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Gene: Grb10 MGI:103232

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Gene Summary

Name:
growth factor receptor bound protein 10
Synonyms:
5730571D09Rik,  maternally expressed gene 1,  Meg1

Order Alleles

IMPC Data Collections

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.

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Viewing: all phenotypes

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 Grb10 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 associated to Grb10 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Failure to thrive, D... ORPHA:96182

The table below shows human diseases predicted to be associated to Grb10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Placental Insufficiency
Abnormal placenta morphology, Small placenta, Proportionate short stature, Abnormal umbilical cor... ORPHA:439167
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Spermatogenic Failure, X-Linked, 1
Obesity, Sertoli cell-only phenotype OMIM:305700
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Small placenta, Severe postnatal growth retardation, Severe intraut... ORPHA:73272
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Fetal pericardial effusion, Fetal pleural effusion... OMIM:619462
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Small placenta, Intrauterine growth retardation, Oligohydramnios, S... ORPHA:397590
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Distal lower limb muscle weakness, Fasting hypoglycemia, Obesity, Fatty replacement of skeletal m... ORPHA:171706
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large for gestational age, Large placenta, Polyhydramnios, Umbilica... ORPHA:254534
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Recurrent respiratory infections, Hepatomegaly ORPHA:2432
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Death in infancy ORPHA:139406
Galactosemia Iv
Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Trichohepatoenteric Syndrome 1
Large placenta, Polyhydramnios, Jaundice, Cirrhosis, Hepatomegaly, Cholestasis, Abnormalities of ... OMIM:222470
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus OMIM:608320
Greenberg Dysplasia
Abnormal lung lobation, Stillbirth, Large placenta, Hydrops fetalis, Polyhydramnios, Hepatomegaly... OMIM:215140
Obesity And Hypopigmentation
Hepatic steatosis, Obesity, Hyperinsulinemia, Overgrowth OMIM:620195
Congenital Syphilis
Large placenta, Hydrops fetalis, Pancreatitis, Prolonged neonatal jaundice, Premature birth, Hepa... ORPHA:499009
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Glucose intolerance, Hy... ORPHA:552
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, T... ORPHA:3347
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset ... ORPHA:324575
Pancreatic Agenesis 2
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, ... OMIM:615935
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Hepatomegaly, Abnormality of the liver ORPHA:1980
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Recurrent lower respiratory tract infections, Recurrent respiratory infections, Recurren... OMIM:300209
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Obesity, Type II diabetes mellitus ORPHA:71529
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Large placenta, Polyhydramnios, Umbilical hernia ORPHA:254528
Mosaic Trisomy 16
Single umbilical artery, Large placenta, Maternal diabetes, Abnormal lung morphology, Premature b... ORPHA:1708
Congenital Respiratory-Biliary Fistula
Abnormality of the liver, Tracheal stenosis ORPHA:2040
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to g... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to g... ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemia, Maternal diabet... ORPHA:276580
Mulibrey Nanism
Intrauterine growth retardation, Hepatomegaly ORPHA:2576
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, Z-band streaming, EMG: myopathic abnor... OMIM:619178
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Death in i... OMIM:614876
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia OMIM:601612
Tracheal Agenesis
Polyhydramnios, Tracheal atresia, Aplasia/Hypoplasia of the lungs ORPHA:3346
Meconium Aspiration Syndrome
Pneumothorax, Fetal distress, Atelectasis, Maternal diabetes, Meconium stained amniotic fluid, As... ORPHA:70588
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Exocrine pancreatic insufficiency, ... OMIM:260370
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea... ORPHA:276575
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Abnormality of the amniotic fluid, Death in infancy, Nonimmune hydrops fetalis, Spl... OMIM:608540
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Hepatic steatosis, Type II diabetes mellitus OMIM:615703
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated... OMIM:615158
Kagami-Ogata Syndrome
Hepatoblastoma, Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Meckel Syndrome, Type 1
Single umbilical artery, Occipital encephalocele, Large placenta, Breech presentation, Anencephal... OMIM:249000
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Emphysema, Hepatomegaly, Bronchitis, Hepatocellular carcinoma, Cholestasis, ... ORPHA:60
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Overgrowth, Diastasis recti, Cryptorchidism... OMIM:130650
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Hepatic Veno-Occlusive Disease
Jaundice, Increased body weight, Hepatomegaly ORPHA:890
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly, Death in infancy OMIM:620151
Immunodeficiency 61
Obesity, Recurrent sinusitis, Recurrent respiratory infections OMIM:300310
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Hydrops fetalis, Ascites, Death in infancy, Hepatic artery hyperplasia, Portal vein... OMIM:619433
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pleural effusi... OMIM:612387
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal s... ORPHA:2470
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Insulin resistance, Skeletal muscle atrophy, Abdominal obesity, Diabetes mell... OMIM:615980
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Pulmonary sequestration, Abnormal lung morphology, Premature birth, Right... ORPHA:70589
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Glycogen Storage Disease Vi
Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased he... OMIM:232700
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperpla... ORPHA:276556
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Emphysema, Portal hypertension, Hepatic failure OMIM:210050
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatic cysts, Hepatomegaly OMIM:617004
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Large placenta, Polyhydramnios, Enlarged kidney, Abnormal pancreas morp... ORPHA:116
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Leptin Deficiency Or Dysfunction
Decreased testicular size, Obesity, Recurrent pneumonia, Recurrent upper respiratory tract infect... OMIM:614962
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large placenta, Polyhydramnios, Hepatomegaly, Miscarriage, Pulmonary artery stenosis, Premature b... ORPHA:96334
Restrictive Dermopathy 1
Stillbirth, Short umbilical cord, Polyhydramnios, Neonatal death, Premature birth, Pulmonary hypo... OMIM:275210
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Limb muscle weakness, Cryptorchidism, ... ORPHA:486815
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Polyhydramnios, Small placenta, Increased nuchal translucency, Premature bi... OMIM:208150
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries OMIM:184700
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Focal pan... ORPHA:79644
Restrictive Dermopathy
Short umbilical cord, Large placenta, Polyhydramnios, Small placenta, Premature birth, Premature ... ORPHA:1662
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Type II diabetes mellitus, Goiter, Diabetes mellitus, Small for gestationa... OMIM:274300
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Obesity, Recurre... OMIM:614963
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splen... OMIM:214900
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections, Trache... ORPHA:3348
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Hypoketotic hyp... ORPHA:263455
Hyperbilirubinemia, Shunt, Primary
Jaundice, Splenomegaly, Hepatomegaly OMIM:237800
Insulinoma
Hyperinsulinemia, Increased body weight, Primary hyperparathyroidism, Pituitary prolactin cell ad... ORPHA:97279
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619232
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Stillbirth, Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Pulmona... OMIM:615415
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Cholangitis, Cholelithiasis, Sclerosing cholangitis, Live... ORPHA:69663
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Diabetes mellitus, Hepatic stea... ORPHA:79084
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Premature birth, Atelectasis OMIM:267450
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Obesity, Distal lower limb muscle weakness ORPHA:459033
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hepatomegaly, Hyperechogenic pancreas, Aplasia/Hypoplasia o... ORPHA:456312
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H... OMIM:613313
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus OMIM:615981
Pleural Mesothelioma
Abnormal lung morphology, Hepatomegaly, Pleural effusion, Abnormal pleura morphology ORPHA:50251
Fetal Gaucher Disease
Stillbirth, Hydrops fetalis, Hepatomegaly, Death in infancy, Neonatal death, Splenomegaly, Abnorm... ORPHA:85212
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Insulin-Resistance Syndrome Type B
Increased body weight, Biliary cirrhosis, Fasting hyperinsulinemia, Postprandial hyperglycemia, H... ORPHA:2298
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Tracheoesophageal fistula, Tracheal ste... ORPHA:93941
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Obesity, Diabetes mellitus, Cryptorchidism OMIM:610628
Cyanosis, Transient Neonatal
Jaundice, Hepatomegaly OMIM:613977
Temple Syndrome
Maturity-onset diabetes of the young, Cryptorchidism, Decreased testicular size, Obesity, Flexion... OMIM:616222
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Macronodular adrenal hyperplasia, Increased body weight, Hyperglycemia OMIM:615954
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Umbilical hernia, Recurrent respiratory infections, Tracheal stenosis OMIM:607015
Temple Syndrome
Decreased response to growth hormone stimulation test, Obesity, Type II diabetes mellitus, Recurr... ORPHA:254516
Immunodeficiency 48
Pneumonia, Recurrent respiratory infections, Hepatomegaly, Splenomegaly OMIM:269840
Congenital Myopathy 9A
Obesity, Cryptorchidism, EMG: myopathic abnormalities OMIM:618822
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Increased body weight, Recurrent hypoglycemia ORPHA:94086
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Polyhydramnios, Hepatomegaly, Ascites, Premature birth ORPHA:2123
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia OMIM:617885
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ... OMIM:610921
Vacterl/Vater Association
Occipital encephalocele, Single umbilical artery, Polyhydramnios, Abnormality of the gallbladder,... ORPHA:887
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Reduced circulating prolactin concentration OMIM:300888
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75234
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance, Hepa... OMIM:606069
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Overgrowth, Pulmonary cyst OMIM:618272
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Myotubular Myopathy With Abnormal Genital Development
Polyhydramnios, Atelectasis, Death in infancy, Neonatal death, Decreased fetal movement OMIM:300219
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Polyhydramnios, Hepatomegaly, Splenomegaly, Oligohydramnios ORPHA:163596
Wilson Disease
Cirrhosis, Hepatomegaly, Jaundice, Acute hepatitis, Increased body weight, Hepatitis, Failure to ... ORPHA:905
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased body weight, Increased body mass index OMIM:614450
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Hepatomegaly, Cirrhosis, Fasting hypoglycemia, Ketotic hypoglycemia, Incr... ORPHA:79240
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Premature birth, Respiratory tract infection, Pneumonia ORPHA:70587
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal peritoneum morphology, Abnormal pleura morphology, Pneum... ORPHA:2357
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Increased body weight, Recurrent upper respiratory tract infections ORPHA:589905
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Death in childhood, Hepatomegaly, Hepatocellular carcinoma, ... OMIM:601847
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Insulin resistance, Diabetes mellitus, Hepatic st... OMIM:612526
Immunodeficiency 54
Hepatomegaly, Caesarian section, Splenomegaly, Intrauterine growth retardation, Recurrent respira... OMIM:609981
Neu-Laxova Syndrome 1
Short umbilical cord, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifida, Decreased fe... OMIM:256520
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Hepatomegaly, Pleural effusion, Ascites, Splenomegaly ORPHA:2414
Acute Interstitial Pneumonia
Atelectasis, Pleural effusion, Bronchiectasis, Interlobular septal thickening, Pulmonary fibrosis... ORPHA:79126
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Cryptorchidism, Recurrent respiratory infections OMIM:615633
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Impaired glucose tolerance, Obesity, Splenomegaly, Hepatic fibrosis, G... OMIM:615630
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Portal hypertension, Biliary tract abnormality, Splenomegaly, ... ORPHA:1414
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly OMIM:603902
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased testicular size, Eunuchoid habitus, Obesity, Type II diabetes mellitus ORPHA:2234
C1Q Deficiency 2
Bronchiectasis, Atelectasis, Recurrent lower respiratory tract infections OMIM:620321
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice OMIM:243300
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Decreased fetal movement, Recurrent respiratory infections, Lymphocyt... OMIM:618495
Immunodeficiency 42
Hepatomegaly, Splenomegaly OMIM:616622
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly OMIM:605479
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Interlobular septal ... ORPHA:2302
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Abno... ORPHA:169189
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev... OMIM:619662
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, EMG: myopathic abnormalities, Obesity, Achilles tendon contracture, Ske... OMIM:615418
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Cholelithiasis, Nonimmune hydrops fetalis, Splenomegaly, Intrauterine gro... OMIM:266200
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis... OMIM:208540
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Periportal fibrosis, Portal hypertension, Death in infancy, Elevated cir... OMIM:278000
Immunodeficiency, Common Variable, 1
Hepatomegaly, Recurrent bronchitis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis, Spl... OMIM:607594
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections ORPHA:922
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Eleva... OMIM:616860
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular size, O... ORPHA:66628
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Geleophysic Dysplasia 3
Polyhydramnios, Hepatomegaly, Premature birth, Pneumonia, Tracheal stenosis OMIM:617809
Infantile Liver Failure Syndrome 3
Death in childhood, Elevated circulating hepatic transaminase concentration, Jaundice, Hepatomega... OMIM:618641
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fasting hypogly... OMIM:613027
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis OMIM:604571
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular size, O... ORPHA:179494
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Hepatomegaly, Portal fibrosis, Cirrhosis, Fasting hypoglycemia, Increased... ORPHA:264580
Fraser Syndrome 3
Abnormal lung lobation, Stillbirth, Sonographic non-visualized fetal bladder, Ascites, Nonimmune ... OMIM:617667
Proprotein Convertase 1/3 Deficiency
Obesity, Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Microcephaly 30, Primary, Autosomal Recessive
Intrauterine growth retardation, Fetal distress, Tracheal stenosis, Increased nuchal translucency OMIM:620183
Meckel Syndrome, Type 3
Occipital encephalocele, Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of... OMIM:607361
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Pancreatic cysts, Portal hypertension, Neonat... OMIM:263200
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98853
Senior-Loken Syndrome 9
Obesity, Cholestasis, Hepatic fibrosis, Chronic bronchitis OMIM:616629
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Glycosuria, Hypoglycemia, Diabetes mellitus OMIM:616026
Jung Syndrome
Recurrent respiratory infections, Tracheal stenosis ORPHA:2321
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Jaundice, Hepatomegaly ORPHA:234
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Hepatomegaly, Atelectasis, Recurrent lower respirator... OMIM:620233
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascit... ORPHA:131
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani... OMIM:618528
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Hyperglycemia, Flexion contracture,... OMIM:609069
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Polyhydramnios, Hepatomegaly, Premature birth, Splenomegaly, Intrauterine growth retardation OMIM:618541
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Cirrhosis, Polyhydramnios, Elevated circulating hepatic transaminase co... ORPHA:367
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Asplenia, Respiratory tract infection, Recurrent sinopulmo... ORPHA:244
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent pneumonia, Atelectasis, Recurrent upper respiratory tract inf... ORPHA:60032
Fanconi Renotubular Syndrome 5
Glycosuria, Lung adenocarcinoma, Emphysema, Pulmonary fibrosis OMIM:618913
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema ORPHA:1164
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent bronchopulmonary infections, Recurrent pneumonia, Hepatosplenomegaly, Bronch... OMIM:242700
Keutel Syndrome
Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent sinusitis, Tracheal atresia ORPHA:85202
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections OMIM:620296
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Recurrent respiratory infections, Polyhydramnios, Death in infancy ORPHA:1790
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity OMIM:603233
Farber Disease
Hydrops fetalis, Elevated circulating hepatic transaminase concentration, Atelectasis, Intrahepat... ORPHA:333
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Increased body weight OMIM:615830
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall... OMIM:615710
