MCID: ART062
MIFTS: 42

Arthrogryposis, Renal Dysfunction, and Cholestasis 1 malady

Genetic diseases, Rare diseases, Nephrological diseases categories

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

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

Name: Arthrogryposis, Renal Dysfunction, and Cholestasis 1 49 11
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 45 22 24 65
Arc Syndrome 10 45 12 67
Arthrogryposis Multiplex Congenita, Renal Dysfunction, and Cholestasis 45
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 10
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 1 67
 
Arthrogryposis Renal Dysfunction and Cholestasis 1 67
Arthrogryposis, Renal Dysfunction, and Cholestasis 10
Arthrogryposis-Renal Dysfunction-Cholestasis 10
Arcs1 67
Arcs 67


Classifications:



External Ids:

OMIM49 208085
Disease Ontology10 DOID:0050763
MedGen34 C1859722

Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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UniProtKB/Swiss-Prot:67 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.

MalaCards based summary: Arthrogryposis, Renal Dysfunction, and Cholestasis 1, also known as arthrogryposis renal dysfunction cholestasis syndrome, is related to arthrogryposis, renal dysfunction, and cholestasis 2 and vipas39-related arthrogryposis, renal dysfunction, and cholestasis syndrome, and has symptoms including lissencephaly, abnormal bleeding and nephrogenic diabetes insipidus. An important gene associated with Arthrogryposis, Renal Dysfunction, and Cholestasis 1 is VPS33B (Vacuolar Protein Sorting 33 Homolog B (Yeast)), and among its related pathways is Delta508-CFTR traffic / Sorting endosome formation in CF. Affiliated tissues include vps33b gene and liver, and related mouse phenotype liver/biliary system.

Disease Ontology:10 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, caused by homozygous or compound heterozygous mutation located in vps33b gene.

Description from OMIM:49 208085

Related Diseases for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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Diseases in the Arthrogryposis, Renal Dysfunction, and Cholestasis 1 family:

Arthrogryposis, Renal Dysfunction, and Cholestasis 2 Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
Vps33b-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome

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

(show top 50)    (show all 232)
idRelated DiseaseScoreTop Affiliating Genes
1arthrogryposis, renal dysfunction, and cholestasis 210.8
2vipas39-related arthrogryposis, renal dysfunction, and cholestasis syndrome10.7
3human immunodeficiency virus infectious disease10.6
4ipex syndrome10.6
5acquired immunodeficiency syndrome10.5
6child syndrome10.5
7nutritional deficiency disease10.5
8kid syndrome10.5
9cholestasis10.5
10sexual disorder10.5
11drug rash with eosinophilia and systemic symptoms10.4
12vps33b-related arthrogryposis, renal dysfunction, and cholestasis syndrome10.4
13immunodeficiency 2410.3
14n syndrome10.3
15viral infectious disease10.3
16c syndrome10.3
17gamma chain deficiency10.3
18ichthyosis10.2
19neuroblastoma10.2
20prostate cancer10.2
21neuronitis10.2
22cd4 deficiency10.2
23acid sphingomyelinase deficiency10.2ABCB11, ATP8B1
24lrba-related common variable immune deficiency with autoimmunity10.2ABCB11, ATP8B1
25cholestasis, progressive familial intrahepatic 210.1ABCB11, ATP8B1
26diabetes insipidus10.1
27cholestasis, intrahepatic, of pregnancy, 110.1ABCB11, ATP8B1
28hiv-110.1
29hepatocellular carcinoma10.1
30esophageal cancer10.1
31aplastic anemia10.1
32angelman syndrome10.1
33west syndrome10.1
34severe combined immunodeficiency10.1
35siderosis10.1
36central nervous system cancer10.1
37esophagitis10.1
38giant cell tumor10.1
39kidney cancer10.1
40mouth disease10.1
41nervous system cancer10.1
42peripheral nervous system disease10.1
43eaf10.1
44severe combined immune deficiency10.1
45mesothelioma10.1
46cholestasis, progressive familial intrahepatic 310.1ABCB11, ATP8B1
47cholestasis, benign recurrent intrahepatic10.1ABCB11, ATP8B1
48biliary tract neoplasm10.1ABCB11, ATP8B1
49rheumatoid arthritis10.0
50immunodeficiency 2510.0

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 for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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Symptoms by clinical synopsis from OMIM:

