ARCS1
MCID: ART062
MIFTS: 52

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 58 13
Arc Syndrome 58 12 77 54 76 15
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 77 54 30 6 74
Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome 77 54
Arthrogryposis, Renal Dysfunction, and Cholestasis 12 38
Renal Insufficiency 45 74
Arcs1 58 76
Arcs 58 76
Arthrogryposis Multiplex Congenita, Renal Dysfunction, and Cholestasis 54
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 12
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 1 76
Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 6
Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1 41
Arthrogryposis Renal Dysfunction and Cholestasis 1 76
Arthrogryposis - Renal Dysfunction - Cholestasis 54
Arthrogryposis-Renal Dysfunction-Cholestasis 12
Arc Syndrome; Arcs 58
Kidney Failure 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
arthrogryposis, renal dysfunction, and cholestasis 1:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

NIH Rare Diseases : 54 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 Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and skin, 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. 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 : 76 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 : 77 Arthrogryposis–renal dysfunction–cholestasis syndrome is a cutaneous condition caused by a mutation in... 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 507)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, renal dysfunction, and cholestasis 2 12.2
2 secondary hyperparathyroidism of renal origin 11.5
3 papillorenal syndrome 11.4
4 hypophosphatemic rickets, x-linked recessive 11.4
5 exudative vitreoretinopathy 1 11.4
6 focal segmental glomerulosclerosis 1 11.3
7 nephrolithiasis, x-linked recessive, with renal failure 11.2
8 tafro syndrome 11.1
9 amyloidosis, hereditary, transthyretin-related 11.1
10 fanconi renotubular syndrome 1 11.1
11 dent disease 1 11.1
12 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 11.1
13 nephrotic syndrome, type 7 11.1
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 11.0
23 polycystic kidney disease 4 with or without polycystic liver disease 11.0
24 mental retardation, x-linked, syndromic, martin-probst type 11.0
25 dent disease 2 11.0
26 polycystic kidney disease 3 with or without polycystic liver disease 11.0
27 focal segmental glomerulosclerosis 2 11.0
28 focal segmental glomerulosclerosis 3 11.0
29 congenital anomalies of kidney and urinary tract 1 11.0
30 vesicoureteral reflux 2 11.0
31 focal segmental glomerulosclerosis 4 11.0
32 focal segmental glomerulosclerosis 5 11.0
33 fanconi renotubular syndrome 2 11.0
34 vesicoureteral reflux 3 11.0
35 focal segmental glomerulosclerosis 6 11.0
36 fanconi renotubular syndrome 3 11.0
37 vesicoureteral reflux 8 11.0
38 focal segmental glomerulosclerosis 7 11.0
39 focal segmental glomerulosclerosis 8 11.0
40 focal segmental glomerulosclerosis 9 11.0
41 iga nephropathy 3 11.0
42 polycystic kidney disease 6 with or without polycystic liver disease 11.0
43 kleefstra syndrome 11.0
44 hepatic veno-occlusive disease 11.0
45 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 11.0
46 neural tube defects 10.6
47 nasopharyngeal carcinoma 10.4
48 kidney disease 10.4
49 prostate cancer 10.3
50 rere-related disorders 10.3

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:

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 nephrogenic diabetes insipidus 33 occasional (7.5%) HP:0009806
2 abnormal bleeding 33 occasional (7.5%) HP:0001892
3 lissencephaly 33 occasional (7.5%) HP:0001339
4 low-set ears 33 HP:0000369
5 muscular hypotonia 33 HP:0001252
6 failure to thrive 33 HP:0001508
7 global developmental delay 33 HP:0001263
8 hip dysplasia 33 HP:0001385
9 microcephaly 33 HP:0000252
10 ichthyosis 33 HP:0008064
11 nephropathy 33 HP:0000112
12 dehydration 33 HP:0001944
13 micrognathia 33 HP:0000347
14 elevated hepatic transaminase 33 HP:0002910
15 atrial septal defect 33 HP:0001631
16 cholestatic liver disease 33 HP:0002611
17 jaundice 33 HP:0000952
18 arthrogryposis multiplex congenita 33 HP:0002804
19 ventricular septal defect 33 HP:0001629
20 nephrocalcinosis 33 HP:0000121
21 metabolic acidosis 33 HP:0001942
22 sloping forehead 33 HP:0000340
23 generalized hypotonia 33 HP:0001290
24 conjugated hyperbilirubinemia 33 HP:0002908
25 renal tubular acidosis 33 HP:0001947
26 talipes calcaneovalgus 33 HP:0001884
27 right ventricular hypertrophy 33 HP:0001667
28 giant cell hepatitis 33 HP:0200084

Symptoms via clinical synopsis from OMIM:

58
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

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:

27
# 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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Artesunate Approved, Investigational Not Applicable 88495-63-0 5464098 6917864
2 Anti-Infective Agents Not Applicable
3 Antimalarials Not Applicable
4 Antiviral Agents Not Applicable
5 Artemisinine Not Applicable
6 Artemisinins Not Applicable
7 Antiparasitic Agents Not Applicable
8 Antiprotozoal Agents Not Applicable
9 Anthelmintics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Family Meal Duration and Children's Eating Behavior Unknown status NCT03127579 Not Applicable
2 Artemisinin Resistance in Cambodia II Completed NCT00722150 Not Applicable Artesunate;Artesunate;Artesunate

