ARCS2
MCID: VPS001
MIFTS: 8

Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome (ARCS2) malady

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Vipas39-Related Arthrogryposis, Renal Dysfunction, and...

Aliases & Descriptions for Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome:

Name: Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 24
Arthrogryposis, Renal Dysfunction, and Cholestasis 2 24 69
Arcs2 24

Classifications:



Summaries for Vipas39-Related Arthrogryposis, Renal Dysfunction, and...

MalaCards based summary : Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome, also known as arthrogryposis, renal dysfunction, and cholestasis 2, is related to arthrogryposis, renal dysfunction, and cholestasis 2, and has symptoms including icterus An important gene associated with Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome is VIPAS39 (VPS33B Interacting Protein, Apical-Basolateral Polarity Regulator, Spe-39 Homolog).

Related Diseases for Vipas39-Related Arthrogryposis, Renal Dysfunction, and...

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 Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 arthrogryposis, renal dysfunction, and cholestasis 2 12.4

Symptoms & Phenotypes for Vipas39-Related Arthrogryposis, Renal Dysfunction, and...

UMLS symptoms related to Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome:


icterus

Drugs & Therapeutics for Vipas39-Related Arthrogryposis, Renal Dysfunction, and...

Search Clinical Trials , NIH Clinical Center for Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome

Genetic Tests for Vipas39-Related Arthrogryposis, Renal Dysfunction, and...

Genetic tests related to Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome:

id Genetic test Affiliating Genes
1 Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 24 VIPAS39

Anatomical Context for Vipas39-Related Arthrogryposis, Renal Dysfunction, and...

Publications for Vipas39-Related Arthrogryposis, Renal Dysfunction, and...

Variations for Vipas39-Related Arthrogryposis, Renal Dysfunction, and...

ClinVar genetic disease variations for Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 VIPAS39 NM_022067.3(VIPAS39): c.535C> T (p.Gln179Ter) single nucleotide variant Pathogenic rs267607173 GRCh37 Chromosome 14, 77910654: 77910654
2 VIPAS39 NM_022067.3(VIPAS39): c.749_753delCAGAA (p.Thr250Argfs) deletion Pathogenic rs794726653 GRCh37 Chromosome 14, 77907418: 77907422
3 VIPAS39 NM_022067.3(VIPAS39): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs200370925 GRCh37 Chromosome 14, 77908979: 77908979
4 VIPAS39 NM_022067.3(VIPAS39): c.871C> T (p.Gln291Ter) single nucleotide variant Pathogenic rs267607171 GRCh37 Chromosome 14, 77902228: 77902228
5 VIPAS39 NM_022067.3(VIPAS39): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs267607172 GRCh37 Chromosome 14, 77920444: 77920444

Expression for Vipas39-Related Arthrogryposis, Renal Dysfunction, and...

Search GEO for disease gene expression data for Vipas39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome.

Pathways for Vipas39-Related Arthrogryposis, Renal Dysfunction, and...

GO Terms for Vipas39-Related Arthrogryposis, Renal Dysfunction, and...

Sources for Vipas39-Related Arthrogryposis, Renal Dysfunction, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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