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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613404

MedGen ⁴² C3150672

MeSH ⁴⁴ D001176 D002779 D051437

UMLS ⁷³ C3150672

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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

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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

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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	elevated hepatic transaminases ³²		HP:0002910
10	cholestatic liver disease ³²		HP:0002611
11	jaundice ³²		HP:0000952
12	arthrogryposis multiplex congenita ³²		HP:0002804
13	ventricular septal defect ³²		HP:0001629
14	nephrocalcinosis ³²		HP:0000121
15	metabolic acidosis ³²		HP:0001942
16	sloping forehead ³²		HP:0000340
17	lissencephaly ³²	occasional (7.5%)	HP:0001339
18	generalized hypotonia ³²		HP:0001290
19	conjugated hyperbilirubinemia ³²		HP:0002908
20	renal tubular acidosis ³²		HP:0001947
21	talipes calcaneovalgus ³²		HP:0001884
22	right ventricular hypertrophy ³²		HP:0001667
23	giant cell hepatitis ³²		HP:0200084

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

icterus

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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

Search 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:

⁴¹

Liver, Testes, T Cells

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Publications for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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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	PubmedIds
1	VIPAS39	VPS33B Interacting Protein, Apical-Basolateral Polarity Regulator, Spe-39 Homolog	Protein Coding	1029.12	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Summaries Variants (show sections)	20190753

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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 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	GRCh37	Chromosome 14, 77901691: 77901691
12	VIPAS39	NM_001193315.1(VIPAS39): c.958C> T (p.Arg320Ter)	single nucleotide variant	Likely pathogenic	rs747749610	GRCh38	Chromosome 14, 77435348: 77435348
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		GRCh37	Chromosome 14, 77908960: 77908960
16	VIPAS39	NM_022067.3(VIPAS39): c.677A> G (p.His226Arg)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 14, 77442617: 77442617

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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

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GO Terms for Arthrogryposis, Renal Dysfunction, and Cholestasis 2

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