Arthrogryposis, renal dysfunction, and cholestasis 2
- Synonyms
- VIPAS39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
Summary
Available tests
Clinical features
Help- Abnormality of head or neck
- Sloping forehead
Sloping forehead
- MedGen UID: 346640
- Concept ID: C1857679
- Finding: Finding
Abnormality of head or neck
- Sloping forehead
- Abnormality of limbs
- Talipes calcaneovalgus
Talipes calcaneovalgus
- MedGen UID: 56270
- Concept ID: C0152237
- Finding: Anatomical Abnormality
Abnormality of limbs
- Talipes calcaneovalgus
- Abnormality of metabolism/homeostasis
- Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
- MedGen UID: 82787
- Concept ID: C0268307
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Elevated hepatic transaminase
Elevated hepatic transaminase
- MedGen UID: 338525
- Concept ID: C1848701
- Finding: Finding
Abnormality of metabolism/homeostasis
- Metabolic acidosis
Metabolic acidosis
- MedGen UID: 65117
- Concept ID: C0220981
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Renal tubular acidosis
Renal tubular acidosis
- MedGen UID: 90
- Concept ID: C0001126
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Conjugated hyperbilirubinemia
- Abnormality of the cardiovascular system
- Right ventricular hypertrophy
Right ventricular hypertrophy
- MedGen UID: 57981
- Concept ID: C0162770
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Right ventricular hypertrophy
- Abnormality of the digestive system
- Cholestatic liver disease
Cholestatic liver disease
- MedGen UID: 163651
- Concept ID: C0860204
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Giant cell hepatitis
Giant cell hepatitis
- MedGen UID: 45030
- Concept ID: C0027613
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Jaundice
Jaundice
- MedGen UID: 43987
- Concept ID: C0022346
- Finding: Sign or Symptom
Abnormality of the digestive system
- Cholestatic liver disease
- Abnormality of the ear
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Abnormality of the ear
- Low-set ears
- Abnormality of the endocrine system
- Nephrogenic diabetes insipidus
Nephrogenic diabetes insipidus
- MedGen UID: 57876
- Concept ID: C0162283
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Nephrogenic diabetes insipidus
- Abnormality of the genitourinary system
- Aminoaciduria
Aminoaciduria
- MedGen UID: 116067
- Concept ID: C0238621
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Glycosuria
Glycosuria
- MedGen UID: 42267
- Concept ID: C0017979
- Finding: Finding
Abnormality of the genitourinary system
- Kidney disorder
Kidney disorder
- MedGen UID: 9635
- Concept ID: C0022658
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Nephrocalcinosis
Nephrocalcinosis
- MedGen UID: 10222
- Concept ID: C0027709
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Proteinuria
Proteinuria
- MedGen UID: 10976
- Concept ID: C0033687
- Finding: Finding
Abnormality of the genitourinary system
- Aminoaciduria
- Abnormality of the integument
- Ichthyosis
Ichthyosis
- MedGen UID: 7002
- Concept ID: C0020757
- Finding: Disease or Syndrome
Abnormality of the integument
- Pruritus
Pruritus
- MedGen UID: 19534
- Concept ID: C0033774
- Finding: Sign or Symptom
Abnormality of the integument
- Ichthyosis
- Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita
- MedGen UID: 2455
- Concept ID: C0003886
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hip dysplasia
Hip dysplasia
- MedGen UID: 1640560
- Concept ID: C4551649
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Lissencephaly
Lissencephaly
- MedGen UID: 78604
- Concept ID: C0266463
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
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