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Gene: Arl3 MGI:1929699

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ADP-ribosylation factor-like 3
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Arl3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Arl3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Senior-Loken Syndrome 8
Global glomerulosclerosis, Retinal dystrophy, Macular atrophy, Glomerular subepithelial immune-co... OMIM:616307
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Malformation of the hepatic ductal plat... OMIM:208540
Mirizzi Syndrome
Elevated hepatic transaminase, Dark urine, Abdominal colic, Nausea, Abdominal pain, Anorexia, Pan... ORPHA:521219
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... ORPHA:2924
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... OMIM:267010
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Intrahepatic cholesta... ORPHA:69663
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Abnormality... ORPHA:480520
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis ORPHA:313906
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... ORPHA:730
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic kidney disease, Chr... ORPHA:85445
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention, Polycystic liver disease, Renal cyst OMIM:174050
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... OMIM:208500
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Cirrhosis, Chronic hepatitis ... OMIM:615207
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts, Abnormal mesen... ORPHA:284
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d... ORPHA:65682
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Feeding difficulties in infancy, Renal cyst, Decreased liver function, Neonatal death OMIM:614870
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro... OMIM:209920
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Multip... ORPHA:1318
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Abdominal di... ORPHA:369
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... OMIM:610199
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
Joubert Syndrome 6
Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Chor... OMIM:610688
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Chronic diarrhea, Enlarged kidney OMIM:615285
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis, Green urine OMIM:614156
Bardet-Biedl Syndrome 10
Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy, Renal cyst OMIM:615987
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Es... OMIM:619652
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... OMIM:301068
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... OMIM:601346
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... ORPHA:2552
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Recurrent otitis... OMIM:615993
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... OMIM:615415
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated uri... ORPHA:892
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom... OMIM:193300
Rhyns Syndrome
Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis, Hypopituitarism, Rod-co... ORPHA:140976
Meckel Syndrome, Type 6
Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, B... OMIM:612284
Cadds
Elevated hepatic transaminase, Cholangitis, Cholestasis ORPHA:369942
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst OMIM:603194
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abdominal pain, Stomatitis, Cholelithiasis, Abnormal biliary tract morp... ORPHA:438274
Mitchell-Riley Syndrome
Absent gallbladder, Diarrhea, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pan... OMIM:615710
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Lipe... OMIM:232220
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Ureteral duplication, Retinal dystrophy, Cholangitis, Pancreatic cysts, Congenital ... OMIM:266920
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Cryptorchidism, Renal cyst, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral re... OMIM:137920
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Psoriasis 14, Pustular
Pustule, Psoriasiform dermatitis, Oligoarthritis, Cholangitis OMIM:614204
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy... ORPHA:464329
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti... ORPHA:90003
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Lipemia retinalis, Nephrolithiasis, Gou... OMIM:232200
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Thyroiditis, ... ORPHA:64744
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Diarrhea, Acute otitis media, Chronic mucocutaneous candidiasis, Protracted... ORPHA:572
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst OMIM:611134
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Diarrhea, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrh... OMIM:308230
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... ORPHA:228426
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dys... OMIM:613730
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Prostatiti... ORPHA:449432
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Eczema, Decreased liver function, Cirrhosis ORPHA:79278
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni... ORPHA:183675
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Optic atrophy, Feeding difficulti... OMIM:618329
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Abdominal distention, Hepatitis, Bloody diarrhea, Hypoplasia of the thym... ORPHA:436252
Mody
Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Pancreati... ORPHA:552
Pancreatic Colipase Deficiency
Cholelithiasis, Chronic diarrhea, Exocrine pancreatic insufficiency ORPHA:309108
Primary Effusion Lymphoma
Abnormal peritoneum morphology, Abdominal distention, Abdominal pain ORPHA:48686
Thyroid Hemiagenesis
Abdominal distention, Jaundice, Constipation ORPHA:95719
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Decreased mitochondrial complex III activity in liver tissue, Chol... OMIM:124000
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Abnorm... ORPHA:564
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Diarrhea, ... OMIM:211600
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abdominal pain, Biliary hyperpl... ORPHA:567983
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Meckel Syndrome, Type 8
Abdominal distention, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria, Abdominal pain OMIM:600989
Alpha-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis ORPHA:846
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Eczema OMIM:177000
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Diarrh... OMIM:240300
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology, Dysuria, Abdominal pain ORPHA:293807
Cirrhosis, Familial
Abdominal distention, Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, I... OMIM:215600
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Pigmentary retinopathy, Choles... ORPHA:79095
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Abdominal pain, Cardiomegaly, Splenomegaly, Jaundice, Splenic ... OMIM:603903
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... OMIM:613070
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... ORPHA:2470
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Acrocephalopolydactyly
Abnormal renal morphology, Protuberant abdomen, Hepatosplenomegaly ORPHA:221054
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdomin... ORPHA:3260
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Recu... OMIM:613610
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts, Retinal vascular tortuosity ORPHA:73229
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased motor nerve conduction velocity, Small intestinal dysmot... ORPHA:298
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:613470
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Jaundice, Gout, Hematuria, Cholelithiasis OMIM:232800
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasi... ORPHA:261265
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97278
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital ner... ORPHA:449563
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Hypospadias OMIM:245550
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Protuberant a... OMIM:608022
Myotonic Dystrophy 1
Feeding difficulties in infancy, Facial diplegia, Dysphagia, Cholelithiasis, Testicular atrophy OMIM:160900
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Abdominal distention, Diarrhea, Cholestasis, Vomiting, Decreased li... OMIM:608104
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Protuberant abdomen, Nephroblastoma, Enlarged kidney OMIM:618272
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... OMIM:608836
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,... ORPHA:79301
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abdominal symptom, H... ORPHA:400
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
Visceral Myopathy 1
Gastroparesis, Intestinal pseudo-obstruction, Aganglionic megacolon, Abdominal pain, Abdominal di... OMIM:155310
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... OMIM:610205
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ... OMIM:145001
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Peroxisome Biogenesis Disorder 3A (Zellweger)
Feeding difficulties in infancy, Hepatomegaly, Poor suck, Polycystic kidney dysplasia OMIM:614859
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Nephroblastoma ORPHA:2849
Joubert Syndrome 18
Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney OMIM:614815
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Intermittent ja... ORPHA:100086
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral r... OMIM:216360
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Pa... ORPHA:2750
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa... ORPHA:1414
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, A... ORPHA:2088
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Test... ORPHA:83469
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Hepat... OMIM:311200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Gastroin... OMIM:276700
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Decre... OMIM:261515
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... OMIM:200995
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Jaundice, Cholesta... ORPHA:79303
Retinitis Pigmentosa 89
Retinal thinning, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Hyperautofluoresc... OMIM:618955
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis ORPHA:848
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal tubu... OMIM:614922
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis OMIM:235700
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... ORPHA:100085
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal obstruction, Abdominal pain, B... ORPHA:2869
Grfoma
Anorexia, Poor appetite, Lack of bowel sounds, Pheochromocytoma, Hepatomegaly, Intermittent jaund... ORPHA:97261
Cimdag Syndrome
Hepatomegaly, Retinal dystrophy, Microvesicular hepatic steatosis, Feeding difficulties, Cholelit... OMIM:619273
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis OMIM:194380
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Recurrent pneumonia, Optic atrophy, Nephrotic syndrome, ... OMIM:617303
Wolman Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Abdominal distention, Malnutrition, Hepatic failure ORPHA:75233
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Renal tubular dysfunction, Cholelithiasis, Hepatic failure, Poor suck OMIM:614886
Donohue Syndrome
Abdominal distention, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-c... OMIM:246200
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:231222
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Pustule, Feeding difficulties in infancy, Atopic dermatitis, Vomiting, Cholelithiasis ORPHA:171876
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Hereditary Spherocytosis
Hepatomegaly, Maculopapular exanthema, Abdominal pain, Splenomegaly, Jaundice, Abdominal distenti... ORPHA:822
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen, Prolong... ORPHA:226313
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality ... ORPHA:314473
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Episodic abdominal pain, Hepatosplenomegaly, Choleli... ORPHA:3166
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal urinary color, Abdominal pain, Jaundice, Biliary tract abnormality, Abnorm... ORPHA:234
Dextrocardia
Abnormality of the spleen, Abnormal renal morphology, Abnormality of the ureter, Abnormality of a... ORPHA:1666
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Seborrheic dermatitis, Pancreatic cysts, Dilatation of t... OMIM:274000
Polysyndactyly With Cardiac Malformation
Stillbirth, Renal cyst, Hepatic cysts OMIM:263630
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties... OMIM:257200
Congenital Tufting Enteropathy
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Optic disc coloboma, Arthritis, Chole... ORPHA:92050
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Decreased nerve cond... ORPHA:309256
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Aganglionic megacolon, Abdominal distention, Diarrhea, Malnutrition... ORPHA:95427
Spherocytosis, Type 1
Splenomegaly, Jaundice, Cholelithiasis OMIM:182900
Metachromatic Leukodystrophy
Urinary incontinence, Bowel incontinence, Decreased nerve conduction velocity, Abnormal gallbladd... ORPHA:512
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Port... ORPHA:171
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Nausea, Abdominal pain, Abdominal distention, Jaundice, Chroni... ORPHA:469
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Diarrhea, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Vomiting, Cirrhosis, ... OMIM:602579
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... OMIM:618061
Nephronophthisis 14
Retinal degeneration, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Bowel incontinence, Decreased nerve conduction velocity, Abdominal distenti... ORPHA:309271
Peritoneal Cystic Mesothelioma
Abdominal distention, Peritonitis, Constipation, Abdominal pain ORPHA:168816
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Pancreatoblastoma
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting, Pancreatic calcification ORPHA:677
Distal Duplication 5Q
Hypospadias, Eczema, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Chorioretinal coloboma ORPHA:96097
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin... ORPHA:79259
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst OMIM:614883
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility... OMIM:613662
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Vomiting, Elevated hepatic i... OMIM:619991
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Decreased liver function, Hepatic cysts OMIM:600666
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Chylomicron Retention Disease
Elevated hepatic transaminase, Abdominal distention, Diarrhea, Vomiting, Retinopathy, Increased h... ORPHA:71
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Abdominal distention, Jaundice, Hepatitis, Biliary ... ORPHA:186
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, C... ORPHA:309263
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Renal tubular dysfunctio... ORPHA:99885
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Feeding difficulties in infancy, Cholelithiasis, Papilledema OMIM:618775
Malignant Peritoneal Mesothelioma
Abdominal distention, Peritonitis, Ileus, Abdominal pain ORPHA:168811
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... OMIM:203700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati... ORPHA:83617
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Biliary atresia, Feeding difficulties, Pancreatic aplasia, Aplasia/Hypoplas... ORPHA:2255
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Facial palsy, Aplasia/Hypoplasia of the ... ORPHA:456312
Fanconi Anemia, Complementation Group O
Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis OMIM:613390
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Proteinuria, Gastroparesis, Abnor... ORPHA:85443
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Asplenia, Annular pancreas, Hydronephrosis ORPHA:210122
Joubert Syndrome 16
Retinal dystrophy, Renal cyst, Nephronophthisis OMIM:614465
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Nephrolithiasis, Hematu... ORPHA:774
Diarrhea 12, With Microvillus Atrophy
Abdominal distention, Dependency on parenteral nutrition, Secretory diarrhea, Bronchiectasis, Vom... OMIM:619445
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Optic atrophy, Renal cyst, Hepatic fibrosis, Cirrhosis, Rod-cone dys... OMIM:601539
Wilson Disease
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hypoparathyroi... OMIM:277900
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ... OMIM:130650
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Optic nerve dysplasia, P... OMIM:214110
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias, Malformation of the hepatic ductal plate OMIM:614175
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... OMIM:227810
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Bronchiectasis, Keratoconjunctivitis sicca, Rheumatoid arthritis... ORPHA:79128
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Osteomyelitis, Abdominal distention, Arthritis, Septic arthritis OMIM:619423
Thyroid Hypoplasia
Abdominal distention, Jaundice, Constipation, Thyroid hypoplasia ORPHA:95720
Papillorenal Syndrome
Retinal detachment, Multicystic kidney dysplasia, Renal malrotation, Proteinuria, Morning glory a... OMIM:120330
Acute Intermittent Porphyria
Dark urine, Nausea and vomiting, Renal insufficiency, Urinary incontinence, Dysuria, Abdominal pa... ORPHA:79276
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Pigmentary... ORPHA:110
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Joubert Syndrome 20
Retinopathy, Renal cyst OMIM:614970
Peroxisome Biogenesis Disorder 4A (Zellweger)
Feeding difficulties in infancy, Hepatomegaly, Renal cyst OMIM:614862
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Abd... OMIM:256300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Abdominal distention, Mi... OMIM:235255
Glycogen Storage Disease Xii
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... OMIM:611881
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:256810
Gonadoblastoma
Abdominal pain, Abdominal distention, Ovarian gonadoblastoma, Abnormality of the ovary, Dysgerminoma ORPHA:206484
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Abdominal distention, Ab... ORPHA:1655
Cerebrotendinous Xanthomatosis
Optic disc pallor, Diarrhea, Pseudobulbar paralysis, Abnormality of central somatosensory evoked ... OMIM:213700
Familial Visceral Myopathy
Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Abdominal distention, Megacystis, Abdomi... ORPHA:2604
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... ORPHA:1834
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst, Chorioretinal coloboma ORPHA:2031
Tropical Pancreatitis
Pancreatic adenocarcinoma, Nausea, Jaundice, Malnutrition, Chronic calcifying pancreatitis, Vomit... ORPHA:103918
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... OMIM:613095
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts ORPHA:3033
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Glycosuria OMIM:606824
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Ovarian ... ORPHA:370348
Glucose-Galactose Malabsorption
Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph... ORPHA:35710
Athyreosis
Abdominal distention, Constipation, Feeding difficulties ORPHA:95713
Senior-Boichis Syndrome
Elevated hepatic transaminase, Thickening of the tubular basement membrane, Malformation of the h... ORPHA:84081
Triosephosphate Isomerase Deficiency
Optic disc pallor, Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithi... OMIM:615512
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg... OMIM:619365
Sepsis In Premature Infants
Hepatomegaly, Splenomegaly, Jaundice, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Olig... ORPHA:90051
Hereditary Elliptocytosis
Abdominal pain, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Cholelithiasis ORPHA:288
Letterer-Siwe Disease
Seborrheic dermatitis, Abdominal distention, Jaundice, Hepatosplenomegaly, Stomatitis OMIM:246400
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Feeding difficulties, Ovarian cyst, Gastroesophag... OMIM:618188
