9.92 USP34 TNKS2 TNKS RNF146
3 Wnt signaling pathway GO:0016055 9.91 USP34 TNKS2 TNKS RNF146 AXIN1
4 phagosome-lysosome fusion GO:0090385 9.84 VPS33B VIPAS39
5 collagen metabolic process GO:0032963 9.83 VPS33B VIPAS39
6 protein localization to chromosome, telomeric region GO:0070198 9.81 TNKS2 TNKS
7 histone H2A K63-linked deubiquitination GO:0070537 9.78 UIMC1 BABAM1
8 peptidyl-lysine hydroxylation GO:0017185 9.76 VPS33B VIPAS39
9 protein de-ADP-ribosylation GO:0051725 9.67 ADPRH OARD1
10 protein auto-ADP-ribosylation GO:0070213 9.63 TNKS2 TNKS PARP11
11 obsolete protein ADP-ribosylation GO:0006471 9.43 TNKS2 TNKS
12 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.43 TNKS2 TNKS TERF1
13 obsolete protein mono-ADP-ribosylation GO:0140289 9.4 PARP15 PARP11
14 protein poly-ADP-ribosylation GO:0070212 9.1 TNKS2 TNKS PARP15

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.95 USP34 USP25 RAB11A OARD1 LNPEP ADPRS
2 nucleotidyltransferase activity GO:0016779 9.76 PARP11 PARP15 TNKS TNKS2
3 glycosyltransferase activity GO:0016757 9.67 TNKS2 TNKS PARP15 PARP11
4 O-acetyl-ADP-ribose deacetylase activity GO:0061463 9.56 OARD1 ADPRS
5 NAD+ ADP-ribosyltransferase activity GO:0003950 9.56 TNKS2 TNKS PARP15 PARP11
6 hydrolase activity, hydrolyzing N-glycosyl compounds GO:0016799 9.32 ADPRS ADPRH
7 NAD+-protein ADP-ribosyltransferase activity GO:1990404 9.23 TNKS2 TNKS PARP15 PARP11

Sources for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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