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 ¹¹ ²⁸ ¹² ⁵ ¹⁴ ³⁸ ⁷¹

Arcs2 ⁵⁷ ¹¹ ⁷³

Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 2 ⁷³

Arthrogryposis Renal Dysfunction and Cholestasis 2 ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

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

See all MalaCards categories (disease lists)

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Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

OMIM®: ⁵⁷ Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085). (613404) (Updated 08-Dec-2022)

MalaCards based summary: Arthrogryposis, Renal Dysfunction, and Cholestasis 2, also known as arcs2, is related to arthrogryposis, renal dysfunction, and cholestasis 1 and cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 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 NAD metabolism. Affiliated tissues include liver and kidney, and related phenotypes are nephrogenic diabetes insipidus and lissencephaly

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ An arthrogryposis, renal dysfunction, and cholestasis that has material basis in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3.

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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	arthrogryposis, renal dysfunction, and cholestasis 1	29.5	VPS33B VIPAS39 USP25 TNKS2 TNKS BABAM1
2	cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	10.0	VPS33B VIPAS39
3	obstructive jaundice	9.9	VPS33B VIPAS39
4	gray platelet syndrome	9.9	VPS33B VIPAS39
5	cholestasis, progressive familial intrahepatic, 1	9.9	VPS33B VIPAS39
6	progressive familial intrahepatic cholestasis	9.8	VPS33B VIPAS39
7	fanconi syndrome	9.7	VPS33B VIPAS39
8	cherubism	9.4	TNKS2 TNKS BABAM1

Graphical network of the top 20 diseases related to Arthrogryposis, Renal Dysfunction, and Cholestasis 2:

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

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

³⁰ (show all 28)

#	Description	HPO Frequency	HPO Source Accession
1	nephrogenic diabetes insipidus ³⁰	Occasional (7.5%)	HP:0009806
2	lissencephaly ³⁰	Occasional (7.5%)	HP:0001339
3	hepatomegaly ³⁰	Very rare (1%)	HP:0002240
4	proteinuria ³⁰	Very rare (1%)	HP:0000093
5	aminoaciduria ³⁰	Very rare (1%)	HP:0003355
6	cholestatic liver disease ³⁰	Very rare (1%)	HP:0002611
7	arthrogryposis multiplex congenita ³⁰	Very rare (1%)	HP:0002804
8	pruritus ³⁰	Very rare (1%)	HP:0000989
9	metabolic acidosis ³⁰	Very rare (1%)	HP:0001942
10	glycosuria ³⁰	Very rare (1%)	HP:0003076
11	failure to thrive ³⁰		HP:0001508
12	global developmental delay ³⁰		HP:0001263
13	hip dysplasia ³⁰		HP:0001385
14	microcephaly ³⁰		HP:0000252
15	ichthyosis ³⁰		HP:0008064
16	nephropathy ³⁰		HP:0000112
17	low-set ears ³⁰		HP:0000369
18	elevated hepatic transaminase ³⁰		HP:0002910
19	jaundice ³⁰		HP:0000952
20	nephrocalcinosis ³⁰		HP:0000121
21	ventricular septal defect ³⁰		HP:0001629
22	sloping forehead ³⁰		HP:0000340
23	generalized hypotonia ³⁰		HP:0001290
24	conjugated hyperbilirubinemia ³⁰		HP:0002908
25	renal tubular acidosis ³⁰		HP:0001947
26	talipes calcaneovalgus ³⁰		HP:0001884
27	right ventricular hypertrophy ³⁰		HP:0001667
28	giant cell hepatitis ³⁰		HP:0200084

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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:
hypotonia
global developmental delay
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 08-Dec-2022)

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 ²⁸	VIPAS39

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Anatomical Context for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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

MalaCards : Liver, Kidney

ODiseA: 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	Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome. ⁵⁷ ⁵	Qiu YL...Wang JS	31479177	2019
2	Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. ⁵⁷ ⁵	Cullinane AR...Gissen P	20190753	2010
3	Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series. ⁶²	Satomura Y...Ozono K	35151346	2022

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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	1040.81	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)	20190753 31479177
2	VPS33B	VPS33B Late Endosome And Lysosome Associated	Protein Coding	6.61	DISEASES inferred ¹⁴
3	TNKS2	Tankyrase 2	Protein Coding	6.2	DISEASES inferred ¹⁴
4	BABAM1	BRISC And BRCA1 A Complex Member 1	Protein Coding	5.82	DISEASES inferred ¹⁴
5	TNKS	Tankyrase	Protein Coding	5.64	DISEASES inferred ¹⁴
6	USP25	Ubiquitin Specific Peptidase 25	Protein Coding	5.61	DISEASES inferred ¹⁴

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Variations for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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