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 30 VPS33B

Anatomical Context for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

42
Kidney, Liver, Skin, Bone, Heart, Breast, Prostate

Publications for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

(show all 34)
# Title Authors Year
1
A Novel VPS33B Mutation Causing a Mild Phenotype of ARC Syndrome. ( 30747815 )
2019
2
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney. ( 30093463 )
2018
3
ARC syndrome. ( 29624233 )
2017
4
The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage. ( 26505894 )
2016
5
Constipation as an Atypical Sign of ARC Syndrome - Case Report. ( 30568833 )
2016
6
ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination. ( 27496733 )
2016
7
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. ( 25239142 )
2014
8
ARC syndrome with high GGT cholestasis caused by VPS33B mutations. ( 24782640 )
2014
9
Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report. ( 23622807 )
2013
10
ARC syndrome in preterm baby. ( 24071963 )
2013
11
ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus. ( 22805396 )
2012
12
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. ( 22753090 )
2012
13
Agranular platelets as a cardinal feature of ARC syndrome. ( 20224444 )
2010
14
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. ( 18853461 )
2009
15
Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. ( 18972129 )
2009
16
Clinical characteristics and VPS33B mutations in patients with ARC syndrome. ( 19274792 )
2009
17
A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth. ( 17994566 )
2007
18
VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. ( 16492441 )
2006
19
Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene. ( 16758438 )
2006
20
Clinical and molecular genetic features of ARC syndrome. ( 16896922 )
2006
21
Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review. ( 16155421 )
2005
22
Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis. ( 16354257 )
2005
23
ARC syndrome. ( 15981766 )
2005
24
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. ( 15052268 )
2004
25
Liver biopsy complicated by hemorrhage in a patient with ARC syndrome. ( 15500499 )
2004
26
ARC syndrome is not so rare. ( 11897818 )
2002
27
ARC syndrome: an expanding range of phenotypes. ( 12138079 )
2002
28
ARC syndrome: an expanding range of phenotypes. ( 11668108 )
2001
29
Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)? ( 9332665 )
1997
30
Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. ( 8151641 )
1994
31
The four-in-one arthroplasty for the painful arc syndrome. ( 7067240 )
1982
32
Subacromial bursitis with loose bodies as a cause of refractory painful-arc syndrome. A case report. ( 7430208 )
1980
33
The refractory painful arc syndrome. ( 711806 )
1978
34
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:

76
# 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 100)
# 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 rs1555460030 GRCh37 Chromosome 15, 91557257: 91558240
12 VPS33B NM_018668.3(VPS33B): c.240-577_290-156del deletion Pathogenic rs1555460030 GRCh38 Chromosome 15, 91014027: 91015010
13 VPS33B NM_018668.4(VPS33B): c.1225+5G> C single nucleotide variant Pathogenic/Likely pathogenic rs398122407 GRCh37 Chromosome 15, 91548102: 91548102
14 VPS33B NM_018668.4(VPS33B): c.1225+5G> C single nucleotide variant Pathogenic/Likely pathogenic rs398122407 GRCh38 Chromosome 15, 91004872: 91004872
15 VPS33B NM_018668.4(VPS33B): c.1261_1262del (p.Gln421Valfs) deletion Pathogenic rs398122408 GRCh37 Chromosome 15, 91546325: 91546326
16 VPS33B NM_018668.4(VPS33B): c.1261_1262del (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_240-12del deletion Benign/Likely benign rs111274092 GRCh38 Chromosome 15, 91014445: 91014446
40 VPS33B NM_018668.4(VPS33B): c.240-13_240-12del 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.944G> A (p.Arg315Gln) single nucleotide variant Uncertain significance rs145303578 GRCh37 Chromosome 15, 91549010: 91549010
44 VPS33B NM_018668.4(VPS33B): c.944G> A (p.Arg315Gln) single nucleotide variant Uncertain significance rs145303578 GRCh38 Chromosome 15, 91005780: 91005780
45 VPS33B NM_018668.4(VPS33B): c.*262T> G single nucleotide variant Uncertain significance rs886051554 GRCh38 Chromosome 15, 90998713: 90998713
46 VPS33B NM_018668.4(VPS33B): c.*262T> G single nucleotide variant Uncertain significance rs886051554 GRCh37 Chromosome 15, 91541943: 91541943
47 VPS33B NM_018668.4(VPS33B): c.1332G> A (p.Thr444=) single nucleotide variant Uncertain significance rs147407982 GRCh38 Chromosome 15, 91002123: 91002123
48 VPS33B NM_018668.4(VPS33B): c.1332G> A (p.Thr444=) single nucleotide variant Uncertain significance rs147407982 GRCh37 Chromosome 15, 91545353: 91545353
49 VPS33B NM_018668.4(VPS33B): c.868C> T (p.Arg290Trp) single nucleotide variant Uncertain significance rs750350100 GRCh38 Chromosome 15, 91006044: 91006044
50 VPS33B NM_018668.4(VPS33B): c.868C> T (p.Arg290Trp) single nucleotide variant Uncertain significance rs750350100 GRCh37 Chromosome 15, 91549274: 91549274

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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