U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Renal-hepatic-pancreatic dysplasia 1(RHPD1)

MedGen UID:
811626
Concept ID:
C3715199
Disease or Syndrome
Synonym: RHPD1
 
Gene (location): NPHP3 (3q22.1)
 
Monarch Initiative: MONDO:0008833
OMIM®: 208540

Definition

Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene. [from MONDO]

Clinical features

From HPO
Polycystic kidney disease
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Ureteral atresia
MedGen UID:
120572
Concept ID:
C0266320
Congenital Abnormality
A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.
Enlarged kidney
MedGen UID:
108156
Concept ID:
C0542518
Finding
An abnormal increase in the size of the kidney.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Stage 5 chronic kidney disease
MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Renal dysplasia
MedGen UID:
760690
Concept ID:
C3536714
Congenital Abnormality
The presence of developmental dysplasia of the kidney.
Aortic valve stenosis
MedGen UID:
1621
Concept ID:
C0003507
Pathologic Function
The presence of a stenosis (narrowing) of the aortic valve.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Portal hypertension
MedGen UID:
9375
Concept ID:
C0020541
Disease or Syndrome
Increased pressure in the portal vein.
Situs inversus
MedGen UID:
1642262
Concept ID:
C4551493
Congenital Abnormality
A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.
Cholestasis
MedGen UID:
925
Concept ID:
C0008370
Disease or Syndrome
Impairment of bile flow due to obstruction in bile ducts.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Cirrhosis of liver
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Biliary cirrhosis
MedGen UID:
44182
Concept ID:
C0023892
Disease or Syndrome
Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.
Pancreatic cysts
MedGen UID:
45293
Concept ID:
C0030283
Disease or Syndrome
A cyst of the pancreas that possess a lining of mucous epithelium.
Intestinal malrotation
MedGen UID:
113153
Concept ID:
C0221210
Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Hepatic fibrosis
MedGen UID:
116093
Concept ID:
C0239946
Disease or Syndrome
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Bile duct proliferation
MedGen UID:
120603
Concept ID:
C0267818
Disease or Syndrome
Proliferative changes of the bile ducts.
Hepatic cysts
MedGen UID:
82761
Concept ID:
C0267834
Disease or Syndrome
A cystic lesion located in the liver.
Pancreatic fibrosis
MedGen UID:
120607
Concept ID:
C0267952
Disease or Syndrome
Malformation of the hepatic ductal plate
MedGen UID:
346605
Concept ID:
C1857519
Finding
Hyperechogenic pancreas
MedGen UID:
347581
Concept ID:
C1857945
Disease or Syndrome
Dandy-Walker malformation
MedGen UID:
419183
Concept ID:
C2931867
Congenital Abnormality
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Pulmonary hypoplasia
MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Polysplenia
MedGen UID:
383959
Concept ID:
C1856659
Congenital Abnormality
Polysplenia is a congenital disease manifested by multiple small accessory spleens.
Asplenia
MedGen UID:
1830315
Concept ID:
C5779621
Anatomical Abnormality
Absence (aplasia) of the spleen.
Potter facies
MedGen UID:
78614
Concept ID:
C0266619
Congenital Abnormality
A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.
Preauricular pit
MedGen UID:
120587
Concept ID:
C0266610
Congenital Abnormality
Small indentation anterior to the insertion of the ear.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.

Recent clinical studies

Etiology

Kapur RP, Cole B, Zhang M, Lin J, Fligner CL
Pediatr Dev Pathol 2013 May-Jun;16(3):191-200. Epub 2013 Feb 25 doi: 10.2350/12-12-1281-OA.1. PMID: 23438674
Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Göbel H, Nürnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Völker LA, Dötsch J, Nürnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C
Hum Mol Genet 2013 Jun 1;22(11):2177-85. Epub 2013 Feb 14 doi: 10.1093/hmg/ddt070. PMID: 23418306
Fiskerstrand T, Houge G, Sund S, Scheie D, Leh S, Boman H, Knappskog PM
J Mol Diagn 2010 Jan;12(1):125-31. Epub 2009 Dec 10 doi: 10.2353/jmoldx.2010.090033. PMID: 20007846Free PMC Article
Bernstein J, Chandra M, Creswell J, Kahn E, Malouf NN, McVicar M, Weinberg AG, Wybel RE
Am J Med Genet 1987 Feb;26(2):391-403. doi: 10.1002/ajmg.1320260218. PMID: 3812591

Diagnosis

Zhu H, Zhao ZH, Zhu SY, Xiong F, He LH, Zhang Y, Wang J
BMC Pediatr 2022 Oct 18;22(1):603. doi: 10.1186/s12887-022-03659-7. PMID: 36253741Free PMC Article
Inaguma Y, Kaito H, Morisada N, Iijima K, Tanaka R
Pediatr Int 2019 Feb;61(2):210-212. Epub 2019 Feb 7 doi: 10.1111/ped.13758. PMID: 30734414
Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR
Clin Genet 2017 Apr;91(4):640-646. Epub 2017 Feb 16 doi: 10.1111/cge.12924. PMID: 27874174
Rajagopalan R, Grochowski CM, Gilbert MA, Falsey AM, Coleman K, Romero R, Loomes KM, Piccoli DA, Devoto M, Spinner NB
Am J Med Genet A 2016 Mar;170(3):750-3. Epub 2015 Dec 24 doi: 10.1002/ajmg.a.37512. PMID: 26697755
Bernstein J, Chandra M, Creswell J, Kahn E, Malouf NN, McVicar M, Weinberg AG, Wybel RE
Am J Med Genet 1987 Feb;26(2):391-403. doi: 10.1002/ajmg.1320260218. PMID: 3812591

Prognosis

Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR
Clin Genet 2017 Apr;91(4):640-646. Epub 2017 Feb 16 doi: 10.1111/cge.12924. PMID: 27874174

Clinical prediction guides

Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR
Clin Genet 2017 Apr;91(4):640-646. Epub 2017 Feb 16 doi: 10.1111/cge.12924. PMID: 27874174
Rajagopalan R, Grochowski CM, Gilbert MA, Falsey AM, Coleman K, Romero R, Loomes KM, Piccoli DA, Devoto M, Spinner NB
Am J Med Genet A 2016 Mar;170(3):750-3. Epub 2015 Dec 24 doi: 10.1002/ajmg.a.37512. PMID: 26697755
Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Göbel H, Nürnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Völker LA, Dötsch J, Nürnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C
Hum Mol Genet 2013 Jun 1;22(11):2177-85. Epub 2013 Feb 14 doi: 10.1093/hmg/ddt070. PMID: 23418306
Fiskerstrand T, Houge G, Sund S, Scheie D, Leh S, Boman H, Knappskog PM
J Mol Diagn 2010 Jan;12(1):125-31. Epub 2009 Dec 10 doi: 10.2353/jmoldx.2010.090033. PMID: 20007846Free PMC Article
Devriendt K, Dooms L, Proesmans W, de Zegher F, Desmet V, Eggermont E
Eur J Pediatr 1996 Feb;155(2):87-90. doi: 10.1007/BF02075756. PMID: 8775219

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...