ARCS1
MCID: ART062
MIFTS: 59

Arthrogryposis, Renal Dysfunction, and Cholestasis 1 (ARCS1)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

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

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

Name: Arthrogryposis, Renal Dysfunction, and Cholestasis 1 57 13
Arc Syndrome 57 12 76 53 75 15
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 76 53 29 6 73
Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome 76 53
Arthrogryposis, Renal Dysfunction, and Cholestasis 12 37
Renal Insufficiency 44 73
Arcs1 57 75
Arcs 57 75
Arthrogryposis Multiplex Congenita, Renal Dysfunction, and Cholestasis 53
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 12
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 1 75
Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 6
Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1 40
Arthrogryposis Renal Dysfunction and Cholestasis 1 75
Arthrogryposis - Renal Dysfunction - Cholestasis 53
Arthrogryposis-Renal Dysfunction-Cholestasis 12
Arc Syndrome; Arcs 57
Kidney Failure 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

MalaCards based summary : Arthrogryposis, Renal Dysfunction, and Cholestasis 1, also known as arc syndrome, is related to arthrogryposis, renal dysfunction, and cholestasis 2 and secondary hyperparathyroidism of renal origin, 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 is TBC/RABGAPs. The drugs Artesunate and Artemisinins have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and liver, and related phenotypes are low-set ears and muscular hypotonia

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 homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.

UniProtKB/Swiss-Prot : 75 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 : 76 Arthrogryposis´┐Ż??renal dysfunction´┐Ż??cholestasis syndrome (also known as "ARC syndrome") is a cutaneous... 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

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

(show top 50) (show all 423)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, renal dysfunction, and cholestasis 2 12.0
2 secondary hyperparathyroidism of renal origin 11.4
3 papillorenal syndrome 11.4
4 hypophosphatemic rickets, x-linked recessive 11.4
5 focal segmental glomerulosclerosis 1 11.2
6 nephrolithiasis, x-linked recessive, with renal failure 11.2
7 tafro syndrome 11.1
8 amyloidosis, hereditary, transthyretin-related 11.1
9 fanconi renotubular syndrome 1 11.1
10 dent disease 1 11.1
11 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 11.1
12 nephrotic syndrome, type 7 11.1
13 exudative vitreoretinopathy 1 11.0
14 mcdonough syndrome 11.0
15 exudative vitreoretinopathy 2, x-linked 11.0
16 exudative vitreoretinopathy 4 11.0
17 exudative vitreoretinopathy 5 11.0
18 exudative vitreoretinopathy 6 11.0
19 exudative vitreoretinopathy 7 11.0
20 photokeratitis 11.0
21 toxic pneumonitis 11.0
22 vesicoureteral reflux 1 10.9
23 polycystic kidney disease 4 with or without polycystic liver disease 10.9
24 mental retardation, x-linked, syndromic, martin-probst type 10.9
25 dent disease 2 10.9
26 polycystic kidney disease 3 with or without polycystic liver disease 10.9
27 focal segmental glomerulosclerosis 2 10.9
28 focal segmental glomerulosclerosis 3 10.9
29 congenital anomalies of kidney and urinary tract 1 10.9
30 vesicoureteral reflux 2 10.9
31 focal segmental glomerulosclerosis 4 10.9
32 focal segmental glomerulosclerosis 5 10.9
33 fanconi renotubular syndrome 2 10.9
34 vesicoureteral reflux 3 10.9
35 focal segmental glomerulosclerosis 6 10.9
36 fanconi renotubular syndrome 3 10.9
37 vesicoureteral reflux 8 10.9
38 focal segmental glomerulosclerosis 7 10.9
39 focal segmental glomerulosclerosis 8 10.9
40 focal segmental glomerulosclerosis 9 10.9
41 iga nephropathy 3 10.9
42 polycystic kidney disease 6 with or without polycystic liver disease 10.9
43 kleefstra syndrome 10.9
44 hepatic veno-occlusive disease 10.9
45 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 10.9
46 neural tube defects 10.6
47 nasopharyngeal carcinoma 10.3
48 distal arthrogryposis 10.3
49 cholestasis 10.3
50 prostate cancer 10.2

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 via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

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

Head And Neck Head:
microcephaly

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

Metabolic Features:
metabolic acidosis

Skeletal Feet:
talipes calcaneovalgus

Hematology:
severe bleeding after biopsies (uncommon)

Growth Other:
failure to thrive

Skeletal Pelvis:
hip dysplasia

Skin Nails Hair Skin:
ichthyosis
jaundice

Head And Neck Face:
micrognathia
sloping forehead

Skeletal:
arthrogryposis multiplex congenita
fractures at birth

Laboratory Abnormalities:
conjugated hyperbilirubinemia
abnormal liver function tests

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

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


Clinical features from OMIM:

208085

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

32 (show all 28)
# 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 occasional (7.5%) HP:0009806
11 micrognathia 32 HP:0000347
12 abnormal bleeding 32 occasional (7.5%) HP:0001892
13 atrial septal defect 32 HP:0001631
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 occasional (7.5%) HP:0001339
22 generalized hypotonia 32 HP:0001290
23 conjugated hyperbilirubinemia 32 HP:0002908
24 renal tubular acidosis 32 HP:0001947
25 talipes calcaneovalgus 32 HP:0001884
26 right ventricular hypertrophy 32 HP:0001667
27 giant cell hepatitis 32 HP:0200084
28 elevated hepatic transaminase 32 HP:0002910

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


icterus

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

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

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

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Artesunate Approved, Investigational Not Applicable 88495-63-0 5464098 6917864
2 Artemisinins Not Applicable
3 Artemisinine Not Applicable
4 Antiparasitic Agents Not Applicable
5 Anti-Infective Agents Not Applicable
6 Antimalarials Not Applicable
7 Antiprotozoal Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Artemisinin Resistance in Cambodia II Completed NCT00722150 Not Applicable Artesunate;Artesunate;Artesunate
2 Family Meal Duration and Children's Eating Behavior Recruiting NCT03127579 Not Applicable
3 Demonstrating the Diagnostic Power of an Electronic Nose: Study on Exhaled Air Samples Not yet recruiting NCT03721042 Not Applicable

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

Cochrane evidence based reviews: renal insufficiency

Genetic Tests for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

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

Anatomical Context for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

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

Publications for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

(show all 33)
# Title Authors Year
1
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney. ( 30093463 )
2018
2
ARC syndrome. ( 29624233 )
2017
3
ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination. ( 27496733 )
2016
4
The Role of Platelets and I/-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage. ( 26505894 )
2015
5
ARC syndrome with high GGT cholestasis caused by VPS33B mutations. ( 24782640 )
2014
6
ArthrogryposisA?renal dysfunctionA?cholestasis (ARC) syndrome: from molecular genetics to clinical features. ( 25239142 )
2014
7
ARC Syndrome Due to VIPAR Mutation is Another Cause of Neonatal Cholestasis with Normal Serum Gammaglutamyl Transferase Activity. ( 23636179 )
2013
8
ARC syndrome in preterm baby. ( 24071963 )
2013
9
Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report. ( 23622807 )
2013
10
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. ( 22753090 )
2012
11
ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus. ( 22805396 )
2012
12
Agranular platelets as a cardinal feature of ARC syndrome. ( 20224444 )
2010
13
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. ( 18853461 )
2009
14
Clinical characteristics and VPS33B mutations in patients with ARC syndrome. ( 19274792 )
2009
15
Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. ( 18972129 )
2009
16
A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth. ( 17994566 )
2007
17
VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. ( 16492441 )
2006
18
Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene. ( 16758438 )
2006
19
Clinical and molecular genetic features of ARC syndrome. ( 16896922 )
2006
20
Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review. ( 16155421 )
2005
21
ARC syndrome. ( 15981766 )
2005
22
Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis. ( 16354257 )
2005
23
Liver biopsy complicated by hemorrhage in a patient with ARC syndrome. ( 15500499 )
2004
24
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. ( 15052268 )
2004
25
ARC syndrome: an expanding range of phenotypes. ( 12138079 )
2002
26
ARC syndrome is not so rare. ( 11897818 )
2002
27
ARC syndrome: an expanding range of phenotypes. ( 11668108 )
2001
28
Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)? ( 9332665 )
1997
29
Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. ( 8151641 )
1994
30
The four-in-one arthroplasty for the painful arc syndrome. ( 7067240 )
1982
31
Subacromial bursitis with loose bodies as a cause of refractory painful-arc syndrome. A case report. ( 7430208 )
1980
32
The refractory painful arc syndrome. ( 711806 )
1978
33
The painful arc syndrome. Clinical classification as a guide to management. ( 873977 )
1977

