Arthrogryposis, Renal Dysfunction, and Cholestasis 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 ¹² ²⁹ ¹³ ⁶ ¹⁵ ³⁹ ⁷⁰

Arcs2 ⁵⁷ ¹² ⁷²

Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 2 ⁷²

Arthrogryposis Renal Dysfunction and Cholestasis 2 ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

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

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Liver diseases Nephrological diseases Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111354

OMIM® ⁵⁷ 613404

OMIM Phenotypic Series ⁵⁷ PS208085

MeSH ⁴⁴ D001176 D002779 D051437

MedGen ⁴¹ C3150672

UMLS ⁷⁰ C3150672

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Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

UniProtKB/Swiss-Prot : ⁷² 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, also known as arcs2, is related to cherubism and arthrogryposis, renal dysfunction, and cholestasis 1, 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), and among its related pathways/superpathways are Deubiquitination and Telomere Extension by Telomerase. Affiliated tissues include liver, and related phenotypes are nephrogenic diabetes insipidus and lissencephaly

Disease Ontology : ¹² An arthrogryposis, renal dysfunction, and cholestasis that has material basis in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3.

More information from OMIM: 613404 PS208085

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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

Diseases related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	cherubism	9.1	TNKS2 TNKS SH3BP2 BABAM1
2	arthrogryposis, renal dysfunction, and cholestasis 1	8.3	VIPAS39 USP25 TNKS2 TNKS SH3BP2 LNPEP

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

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

³¹ (show all 22)

#	Description	HPO Frequency	HPO Source Accession
1	nephrogenic diabetes insipidus ³¹	occasional (7.5%)	HP:0009806
2	lissencephaly ³¹	occasional (7.5%)	HP:0001339
3	failure to thrive ³¹		HP:0001508
4	global developmental delay ³¹		HP:0001263
5	hip dysplasia ³¹		HP:0001385
6	microcephaly ³¹		HP:0000252
7	ichthyosis ³¹		HP:0008064
8	nephropathy ³¹		HP:0000112
9	low-set ears ³¹		HP:0000369
10	elevated hepatic transaminase ³¹		HP:0002910
11	cholestatic liver disease ³¹		HP:0002611
12	jaundice ³¹		HP:0000952
13	nephrocalcinosis ³¹		HP:0000121
14	ventricular septal defect ³¹		HP:0001629
15	arthrogryposis multiplex congenita ³¹		HP:0002804
16	sloping forehead ³¹		HP:0000340
17	generalized hypotonia ³¹		HP:0001290
18	conjugated hyperbilirubinemia ³¹		HP:0002908
19	renal tubular acidosis ³¹		HP:0001947
20	talipes calcaneovalgus ³¹		HP:0001884
21	right ventricular hypertrophy ³¹		HP:0001667
22	giant cell hepatitis ³¹		HP:0200084

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Growth Other:
failure to thrive

Skeletal Pelvis:
hip dysplasia

Skin Nails Hair Skin:
ichthyosis
jaundice

Head And Neck Ears:
low-set ears

Skeletal:
arthrogryposis multiplex congenita
fractures at birth

Metabolic Features:
metabolic acidosis

Skeletal Feet:
talipes calcaneovalgus

Hematology:
severe bleeding after biopsies (uncommon)

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

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

Head And Neck Face:
sloping forehead

Laboratory Abnormalities:
conjugated hyperbilirubinemia
abnormal liver function tests

Cardiovascular Heart:
ventricular septal defects
atrial 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 (Updated 20-May-2021)

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

icterus

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

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

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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

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Anatomical Context for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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

⁴⁰

Liver

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Publications for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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

#	Title	Authors	PMID	Year
1	Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. ⁶ ⁵⁷	Cullinane AR...Gissen P	20190753	2010

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Genes for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Genes related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	VIPAS39	VPS33B Interacting Protein, Apical-Basolateral Polarity Regulator, Spe-39 Homolog	Protein Coding	1044.01	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Summaries Variants (show sections)	20190753
2	TNKS2	Tankyrase 2	Protein Coding	6.5	DISEASES inferred ¹⁵
3	BABAM1	BRISC And BRCA1 A Complex Member 1	Protein Coding	6.05	DISEASES inferred ¹⁵
4	USP25	Ubiquitin Specific Peptidase 25	Protein Coding	6.02	DISEASES inferred ¹⁵
5	TNKS	Tankyrase	Protein Coding	5.99	DISEASES inferred ¹⁵
6	LNPEP	Leucyl And Cystinyl Aminopeptidase	Protein Coding	5.79	DISEASES inferred ¹⁵
7	SH3BP2	SH3 Domain Binding Protein 2	Protein Coding	5.7	DISEASES inferred ¹⁵

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Variations for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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

⁶ (show all 13)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	VIPAS39	NM_022067.4(VIPAS39):c.535C>T (p.Gln179Ter)	SNV	Pathogenic	111	rs267607173	GRCh37: 14:77910654-77910654 GRCh38: 14:77444311-77444311
2	VIPAS39	NM_022067.4(VIPAS39):c.749_753del (p.Thr250fs)	Deletion	Pathogenic	112	rs794726653	GRCh37: 14:77907418-77907422 GRCh38: 14:77441075-77441079
3	VIPAS39	NM_022067.4(VIPAS39):c.658C>T (p.Arg220Ter)	SNV	Pathogenic	113	rs200370925	GRCh37: 14:77908979-77908979 GRCh38: 14:77442636-77442636
4	VIPAS39	NM_022067.4(VIPAS39):c.871C>T (p.Gln291Ter)	SNV	Pathogenic	114	rs267607171	GRCh37: 14:77902228-77902228 GRCh38: 14:77435885-77435885
5	VIPAS39	NM_022067.4(VIPAS39):c.2T>G (p.Met1Arg)	SNV	Pathogenic	115	rs267607172	GRCh37: 14:77920444-77920444 GRCh38: 14:77454101-77454101
6	VIPAS39	NM_022067.4(VIPAS39):c.1184G>A (p.Trp395Ter)	SNV	Pathogenic	522399	rs1555364979	GRCh37: 14:77896106-77896106 GRCh38: 14:77429763-77429763
7	VIPAS39	NM_001193315.2(VIPAS39):c.643C>T (p.Arg215Ter)	SNV	Pathogenic	1033995		GRCh37: 14:77908994-77908994 GRCh38: 14:77442651-77442651
8	VIPAS39	NM_022067.4(VIPAS39):c.677A>G (p.His226Arg)	SNV	Likely pathogenic	522398	rs1555366438	GRCh37: 14:77908960-77908960 GRCh38: 14:77442617-77442617
9	VIPAS39	NM_022067.4(VIPAS39):c.618_626dup (p.Arg206_Leu208dup)	Duplication	Likely pathogenic	627536	rs1594910243	GRCh37: 14:77909466-77909467 GRCh38: 14:77443123-77443124
10	VIPAS39	NM_001193315.2(VIPAS39):c.1003A>G (p.Thr335Ala)	SNV	Uncertain significance	1028746		GRCh37: 14:77901646-77901646 GRCh38: 14:77435303-77435303
11	VIPAS39	NM_001193315.2(VIPAS39):c.1366G>A (p.Asp456Asn)	SNV	Uncertain significance	1028747		GRCh37: 14:77894808-77894808 GRCh38: 14:77428465-77428465
12	VIPAS39	NM_022067.4(VIPAS39):c.494G>A (p.Arg165Gln)	SNV	Uncertain significance	285001	rs376797384	GRCh37: 14:77914847-77914847 GRCh38: 14:77448504-77448504
13	VIPAS39	NM_022067.4(VIPAS39):c.1455C>A (p.Ser485Arg)	SNV	Uncertain significance	498683	rs145453157	GRCh37: 14:77894719-77894719 GRCh38: 14:77428376-77428376

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Expression for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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

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Pathways for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Pathways related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Deubiquitination ⁶⁵ Show member pathways Ub-specific processing proteases ⁶⁵	11.64	USP25 TNKS2 TNKS BABAM1
2	Telomere Extension by Telomerase ⁶³ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁵	10.28	TNKS2 TNKS

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GO Terms for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Cellular components related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	pericentriolar material	GO:0000242	8.62	TNKS2 TNKS

Biological processes related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein polyubiquitination	GO:0000209	9.63	TNKS2 TNKS LNPEP
2	positive regulation of canonical Wnt signaling pathway	GO:0090263	9.48	TNKS2 TNKS
3	positive regulation of telomere maintenance via telomerase	GO:0032212	9.43	TNKS2 TNKS
4	protein K63-linked deubiquitination	GO:0070536	9.4	USP25 BABAM1
5	protein ADP-ribosylation	GO:0006471	9.37	TNKS2 TNKS
6	positive regulation of telomere capping	GO:1904355	9.32	TNKS2 TNKS
7	negative regulation of telomere maintenance via telomere lengthening	GO:1904357	9.26	TNKS2 TNKS
8	protein auto-ADP-ribosylation	GO:0070213	9.16	TNKS2 TNKS
9	protein localization to chromosome, telomeric region	GO:0070198	8.96	TNKS2 TNKS
10	protein poly-ADP-ribosylation	GO:0070212	8.62	TNKS2 TNKS

Molecular functions related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	NAD+ ADP-ribosyltransferase activity	GO:0003950	8.96	TNKS2 TNKS
2	protein ADP-ribosylase activity	GO:1990404	8.62	TNKS2 TNKS

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Sources for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Arthrogryposis, Renal Dysfunction, and Cholestasis 2 (ARCS2)

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

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Related Diseases for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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

Diseases related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Drugs & Therapeutics 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:

Anatomical Context for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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

Publications for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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

Genes for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Genes related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 (1 elite genes):

Variations for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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

Expression for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Pathways for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Pathways related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 according to GeneCards Suite gene sharing:

GO Terms for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

Cellular components related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 according to GeneCards Suite gene sharing:

Biological processes related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 according to GeneCards Suite gene sharing:

Molecular functions related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2 according to GeneCards Suite gene sharing:

Sources for Arthrogryposis, Renal Dysfunction, and Cholestasis 2