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, Vomiting, H... OMIM:300048
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephroblastoma, Stage 5 chronic kidney disease, Nephrotic syndrome, ... OMIM:194080
Bohring-Opitz Syndrome
Retinal atrophy, Nephroblastoma, Cardiomegaly, Feeding difficulties in infancy, Optic atrophy, Ur... ORPHA:97297
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Multinucleated neuron, Neonatal deat... OMIM:236500
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal retinal morphology on macular OCT... ORPHA:251004
Pediatric Systemic Lupus Erythematosus
Dark urine, Myositis, Renal insufficiency, Skin rash, Proteinuria, Abdominal pain, Discoid lupus ... ORPHA:93552
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Feeding difficulties, Unilateral facial palsy, Chronic constipati... OMIM:619480
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Qazi-Markouizos Syndrome
Cryptorchidism, Chronic constipation, Abdominal distention ORPHA:3010
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Osteomyelitis, Cholestasis ORPHA:232
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Microvesicular hepatic steatosis, ... OMIM:617156
Ovarian Fibrothecoma
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality of the ovary ORPHA:314478
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... OMIM:614817
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, ... OMIM:602782
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis, Cryptorchidism, ... ORPHA:2241
Castleman Disease
Nausea and vomiting, Renal insufficiency, Intestinal obstruction, Abdominal pain, Abdominal diste... ORPHA:160
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Stag... OMIM:615994
Meckel Syndrome 13
Retinopathy, Polycystic kidney dysplasia OMIM:617562
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the gallbladder, Micrope... ORPHA:96092
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Micropenis, Cholelithiasis, Decreased testicular size OMIM:300534
Nephronophthisis 11
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Schimke Immuno-Osseous Dysplasia
Proteinuria, Minimal change glomerulonephritis, Abdominal distention, Stage 5 chronic kidney dise... ORPHA:1830
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Optic atrop... ORPHA:505248
Folinic Acid-Responsive Seizures
Abdominal distention, Optic atrophy ORPHA:79097
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Optic nerve hypoplasia, Pancreatic aplasia OMIM:609069
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Polyembryoma
Abnormal peritoneum morphology, Abdominal distention, Macroorchidism, Abdominal pain ORPHA:180229
Dehydrated Hereditary Stomatocytosis
Abdominal pain, Portal vein thrombosis, Splenomegaly, Intermittent jaundice, Cholelithiasis ORPHA:3202
Meckel Syndrome 14
Abdominal distention, Protuberant abdomen, Hepatic fibrosis, Polycystic kidney dysplasia OMIM:619879
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Cardiomegaly, Feeding difficulties in infancy, Cryptorchidism... ORPHA:116
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction OMIM:193250
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst OMIM:605231
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth OMIM:600972
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal arteriolar tortuosity, Retinal hemorrhage, Renal cyst, Hematuria OMIM:611773
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Nausea and vomiting, Fatal liver failure in infancy, Renal salt wa... ORPHA:275761
Porphyria Due To Ala Dehydratase Deficiency
Nausea, Abdominal pain, Abdominal distention, Diarrhea, Increased urinary porphobilinogen, Consti... ORPHA:100924
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Abdominal distention, Chronic diarrhea, Bronchiectasis, Cholestasis, Vomiting, Gast... OMIM:620233
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:614887
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Portal hypertension, Cholestas... OMIM:613658
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation ORPHA:160148
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot... OMIM:614866
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Ureteral duplication, Biliary atresia, Glycosuria, Pancreatic hypoplasia OMIM:600001
Pentalogy Of Cantrell
Absent gallbladder, Renal agenesis, Hypospadias, Polysplenia, Renal dysplasia ORPHA:1335
Prune Belly Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
Small Bowel Atresia
Abdominal distention, Vomiting, Feeding difficulties ORPHA:1201
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... OMIM:249000
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... ORPHA:64739
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Constipation, Cholelithiasis, Hy... ORPHA:464738
Joubert Syndrome 7
Retinal dystrophy, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
H Syndrome
Psoriasiform dermatitis, Abnormality of the kidney, Bronchiectasis, Hepatosplenomegaly, Chronic r... ORPHA:168569
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Skin rash, Decreased response to growth h... ORPHA:811
Colonic Atresia
Abdominal distention, Abnormal mesentery morphology, Abdominal situs inversus ORPHA:1198
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... ORPHA:97362
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Diarrhea, Periportal fibrosis, Hypo... ORPHA:79328
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... ORPHA:2075
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Feeding difficulties, Nephrocalci... ORPHA:445038
Lead Poisoning
Skin rash, Anorexia, Abdominal pain, Abdominal distention, Chronic kidney disease, Renal tubular ... ORPHA:330015
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Biliary atresia ORPHA:565899
Steinfeld Syndrome
Absent gallbladder, Unilateral renal dysplasia, Retinal coloboma OMIM:184705
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Hepatic fibrosis, Gastroesophageal reflux, Neonatal death, Intrahe... OMIM:619534
Trisomy 8P
Cryptorchidism, Fetal pyelectasis, Micropenis, Nephrocalcinosis, Constipation, Aplasia/Hypoplasia... ORPHA:264450
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Abnormal chorioretinal morphology, Feedi... ORPHA:912
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Abdominal distention, Optic disc coloboma, Secretory diarrhea, Renal duplic... OMIM:270420
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer... OMIM:618500
Aceruloplasminemia
Abnormality of retinal pigmentation, Abnormal pancreas morphology, Macular degeneration, Hepatic ... ORPHA:48818
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Recurrent pancreatitis, Hypop... OMIM:618268
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibrosis, Rod-cone dystro... OMIM:618161
Atelosteogenesis Type I
Multiple renal cysts, Abnormal pancreatic duct morphology, Retinal dysplasia ORPHA:1190
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Biliary tract abnormality, Abnormality... OMIM:175200
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular ... ORPHA:99880
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Abdominal distention, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Verheij Syndrome
Renal agenesis, Optic nerve hypoplasia, Renal hypoplasia, Renal cyst, Feeding difficulties OMIM:615583
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Reye syndrome... ORPHA:26791
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Renal cyst, Feeding difficulties, Horseshoe kidney, Rod-cone dystrophy, Retinal d... ORPHA:166035
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Nausea and vomiting, Renal dysplasia, Recurrent skin infections, Urinary blad... ORPHA:79403
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Sialuria
Hepatomegaly, Splenomegaly, Hypoplastic nipples, Protuberant abdomen, Increased level of N-acetyl... OMIM:269921
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular ... ORPHA:143
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated... ORPHA:653
Necrotizing Enterocolitis
Abdominal distention, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting ORPHA:391673
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul... ORPHA:157
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... OMIM:615237
Porphyria, Congenital Erythropoietic
Hepatomegaly, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Cholelithiasis, Pink urine OMIM:263700
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Abdominal distention, Renal hypoplasia, Ureteral agene... OMIM:617666
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Annular Pancreas
Annular pancreas, High intestinal obstruction ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction OMIM:167750
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Feeding difficulties in i... OMIM:212065
Microvillus Inclusion Disease
Nephrocalcinosis, Abdominal distention, Diarrhea, Abnormal renal physiology ORPHA:2290
Meacham Syndrome
Accessory spleen, Horseshoe kidney, Stillbirth, Neonatal death, Enlarged kidney OMIM:608978
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Mucopolysacchariduria, Protuberant... OMIM:252500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia OMIM:614091
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Retinal dystrophy, Optic atrophy, Stage 5 chronic kidney dis... OMIM:243910
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina... OMIM:306955
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Protuberant abdomen OMIM:277300
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne... OMIM:603860
Trisomy 10P
Absent gallbladder, Abnormality of the kidney, Abnormal auditory evoked potentials, Multiple rena... ORPHA:171929
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... ORPHA:228308
Joubert Syndrome 1
Optic disc pallor, Retinal dystrophy, Optic disc coloboma, Renal cyst, Hepatic fibrosis, Retinal ... OMIM:213300
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Renal cyst, Vomiting, Gastroesophageal reflux, Micropenis, Hepatic ... OMIM:270400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal co... OMIM:619351
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Seborrheic dermatitis, Renal cyst, Uveitis, Con... ORPHA:488618
Spondyloepimetaphyseal Dysplasia, Shohat Type
Splenomegaly, Hepatomegaly, Abdominal distention OMIM:602557
Pancreatitis, Hereditary
Abdominal pain, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancreati... OMIM:167800
Alagille Syndrome 1
Elevated hepatic transaminase, Duplicated collecting system, Hepatocellular carcinoma, Multiple s... OMIM:118450
22Q11.2 Deletion Syndrome
Feeding difficulties in infancy, Hypoplasia of the thymus, Gastroesophageal reflux, Vesicouretera... ORPHA:567
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Mpdu1-Cdg
Eczema, Decreased response to growth hormone stimulation test, Optic atrophy, Renal cortical cyst... ORPHA:79323
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hepatosplenomegaly, Chronic constipation, Cholecystitis, Recurrent otitis media, Ch... OMIM:301066
Achondrogenesis Type 1A
Abdominal distention ORPHA:93299
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hepa... ORPHA:699
Endocrine-Cerebroosteodysplasia
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney OMIM:612651
Thyroid Ectopia
Abdominal distention, Jaundice, Constipation, Ectopic thyroid ORPHA:95712
Leprechaunism
Hepatomegaly, Enlarged ovaries, Abdominal distention, Long penis, Hypercalciuria, Nephrocalcinosi... ORPHA:508
Ogden Syndrome
Global glomerulosclerosis, Eczema, Cardiomegaly, Cryptorchidism, Jaundice, Microvesicular hepatic... OMIM:300855
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abdominal distention, Aplasia of the bladder, Vomiti... ORPHA:158684
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Cyst of the ductus choledochus, Feeding difficulties, Hypoplastic nipples, Hydro... ORPHA:480880
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Eczema, Abdominal pain, Abdominal distention, Diarrhea, Thyroiditi... OMIM:212750
Hurler Syndrome
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri... OMIM:607014
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Hydronephrosis, Cryptorchidism OMIM:300712
Trisomy 13
Abnormal retinal vascular morphology, Cryptorchidism, Abnormality of the ureter, Optic atrophy, M... ORPHA:3378
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Fetal megacystis, Co... ORPHA:73246
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Splenomegaly, Renal hypoplasia, Periportal fibrosis, Hypoplastic nipples, Protubera... OMIM:269860
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic... ORPHA:1988
X-Linked Acrogigantism
Enlarged pituitary gland, Abnormal optic chiasm morphology, Elevated circulating growth hormone c... ORPHA:300373
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Bowel incontinence, ... ORPHA:261494
Gaucher Disease Type 1
Hepatomegaly, Proteinuria, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Osteoarthritis,... ORPHA:77259
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Recurrent inf... ORPHA:51890
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Facial... OMIM:615873
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Myositis, Pericarditis, Abnormal chorioretinal morphology, R... ORPHA:3310
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Lathosterolosis
Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Horseshoe kidney, ... OMIM:607330
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Feeding difficulties, Hypoautofluorescent retinal lesion, Horseshoe kidney, Rod-cone ... OMIM:250410
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Exocrine pan... ORPHA:309031
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Unilateral renal agenesis, Methylmalonic aciduria, Feeding difficulties, Reduced numbe... ORPHA:79284
