ARCS2
MCID: ART063
MIFTS: 23

Arthrogryposis, Renal Dysfunction, and Cholestasis 2 (ARCS2)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

MalaCards integrated aliases for Arthrogryposis, Renal Dysfunction, and Cholestasis 2:

Name: Arthrogryposis, Renal Dysfunction, and Cholestasis 2 58 30 13 6 41 74
Arcs2 58 76
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 2 76
Arthrogryposis Renal Dysfunction and Cholestasis 2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
arthrogryposis, renal dysfunction, and cholestasis 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

UniProtKB/Swiss-Prot : 76 Arthrogryposis, renal dysfunction and cholestasis syndrome 2: 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 2, is also known as arcs2, and has symptoms including icterus An important gene associated with Arthrogryposis, Renal Dysfunction, and Cholestasis 2 is VIPAS39 (VPS33B Interacting Protein, Apical-Basolateral Polarity Regulator, Spe-39 Homolog). Affiliated tissues include liver, testes and t cells, and related phenotypes are nephrogenic diabetes insipidus and lissencephaly

Description from OMIM: 613404

Related Diseases for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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

Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Symptoms & Phenotypes for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Human phenotypes related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2:

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

Head And Neck Face:
sloping forehead

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

Abdomen Liver:
cholestatic liver disease
bile duct abnormalities (paucity, proliferation)
giant cell hepatitis
pigmentary deposits
portal tract fibrosis

Metabolic Features:
metabolic acidosis

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 (report in 2 sibs)

Immunology:
recurrent febrile illnesses
b and t cell defects (reported in 2 sibs)

Clinical features from OMIM:

613404

UMLS symptoms related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2:


icterus

Drugs & Therapeutics for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of Food Practices by Residents in Nursing Homes Completed NCT02626078
2 Asian Registry of the BioFreedom Stent for STEMI Patients Recruiting NCT03609346

Search NIH Clinical Center for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Genetic Tests for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Genetic tests related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2:

# Genetic test Affiliating Genes
1 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 30 VIPAS39

Anatomical Context for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

MalaCards organs/tissues related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2:

42
Liver, Testes, T Cells

Publications for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Articles related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2:

# Title Authors Year
1
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. ( 20190753 )
2010

Variations for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

ClinVar genetic disease variations for Arthrogryposis, Renal Dysfunction, and Cholestasis 2:

6 (show all 16)
# 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.535C> T (p.Gln179Ter) single nucleotide variant Pathogenic rs267607173 GRCh38 Chromosome 14, 77444311: 77444311
3 VIPAS39 NM_022067.3(VIPAS39): c.749_753delCAGAA (p.Thr250Argfs) deletion Pathogenic rs794726653 GRCh37 Chromosome 14, 77907418: 77907422
4 VIPAS39 NM_022067.3(VIPAS39): c.749_753delCAGAA (p.Thr250Argfs) deletion Pathogenic rs794726653 GRCh38 Chromosome 14, 77441075: 77441079
5 VIPAS39 NM_022067.3(VIPAS39): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs200370925 GRCh37 Chromosome 14, 77908979: 77908979
6 VIPAS39 NM_022067.3(VIPAS39): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs200370925 GRCh38 Chromosome 14, 77442636: 77442636
7 VIPAS39 NM_022067.3(VIPAS39): c.871C> T (p.Gln291Ter) single nucleotide variant Pathogenic rs267607171 GRCh37 Chromosome 14, 77902228: 77902228
8 VIPAS39 NM_022067.3(VIPAS39): c.871C> T (p.Gln291Ter) single nucleotide variant Pathogenic rs267607171 GRCh38 Chromosome 14, 77435885: 77435885
9 VIPAS39 NM_022067.3(VIPAS39): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs267607172 GRCh37 Chromosome 14, 77920444: 77920444
10 VIPAS39 NM_022067.3(VIPAS39): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs267607172 GRCh38 Chromosome 14, 77454101: 77454101
11 VIPAS39 NM_001193315.1(VIPAS39): c.1455C> A (p.Ser485Arg) single nucleotide variant Uncertain significance rs145453157 GRCh37 Chromosome 14, 77894719: 77894719
12 VIPAS39 NM_001193315.1(VIPAS39): c.1455C> A (p.Ser485Arg) single nucleotide variant Uncertain significance rs145453157 GRCh38 Chromosome 14, 77428376: 77428376
13 VIPAS39 NM_022067.3(VIPAS39): c.1184G> A (p.Trp395Ter) single nucleotide variant Pathogenic rs1555364979 GRCh38 Chromosome 14, 77429763: 77429763
14 VIPAS39 NM_022067.3(VIPAS39): c.1184G> A (p.Trp395Ter) single nucleotide variant Pathogenic rs1555364979 GRCh37 Chromosome 14, 77896106: 77896106
15 VIPAS39 NM_022067.3(VIPAS39): c.677A> G (p.His226Arg) single nucleotide variant Likely pathogenic rs1555366438 GRCh38 Chromosome 14, 77442617: 77442617
16 VIPAS39 NM_022067.3(VIPAS39): c.677A> G (p.His226Arg) single nucleotide variant Likely pathogenic rs1555366438 GRCh37 Chromosome 14, 77908960: 77908960

Expression for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Search GEO for disease gene expression data for Arthrogryposis, Renal Dysfunction, and Cholestasis 2.

Pathways for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

GO Terms for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Sources for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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
Content
Loading form....