Variations for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

75
# 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 (show top 50) (show all 102)
# 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.1594C> T (p.Arg532Ter) single nucleotide variant Pathogenic rs121434383 GRCh38 Chromosome 15, 90999963: 90999963
3 VPS33B NM_018668.4(VPS33B): c.1312C> T (p.Arg438Ter) single nucleotide variant Pathogenic rs121434384 GRCh37 Chromosome 15, 91545373: 91545373
4 VPS33B NM_018668.4(VPS33B): c.1312C> T (p.Arg438Ter) single nucleotide variant Pathogenic rs121434384 GRCh38 Chromosome 15, 91002143: 91002143
5 VPS33B NM_018668.4(VPS33B): c.89T> C (p.Leu30Pro) single nucleotide variant Pathogenic rs121434385 GRCh37 Chromosome 15, 91565391: 91565391
6 VPS33B NM_018668.4(VPS33B): c.89T> C (p.Leu30Pro) single nucleotide variant Pathogenic rs121434385 GRCh38 Chromosome 15, 91022161: 91022161
7 VPS33B NM_018668.4(VPS33B): c.700+1G> A single nucleotide variant Pathogenic rs794726658 GRCh38 Chromosome 15, 91006949: 91006949
8 VPS33B NM_018668.4(VPS33B): c.700+1G> A single nucleotide variant Pathogenic rs794726658 GRCh37 Chromosome 15, 91550179: 91550179
9 TSC1 NM_000368.4(TSC1): c.989dupT (p.Ser331Glufs) duplication Pathogenic rs118203478 GRCh37 Chromosome 9, 135786880: 135786880
10 TSC1 NM_000368.4(TSC1): c.989dupT (p.Ser331Glufs) duplication Pathogenic rs118203478 GRCh38 Chromosome 9, 132911493: 132911493
11 VPS33B NM_018668.3(VPS33B): c.240-577_290-156del deletion Pathogenic GRCh37 Chromosome 15, 91557257: 91558240
12 VPS33B NM_018668.3(VPS33B): c.240-577_290-156del deletion Pathogenic GRCh38 Chromosome 15, 91014027: 91015010
13 VPS33B NM_018668.4(VPS33B): c.1225+5G> C single nucleotide variant Conflicting interpretations of pathogenicity rs398122407 GRCh37 Chromosome 15, 91548102: 91548102
14 VPS33B NM_018668.4(VPS33B): c.1225+5G> C single nucleotide variant Conflicting interpretations of pathogenicity rs398122407 GRCh38 Chromosome 15, 91004872: 91004872
15 VPS33B NM_018668.4(VPS33B): c.1261_1262delCA (p.Gln421Valfs) deletion Pathogenic rs398122408 GRCh37 Chromosome 15, 91546325: 91546326
16 VPS33B NM_018668.4(VPS33B): c.1261_1262delCA (p.Gln421Valfs) deletion Pathogenic rs398122408 GRCh38 Chromosome 15, 91003095: 91003096
17 VPS33B NM_018668.4(VPS33B): c.-8C> T single nucleotide variant Benign/Likely benign rs11542639 GRCh37 Chromosome 15, 91565487: 91565487
18 VPS33B NM_018668.4(VPS33B): c.-8C> T single nucleotide variant Benign/Likely benign rs11542639 GRCh38 Chromosome 15, 91022257: 91022257
19 VPS33B NM_018668.4(VPS33B): c.133C> A (p.Leu45Ile) single nucleotide variant Uncertain significance rs199874738 GRCh37 Chromosome 15, 91561079: 91561079
20 VPS33B NM_018668.4(VPS33B): c.133C> A (p.Leu45Ile) single nucleotide variant Uncertain significance rs199874738 GRCh38 Chromosome 15, 91017849: 91017849
21 VPS33B NM_018668.4(VPS33B): c.136A> T (p.Met46Leu) single nucleotide variant Uncertain significance rs202141764 GRCh37 Chromosome 15, 91561076: 91561076
22 VPS33B NM_018668.4(VPS33B): c.136A> T (p.Met46Leu) single nucleotide variant Uncertain significance rs202141764 GRCh38 Chromosome 15, 91017846: 91017846
23 VPS33B NM_018668.4(VPS33B): c.1701C> T (p.Leu567=) single nucleotide variant Conflicting interpretations of pathogenicity rs146999653 GRCh37 Chromosome 15, 91542980: 91542980
24 VPS33B NM_018668.4(VPS33B): c.1701C> T (p.Leu567=) single nucleotide variant Conflicting interpretations of pathogenicity rs146999653 GRCh38 Chromosome 15, 90999750: 90999750
25 VPS33B NM_018668.4(VPS33B): c.1130G> C (p.Arg377Pro) single nucleotide variant association rs864622006 GRCh38 Chromosome 15, 91005095: 91005095