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Anorexia, Chronic diarrhea, Hyp... OMIM:557000
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Hypospadias, Abnormal retinal morphology, Abnormal renal physiolog... ORPHA:96176
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain OMIM:277320
Zttk Syndrome
Absent gallbladder, Polyuria, Unilateral renal agenesis, Feeding difficulties in infancy, Chronic... OMIM:617140
Branchiootorenal Syndrome 1
Renal malrotation, Facial palsy, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Po... OMIM:113650
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Hypospadias, Protuberant abdomen ORPHA:457485
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea ORPHA:103910
Cranioectodermal Dysplasia 1
Hepatomegaly, Retinal dystrophy, Malformation of the hepatic ductal plate, Renal magnesium wastin... OMIM:218330
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Micropenis, Hydronephrosis ORPHA:163979
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Retinal coloboma, Nephroblastoma, Bifid ureter, ... ORPHA:500095
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney disease, Nephr... OMIM:242900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral ren... ORPHA:2237
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Premature osteoarthritis, Hepatosplenomegaly ORPHA:93352
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, D... OMIM:230900
Bone Marrow Failure Syndrome 3
Retinal dystrophy, Eczema, Pancreatic steatosis, Cryptorchidism, Feeding difficulties, Retinal dy... OMIM:617052
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling, Protuberant abdomen OMIM:617102
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Re... ORPHA:464311
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Acne, Unilateral renal agenesis, Sebo... OMIM:188400
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Cherry red spot of the macula, Neoplasm of the liver, ... ORPHA:77293
Bohring-Opitz Syndrome
Supernumerary nipple, Feeding difficulties, Gastroesophageal reflux, Abnormal optic nerve morphol... OMIM:605039
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Optic atrophy, Dysp... ORPHA:581
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Pallister-Hall Syndrome
Thyroid dysgenesis, Renal dysplasia, Hydroureter, Decreased response to growth hormone stimulatio... OMIM:146510
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Absent gallbladder, Micropenis OMIM:617925
Joubert Syndrome 21
Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Dysphagia, Retinopathy, Hyperechogenic ki... OMIM:615636
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Feeding difficulties, H... ORPHA:2072
Tuberous Sclerosis Complex
Renal insufficiency, Retinal astrocytic hamartoma, Abnormality of the kidney, Retinal hamartoma, ... ORPHA:805
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Protuberant abdomen, Generalized aminoaciduria, Secondary hyperparathyroidism OMIM:264700
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Cryptorchidism, Abno... ORPHA:3376
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hypospadias, Eczema, Anterior pituitary hypoplasia, Unilateral renal agenesis,... ORPHA:464306
Syndromic Diarrhea
Hepatomegaly, Gastritis, Splenomegaly, Renal hypoplasia, Bloody diarrhea, Abnormality of the live... ORPHA:84064
Nabais Sa-De Vries Syndrome, Type 2
Feeding difficulties in infancy, Chronic constipation, Multicystic kidney dysplasia, Gastroesopha... OMIM:618829
Yellow Fever
Acute pancreatitis, Anuria, Skin rash, Elevated circulating aspartate aminotransferase concentrat... ORPHA:99829
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Retinal dystrophy, Hepatic fibrosis, Polycystic kidney dysplasia, Micropenis OMIM:263520
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri... OMIM:253220
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Acne ORPHA:3191
Currarino Syndrome
Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Perianal abscess, G... OMIM:176450
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Abnormality of... OMIM:209900
Cornelia De Lange Syndrome 1
Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Cryptorchidism, Optic disc coloboma, Optic a... OMIM:122470
Distal Renal Tubular Acidosis
Hyperphosphaturia, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercal... ORPHA:18
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:3186
Mosaic Trisomy 1
Hepatic agenesis, Renal cortical cysts, Renal cyst, Micropenis, Penile hypospadias ORPHA:1692
Hereditary Chronic Pancreatitis
Jaundice, Recurrent pancreatitis, Pancreatic calcification, Abdominal pain ORPHA:676
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... OMIM:614527
Cardiac-Urogenital Syndrome
Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusion, Enlarged kid... OMIM:618280
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Multicystic kidney dysplasia, Facial palsy, Supernumerary nipple, Opti... ORPHA:261349
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Developmental Delay With Or Without Dysmorphic Facies And Autism
Supernumerary nipple, Cryptorchidism, Optic disc coloboma, Renal hypoplasia, Renal cyst, Feeding ... OMIM:618454
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Chronic constipation, Decreased response to growth hormone stimulation ... ORPHA:485405
Distal Deletion 12Q
Late onset atopic dermatitis, Unilateral cryptorchidism, Ectopic kidney, Pituitary adenoma, Bilia... ORPHA:96149
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Optic atrophy, Renal cyst, Feeding difficulties, Gastroesophageal re... OMIM:616975
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Shwachman-Diamond Syndrome 2
Hepatomegaly, Diarrhea, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617941
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico... ORPHA:107
Cat Eye Syndrome
Renal agenesis, Biliary atresia, Horseshoe kidney, Chorioretinal coloboma, Vesicoureteral reflux,... OMIM:115470
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Abdominal distention, Gastroesophageal reflux, Feeding difficulties OMIM:620275
Joubert Syndrome 14
Morning glory anomaly, Optic atrophy, Renal cyst OMIM:614424
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Optic atrophy, Cystic renal dy... OMIM:220500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Hydrocele testis, Po... ORPHA:314588
Williams Syndrome
Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Gast... ORPHA:904
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Feeding difficulties, Pigmentary retinopathy,... OMIM:618460
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention ORPHA:1876
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Optic atrophy, Septo-optic dysplasia ORPHA:3301
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Duplicated collecting system, Annular pancreas, Rod-cone dystrophy, Feeding difficulties ORPHA:488642
