Renal-hepatic-pancreatic dysplasia 1
Summary
Available tests
Clinical tests (54 available)
Genes See tests for all associated and related genes
Also known as: CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3, NPHP3
Summary: nephrocystin 3
Clinical features
Help- Abnormality of head or neck
- Potter facies
Potter facies
- MedGen UID: 78614
- Concept ID: C0266619
- Finding: Congenital Abnormality
Abnormality of head or neck
- Potter facies
- Abnormality of prenatal development or birth
- Oligohydramnios
Oligohydramnios
- MedGen UID: 86974
- Concept ID: C0079924
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Oligohydramnios
- Abnormality of the cardiovascular system
- Aortic valve stenosis
Aortic valve stenosis
- MedGen UID: 1621
- Concept ID: C0003507
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Atrial septal defect
Atrial septal defect
- MedGen UID: 6753
- Concept ID: C0018817
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Patent ductus arteriosus
Patent ductus arteriosus
- MedGen UID: 4415
- Concept ID: C0013274
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Portal hypertension
Portal hypertension
- MedGen UID: 9375
- Concept ID: C0020541
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Situs inversus
Situs inversus
- MedGen UID: 1642262
- Concept ID: C4551493
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Aortic valve stenosis
- Abnormality of the digestive system
- Bile duct proliferation
Bile duct proliferation
- MedGen UID: 120603
- Concept ID: C0267818
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Biliary cirrhosis
Biliary cirrhosis
- MedGen UID: 44182
- Concept ID: C0023892
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Cholestasis
Cholestasis
- MedGen UID: 925
- Concept ID: C0008370
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Cirrhosis of liver
Cirrhosis of liver
- MedGen UID: 7368
- Concept ID: C0023890
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatic cysts
Hepatic cysts
- MedGen UID: 82761
- Concept ID: C0267834
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatic fibrosis
Hepatic fibrosis
- MedGen UID: 116093
- Concept ID: C0239946
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Hyperechogenic pancreas
Hyperechogenic pancreas
- MedGen UID: 347581
- Concept ID: C1857945
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Intestinal malrotation
Intestinal malrotation
- MedGen UID: 113153
- Concept ID: C0221210
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Malformation of the hepatic ductal plate
Malformation of the hepatic ductal plate
- MedGen UID: 346605
- Concept ID: C1857519
- Finding: Finding
Abnormality of the digestive system
- Pancreatic cysts
Pancreatic cysts
- MedGen UID: 45293
- Concept ID: C0030283
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Pancreatic fibrosis
Pancreatic fibrosis
- MedGen UID: 120607
- Concept ID: C0267952
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Bile duct proliferation
- Abnormality of the genitourinary system
- Enlarged kidney
Enlarged kidney
- MedGen UID: 108156
- Concept ID: C0542518
- Finding: Finding
Abnormality of the genitourinary system
- Polycystic kidney disease
Polycystic kidney disease
- MedGen UID: 9639
- Concept ID: C0022680
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal dysplasia
Renal dysplasia
- MedGen UID: 760690
- Concept ID: C3536714
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Stage 5 chronic kidney disease
Stage 5 chronic kidney disease
- MedGen UID: 384526
- Concept ID: C2316810
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Ureteral atresia
Ureteral atresia
- MedGen UID: 120572
- Concept ID: C0266320
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Enlarged kidney
- Abnormality of the immune system
- Asplenia
Asplenia
- MedGen UID: 1830315
- Concept ID: C5779621
- Finding: Anatomical Abnormality
Abnormality of the immune system
- Polysplenia
Polysplenia
- MedGen UID: 383959
- Concept ID: C1856659
- Finding: Congenital Abnormality
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Asplenia
- Abnormality of the integument
- Preauricular pit
Preauricular pit
- MedGen UID: 120587
- Concept ID: C0266610
- Finding: Congenital Abnormality
Abnormality of the integument
- Preauricular pit
- Abnormality of the musculoskeletal system
- Dandy-Walker malformation
Dandy-Walker malformation
- MedGen UID: 419183
- Concept ID: C2931867
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Dandy-Walker malformation
- Abnormality of the respiratory system
- Pulmonary hypoplasia
Pulmonary hypoplasia
- MedGen UID: 78574
- Concept ID: C0265783
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Pulmonary hypoplasia
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