26 VPS33B NM_018668.4(VPS33B): c.1130G> C (p.Arg377Pro) single nucleotide variant association rs864622006 GRCh37 Chromosome 15, 91548325: 91548325
27 VPS33B NM_018668.4(VPS33B): c.1671A> G (p.Glu557=) single nucleotide variant Benign/Likely benign rs148071246 GRCh37 Chromosome 15, 91543010: 91543010
28 VPS33B NM_018668.4(VPS33B): c.1671A> G (p.Glu557=) single nucleotide variant Benign/Likely benign rs148071246 GRCh38 Chromosome 15, 90999780: 90999780
29 VPS33B NM_018668.4(VPS33B): c.1656A> T (p.Thr552=) single nucleotide variant Benign/Likely benign rs16945153 GRCh38 Chromosome 15, 90999901: 90999901
30 VPS33B NM_018668.4(VPS33B): c.1656A> T (p.Thr552=) single nucleotide variant Benign/Likely benign rs16945153 GRCh37 Chromosome 15, 91543131: 91543131
31 VPS33B NM_018668.4(VPS33B): c.1540G> A (p.Gly514Ser) single nucleotide variant Benign rs11073964 GRCh37 Chromosome 15, 91543761: 91543761
32 VPS33B NM_018668.4(VPS33B): c.1540G> A (p.Gly514Ser) single nucleotide variant Benign rs11073964 GRCh38 Chromosome 15, 91000531: 91000531
33 VPS33B NM_018668.4(VPS33B): c.1105+9C> T single nucleotide variant Benign rs3826033 GRCh37 Chromosome 15, 91548601: 91548601
34 VPS33B NM_018668.4(VPS33B): c.1105+9C> T single nucleotide variant Benign rs3826033 GRCh38 Chromosome 15, 91005371: 91005371
35 VPS33B NM_018668.4(VPS33B): c.648C> T (p.Gly216=) single nucleotide variant Benign/Likely benign rs59648701 GRCh37 Chromosome 15, 91550232: 91550232
36 VPS33B NM_018668.4(VPS33B): c.648C> T (p.Gly216=) single nucleotide variant Benign/Likely benign rs59648701 GRCh38 Chromosome 15, 91007002: 91007002
37 VPS33B NM_018668.4(VPS33B): c.597C> T (p.Cys199=) single nucleotide variant Benign/Likely benign rs60198611 GRCh38 Chromosome 15, 91007475: 91007475
38 VPS33B NM_018668.4(VPS33B): c.597C> T (p.Cys199=) single nucleotide variant Benign/Likely benign rs60198611 GRCh37 Chromosome 15, 91550705: 91550705
39 VPS33B NM_018668.4(VPS33B): c.240-13_240-12delTT deletion Benign/Likely benign rs111274092 GRCh38 Chromosome 15, 91014445: 91014446
40 VPS33B NM_018668.4(VPS33B): c.240-13_240-12delTT deletion Benign/Likely benign rs111274092 GRCh37 Chromosome 15, 91557675: 91557676
41 VPS33B NM_018668.4(VPS33B): c.151C> A (p.Arg51=) single nucleotide variant Benign/Likely benign rs11542638 GRCh37 Chromosome 15, 91561061: 91561061
42 VPS33B NM_018668.4(VPS33B): c.151C> A (p.Arg51=) single nucleotide variant Benign/Likely benign rs11542638 GRCh38 Chromosome 15, 91017831: 91017831
43 VPS33B NM_018668.4(VPS33B): c.1616delA (p.Glu539Glyfs) deletion Pathogenic rs886043445 GRCh37 Chromosome 15, 91543171: 91543171
44 VPS33B NM_018668.4(VPS33B): c.1616delA (p.Glu539Glyfs) deletion Pathogenic rs886043445 GRCh38 Chromosome 15, 90999941: 90999941
45 VPS33B NM_018668.4(VPS33B): c.944G> A (p.Arg315Gln) single nucleotide variant Uncertain significance rs145303578 GRCh37 Chromosome 15, 91549010: 91549010
46 VPS33B NM_018668.4(VPS33B): c.944G> A (p.Arg315Gln) single nucleotide variant Uncertain significance rs145303578 GRCh38 Chromosome 15, 91005780: 91005780
47 VPS33B NM_018668.4(VPS33B): c.*262T> G single nucleotide variant Uncertain significance rs886051554 GRCh38 Chromosome 15, 90998713: 90998713
48 VPS33B NM_018668.4(VPS33B): c.*262T> G single nucleotide variant Uncertain significance rs886051554 GRCh37 Chromosome 15, 91541943: 91541943
49 VPS33B NM_018668.4(VPS33B): c.1332G> A (p.Thr444=) single nucleotide variant Uncertain significance rs147407982 GRCh38 Chromosome 15, 91002123: 91002123
50 VPS33B NM_018668.4(VPS33B): c.1332G> A (p.Thr444=) single nucleotide variant Uncertain significance rs147407982 GRCh37 Chromosome 15, 91545353: 91545353