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolon, Renal agenes... OMIM:229850
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Eczema, Feeding difficulties, Constipation, Annular pancreas OMIM:618162
Congenital Disorder Of Glycosylation, Type If
Feeding difficulties, Optic atrophy, Renal cortical cysts, Erythroderma OMIM:609180
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Ectopic kidney, Cryptorchidism, Horseshoe kidney, M... OMIM:227646
Joubert Syndrome 2
Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioretinal coloboma, ... OMIM:608091
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Feeding difficulties in infancy, Crypt... OMIM:257300
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney, Feeding difficulties OMIM:261740
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,... ORPHA:79404
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Optic atrophy, Renal cyst, Polycystic ovaries, Vomiting ORPHA:137675
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ... OMIM:618733
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Abnormal liver ... ORPHA:99776
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Protuberant abdomen OMIM:613330
Vitamin D-Dependent Rickets, Type 2A
Protuberant abdomen, Secondary hyperparathyroidism OMIM:277440
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Intestinal pseudo-obstruction, Decreased response to growth hormon... ORPHA:273
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst, Feeding diffi... OMIM:617260
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic... OMIM:312870
Alagille Syndrome
Hepatomegaly, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Cholestasis, N... ORPHA:52
Trisomy 1Q
Cryptorchidism, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormality... ORPHA:2538
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Abnormal p... ORPHA:95455
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Nasogastric tube feeding in infancy, Hypercalciuria, Renal cyst, Nephrocalcin... ORPHA:369837
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Eczema, Supernumerary nipple ORPHA:1001
Hypocalcemic Vitamin D-Dependent Rickets
Protuberant abdomen, Generalized aminoaciduria, Secondary hyperparathyroidism ORPHA:289157
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Platyspondylic Dysplasia, Torrance Type
Abdominal distention ORPHA:85166
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Abdomin... ORPHA:93271
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Gastroparesis, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral r... ORPHA:500150
Tuberous Sclerosis 1
Renal cyst, Achromatic retinal patches, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma OMIM:191100
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Thyroiditis, Congenital... ORPHA:733
Fanconi Anemia, Complementation Group Q
Biliary atresia OMIM:615272
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Feeding difficulties, Small pituitary gland, Protuberant abdomen, Tube feeding, Micr... OMIM:619479
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Feeding difficulties in infancy, Abn... ORPHA:1606
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Retinal hamartoma, Renal cyst, Achromatic reti... OMIM:613254
Genitopatellar Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Feeding difficulties, Gastroesophageal reflux, Hydr... ORPHA:85201
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... ORPHA:2131
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Macular hypoplasia, Chorioretinal coloboma, Annular p... OMIM:147791
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Constipation, Ectopic thyroid, Thyroid hyp... OMIM:218700
Thanatophoric Dysplasia, Type I
Neonatal death, Protuberant abdomen OMIM:187600
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Stillbirth, Pancreatic islet-cell hyperp... OMIM:215140
Bardet-Biedl Syndrome 12
Hydronephrosis, Rod-cone dystrophy, Hydroureter, Cystic renal dysplasia OMIM:615989
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Biliary cirrhosis, Bronchiect... OMIM:219700
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Renal insufficiency, Hypospadias, Retinal dystrophy, Supernumerary... ORPHA:397715
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Abdominal pain, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... OMIM:616263
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Stillbirth, Renal hypoplasia, Renal cyst OMIM:616300
Kasabach-Merritt Syndrome
Abdominal distention, Hepatic hemangioma, Abdominal pain ORPHA:2330
Schneckenbecken Dysplasia
Stillbirth, Protuberant abdomen OMIM:269250
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Abdominal pain, Renal hypoplasia/aplasia, Ho... ORPHA:2092
Neurofibroma
Enlargement of parotid gland, Intestinal bleeding, Recurrent otitis media, Abnormal biliary tract... ORPHA:252183
Nephronophthisis 1
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... OMIM:256100
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Aganglionic megacolon, Nephroblastoma, Recurrent pneumonia, Abnormalit... ORPHA:798
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Cryptorchidism, Gastroesophagea... ORPHA:2059
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen OMIM:184250
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... ORPHA:2473
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Urethral atresia, Hydronephrosis OMIM:271520
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Protuberant abdomen OMIM:151210
Achondrogenesis, Type Ii
Stillbirth, Protuberant abdomen OMIM:200610
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Bilobate gallbladder, Feeding difficulties in infancy, Cryptor... OMIM:261540
Immunodeficiency 96
Recurrent otitis media, Multicystic kidney dysplasia, Eczema OMIM:619774
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Jacobsen Syndrome
Multicystic kidney dysplasia, Eczema, Feeding difficulties in infancy, Cryptorchidism, Constipati... ORPHA:2308
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Mowat-Wilson Syndrome
Hypospadias, Aganglionic megacolon, Supernumerary nipple, Abnormality of the kidney, Cryptorchidi... OMIM:235730
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Renal hypo... ORPHA:818
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Renal cyst OMIM:615560
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Feeding difficulties, Gastroesophageal reflux, Polycystic kidney dyspl... OMIM:606232
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Bilateral cryptorchidism, Optic atrophy, Feeding difficulties... OMIM:616268
Atelosteogenesis, Type I
Neonatal death, Cryptorchidism, Stillbirth, Protuberant abdomen OMIM:108720
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Feeding difficulties ORPHA:261197
Fibrochondrogenesis 1
Stillbirth, Protuberant abdomen OMIM:228520