⁵ (show all 15)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	VIPAS39	NM_001193315.2(VIPAS39):c.535C>T (p.Gln179Ter)	SNV	Pathogenic	111	rs267607173	GRCh37: 14:77910654-77910654 GRCh38: 14:77444311-77444311
2	VIPAS39	NM_001193315.2(VIPAS39):c.749_753del (p.Thr250fs)	DEL	Pathogenic	112	rs794726653	GRCh37: 14:77907418-77907422 GRCh38: 14:77441075-77441079
3	VIPAS39	NM_001193315.2(VIPAS39):c.658C>T (p.Arg220Ter)	SNV	Pathogenic	113	rs200370925	GRCh37: 14:77908979-77908979 GRCh38: 14:77442636-77442636
4	VIPAS39	NM_001193315.2(VIPAS39):c.871C>T (p.Gln291Ter)	SNV	Pathogenic	114	rs267607171	GRCh37: 14:77902228-77902228 GRCh38: 14:77435885-77435885
5	VIPAS39	NM_001193315.2(VIPAS39):c.2T>G (p.Met1Arg)	SNV	Pathogenic	115	rs267607172	GRCh37: 14:77920444-77920444 GRCh38: 14:77454101-77454101
6	VIPAS39	NM_001193315.2(VIPAS39):c.177_179delinsAAA (p.Trp59_Ser60delinsTer)	INDEL	Pathogenic	1701817		GRCh37: 14:77919659-77919661 GRCh38: 14:77453316-77453318
7	VIPAS39	NM_001193315.2(VIPAS39):c.1141C>T (p.Arg381Ter)	SNV	Pathogenic	1701818		GRCh37: 14:77900223-77900223 GRCh38: 14:77433880-77433880
8	VIPAS39	NM_001193315.2(VIPAS39):c.1184G>A (p.Trp395Ter)	SNV	Pathogenic	522399	rs1555364979	GRCh37: 14:77896106-77896106 GRCh38: 14:77429763-77429763
9	VIPAS39	NM_001193315.2(VIPAS39):c.677A>G (p.His226Arg)	SNV	Likely Pathogenic	522398	rs1555366438	GRCh37: 14:77908960-77908960 GRCh38: 14:77442617-77442617
10	VIPAS39	NM_001193315.2(VIPAS39):c.618_626dup (p.Arg206_Leu208dup)	DUP	Likely Pathogenic	627536	rs1594910243	GRCh37: 14:77909466-77909467 GRCh38: 14:77443123-77443124
11	VIPAS39	NM_001193315.2(VIPAS39):c.1003A>G (p.Thr335Ala)	SNV	Uncertain Significance	1028746	rs867268041	GRCh37: 14:77901646-77901646 GRCh38: 14:77435303-77435303
12	VIPAS39	NM_001193315.2(VIPAS39):c.1366G>A (p.Asp456Asn)	SNV	Uncertain Significance	1028747	rs2078466084	GRCh37: 14:77894808-77894808 GRCh38: 14:77428465-77428465
13	VIPAS39	NM_001193315.2(VIPAS39):c.494G>A (p.Arg165Gln)	SNV	Uncertain Significance	285001	rs376797384	GRCh37: 14:77914847-77914847 GRCh38: 14:77448504-77448504
14	VIPAS39	NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg)	SNV	Uncertain Significance	498683	rs145453157	GRCh37: 14:77894719-77894719 GRCh38: 14:77428376-77428376
15	VIPAS39	NM_001193315.2(VIPAS39):c.632-14T>C	SNV	Likely Benign	1301768		GRCh37: 14:77909019-77909019 GRCh38: 14:77442676-77442676

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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 ⁶⁶ Show member pathways Ub-specific processing proteases ⁶⁶	11.64	USP25 TNKS2 TNKS BABAM1
2	NAD metabolism ²² Show member pathways NAD phosphorylation and transhydrogenation ⁶¹ NAD salvage ⁶¹ NAD salvage pathway IV (from nicotinamide riboside) ⁶¹ NAD+ biosynthetic pathways ⁷⁴ NAD+ metabolism ⁷⁴	11.16	TNKS2 TNKS
3	Telomere Extension by Telomerase ⁶⁴ Show member pathways XAV939 stabilizes AXIN ⁶⁶	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	9.46	TNKS2 TNKS
2	HOPS complex	GO:0030897	9.13	VPS33B VIPAS39
3	vesicle tethering complex	GO:0099023	8.92	VPS33B VIPAS39

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	collagen fibril organization	GO:0030199	9.85	VPS33B VIPAS39
2	intracellular transport	GO:0046907	9.83	VPS33B VIPAS39
3	positive regulation of telomere maintenance via telomerase	GO:0032212	9.8	TNKS2 TNKS
4	protein K63-linked deubiquitination	GO:0070536	9.78	USP25 BABAM1
5	positive regulation of telomere capping	GO:1904355	9.76	TNKS2 TNKS
6	phagosome-lysosome fusion	GO:0090385	9.73	VIPAS39 VPS33B
7	endosome to lysosome transport	GO:0008333	9.71	VPS33B VIPAS39
8	collagen metabolic process	GO:0032963	9.71	VPS33B VIPAS39
9	protein auto-ADP-ribosylation	GO:0070213	9.67	TNKS2 TNKS
10	protein localization to chromosome, telomeric region	GO:0070198	9.62	TNKS2 TNKS
11	negative regulation of telomere maintenance via telomere lengthening	GO:1904357	9.56	TNKS2 TNKS
12	autophagosome maturation	GO:0097352	9.51	VPS33B VIPAS39
13	protein poly-ADP-ribosylation	GO:0070212	9.46	TNKS2 TNKS
14	peptidyl-lysine hydroxylation	GO:0017185	9.26	VPS33B VIPAS39
15	obsolete protein ADP-ribosylation	GO:0006471	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	nucleotidyltransferase activity	GO:0016779	9.46	TNKS2 TNKS
2	NAD+ ADP-ribosyltransferase activity	GO:0003950	9.26	TNKS2 TNKS
3	NAD+-protein ADP-ribosyltransferase activity	GO:1990404	8.92	TNKS2 TNKS

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Sources for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

ARCS2 MCID: ART063 MIFTS: 37	Arthrogryposis, Renal Dysfunction, and Cholestasis 2 (ARCS2) Categories: Blood diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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:

Inheritance:

OMIM®:

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:

Graphical network of the top 20 diseases related to 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:

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

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