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 56 12 13 6
Arc Syndrome 56 12 74 52 58 73 15
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 74 52 29 71
Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome 74 52 58
Arcs1 56 12 73
Arthrogryposis, Renal Dysfunction, and Cholestasis 12 36
Renal Insufficiency 43 71
Arcs 56 73
Arthrogryposis Multiplex Congenita, Renal Dysfunction, and Cholestasis 52
Arthrogryposis with Renal Dysfunction and Cholestasis Syndrome 6
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 12
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 1 73
Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1 39
Arthrogryposis Renal Dysfunction and Cholestasis 1 73
Arthrogryposis - Renal Dysfunction - Cholestasis 52
Arthrogryposis-Renal Dysfunction-Cholestasis 12
Arc Syndrome; Arcs 56
Kidney Failure 71

Characteristics:

Orphanet epidemiological data:

58
arthrogryposis-renal dysfunction-cholestasis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
arthrogryposis, renal dysfunction, and cholestasis 1:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0050763 DOID:0111353
OMIM 56 208085
OMIM Phenotypic Series 56 PS208085
KEGG 36 H00950
MESH via Orphanet 44 C535382
ICD10 via Orphanet 33 Q89.7
UMLS via Orphanet 72 C1859722
Orphanet 58 ORPHA2697
MedGen 41 C1859722
UMLS 71 C0035078 C1565489 C1859722

Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2697 Definition A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. Epidemiology The prevalence is unknown but less than 100 patients have been reported in the literature so far. Clinical description The 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. Etiology Mutations 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 diagnosis The differential diagnosis should include progressive familial intrahepatic cholestasis disorders, other forms of arthrogryposis multiplex congenita and congenital ichthyosiform dermatoses (see these terms). Genetic counseling The syndrome is generally considered to be transmitted as an autosomal recessive trait . Management and treatment There is no specific treatment for the disease. Prognosis Most 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 atp8b1 deficiency, and has symptoms including icterus An important gene associated with Arthrogryposis, Renal Dysfunction, and Cholestasis 1 is VPS33B (VPS33B Late Endosome And Lysosome Associated). 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 : 36 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 : 73 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 : 74 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 1135)
# Related Disease Score Top Affiliating Genes
1 cholestasis 30.7 VPS33B VIPAS39 ATP8B1 ABCB11
2 atp8b1 deficiency 30.5 ATP8B1 ABCB11
3 gray platelet syndrome 30.1 VPS33B VIPAS39 NBEAL2 LYST BLOC1S1
4 arthrogryposis, renal dysfunction, and cholestasis 2 12.3
5 obsolete: platelet function disease associated with renal insufficiency 12.3
6 dent disease 1 11.6
7 secondary hyperparathyroidism of renal origin 11.6
8 hypophosphatemic rickets, x-linked recessive 11.5
9 papillorenal syndrome 11.5
10 exudative vitreoretinopathy 1 11.5
11 photokeratitis 11.5
12 hypertriglyceridemia, familial 11.4
13 vesicoureteral reflux 1 11.4
14 hepatic veno-occlusive disease 11.4
15 nephrolithiasis, x-linked recessive, with renal failure 11.3
16 tafro syndrome 11.3
17 amyloidosis, hereditary, transthyretin-related 11.2
18 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 11.2
19 nephrotic syndrome, type 7 11.2
20 mcdonough syndrome 11.1
21 exudative vitreoretinopathy 2, x-linked 11.1
22 exudative vitreoretinopathy 4 11.1
23 exudative vitreoretinopathy 5 11.1
24 exudative vitreoretinopathy 6 11.1
25 exudative vitreoretinopathy 7 11.1
26 toxic pneumonitis 11.1
27 frasier syndrome 11.1
28 nail-patella-like renal disease 11.1
29 polycystic kidney disease 4 with or without polycystic liver disease 11.1
30 mental retardation, x-linked, syndromic, martin-probst type 11.1
31 dent disease 2 11.1
32 polycystic kidney disease 3 with or without polycystic liver disease 11.1
33 focal segmental glomerulosclerosis 1 11.1
34 focal segmental glomerulosclerosis 2 11.1
35 focal segmental glomerulosclerosis 3 11.1
36 congenital anomalies of kidney and urinary tract 1 11.1
37 vesicoureteral reflux 2 11.1
38 focal segmental glomerulosclerosis 4 11.1
39 focal segmental glomerulosclerosis 5 11.1
40 fanconi renotubular syndrome 2 11.1
41 vesicoureteral reflux 3 11.1
42 focal segmental glomerulosclerosis 6 11.1
43 fanconi renotubular syndrome 3 11.1
44 vesicoureteral reflux 8 11.1
45 focal segmental glomerulosclerosis 7 11.1
46 focal segmental glomerulosclerosis 8 11.1
47 focal segmental glomerulosclerosis 9 11.1
48 iga nephropathy 3 11.1
49 polycystic kidney disease 6 with or without polycystic liver disease 11.1
50 kleefstra syndrome 11.1

