Arthrogryposis, renal dysfunction, and cholestasis 1

Preferred Label : Arthrogryposis, renal dysfunction, and cholestasis 1;

Symbol : ARCS1;

CISMeF acronym : ARCS; ARCS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ARCS; Arc syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the yeast homolog, B, of the vacuolar protein sorting 33 gene (VPS33B, 608552.0001);

Laboratory abnormalities : Conjugated hyperbilirubinemia; Abnormal liver function tests;

Prefixed ID : #208085;

Details

Origin ID

208085;

UMLS CUI

C1859722;

Automatic exact mappings (from CISMeF team)
- AIDS-Related complex [MeSH concept]
- ARC [MedDRA LLT]
- Acquired immunodeficiency syndrome-like syndrome (disorder) [Inactive SNOMED CT concept]
- Arcuate (qualifier value) [SNOMED CT concept]
- Radiation Arc [NCIt concept]
- aids-related complex [MeSH Descriptor]
- arthrogryposis, renal dysfunction, and cholestasis 1 [DO Concept]
CISMeF manual mappings
- Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- ARC syndrome [DO Concept]
- Arthrogryposis - renal dysfunction - cholestasis [ICD-11 More detail]
- Arthrogryposis renal dysfunction cholestasis syndrome [MeSH concept]
- Arthrogryposis-renal dysfunction-cholestasis syndrome [ORDO Disease]
- arthrogryposis renal dysfunction cholestasis syndrome [MeSH Supplementary Concept]
DO Cross reference
- arthrogryposis, renal dysfunction, and cholestasis 1 [DO Concept]
False automatic mappings
- Atypical Reparative Cell [NCIt concept]
Genes related to phenotype
- Vps33b late endosome and lysosome associated [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormal liver function tests [HPO term]
- Abnormality of renal physiology [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholestatic liver disease [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Death in infancy [HPO term]
- Dehydration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Giant cell hepatitis [HPO term]
- Global developmental delay [HPO term]
- Hip dysplasia [HPO term]
- Hypotonia [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Jaundice [HPO term]
- Lissencephaly [HPO term]
- Low-set ears [HPO term]
- Metabolic acidosis [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Nephrocalcinosis [HPO term]
- Nephrogenic diabetes insipidus [HPO term]
- Nephropathy [HPO term]
- Renal tubular acidosis [HPO term]
- Right ventricular hypertrophy [HPO term]
- Sloping forehead [HPO term]
- Talipes calcaneovalgus [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Arthrogryposis-renal dysfunction-cholestasis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ARC syndrome [DO Concept]
- Arthrogryposis renal dysfunction cholestasis syndrome [MeSH concept]
- Arthrogryposis-renal dysfunction-cholestasis syndrome [ORDO Disease]
- arthrogryposis renal dysfunction cholestasis syndrome [MeSH Supplementary Concept]

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