MCID: ART062
MIFTS: 35

Arthrogryposis, Renal Dysfunction, and Cholestasis 1 malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

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
Arc Syndrome 10 45 12 67
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 45 65
Arthrogryposis Renal Dysfunction and Cholestasis 22 24
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 Syndrome 22
 
Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome 45
Arthrogryposis, Renal Dysfunction, and Cholestasis 10
Arthrogryposis Renal Dysfunction and Cholestasis 1 67
Arthrogryposis - Renal Dysfunction - Cholestasis 45
Arthrogryposis-Renal Dysfunction-Cholestasis 10
Arcs1 67
Arcs 67

Characteristics:

HPO:

61
arthrogryposis, renal dysfunction, and cholestasis 1:
Mortality/Aging: death in infancy
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 208085
Disease Ontology10 DOID:0050763
MedGen34 C1859722
UMLS65 C1859722

Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

MalaCards based summary: Arthrogryposis, Renal Dysfunction, and Cholestasis 1, also known as arc syndrome, is related to arthrogryposis, renal dysfunction, and cholestasis 2 and vipas39-related arthrogryposis, renal dysfunction, and cholestasis syndrome, and has symptoms including nephrogenic diabetes insipidus, abnormal bleeding and lissencephaly. An important gene associated with Arthrogryposis, Renal Dysfunction, and Cholestasis 1 is VPS33B (VPS33B, Late Endosome And Lysosome Associated). Affiliated tissues include vps33b gene or and liver.

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.

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 all 35)
idRelated DiseaseScoreTop Affiliating Genes
1arthrogryposis, renal dysfunction, and cholestasis 213.0
2vipas39-related arthrogryposis, renal dysfunction, and cholestasis syndrome12.8
3vps33b-related arthrogryposis, renal dysfunction, and cholestasis syndrome11.7
4rheumatoid arthritis10.3
5neural tube defects10.3
6cervical squamous cell carcinoma10.3
7osteoarthritis10.3
8breast cancer10.2
9cervicitis10.2
10radiculopathy10.2
11porphyria cutanea tarda10.0
12hutchinson-gilford progeria10.0
13multiple myeloma10.0
14hepatitis10.0
15liver disease10.0
16vitamin b12 deficiency10.0
17sleep apnea10.0
18myeloma10.0
19sarcoma10.0
20dementia10.0
21porphyria10.0
22dumping syndrome10.0
23hyperuricemia10.0
24ovarian cancer10.0
25progeria10.0
26gastritis10.0
27granulomatous gastritis10.0
28neuronitis10.0
29fatty liver disease10.0
30macrophage activation syndrome10.0
31muscle eye brain disease10.0
32endotheliitis10.0
33bartholin's gland transitional cell carcinoma10.0RAB7A, VPS33B
34alveolar periostitis9.8VIPAS39, VPS33B
35congenital heart defects, multiple types, 48.4NBEAL2, RAB7A, TGFBRAP1, VIPAS39, VPS33B, VPS39

Graphical network of the top 20 diseases related to Arthrogryposis, Renal Dysfunction, and Cholestasis 1:



Diseases related to arthrogryposis, renal dysfunction, and cholestasis 1

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

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):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Artemisinins202
2
Artesunate17488495-63-06917864, 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
3Artemisinine202
4Antiprotozoal Agents1730
5Antimalarials1058
6Antiparasitic Agents1854
7Anti-Infective Agents17220

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

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 or

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

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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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
1lysosomal membraneGO:00057659.5VPS33B, VPS39
2lysosomeGO:00057649.5RAB7A, VPS33B
3HOPS complexGO:00308979.3VIPAS39, VPS33B, VPS39

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

idNameGO IDScoreTop Affiliating Genes
1vesicle-mediated transportGO:00161929.3TGFBRAP1, VPS39
2intracellular protein transportGO:00068868.6TGFBRAP1, VIPAS39, VPS39

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