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Arthrogryposis - renal dysfunction - cholestasis
2 OMIM references -
2 associated genes
14 connected diseases
42 signs/symptoms
Disease Type of connection
Estrogen resistance syndrome
Pseudohypoaldosteronism type 2E
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Giant cell glioblastoma
Gliosarcoma
22q11.2 deletion syndrome
Autosomal recessive distal renal tubular acidosis with deafness
Young adult-onset Parkinsonism
Synonym(s):
- ARC syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: C535382
Gene symbol UniProt reference OMIM reference
VIPAS39 Q9H9C1613401
VPS33B Q9H267608552
Very frequent
- Arthrogryposis
- Autosomal recessive inheritance
- Death in infancy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Platelets function anomaly
- Renal tubular defect / tubulopathy
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Diabetes insipidus
- Fever / chilling
- Functional anomalies of the liver and the biliary tract
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotonia
- Ichthyosis / ichthyosiform dermatitis
- Malabsorption / chronic diarrhea / steatorrhea
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Mutiple fractures / bone fragility
- Oligoamnios
- Pes talus
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Structural anomalies of the liver and the biliary tract
- Talipes-valgus
- Talipes-varus / metatarsal varus

Occasional
- Anaemia
- Beaked nose
- Cardiac septal defect
- Cirrhosis
- Corpus callosum / septum pellucidum total / partial agenesis
- Depressed nasal bridge
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypothyroidy
- Kyphosis
- Loose skin / skin relaxation / excess skin / creases
- Pectus carinatum
- Sensorineural deafness / hearing loss
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Urinary / renal lithiasis / kidney stones / nephritic colic