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:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 nephrogenic diabetes insipidus 31 occasional (7.5%) HP:0009806
2 abnormal bleeding 31 occasional (7.5%) HP:0001892
3 lissencephaly 31 occasional (7.5%) HP:0001339
4 low-set ears 31 HP:0000369
5 failure to thrive 31 HP:0001508
6 muscular hypotonia 31 HP:0001252
7 global developmental delay 31 HP:0001263
8 hip dysplasia 31 HP:0001385
9 micrognathia 31 HP:0000347
10 ventricular septal defect 31 HP:0001629
11 ichthyosis 31 HP:0008064
12 microcephaly 31 HP:0000252
13 arthrogryposis multiplex congenita 31 HP:0002804
14 sloping forehead 31 HP:0000340
15 nephropathy 31 HP:0000112
16 dehydration 31 HP:0001944
17 generalized hypotonia 31 HP:0001290
18 elevated hepatic transaminase 31 HP:0002910
19 atrial septal defect 31 HP:0001631
20 cholestatic liver disease 31 HP:0002611
21 jaundice 31 HP:0000952
22 nephrocalcinosis 31 HP:0000121
23 metabolic acidosis 31 HP:0001942
24 conjugated hyperbilirubinemia 31 HP:0002908
25 renal tubular acidosis 31 HP:0001947
26 talipes calcaneovalgus 31 HP:0001884
27 right ventricular hypertrophy 31 HP:0001667
28 giant cell hepatitis 31 HP:0200084

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears

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

Head And Neck Face:
micrognathia
sloping forehead

Head And Neck Head:
microcephaly

Genitourinary Kidneys:
nephropathy
nephrocalcinosis
renal tubular acidosis
fanconi syndrome
nephrogenic diabetes insipidus (less common)
more
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

Skeletal:
arthrogryposis multiplex congenita
fractures at birth

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

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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 ABCB11 ATP8B1 INF2 LYST RAB11A SNAP29
2 pigmentation MP:0001186 9.02 BLOC1S1 LYST SLC35D3 TSC1 VPS33A