208085

Clinical features from OMIM:

208085

HPO human phenotypes related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1:

(show all 29)
id Description Frequency HPO Source Accession
1 lissencephaly rare (5%) HP:0001339
2 abnormal bleeding rare (5%) HP:0001892
3 nephrogenic diabetes insipidus rare (5%) HP:0009806
4 autosomal recessive inheritance HP:0000007
5 nephropathy HP:0000112
6 nephrocalcinosis HP:0000121
7 microcephaly HP:0000252
8 sloping forehead HP:0000340
9 micrognathia HP:0000347
10 low-set ears HP:0000369
11 jaundice HP:0000952
12 muscular hypotonia HP:0001252
13 global developmental delay HP:0001263
14 hip dysplasia HP:0001385
15 failure to thrive HP:0001508
16 death in infancy HP:0001522
17 ventricular septal defect HP:0001629
18 atria septal defect HP:0001631
19 right ventricular hypertrophy HP:0001667
20 talipes calcaneovalgus HP:0001884
21 metabolic acidosis HP:0001942
22 dehydration HP:0001944
23 renal tubular acidosis HP:0001947
24 cholestatic liver disease HP:0002611
25 arthrogryposis multiplex congenita HP:0002804
26 conjugated hyperbilirubinemia HP:0002908
27 elevated hepatic transaminases HP:0002910
28 ichthyosis HP:0008064
29 giant cell hepatitis HP:0200084

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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Artesunate16688495-63-06917864, 5464098
Synonyms:
(3R,5aS,6R,8aS,9R,10S,12R,12aR)-Decahydro-3,6,9-trimethyl-3,12-epoxy-12H-pyrano(4,3-j)-1,2-benzodioxepin-10-ol, hydrogen succinate
112346-66-4
182824-33-5
252637-87-9
4-Oxo-4-(((3R,5aS,6R,8aS,9R,10S,12R,12aR)-3,6,9-trimethyldecahydro-3,12-epoxypyrano(4,3-j)-1,2-benzodioxepin-10-yl hydrogen butanedioate
4-oxo-4-{[(3r,5as,6r,8as,9r,10r,12r,12ar)-3,6,9-trimethyldecahydro-3,12-epoxy[1,2]dioxepino[4,3-i]isochromen-10-yl]oxy}butanoic acid
4-oxo-4-{[(5aS,6R,8aS,9R,10S,12R,12aR)-3,6,9-trimethyldecahydro-3,12-epoxy[1,2]dioxepino[4,3-i]isochromen-10-yl]oxy}butanoic acid
83507-69-1
88495-63-0
91487-94-4
AC1L23PW
AC1L2XWW
AC1L4FU0
AC1Q5VRV
AKOS004119951
Ambap88495-63-0
Arinate
Arsumax
Arsumax (TN)
Artesunate
Artesunate (USAN)
Artesunate (superseded RN)
Artesunato
Artesunato [INN-Spanish]
Artesunatum
Artesunatum [INN-Latin]
Artesunic acid
Artsuna
BB_NC-1045
Butanedioic acid, mono((3R,5aS,6R,8aS,9R,10S,12R,12aR)-decahydro-3,6,9-trimethyl-3,12-epoxy-12H-pyrano(4,3-j)-1,2-benzodioxepin-10-yl) ester
Butanedioic acid, mono(decahydro-3,6,9-trimethyl-3,12-epoxy-12H-pyrano(4,3-j)-1,2-benzodioxepin-10-yl) ester
C19H28O8
CHEMBL218601
CHEMBL258608
CID105031
CID11520210
 
CID11988384
CID156252
CID5464098
CID65664
CID6917864
CID9821433
CPD000466336
D02482
Dihydroartemisinine-12-alpha-succinate
Dihydroqinghaosusuccinate
Dihydroqinghasu hemsuccinate
FT-0082543
HMS2051I14
HMS2090L16
HSDB 7458
I06-0204
LS-177760
LS-187735
MLS000759445
MLS001424053
MolPort-001-732-325
MolPort-006-392-384
NCI60_039350
NSC712571
Nuartez
Plasmotrim
Plasmotrin
Qinghaozhi
Quinghaosu reduced succinate ester
S2265_Selleck
SAM001246628
SM 804
SMR000466336
STK801911
Succinyl dihydroartemisinin
UNII-60W3249T9M
WR 256283
WR-256283
2Artemisinins190
3Artemisinine190

Interventional clinical trials:

idNameStatusNCT IDPhase
1Artemisinin Resistance in Cambodia IICompletedNCT00722150

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

Genetic Tests for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

id Genetic test Affiliating Genes
1 Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome22 VPS33B
2 Arthrogryposis Renal Dysfunction Cholestasis Syndrome24

Anatomical Context for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

33
Liver

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

16
Vps33b gene

Animal Models for Arthrogryposis, Renal Dysfunction, and Cholestasis 1 or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.7ABCB11, ATP8B1, HNF1B, NF2, ONECUT1, SELP

Publications for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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Variations for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

67
id Symbol AA change Variation ID SNP ID
1VPS33Bp.Leu30ProVAR_018983
2VPS33Bp.Ser243PheVAR_057901

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1VPS33BNM_018668.4(VPS33B): c.1594C> T (p.Arg532Ter)single nucleotide variantPathogenicrs121434383GRCh37Chr 15, 91543193: 91543193
2VPS33BNM_018668.4(VPS33B): c.1312C> T (p.Arg438Ter)single nucleotide variantPathogenicrs121434384GRCh37Chr 15, 91545373: 91545373
3VPS33BNM_018668.4(VPS33B): c.89T> C (p.Leu30Pro)single nucleotide variantPathogenicrs121434385GRCh37Chr 15, 91565391: 91565391
4VPS33BNM_018668.4(VPS33B): c.700+1G> Asingle nucleotide variantPathogenicrs794726658GRCh38Chr 15, 91006949: 91006949
5VPS33BNM_018668.3(VPS33B): c.240-577_290-156deldeletionPathogenicGRCh37Chr 15, 91557257: 91558240
6VPS33BNM_018668.4(VPS33B): c.1225+5G> Csingle nucleotide variantPathogenicrs398122407GRCh37Chr 15, 91548102: 91548102
7VPS33BNM_018668.4(VPS33B): c.1261_1262delCA (p.Gln421Valfs)deletionPathogenicrs398122408GRCh37Chr 15, 91546325: 91546326

Expression for genes affiliated with Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

Pathways for genes affiliated with Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7NSF, RAB7A

GO Terms for genes affiliated with Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

idNameGO IDScoreTop Affiliating Genes
1AP-3 adaptor complexGO:003012310.1VPS18, VPS33B
2recycling endosomeGO:00550379.8VIPAS39, VPS16, VPS33B
3clathrin-coated vesicleGO:00301369.4VPS16, VPS18, VPS33B
4HOPS complexGO:00308979.3VIPAS39, VPS16, VPS18, VPS33B
5late endosome membraneGO:00319029.2RAB7A, VPS16, VPS18, VPS33B
6lysosomeGO:00057648.8RAB7A, VPS16, VPS18, VPS33B
7late endosomeGO:00057708.6RAB7A, VIPAS39, VPS16, VPS18, VPS33B
8early endosomeGO:00057698.4NF2, VIPAS39, VPS16, VPS18
9lysosomal membraneGO:00057658.2NSF, RAB7A, VPS16, VPS18, VPS33B

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule organizationGO:007088910.6NBEAL2, VPS33B
2megakaryocyte developmentGO:003585510.5NBEAL2, VPS33B
3bile acid and bile salt transportGO:001572110.2ABCB11, ATP8B1
4endosome organizationGO:000703210.0VPS18, VPS33B
5vesicle docking involved in exocytosisGO:000690410.0VPS18, VPS33B
6autophagosome maturationGO:00973529.9VIPAS39, VPS16, VPS33B
7endoderm developmentGO:00074929.8HNF1B, ONECUT1
8regulation of SNARE complex assemblyGO:00355429.8VPS16, VPS18
9endocrine pancreas developmentGO:00310189.8HNF1B, ONECUT1
10bile acid metabolic processGO:00082069.5ABCB11, ATP8B1
11vesicle-mediated transportGO:00161929.2NSF, VPS18, VPS33B
12endosome to lysosome transportGO:00083338.5RAB7A, VIPAS39, VPS16, VPS18, VPS33B
13intracellular protein transportGO:00068868.2NSF, RAB7A, VIPAS39, VPS16, VPS18

Sources for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet