ARCS1
MCID: ART062
MIFTS: 46

Arthrogryposis, Renal Dysfunction, and Cholestasis 1 (ARCS1) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

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

Aliases & Descriptions for Arthrogryposis, Renal Dysfunction, and Cholestasis 1:

Name: Arthrogryposis, Renal Dysfunction, and Cholestasis 1 54 13
Arc Syndrome 12 50 66 14
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 50 69
Arthrogryposis Renal Dysfunction and Cholestasis 24 29
Renal Insufficiency 42 69
Arthrogryposis Multiplex Congenita, Renal Dysfunction, and Cholestasis 50
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 12
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 1 66
Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 24
Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome 50
Arthrogryposis, Renal Dysfunction, and Cholestasis 12
Arthrogryposis Renal Dysfunction and Cholestasis 1 66
Arthrogryposis - Renal Dysfunction - Cholestasis 50
Arthrogryposis-Renal Dysfunction-Cholestasis 12
Kidney Failure 69
Arcs1 66
Arcs 66

Characteristics:

HPO:

32
arthrogryposis, renal dysfunction, and cholestasis 1:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 208085
Disease Ontology 12 DOID:0050763
MedGen 40 C1859722

Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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. It has material basis in homozygous or compound heterozygous mutation in the VPS33B gene or has masterial basis in homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.

MalaCards based summary : Arthrogryposis, Renal Dysfunction, and Cholestasis 1, also known as arc syndrome, is related to arthrogryposis, renal dysfunction, and cholestasis 2 and vipas39-related arthrogryposis, renal dysfunction, and cholestasis syndrome, and has symptoms including low-set ears, muscular hypotonia and failure to thrive. An important gene associated with Arthrogryposis, Renal Dysfunction, and Cholestasis 1 is VPS33B (VPS33B, Late Endosome And Lysosome Associated). The drugs Benzocaine and Cyclosporine have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver.

UniProtKB/Swiss-Prot : 66 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 : 71 Arthrogryposis–renal dysfunction–cholestasis syndrome (also known as \"ARC syndrome\") is a... more...

Description from OMIM: 208085

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 Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
Vps33b-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome

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

(show all 37)
id Related Disease Score Top Affiliating Genes
1 arthrogryposis, renal dysfunction, and cholestasis 2 12.5
2 vipas39-related arthrogryposis, renal dysfunction, and cholestasis syndrome 12.3
3 vps33b-related arthrogryposis, renal dysfunction, and cholestasis syndrome 11.2
4 nephrolithiasis, type i 10.9
5 fanconi renotubular syndrome 1 10.8
6 nephrotic syndrome, type 7 10.8
7 amyloidosis, hereditary, transthyretin-related 10.8
8 dent disease 10.8
9 hypophosphatemic rickets 10.8
10 proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 10.8
11 papillorenal syndrome 10.8
12 secondary hyperparathyroidism of renal origin 10.8
13 tafro syndrome 10.8
14 exudative vitreoretinopathy 4 10.7
15 exudative vitreoretinopathy 1 10.7
16 photokeratitis 10.7
17 exudative vitreoretinopathy 2, x-linked 10.7
18 toxic pneumonitis 10.7
19 exudative vitreoretinopathy 5 10.7
20 exudative vitreoretinopathy 6 10.7
21 nephronophthisis 10.7
22 glomerulosclerosis, focal segmental, 4 10.7
23 polycystic kidney and hepatic disease 10.7
24 dent disease 2 10.7
25 mental retardation, x-linked, syndromic, martin-probst type 10.7
26 glomerulosclerosis, focal segmental, 6 10.7
27 glomerulosclerosis, focal segmental, 1 10.7
28 cholestasis 10.1
29 eclampsia 10.0 VIPAS39 VPS33B
30 catecholaminergic polymorphic ventricular tachycardia 5 9.9 NBEAL2 VPS33B
31 ichthyosis 9.8
32 diabetes insipidus 9.7
33 renal tubular acidosis 9.6
34 nephrocalcinosis 9.6
35 bursitis 9.6
36 cerebritis 9.6
37 otosclerosis 1 9.0 NBEAL2 TGFBRAP1 VIPAS39 VPS16 VPS33B VPS39

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

Symptoms by clinical synopsis from OMIM:

208085

Clinical features from OMIM:

208085

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

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

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


icterus

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 1237)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1994-09-7, 94-09-7 2337
2
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
3
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 22916-47-8 4189
5
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 53123-88-9 5284616 6436030 46835353
6
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 104987-11-3 445643 439492
7
Lactulose Approved Phase 4,Phase 3 4618-18-2 11333
8
Rifaximin Approved, Investigational Phase 4,Phase 3,Early Phase 1 80621-81-4 6436173
9
Capsaicin Approved Phase 4 404-86-4 1548943
10
Simvastatin Approved Phase 4,Phase 3,Phase 1,Early Phase 1 79902-63-9 54454
11
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
12
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 616-91-1 12035
13
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 9005-49-6 772 46507594
14
Basiliximab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 152923-56-3, 179045-86-4
15
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 83-43-2 6741
16
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 128794-94-5 5281078
17
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 24280-93-1 446541
18
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-24-8 5755
19
Spironolactone Approved Phase 4,Phase 3,Phase 2,Phase 1 1952-01-7, 52-01-7 5833
20
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7439-89-6 23925
21
alemtuzumab Approved, Investigational Phase 4,Phase 1,Phase 2 216503-57-0
22
Daclizumab Approved, Investigational Phase 4,Phase 3,Phase 2 152923-56-3
23
Furosemide Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 54-31-9 3440
24
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 58-93-5 3639
25
Candesartan Approved Phase 4,Phase 3,Phase 1,Phase 2 139481-59-7 2541
26
Enalapril Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 75847-73-3 5362032 40466924
27
Enalaprilat Approved Phase 4,Phase 3,Phase 1,Phase 2 76420-72-9 6917719
28
Alprostadil Approved, Investigational Phase 4 745-65-3 149351
29
Amiloride Approved Phase 4,Phase 2 2016-88-8, 2609-46-3 16231
30
Amlodipine Approved Phase 4,Phase 3,Phase 2 88150-42-9 2162
31
Telmisartan Approved, Investigational Phase 4,Phase 3,Phase 2 144701-48-4 65999
32
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-23-7 5754 657311
33
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
34
Valsartan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 137862-53-4 60846
35
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
36
Desflurane Approved Phase 4,Phase 2 57041-67-5 42113
37
Sevoflurane Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 28523-86-6 5206
38
Digoxin Approved Phase 4 20830-75-5 30322 2724385
39
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-78-2 2244
40
Icodextrin Approved, Investigational Phase 4,Phase 3,Phase 2 337376-15-5
41
Pioglitazone Approved, Investigational Phase 4,Phase 2 111025-46-8 4829
42
Lisinopril Approved, Investigational Phase 4,Phase 3,Phase 2 83915-83-7 5362119
43
Adefovir Dipivoxil Approved, Investigational Phase 4,Phase 3 142340-99-6 60871
44
Telbivudine Approved, Investigational Phase 4,Phase 2,Phase 3 3424-98-4 159269
45
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Phase 1 103-90-2 1983
46
Clonidine Approved Phase 4,Phase 1,Phase 2 4205-90-7 2803
47
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
48
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
49
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
50
Nitric Oxide Approved Phase 4,Phase 3,Phase 1,Phase 2 10102-43-9 145068

Interventional clinical trials:

(show top 50) (show all 4852)
id Name Status NCT ID Phase
1 Inspiratory Muscle Training in Patients With End Stage Renal Failure Unknown status NCT01347775 Phase 4
2 Efficacy Study of Everolimus on Renal Function in Heart Transplant Recipients With Established Chronic Renal Failure Unknown status NCT00716573 Phase 4
3 Rifaximin Versus Lactulose in Renal Failure Unknown status NCT00748904 Phase 4
4 Renal Toxicity of Iodixanol and Iopromide in Patients With Renal Dysfunction Unknown status NCT01580046 Phase 4
5 Qutenza for Critical Ischaemia in End Stage Renal Failure Unknown status NCT01704339 Phase 4
6 Simvastatin Effect on End Stage Renal Failure Patients Treated by Peritoneal Dialysis Unknown status NCT00291863 Phase 4
7 Preventive Effect of Pitavastatin on Contrast-Induced Nephropathy in Patients With Renal Dysfunction Unknown status NCT01871792 Phase 4
8 Randomized Comparison of Two Albumin Administration Schedules for Spontaneous Bacterial Peritonitis (SBP) Unknown status NCT00761098 Phase 4
9 NAC in Preventing CIN in CRF Patients Who Need Enhanced CT Scan in ED Unknown status NCT00501475 Phase 4
10 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
11 Citrate Versus Heparin for the Lock of Non-tunneled Hemodialysis Catheters in Patients Hospitalised in ICU Unknown status NCT01962116 Phase 4
12 Steroid Free Immunosuppression or Calcineurin Inhibitor Minimization After Basiliximab Induction Therapy in Kidney Transplantation: Comparison With a Standard Quadruple Immunosuppressive Regimen Unknown status NCT01560572 Phase 4
13 Mineralocorticoid Receptor Antagonist and Kidney Allograft Histology Unknown status NCT01510795 Phase 4
14 Renal Effects of Levosimendan in Patients Admitted With Acute Decompensated Heart Failure Unknown status NCT00527059 Phase 4
15 Effects of Spironolactone in Dialysis Unknown status NCT01128101 Phase 4
16 Prevention of Contrast-Induced Nephropathy in Diabetic Patients With Undergoing Coronary Angiography Unknown status NCT00950079 Phase 4
17 Hemocontrol's Effectiveness on the Reduction of Cardiovascular Long-term EventS Unknown status NCT01515878 Phase 4
18 The Prevention of Contrast Induced Nephropathy by Sarpogrelate in Patients With Chronic Kidney Disease Unknown status NCT01165567 Phase 4
19 Revascularization of Renal Artery Stenosis Versus Medical Therapy for the Treatment of Ischemic Nephropathy Unknown status NCT01023373 Phase 4
20 The Effects of AST-120 on Endothelial Dysfunction in Patients With Chronic Kidney Disease Unknown status NCT01157260 Phase 4
21 Intravenous Iron in Patients With Anemia of Chronic Kidney Disease Unknown status NCT00204256 Phase 4
22 Effect of 3g Versus 2 g MMF in Combination With Tacrolimus on Progression of Renal Allograft Interstitial Fibrosis Unknown status NCT01860183 Phase 4
23 Comparison of Alemtuzumab/Tacrolimus Versus Interleukin-2 Receptor (IL-2R) Monoclonal Antibody (MoAb)/Tacrolimus/Mycophenolate in Kidney Transplantation Unknown status NCT00246129 Phase 4
24 Value Antiproteinuric Effects From Vitamin D Derivatives in Patient With Chronic Kidney Illness and the Lack of Vitamin D Unknown status NCT01442272 Phase 4
25 Standard Versus Prolonged-release Tacrolimus Monotherapy After Alemtuzumab Induction in Kidney Transplantation Unknown status NCT00807144 Phase 4
26 Clinical Trial to Compare Effectiveness of Diuretics in Hemodialysis Patients With Residual Renal Function Unknown status NCT01977430 Phase 4
27 Effects of an Exercise Program in Patients With Hypertensive Chronic Kidney Disease Unknown status NCT01155128 Phase 4
28 Pulse Wave Velocity, Pulse Wave Morphology and Blocking of the Reninangiotensin System in Patients With Chronic Kidney Disease Unknown status NCT00235287 Phase 4
29 Cardiovascular Protective Effect of Spironolactone in Hemodialysis Unknown status NCT00277693 Phase 4
30 Egg Albumin-Based Protein Supplement Versus Renal-specific Supplement in Hemodialysis Patients Unknown status NCT01981083 Phase 4
31 Efficacy and Safety of Alprostadil Prevent Contrast Induced Nephropathy Unknown status NCT01722513 Phase 4
32 Effects of Angiotensin II Receptor Blocker Compared With Diuretics in High-risk Hypertensive Patients Unknown status NCT01011660 Phase 4
33 Fibrosis in Renal Allografts Unknown status NCT00493194 Phase 4
34 Morbidity and Mortality Among Dialysis Patients After Treatment for Depression Unknown status NCT00442429 Phase 4
35 Prevention of Contrast Nephropathy During Diagnostic Coronary Angiogram or PCI With Hydratation Based on LEVDP Unknown status NCT00584350 Phase 4
36 Safety and Efficacy of Basiliximab, Delayed Dose Tacrolimus Plus ECMPA Following Liver Transplantation Unknown status NCT02123108 Phase 4
37 The Canadian Prevention of Renal and Cardiovascular Endpoints Trial Unknown status NCT00231803 Phase 4
38 Pilot Study Evaluating Doxercalciferol Replacement Therapy in Kidney Transplant Recipients Unknown status NCT00889629 Phase 4
39 Effect of Valsartan vs Perindopril on HOMA-IR Index in Patients With Chronic Kidney Disease Unknown status NCT02299310 Phase 4
40 Keto-/Amino Acid Supplemented Low Protein Diet in Patients With Chronic Kidney Disease Unknown status NCT00364884 Phase 4
41 Opioids in Chronic Kidney Disease Patients Undergoing Hemodialysis Unknown status NCT02452437 Phase 4
42 Enhancing Dialysis Adequacy: Effects of Intradialytic Exercise Unknown status NCT01481688 Phase 4
43 The Effect of Volatile Anesthetics Sevoflurane and Desflurane on Liver, Renal and Cardiovascular Systems During Liver Surgery Unknown status NCT01267786 Phase 4
44 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
45 Marinobufagenin as a Target for DIGIBIND in Hypertensive Patients With End-stage Renal Disease Unknown status NCT00852787 Phase 4
46 More Frequent Dialysis (>3 Treatments Per Week) Unknown status NCT00575497 Phase 4
47 Anti-Oxidant Effect on Peritoneal Membrane in Peritoneal Dialysis (PD) Patients Unknown status NCT01111422 Phase 4
48 Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis Unknown status NCT00173706 Phase 4
49 Early Continuous Renal Replacement Therapies (CRRT) in Patients With Severe Sepsis or Septic Shock With Acute Kidney Injury Unknown status NCT00837057 Phase 4
50 Effect of Different Hemodialysis Modality on Adiponectin,Vascular Function and Clinical Prognosis Unknown status NCT00155363 Phase 4

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:

id Genetic test Affiliating Genes
1 Arthrogryposis Renal Dysfunction Cholestasis Syndrome 29
2 Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 24 VPS33B

Anatomical Context for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

39
Kidney, Liver

Publications for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

Variations for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

66
id Symbol AA change Variation ID SNP ID
1 VPS33B p.Leu30Pro VAR_018983 rs121434385
2 VPS33B p.Ser243Phe VAR_057901 rs139829189

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 VPS33B NM_018668.4(VPS33B): c.1594C> T (p.Arg532Ter) single nucleotide variant Pathogenic rs121434383 GRCh37 Chromosome 15, 91543193: 91543193
2 VPS33B NM_018668.4(VPS33B): c.1312C> T (p.Arg438Ter) single nucleotide variant Pathogenic rs121434384 GRCh37 Chromosome 15, 91545373: 91545373
3 VPS33B NM_018668.4(VPS33B): c.89T> C (p.Leu30Pro) single nucleotide variant Pathogenic rs121434385 GRCh37 Chromosome 15, 91565391: 91565391
4 VPS33B NM_018668.4(VPS33B): c.700+1G> A single nucleotide variant Pathogenic rs794726658 GRCh38 Chromosome 15, 91006949: 91006949
5 TSC1 NM_000368.4(TSC1): c.989dupT (p.Ser331Glufs) duplication Pathogenic rs118203478 GRCh37 Chromosome 9, 135786880: 135786880
6 VPS33B NM_018668.3(VPS33B): c.240-577_290-156del deletion Pathogenic GRCh37 Chromosome 15, 91557257: 91558240
7 VPS33B NM_018668.4(VPS33B): c.1225+5G> C single nucleotide variant Pathogenic rs398122407 GRCh37 Chromosome 15, 91548102: 91548102
8 VPS33B NM_018668.4(VPS33B): c.1261_1262delCA (p.Gln421Valfs) deletion Pathogenic rs398122408 GRCh37 Chromosome 15, 91546325: 91546326
9 VPS33B NM_018668.4(VPS33B): c.1616delA (p.Glu539Glyfs) deletion Pathogenic rs886043445 GRCh37 Chromosome 15, 91543171: 91543171
10 VPS33B NM_018668.4(VPS33B): c.403+2T> A single nucleotide variant Pathogenic rs769333468 GRCh38 Chromosome 15, 91009799: 91009799

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

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 11)
id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.67 VIPAS39 VPS16 VPS33B
2 lysosome GO:0005764 9.63 VPS16 VPS33B VPS39
3 lysosomal membrane GO:0005765 9.61 VPS16 VPS33B VPS39
4 early endosome GO:0005769 9.56 TGFBRAP1 VIPAS39 VPS16 VPS33B
5 endosome GO:0005768 9.55 TGFBRAP1 VIPAS39 VPS16 VPS33B VPS39
6 recycling endosome GO:0055037 9.54 VIPAS39 VPS16 VPS33B
7 late endosome membrane GO:0031902 9.5 VPS16 VPS33B VPS39
8 clathrin-coated vesicle GO:0030136 9.48 VPS16 VPS33B
9 AP-3 adaptor complex GO:0030123 9.4 VPS33B VPS39
10 late endosome GO:0005770 9.26 VIPAS39 VPS16 VPS33B VPS39
11 HOPS complex GO:0030897 8.92 VIPAS39 VPS16 VPS33B VPS39

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.77 TGFBRAP1 VIPAS39 VPS16 VPS33B VPS39
2 vesicle-mediated transport GO:0016192 9.58 TGFBRAP1 VPS33B VPS39
3 intracellular protein transport GO:0006886 9.56 TGFBRAP1 VIPAS39 VPS16 VPS39
4 protein transport GO:0015031 9.55 TGFBRAP1 VIPAS39 VPS16 VPS33B VPS39
5 autophagy GO:0006914 9.43 VPS16 VPS39
6 endosomal vesicle fusion GO:0034058 9.32 TGFBRAP1 VPS39
7 autophagosome maturation GO:0097352 9.13 VIPAS39 VPS16 VPS33B
8 endosome to lysosome transport GO:0008333 9.02 TGFBRAP1 VIPAS39 VPS16 VPS33B VPS39

Sources for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

3 CDC
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11 DGIdb
16 ExPASy
18 FMA
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34 ICD10 via Orphanet
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