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 1028)
# 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
Dalteparin Approved Phase 4 9005-49-6
7
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
8
Darbepoetin alfa Approved, Investigational Phase 4 209810-58-2, 11096-26-7
9
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
10
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
11
Argatroban Approved, Investigational Phase 4 74863-84-6 152951
12
Insulin glargine Approved Phase 4 160337-95-1
13
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
14
Basiliximab Approved, Investigational Phase 4 179045-86-4, 152923-56-3
15
Terlipressin Approved, Investigational Phase 4 14636-12-5 72081
16
Calcium carbonate Approved, Investigational Phase 4 471-34-1
17
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
18
Telavancin Approved Phase 4 372151-71-8
19 Taurolidine Approved, Investigational Phase 4 19388-87-5
20
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
21
Insulin aspart Approved Phase 4 116094-23-6 16132418
22
Midodrine Approved Phase 4 42794-76-3, 133163-28-7 4195
23
Indapamide Approved Phase 4 26807-65-8 3702
24
Acetaminophen Approved Phase 4 103-90-2 1983
25
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
26
alemtuzumab Approved, Investigational Phase 4 216503-57-0
27
Promethazine Approved, Investigational Phase 4 60-87-7 4927
28
Ramipril Approved Phase 4 87333-19-5 5362129
29
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
30
Nadroparin Approved, Investigational Phase 4
31
Deflazacort Approved, Investigational Phase 4 14484-47-0
32
Colchicine Approved Phase 4 64-86-8 6167 2833
33
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
34
Nystatin Approved, Vet_approved Phase 4 1400-61-9 11953884
35
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
36
Zoledronic Acid Approved Phase 4 118072-93-8 68740
37
Regadenoson Approved, Investigational Phase 4 313348-27-5 219024
38
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
39
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
40
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
41
Atenolol Approved Phase 4 29122-68-7 2249
42
Insulin lispro Approved Phase 4 133107-64-9
43
Insulin glulisine Approved Phase 4 207748-29-6
44
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
45
Ranolazine Approved, Investigational Phase 4 95635-55-5, 142387-99-3 56959
46
Deferiprone Approved Phase 4 30652-11-0 2972
47
Oseltamivir Approved Phase 4 196618-13-0, 204255-11-8 65028
48
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
49
Aminophylline Approved Phase 4 317-34-0 9433
50
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754

Interventional clinical trials:

(show top 50) (show all 4671)
# Name Status NCT ID Phase Drugs
1 Hemocontrol's Effectiveness in a RAndomized Controlled Trial on the Reduction of Cardiovascular Long-term EventS Unknown status NCT01515878 Phase 4
2 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
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 Open Randomized Phase IV Study on Intravenous Iron in Anemic Patients With Chronic Kidney Disease Unknown status NCT00204256 Phase 4 Iron sucrose
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 The Effects of AST-120 on Endothelial Dysfunction in Patients With Chronic Kidney Disease Unknown status NCT01157260 Phase 4 Kremezin
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 A Randomized Comparison of Two Albumin Administration Schedules for Spontaneous Bacterial Peritonitis Unknown status NCT00761098 Phase 4 Standard Care;Experimental
12 Inspiratory Muscle Training in Patients With End Stage Renal Failure: a Randomized Controlled Trial Unknown status NCT01347775 Phase 4
13 Phase 4 Study of Alprostadil Prevent Contrast Induced Nephropathy in Patients Receiving a Cardiac Catheterization Unknown status NCT01722513 Phase 4 Alprostadil ﹠control
14 A New Anticoagulation Method Using Dalteparin in Quotidian and Nocturnal Home Hemodialysis Patients: A Prospective Study Unknown status NCT02607111 Phase 4 Dalteparin
15 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
16 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
17 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
18 Effects of an Exercise Program in Patients With Hypertensive Chronic Kidney Disease: a Randomized Clinical Trial Unknown status NCT01155128 Phase 4
19 Immunosuppression in Renal Transplantation in The Elderly: Time to Rethink. - nEverOld Study Unknown status NCT01631058 Phase 4 Everolimus
20 Impact of a Mineralocorticoid Receptor Antagonist on Chronic Histological Changes in Renal Allograft Unknown status NCT01510795 Phase 4 spironolactone
21 A Randomised Controlled Comparison of Campath−Tacrolimus vs IL2R MoAb−Tacrolimus/MMMF in Kidney Transplantation Unknown status NCT00246129 Phase 4 Alemtuzumab;Daclizumab
22 Renoprotection by Combining Pentoxifylline and Angiotensin Blockade in Chronic Kidney Disease Unknown status NCT01377285 Phase 4 ARB;Pentoxifylline;Placebo (for Pentoxifylline)
23 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
24 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
25 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
26 Upstream Use of Aliskiren in Hypertensive Haemodialysis Patients: Effects on Cardiovascular Outcomes Unknown status NCT01635387 Phase 4 aliskiren
27 Safety and Efficacy of Shenyankangfu Tablets for Chronic Kidney Disease Unknown status NCT02885857 Phase 4 Shenyan Kangfu Tablet
28 Preventing Contrast Induced Nephropathy After Transcatheter Aortic Valve Replacement Unknown status NCT03121053 Phase 4 sodium bicarbonate;hypotone saline
29 Efficacy and Safety of Abelmoschus Manihot for Chronic Kidney Disease:a Multicentre Open Study Unknown status NCT02231138 Phase 4 Abelmoschus manihot (AM)
30 A Randomized Comparison of Rifaximin Versus Lactulose in Hospitalized Cirrhotic Patients With Progressive Renal Failure Unknown status NCT00748904 Phase 4 Rifaximin;Lactulose
31 Effect of Valsartan vs Perindopril on HOMA-IR Index in Patients With Chronic Kidney Disease Unknown status NCT02299310 Phase 4 Valsartan;Perindopril
32 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
33 Phase 4 Study of Sarpogrelate That Prevent Contrast-induced Nephropathy Unknown status NCT01165567 Phase 4 sarpogrelate
34 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
35 A Study Comparing Thymoglobulin to Tacrolimus in Liver Transplant and Impact on Renal Function Unknown status NCT00564538 Phase 4 anti-thymocyte globulin (rabbit);tacrolimus
36 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
37 The Change of Urinary Angiotensinogen Excretion After Valsartan Treatment in Chronic Kidney Diseases Patients With Persistent Proteinuria Unknown status NCT00858299 Phase 4 valsartan
38 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
39 Effect of Aliskiren on Muscle Sympathetic Nerve Activity (MSNA) in Hypertensive Patients With Chronic Kidney Disease Unknown status NCT00719316 Phase 4 Aliskiren
40 Phase 4 Study of Oral Calcitriol for Reduction of Mild Proteinuria in Patients With CKD Unknown status NCT01820832 Phase 4 Calcitriol
41 Preventive Strategies of REnal Insufficiency in Patients With Diabetes Undergoing InterVENTion or Arteriography(PREVENT Trial) Unknown status NCT00950079 Phase 4 Sodium bicarbonate;saline
42 NAC in Preventing CIN in CRF Patients Who Need Enhanced CT Scan in ED Unknown status NCT00501475 Phase 4 NAC Bicarbonate
43 The Association Between Body Composition and Biomarkers in Hemodialysis Patients Unknown status NCT01103167 Phase 4
44 Marinobufagenin as a Target for DIGIBIND in Hypertensive Patients With End-stage Renal Disease Unknown status NCT00852787 Phase 4 Digoxin immune fab;Placebo
45 The Use of Self Retaining Sutures in Open and Laparoscopic Partial Nephrectomy Unknown status NCT01413607 Phase 4
46 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
47 Comparison of 3g Versus 2g Mycophenolate Mofetil in Combination With Tacrolimus on Progression of Chronic Histology Changes in Kidney Transplant Recipients Unknown status NCT01860183 Phase 4 Mycophenolate mofetil
48 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
49 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
50 A Randomized Controlled Trial Comparing the Adductor Canal Catheter (ACC) and Intra-articular Catheter (IAC) Following Primary Total Knee Arthroplasty Unknown status NCT02497911 Phase 4 Ropivicaine;Bupivicaine

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:

40
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 95)
# Title Authors PMID Year
1
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. 61 56 6
22753090 2012
2
A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth. 61 56 6
17994566 2007
3
Clinical and molecular genetic features of ARC syndrome. 61 56 6
16896922 2006
4
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. 61 56 6
15052268 2004
5
Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. 61 56 6
8151641 1994
6
Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review. 61 56
16155421 2005
7
ARC syndrome: an expanding range of phenotypes. 61 6
11668108 2001
8
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. 6
20190753 2010
9
Arthrogryposis, renal tubular acidosis and cholestasis syndrome: spectrum of the clinical manifestations. 56
17159523 2007
10
Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families. 56
8529684 1995
11
Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant. 56
2231211 1990
12
Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family. 56
2248291 1990
13
Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome. 56
6543856 1984
14
A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease. 56
762621 1979
15
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions. 61
31463585 2020
16
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers. 61
31463586 2020
17
Predictors of failure after conservative treatment of symptomatic partial-thickness rotator cuff tear. 61
31399270 2020
18
Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome. 61
31479177 2019
19
A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome. 61
31777725 2019
20
A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival. 61
31240160 2019
21
CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease. 61
31092635 2019
22
A Novel VPS33B Mutation Causing a Mild Phenotype of ARC Syndrome. 61
30747815 2019
23
Metabolomics and Lipidomics Reveal the Effect of Hepatic Vps33b Deficiency on Bile Acids and Lipids Metabolism. 61
30967781 2019
24
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome. 61
30561130 2018
25
Identification of genes and signaling pathways associated with arthrogryposis‑renal dysfunction‑cholestasis syndrome using weighted correlation network analysis. 61
30015832 2018
26
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney. 61
30093463 2018
27
Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report. 61
29907094 2018
28
VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function. 61
29409756 2018
29
[Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome]. 61
29046204 2017
30
A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome. 61
28544027 2017
31
Vps33b is crucial for structural and functional hepatocyte polarity. 61
28082148 2017
32
α-granule biogenesis: from disease to discovery. 61
28277061 2017
33
[The complex phenotype of ARC syndrome: A new case]. 61
28007512 2017
34
ARC syndrome. 61
29624233 2017
35
ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination. 61
27496733 2016
36
Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome? 61
26971401 2016
37
Constipation as an Atypical Sign of ARC Syndrome - Case Report. 61
30568833 2016
38
Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis. 61
26808426 2016
39
The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage. 61
26505894 2016
40
Vps33B is required for delivery of endocytosed cargo to lysosomes. 61
26403612 2015
41
Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity. 61
26463206 2015
42
VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes. 61
25947942 2015
43
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome. 61
24917129 2015
44
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. 61
25239142 2014
45
ARC syndrome with high GGT cholestasis caused by VPS33B mutations. 61
24782640 2014
46
Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China. 61
24415890 2014
47
Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes. 61
23918659 2013
48
ARC syndrome in preterm baby. 61
24071963 2013
49
Late endosomal transport and tethering are coupled processes controlled by RILP and the cholesterol sensor ORP1L. 61
23729732 2013
50
Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome. 61
26019847 2013

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 55) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VPS33B NM_018668.4(VPS33B):c.1130G>C (p.Arg377Pro)SNV association 219373 rs864622006 15:91548325-91548325 15:91005095-91005095
2 VPS33B NM_018668.4(VPS33B):c.1594C>T (p.Arg532Ter)SNV Pathogenic 2201 rs121434383 15:91543193-91543193 15:90999963-90999963
3 VPS33B NM_018668.4(VPS33B):c.1312C>T (p.Arg438Ter)SNV Pathogenic 2202 rs121434384 15:91545373-91545373 15:91002143-91002143
4 VPS33B NM_001289149.1(VPS33B):c.-123T>CSNV Pathogenic 2203 rs121434385 15:91565391-91565391 15:91022161-91022161
5 VPS33B NM_018668.4(VPS33B):c.700+1G>ASNV Pathogenic 2204 rs794726658 15:91550179-91550179 15:91006949-91006949
6 TSC1 NM_000368.5(TSC1):c.989dup (p.Ser331fs)duplication Pathogenic 49135 rs118203478 9:135786879-135786880 9:132911492-132911493
7 VPS33B NM_018668.4(VPS33B):c.240-577_290-156deldeletion Pathogenic 88857 rs1555460030 15:91557257-91558240 15:91014027-91015010
8 VPS33B NM_018668.4(VPS33B):c.1259_1260CA[1] (p.Gln421fs)short repeat Pathogenic 88859 rs398122408 15:91546325-91546326 15:91003095-91003096
9 VPS33B NM_018668.4(VPS33B):c.403+2T>ASNV Pathogenic 317430 rs769333468 15:91553029-91553029 15:91009799-91009799
10 VPS33B NM_018668.4(VPS33B):c.1498G>T (p.Glu500Ter)SNV Pathogenic 437260 rs751858602 15:91543803-91543803 15:91000573-91000573
11 VPS33B NM_018668.4(VPS33B):c.151C>T (p.Arg51Ter)SNV Pathogenic 587506 rs11542638 15:91561061-91561061 15:91017831-91017831
12 VIPAS39 NM_001193315.1(VIPAS39):c.20del (p.Asp7fs)deletion Pathogenic 635326 14:77920426-77920426 14:77454083-77454083
13 VIPAS39 NM_001193315.1(VIPAS39):c.1179+1G>ASNV Pathogenic 635327 14:77900184-77900184 14:77433841-77433841
14 VPS33B NM_018668.4(VPS33B):c.1726T>C (p.Cys576Arg)SNV Pathogenic 694284 15:91542955-91542955 15:90999725-90999725
15 INF2 NM_022489.4(INF2):c.658G>A (p.Glu220Lys)SNV Pathogenic/Likely pathogenic 523533 rs530391015 14:105169782-105169782 14:104703445-104703445
16 VPS33B NM_018668.4(VPS33B):c.1225+5G>CSNV Pathogenic/Likely pathogenic 88858 rs398122407 15:91548102-91548102 15:91004872-91004872
17 VPS33B NM_018668.4(VPS33B):c.498G>C (p.Leu166=)SNV Likely pathogenic 522443 rs1555459218 15:91551100-91551100 15:91007870-91007870
18 PKD1 NM_001009944.3(PKD1):c.3890_3891insCAC (p.Arg1298_Val1299insThr)insertion Likely pathogenic 620077 rs1567202189 16:2161277-2161278 16:2111276-2111277
19 VPS33B NM_018668.4(VPS33B):c.554_555CT[2] (p.Tyr187fs)short repeat Likely pathogenic 627537 15:91550743-91550744 15:91007513-91007514
20 PKD1 NM_001009944.3(PKD1):c.7904dup (p.Arg2636fs)duplication Likely pathogenic 689540 16:2155434-2155435 16:2105433-2105434
21 VPS33B NM_018668.4(VPS33B):c.1701C>T (p.Leu567=)SNV Conflicting interpretations of pathogenicity 195694 rs146999653 15:91542980-91542980 15:90999750-90999750
22 VPS33B NM_018668.4(VPS33B):c.1332G>A (p.Thr444=)SNV Conflicting interpretations of pathogenicity 317420 rs147407982 15:91545353-91545353 15:91002123-91002123
23 VPS33B NM_018668.4(VPS33B):c.1274G>A (p.Ser425Asn)SNV Conflicting interpretations of pathogenicity 317421 rs139709507 15:91545411-91545411 15:91002181-91002181
24 VPS33B NM_018668.4(VPS33B):c.944G>A (p.Arg315Gln)SNV Conflicting interpretations of pathogenicity 289201 rs145303578 15:91549010-91549010 15:91005780-91005780
25 VPS33B NM_018668.4(VPS33B):c.1170+5G>ASNV Conflicting interpretations of pathogenicity 317422 rs201431055 15:91548280-91548280 15:91005050-91005050
26 VPS33B NM_018668.4(VPS33B):c.1148T>C (p.Ile383Thr)SNV Conflicting interpretations of pathogenicity 317423 rs149121639 15:91548307-91548307 15:91005077-91005077
27 VPS33B NM_018668.4(VPS33B):c.*262T>GSNV Uncertain significance 317416 rs886051554 15:91541943-91541943 15:90998713-90998713
28 VPS33B NM_018668.4(VPS33B):c.404-14C>GSNV Uncertain significance 317428 rs886051556 15:91551208-91551208 15:91007978-91007978
29 VPS33B NM_018668.4(VPS33B):c.-271A>CSNV Uncertain significance 317434 rs116461458 15:91565750-91565750 15:91022520-91022520
30 VPS33B NM_018668.4(VPS33B):c.-335C>TSNV Uncertain significance 317437 rs886051558 15:91565814-91565814 15:91022584-91022584
31 VPS33B NM_018668.4(VPS33B):c.*125C>TSNV Uncertain significance 317418 rs76401688 15:91542080-91542080 15:90998850-90998850
32 VPS33B NM_018668.4(VPS33B):c.1591C>T (p.Arg531Trp)SNV Uncertain significance 317419 rs758814929 15:91543196-91543196 15:90999966-90999966
33 VPS33B NM_018668.4(VPS33B):c.868C>T (p.Arg290Trp)SNV Uncertain significance 317425 rs750350100 15:91549274-91549274 15:91006044-91006044
34 VPS33B NM_018668.4(VPS33B):c.-131G>ASNV Uncertain significance 317431 rs755401805 15:91565610-91565610 15:91022380-91022380
35 VPS33B NM_018668.4(VPS33B):c.-269T>CSNV Uncertain significance 317433 rs561174112 15:91565748-91565748 15:91022518-91022518
36 VPS33B NM_018668.4(VPS33B):c.-299T>GSNV Uncertain significance 317435 rs773762275 15:91565778-91565778 15:91022548-91022548
37 VPS33B NM_018668.4(VPS33B):c.133C>A (p.Leu45Ile)SNV Uncertain significance 195341 rs199874738 15:91561079-91561079 15:91017849-91017849
38 VPS33B NM_018668.4(VPS33B):c.136A>T (p.Met46Leu)SNV Uncertain significance 195342 rs202141764 15:91561076-91561076 15:91017846-91017846
39 VPS33B NM_018668.4(VPS33B):c.1685G>A (p.Ser562Asn)SNV Uncertain significance 499620 rs566630364 15:91542996-91542996 15:90999766-90999766
40 VPS33B NM_018668.4(VPS33B):c.*155A>GSNV Uncertain significance 317417 rs886051555 15:91542050-91542050 15:90998820-90998820
41 VPS33B NM_018668.4(VPS33B):c.941G>A (p.Arg314His)SNV Uncertain significance 317424 rs201698361 15:91549013-91549013 15:91005783-91005783
42 VPS33B NM_018668.4(VPS33B):c.680A>G (p.His227Arg)SNV Uncertain significance 317426 rs760894269 15:91550200-91550200 15:91006970-91006970
43 VPS33B NM_018668.4(VPS33B):c.-137A>GSNV Uncertain significance 317432 rs886051557 15:91565616-91565616 15:91022386-91022386
44 VPS33B NM_018668.4(VPS33B):c.363T>C (p.Tyr121=)SNV Benign/Likely benign 317429 rs149733667 15:91553071-91553071 15:91009841-91009841
45 VPS33B NM_018668.4(VPS33B):c.-8C>TSNV Benign/Likely benign 193396 rs11542639 15:91565487-91565487 15:91022257-91022257
46 VPS33B NM_018668.4(VPS33B):c.1671A>G (p.Glu557=)SNV Benign/Likely benign 261044 rs148071246 15:91543010-91543010 15:90999780-90999780
47 VPS33B NM_018668.4(VPS33B):c.1656A>T (p.Thr552=)SNV Benign/Likely benign 261042 rs16945153 15:91543131-91543131 15:90999901-90999901
48 VPS33B NM_018668.4(VPS33B):c.648C>T (p.Gly216=)SNV Benign/Likely benign 261047 rs59648701 15:91550232-91550232 15:91007002-91007002
49 VPS33B NM_018668.4(VPS33B):c.597C>T (p.Cys199=)SNV Benign/Likely benign 261046 rs60198611 15:91550705-91550705 15:91007475-91007475
50 VPS33B NM_018668.4(VPS33B):c.240-13_240-12deldeletion Benign/Likely benign 261045 rs111274092 15:91557675-91557676 15:91014445-91014446

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

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 membrane GO:0016020 10.43 VPS39 VPS33B VPS33A VPS18 VPS16 VPS11
2 cytoplasmic vesicle GO:0031410 10.11 VPS33B VPS33A VPS18 VPS16 VPS11 VIPAS39
3 Golgi apparatus GO:0005794 10.09 VPS33B VIPAS39 SNAP29 SLC35D3 RAB11A ATP8B1
4 lysosome GO:0005764 10.05 VPS39 VPS33B VPS33A VPS18 VPS16 VPS11
5 endosome GO:0005768 10.02 VPS8 VPS39 VPS33B VPS33A VPS18 VPS16
6 perinuclear region of cytoplasm GO:0048471 9.97 VPS33B VPS33A TSC1 RAB11A INF2
7 lysosomal membrane GO:0005765 9.97 VPS39 VPS33B VPS33A VPS18 VPS16 VPS11
8 late endosome membrane GO:0031902 9.91 VPS39 VPS33B VPS33A VPS18 VPS16 VPS11
9 autophagosome GO:0005776 9.89 VPS33A VPS18 VPS16 VPS11 SNAP29
10 clathrin-coated vesicle GO:0030136 9.88 VPS33B VPS33A VPS18 VPS16 VPS11
11 recycling endosome GO:0055037 9.83 VPS33B VPS16 VIPAS39 RAB11A
12 late endosome GO:0005770 9.8 VPS39 VPS33B VPS33A VPS18 VPS16 VPS11
13 actin filament GO:0005884 9.71 VPS18 VPS11 TSC1
14 AP-3 adaptor complex GO:0030123 9.71 VPS39 VPS33A VPS18 VPS11
15 early endosome GO:0005769 9.61 VPS8 VPS33B VPS33A VPS18 VPS16 VPS11
16 CORVET complex GO:0033263 9.46 VPS8 VPS18 VPS11 TGFBRAP1
17 HOPS complex GO:0030897 9.17 VPS39 VPS33B VPS33A VPS18 VPS16 VPS11

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.97 VPS39 VPS18 VPS16 VPS11 VIPAS39 TGFBRAP1
2 autophagy GO:0006914 9.88 VPS39 VPS33A VPS18 VPS16 VPS11 SNAP29
3 protein transport GO:0015031 9.77 VPS8 VPS39 VPS33B VPS33A VPS18 VPS16
4 vesicle-mediated transport GO:0016192 9.76 VPS39 VPS33B VPS33A VPS18 VPS11 TGFBRAP1
5 vesicle docking involved in exocytosis GO:0006904 9.73 VPS33B VPS33A VPS18 VPS11
6 autophagosome maturation GO:0097352 9.72 VPS33B VPS33A VPS16 VIPAS39 SNAP29
7 endosome organization GO:0007032 9.69 VPS33B VPS18 VPS11
8 lysosome localization GO:0032418 9.67 VPS33B VPS33A BLOC1S1
9 vacuole organization GO:0007033 9.65 VPS18 VPS16 VPS11
10 regulation of SNARE complex assembly GO:0035542 9.63 VPS18 VPS16 VPS11
11 bile acid and bile salt transport GO:0015721 9.58 ATP8B1 ABCB11
12 melanosome organization GO:0032438 9.57 LYST BLOC1S1
13 platelet formation GO:0030220 9.56 VPS33A NBEAL2
14 endosomal vesicle fusion GO:0034058 9.56 VPS8 VPS39 VPS11 TGFBRAP1
15 collagen metabolic process GO:0032963 9.55 VPS33B VIPAS39
16 peptidyl-lysine hydroxylation GO:0017185 9.54 VPS33B VIPAS39
17 melanosome localization GO:0032400 9.52 VPS33B VPS33A
18 endosome to lysosome transport GO:0008333 9.23 VPS39 VPS33B VPS33A VPS18 VPS16 VPS11

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

# Name GO ID Score Top Affiliating Genes
1 syntaxin binding GO:0019905 8.92 VPS18 VPS11 SNAP29 RAB11A

Sources for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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