ARCS2
MCID: ART063
MIFTS: 22

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 57 29 13 6 40 73
Arcs2 57 75
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 2 75
Arthrogryposis Renal Dysfunction and Cholestasis 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
arthrogryposis, renal dysfunction, and cholestasis 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

UniProtKB/Swiss-Prot : 75 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 low-set ears and failure to thrive

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 failure to thrive 32 HP:0001508
3 global developmental delay 32 HP:0001263
4 hip dysplasia 32 HP:0001385
5 microcephaly 32 HP:0000252
6 ichthyosis 32 HP:0008064
7 nephropathy 32 HP:0000112
8 nephrogenic diabetes insipidus 32 occasional (7.5%) HP:0009806
9 cholestatic liver disease 32 HP:0002611
10 jaundice 32 HP:0000952
11 arthrogryposis multiplex congenita 32 HP:0002804
12 ventricular septal defect 32 HP:0001629
13 nephrocalcinosis 32 HP:0000121
14 metabolic acidosis 32 HP:0001942
15 sloping forehead 32 HP:0000340
16 lissencephaly 32 occasional (7.5%) HP:0001339
17 generalized hypotonia 32 HP:0001290
18 conjugated hyperbilirubinemia 32 HP:0002908
19 renal tubular acidosis 32 HP:0001947
20 talipes calcaneovalgus 32 HP:0001884
21 right ventricular hypertrophy 32 HP:0001667
22 giant cell hepatitis 32 HP:0200084
23 elevated hepatic transaminase 32 HP:0002910

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 Not yet 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 29 VIPAS39

Anatomical Context for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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

41
Liver, Testes, T Cells

Publications for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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.958C> T (p.Arg320Ter) single nucleotide variant Likely pathogenic rs747749610 GRCh38 Chromosome 14, 77435348: 77435348
12 VIPAS39 NM_001193315.1(VIPAS39): c.958C> T (p.Arg320Ter) single nucleotide variant Likely pathogenic rs747749610 GRCh37 Chromosome 14, 77901691: 77901691
13 VIPAS39 NM_022067.3(VIPAS39): c.1184G> A (p.Trp395Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 77429763: 77429763
14 VIPAS39 NM_022067.3(VIPAS39): c.1184G> A (p.Trp395Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 77896106: 77896106
15 VIPAS39 NM_022067.3(VIPAS39): c.677A> G (p.His226Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 77442617: 77442617
16 VIPAS39 NM_022067.3(VIPAS39): c.677A> G (p.His226Arg) single nucleotide variant Likely pathogenic 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

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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