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Retinal coloboma, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Chorioretinal dysplasia, Feeding difficulties in infancy, Oligosacchariduria... ORPHA:534
Penile Agenesis
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Joubert Syndrome 39
Retinal dystrophy, Polycystic kidney dysplasia OMIM:619562
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the spleen, Optic atrophy,... ORPHA:991
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Eisenmenger Syndrome
Hepatomegaly, Renal insufficiency, Abdominal distention, Abnormality of the liver, Bacterial endo... ORPHA:97214
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea OMIM:214700
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadia... ORPHA:373
Mucolipidosis Type Ii
Splenomegaly, Hepatosplenomegaly, Protuberant abdomen, Otitis media, Left ventricular hypertrophy... ORPHA:576
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Cardiomegaly, Erythema nodosum, Spleno... OMIM:256040
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Renal cyst, Keratoconjunctivitis sicca, Gast... ORPHA:495875
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Abdominal pain, Retinal hama... ORPHA:538
C Syndrome
Hepatomegaly, Renal cortical cysts, Cryptorchidism OMIM:211750
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Stage 5 chronic kidn... ORPHA:2044
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fi... OMIM:236700
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Asplenia, Dilatation of the renal pelvis, Dilatation of the bladder, Ne... OMIM:265380
Opsismodysplasia
Renal phosphate wasting, Protuberant abdomen OMIM:258480
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Renal hypoplasia, Renal cyst, Feeding difficulties, Stillbirth, Gastroesophageal ... OMIM:210710
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Achondrogenesis, Type Ia
Stillbirth, Protuberant abdomen OMIM:200600
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Multicystic kidney dysplasia, Optic nerve dysplasia, Retinal dysplasia... OMIM:615287
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O... ORPHA:791
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium ORPHA:220460
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Retin... OMIM:610188
Hajdu-Cheney Syndrome
Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidn... OMIM:200980
Lethal Kniest-Like Dysplasia
Protuberant abdomen ORPHA:2347
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Retinal coloboma, Polycystic kidney dysplasia OMIM:616546
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Peripheral retinal avascularization, Cryptorchidism, Hepatosplenomegaly, Feeding di... ORPHA:96334
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Renal cyst OMIM:272460
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Viss Syndrome
Chronic gastritis, Retinal detachment, Eczema, Abdominal distention, Chronic diarrhea, Atopic der... OMIM:619472
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Papillary renal cell carcinoma ORPHA:363618
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Splenomegaly, Multiple renal cysts, Periodontitis ORPHA:955
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Annular pancreas OMIM:268400
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Chronic otitis media, Hydronep... ORPHA:1507
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic... ORPHA:744
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Bowel incontinence, Ectopi... ORPHA:857
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Atelosteogenesis Type Ii
Protuberant abdomen ORPHA:56304
Dyggve-Melchior-Clausen Disease
Protuberant abdomen ORPHA:239
Neu-Laxova Syndrome 2
Protuberant abdomen OMIM:616038
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Recurrent skin infections, Eczema, Hypospadias, Unilateral renal ag... OMIM:308205
Cerebrocostomandibular Syndrome
Gastroesophageal reflux, Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Micro... ORPHA:1596
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Gastroesophageal reflux, Facial palsy OMIM:300373
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Feeding difficulties ORPHA:1393
C Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Constip... ORPHA:1308
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Feedin... ORPHA:709
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Cryptorchidism, Long penis, Biliary tract abnormality, Horseshoe k... OMIM:268300
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Cryptorchidism, R... OMIM:107480
Robinow Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Webbed penis, Micropenis, Hydronephrosis ORPHA:97360
Femoral-Facial Syndrome
Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Gastroesophageal ref... OMIM:134780
Branchiooculofacial Syndrome
Hypospadias, Facial palsy, Supernumerary nipple, Renal agenesis, Cryptorchidism, Renal cyst, Gast... OMIM:113620
Roberts Syndrome
Cryptorchidism, Long penis, Polycystic kidney dysplasia ORPHA:3103
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Feeding difficulties in infancy, Renal cortical cysts OMIM:618548
Weill-Marchesani Syndrome 2
Protuberant abdomen OMIM:608328
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Feeding diff... ORPHA:199
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
Mowat-Wilson Syndrome
Urinary incontinence, Asplenia, Gastrointestinal dysmotility, Vomiting, Vesicoureteral reflux, We... ORPHA:2152
Blomstrand Lethal Chondrodysplasia
Protuberant abdomen ORPHA:50945
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Proteinuria, Elevated circulating growth hormone con... ORPHA:79318
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Bowel incontinence, Aganglionic ... ORPHA:261537
Pyknoachondrogenesis
Abdominal distention ORPHA:3003
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Renal hypoplasia,... ORPHA:2052
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Protuberant abdomen OMIM:618019
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, R... ORPHA:261552
Genitopatellar Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Feeding difficulties, Dysphagia, Micropenis, Hydron... OMIM:606170
Ulbright-Hodes Syndrome
Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Pallister-Killian Syndrome
Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Feeding difficulties, Stillbirth, ... OMIM:601803
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... OMIM:164210
Joubert Syndrome
Feeding difficulties in infancy, Aganglionic megacolon ORPHA:475

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Arl3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Arl3.

No publications found that use IMPC mice or data for Arl3.

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MGI Allele Allele Type Produced
Arl3tm367343(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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