Expression for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

Pathways for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

# Super pathways Score Top Affiliating Genes
1 10.3 RAB7A TSC1

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 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.88 RAB7A VIPAS39 VPS16 VPS33A VPS33B
2 perinuclear region of cytoplasm GO:0048471 9.83 INF2 TSC1 VPS33A VPS33B
3 lysosome GO:0005764 9.83 RAB7A VPS16 VPS33A VPS33B VPS39
4 lysosomal membrane GO:0005765 9.8 RAB7A VPS16 VPS33A VPS33B VPS39
5 early endosome GO:0005769 9.77 TGFBRAP1 VIPAS39 VPS16 VPS33A VPS33B
6 endosome GO:0005768 9.7 RAB7A TGFBRAP1 VIPAS39 VPS16 VPS33A VPS33B
7 recycling endosome GO:0055037 9.69 VIPAS39 VPS16 VPS33B
8 late endosome membrane GO:0031902 9.65 RAB7A VPS16 VPS33A VPS33B VPS39
9 clathrin-coated vesicle GO:0030136 9.63 VPS16 VPS33A VPS33B
10 lipid droplet GO:0005811 9.55 RAB7A TSC1
11 autophagosome GO:0005776 9.54 VPS16 VPS33A
12 AP-3 adaptor complex GO:0030123 9.5 VPS33A VPS33B VPS39
13 clathrin complex GO:0071439 9.49 VPS33A VPS33B
14 late endosome GO:0005770 9.43 RAB7A VIPAS39 VPS16 VPS33A VPS33B VPS39
15 HOPS complex GO:0030897 9.02 VIPAS39 VPS16 VPS33A VPS33B VPS39
16 cytoplasm GO:0005737 10.16 INF2 RAB7A TGFBRAP1 TSC1 VIPAS39 VPS16

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.71 TGFBRAP1 VPS33A VPS33B VPS39
2 protein transport GO:0015031 9.7 RAB7A TGFBRAP1 VIPAS39 VPS16 VPS33A VPS33B
3 intracellular protein transport GO:0006886 9.65 RAB7A TGFBRAP1 VIPAS39 VPS16 VPS39
4 autophagy GO:0006914 9.62 RAB7A VPS16 VPS33A VPS39
5 vesicle docking involved in exocytosis GO:0006904 9.52 VPS33A VPS33B
6 lysosome localization GO:0032418 9.51 VPS33A VPS33B
7 platelet formation GO:0030220 9.49 NBEAL2 VPS33A
8 collagen metabolic process GO:0032963 9.48 VIPAS39 VPS33B
9 endosomal vesicle fusion GO:0034058 9.46 TGFBRAP1 VPS39
10 peptidyl-lysine hydroxylation GO:0017185 9.43 VIPAS39 VPS33B
11 melanosome localization GO:0032400 9.37 VPS33A VPS33B
12 autophagosome maturation GO:0097352 9.26 VIPAS39 VPS16 VPS33A VPS33B
13 endosome to lysosome transport GO:0008333 9.17 RAB7A TGFBRAP1 VIPAS39 VPS16 VPS33A VPS33B

Sources for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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