MCID: ART062
MIFTS: 25

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 46 9
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 42 20 22 61
Arc Syndrome 8 42 10
Arthrogryposis Multiplex Congenita, Renal Dysfunction, and Cholestasis 42
 
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 8
Arthrogryposis, Renal Dysfunction, and Cholestasis 8
Arthrogryposis-Renal Dysfunction-Cholestasis 8


Classifications:



External Ids:

OMIM46 208085
Disease Ontology8 DOID:0050763

Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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Disease Ontology:8 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.

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 vps33b-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)). Affiliated tissues include vps33b gene and liver.

Description from OMIM:46 208085

Related Diseases for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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Graphical network of 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 28)
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 ventricular septal defect HP:0001629
17 defect in the atrial septum HP:0001631
18 right ventricular hypertrophy HP:0001667
19 talipes calcaneovalgus HP:0001884
20 metabolic acidosis HP:0001942
21 dehydration HP:0001944
22 renal tubular acidosis HP:0001947
23 cholestatic liver disease HP:0002611
24 arthrogryposis multiplex congenita HP:0002804
25 conjugated hyperbilirubinemia HP:0002908
26 elevated hepatic transaminases HP:0002910
27 ichthyosis HP:0008064
28 giant cell hepatitis HP:0200084

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

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Drug clinical trials:

Search ClinicalTrials for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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 Syndrome20 VPS33B
2 Arthrogryposis Renal Dysfunction Cholestasis Syndrome22

Anatomical Context for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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

31
Liver

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

14
Vps33b gene

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

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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:

63
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
4VPS33BVPS33B, IVS9DS, G-A, +1single nucleotide variantPathogenic
5VPS33BNM_018668.3: c.240-577_290-156deldeletionPathogenicGRCh37Chr 15, 91557257: 91558240
6VPS33BVPS33B: 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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Compounds 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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Sources for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet