ARCS1
MCID: ART062
MIFTS: 62

Arthrogryposis, Renal Dysfunction, and Cholestasis 1 (ARCS1)

Categories: Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

MalaCards integrated aliases for Arthrogryposis, Renal Dysfunction, and Cholestasis 1:

Name: Arthrogryposis, Renal Dysfunction, and Cholestasis 1 56 12 13 6
Arc Syndrome 56 12 74 52 58 73 15
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 74 52 29 71
Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome 74 52 58
Arcs1 56 12 73
Arthrogryposis, Renal Dysfunction, and Cholestasis 12 36
Renal Insufficiency 43 71
Arcs 56 73
Arthrogryposis Multiplex Congenita, Renal Dysfunction, and Cholestasis 52
Arthrogryposis with Renal Dysfunction and Cholestasis Syndrome 6
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 12
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 1 73
Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1 39
Arthrogryposis Renal Dysfunction and Cholestasis 1 73
Arthrogryposis - Renal Dysfunction - Cholestasis 52
Arthrogryposis-Renal Dysfunction-Cholestasis 12
Arc Syndrome; Arcs 56
Kidney Failure 71

Characteristics:

Orphanet epidemiological data:

58
arthrogryposis-renal dysfunction-cholestasis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
arthrogryposis, renal dysfunction, and cholestasis 1:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050763 DOID:0111353
OMIM 56 208085
OMIM Phenotypic Series 56 PS208085
KEGG 36 H00950
MESH via Orphanet 44 C535382
ICD10 via Orphanet 33 Q89.7
UMLS via Orphanet 72 C1859722
Orphanet 58 ORPHA2697
MedGen 41 C1859722
UMLS 71 C0035078 C1565489 C1859722

Summaries for Arthrogryposis, Renal Dysfunction, and Cholestasis 1

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2697 Definition A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. Epidemiology The prevalence is unknown but less than 100 patients have been reported in the literature so far. Clinical description The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Renal tubular dysfunction ranges from isolated renal tubular acidosis to complete Fanconi syndrome (polyuria, aminoaciduria, glycosuria, phosphaturia and bicarbonate wasting). Hepatic anomalies include variable combinations of cholestasis, intrahepatic biliary duct hypoplasia and lipofuscin deposition. Additional features include severe failure to thrive, platelet dysfunction (which may be responsible for severe bleeding), facial dysmorphism (low set ears, lax skin, a high arched palate, beaked nose and small anterior fontanelle), diarrhea, recurrent febrile illness, cerebral malformations and sensorineural deafness. Etiology Mutations in the VPS33B gene (15q26.1), involved in intracellular protein trafficking and membrane fusion, have been found in 75% of ARC families, as well as mutations in the VIPAR gene (C14ORF133), encoding a protein that complexes with VPS33B. Differential diagnosis The differential diagnosis should include progressive familial intrahepatic cholestasis disorders, other forms of arthrogryposis multiplex congenita and congenital ichthyosiform dermatoses (see these terms). Genetic counseling The syndrome is generally considered to be transmitted as an autosomal recessive trait . Management and treatment There is no specific treatment for the disease. Prognosis Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay . Visit the Orphanet disease page for more resources.

MalaCards based summary : Arthrogryposis, Renal Dysfunction, and Cholestasis 1, also known as arc syndrome, is related to cholestasis and atp8b1 deficiency, and has symptoms including icterus An important gene associated with Arthrogryposis, Renal Dysfunction, and Cholestasis 1 is VPS33B (VPS33B Late Endosome And Lysosome Associated). The drugs Lactulose and Fosinopril have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and liver, and related phenotypes are nephrogenic diabetes insipidus and abnormal bleeding

Disease Ontology : 12 A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has material basis in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.

KEGG : 36 Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a fatal multisystem disorder that causes neonatal intrahepatic cholestasis. It also exhibits notable clinical variability showing anemia, ichthyosis, and diarrhoea. Mutations in VPS33B have been found in 75% cases of ARC syndrome. Individuals without VPS33B defects have mutations in VIPAR that forms a functional complex with VPS33B.

UniProtKB/Swiss-Prot : 73 Arthrogryposis, renal dysfunction and cholestasis syndrome 1: 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.

Wikipedia : 74 Arthrogryposis-renal dysfunction-cholestasis syndrome is a cutaneous condition caused by a mutation in... more...

More information from OMIM: 208085 PS208085

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