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Atelectasis, Anencephaly, Hepatomegaly, Periportal fibrosis, Ascites, Neonatal de... OMIM:269860
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo... OMIM:610978
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Emphysema, Portal hypertension, Pulmonary fibrosis OMIM:620365
Interstitial Lung And Liver Disease
Abnormal pulmonary interstitial morphology, Cirrhosis, Hepatomegaly, Intraalveolar phospholipid a... OMIM:615486
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Emphysema, Pleural effusion, Ascites, Splenomegaly ORPHA:36412
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism OMIM:601794
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Breech presentation, Emphysema, Atelectasis, Accessory spleen, Ascites, Death... OMIM:613177
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Yellow Fever
Jaundice, Acute pancreatitis, Pancreatic hyperplasia ORPHA:99829
Tetraamelia-Multiple Malformations Syndrome
Abnormal lung lobation, Polyhydramnios, Aplasia/Hypoplasia of the lungs, Tracheal stenosis ORPHA:3301
Niemann-Pick Disease, Type C2
Polyhydramnios, Death in childhood, Jaundice, Hepatomegaly, Death in infancy, Prolonged neonatal ... OMIM:607625
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Atelectasis, Hepatomegaly, Microvesicular hepatic steatosis, Hepatocellular n... OMIM:618278
Dysbetalipoproteinemia
Tendon xanthomatosis, Hepatomegaly, Acute pancreatitis, Obesity, Diabetes mellitus, Hepatic steat... ORPHA:412
Idiopathic Chronic Eosinophilic Pneumonia
Pleural effusion, Hypersensitivity pneumonitis, Atelectasis ORPHA:2902
Ciliary Dyskinesia, Primary, 1
Atelectasis, Recurrent bronchitis, Asplenia, Bronchiectasis, Pneumonia OMIM:244400
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Obesity, Pituitary adenoma, Skeletal muscle atrophy, Abdominal obesit... OMIM:219090
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Pancreatic hypoplasia, Glycosuria, Failure to thrive, Reduced pancr... ORPHA:99885
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hypoketotic hypoglycemia, Exercise-induced rhabdomyolysis, Obesity, Pneum... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatomegaly, Cholestasis, Biliary cirrhosis, Hypoglycemia, Ele... OMIM:620454
Common Variable Immunodeficiency
Emphysema, Elevated circulating hepatic transaminase concentration, Recurrent bronchitis, Bronchi... ORPHA:1572
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Hyperglycemia, Truncal obesity, Type II diabetes mellitus OMIM:615812
Klatskin Tumor
Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Hepatomegaly ORPHA:99978
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Aromatase Deficiency
Tall stature, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Eunuchoid habitus, Obesi... ORPHA:91
Granulomatosis With Polyangiitis
Pleuritis, Localized pulmonary hemorrhage, Elevated bronchoalveolar lavage fluid neutrophil propo... OMIM:608710
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Macronodular adrenal hyperplasia, Increased body weight, Primary hyperparathyroidism, Proximal am... ORPHA:189427
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Pulmonary pneumatocele, Hepatomegaly, Neonatal omphalitis, Intraalveolar phospholipid accumulatio... OMIM:620565
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Adrenocortical Carcinoma
Increased body weight, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Weight loss, ... ORPHA:1501
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Atelectasis, Liver abscess, Pleural effusion, Ascites, Recurrent pneumonia, Splenom... OMIM:306400
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Tracheoesophageal fistula, Splenomegaly, Recurrent respiratory infec... ORPHA:379
Hydrolethalus
Polyhydramnios, Premature birth, Anencephaly, Tracheal atresia ORPHA:2189
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Obesity, Cholesterol gall... ORPHA:209902
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis OMIM:601427
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Congenital Tracheomalacia
Pneumothorax, Emphysema, Cardiomegaly, Tracheoesophageal fistula, Bronchiectasis, Premature birth... ORPHA:95430
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly OMIM:612291
Pendred Syndrome
Tracheal stenosis ORPHA:705
Sotos Syndrome
Neonatal hypoglycemia, Tall stature, Increased body weight, Overgrowth, Cryptorchidism, Prolonged... OMIM:117550
Perlman Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of the abdominal wall musc... OMIM:267000
Hypophosphatasia
Emphysema ORPHA:436
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity, Streak ovary, Cryptorchidism OMIM:194072
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatosplenomegaly, Tracheal stenosis ORPHA:93352
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Prolon... ORPHA:99832
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Small for gestational age, Pancreatic aplasia, Neonatal insulin-dependent dia... ORPHA:556955
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Intrauterine growth retardation, Recurrent respiratory infections, Tracheal stenosis ORPHA:2637
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail... ORPHA:171
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Decreased testicular size, Failure to thrive, Type ... ORPHA:398069
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis OMIM:194380
Dextrocardia
Abnormal lung lobation, Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormal pulmonary... ORPHA:1666
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Abnormal pulmonary interstitial morphology, Cirrhosis, Elevated circula... OMIM:613658
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Anterior pituitary agenesis, Biliary atresia, Pancreatic hypopla... ORPHA:2255
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Sclerosing cholangitis, Tracheal stenosis ORPHA:64744
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrops fetalis, Atelectasis, Pancreatitis, Hydranencephaly, Splenic cyst, Pulmonary artery atres... OMIM:620371
Lymphangioleiomyomatosis
Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Ascites, Pul... ORPHA:538
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis ORPHA:2314
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Flexion contracture of toe, ... OMIM:602782
Brachytelephalangic Chondrodysplasia Punctata
Pulmonary artery stenosis, Recurrent respiratory infections, Tracheal stenosis ORPHA:79345
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla OMIM:619632
Cartilage-Hair Hypoplasia
Spinal dysraphism, Hepatomegaly, Abnormality of the pancreas, Tracheal stenosis ORPHA:175
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnor... ORPHA:93111
Overhydrated Hereditary Stomatocytosis
Prolonged neonatal jaundice, Jaundice, Splenomegaly, Hepatomegaly OMIM:185000
Chondrodysplasia Punctata 2, X-Linked Dominant
Polyhydramnios, Tracheal stenosis OMIM:302960
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Premature birth, Right ventricular hypertrophy, Cardiomegaly, Anomalous pulmonary v... ORPHA:555874
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Oligohydramnios, Umbilical hernia, Recurrent respiratory infections, Peripheral pulmon... OMIM:219100
Netherton Syndrome
Recurrent respiratory infections, Emphysema ORPHA:634
17Q12 Microdeletion Syndrome
Diabetes mellitus, Pancreatic aplasia, Cryptorchidism ORPHA:261265
Zygomycosis
Pneumothorax, Atelectasis, Pancreatitis, Acute infectious pneumonia, Splenic abscess, Pleural eff... ORPHA:73263
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Biliary atresia, Pancreatic hypoplasia, Aplasia of the left hemi... OMIM:600001
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Impaired glucose tolerance, Glycosur... OMIM:137920
Hydrolethalus Syndrome 1
Abnormal lung lobation, Stillbirth, Polyhydramnios, Anencephaly, Accessory spleen, Intrauterine g... OMIM:236680
Meier-Gorlin Syndrome 4
Intrauterine growth retardation, Emphysema OMIM:613804
Craniofacioskeletal Syndrome
Absent gallbladder, Intrauterine growth retardation, Tracheal stenosis OMIM:300712
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Fulminant hepatitis, Atelectasis ORPHA:319213
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Polyhydramnios, Abnormality of the gallbladder, Increased nuchal transluc... ORPHA:818
Whim Syndrome
Atelectasis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infection, Recurrent upper re... ORPHA:51636
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pleural effusion, Elevated b... OMIM:181000
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis OMIM:217980
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Pancreatic aplasia, Exocrine pancreatic insufficiency, Absent gallbladder, Type I diabetes mellit... OMIM:618500
Geleophysic Dysplasia 1
Hepatomegaly, Laryngotracheal stenosis, Tracheal stenosis OMIM:231050
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Atelectasis, Elevated circulating alanine aminotransferase concentration, Respirato... ORPHA:365
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia, Atelectasis, Oligohydramnios, Repeated pneumothoraces ORPHA:536467
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Recurrent bronchopulmonary infections, ... OMIM:219700
Ciliary Dyskinesia, Primary, 20
Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis,... OMIM:615067
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Polyhydramnios, Atelectasis, Cholelithiasis, Meningocele, Spina bifida, S... ORPHA:567
Cushing Disease
Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pituitary corticotropic c... ORPHA:96253
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections ORPHA:258
Hellp Syndrome
Pulmonary edema, Increased body weight, Pleural effusion ORPHA:244242
Shwachman-Diamond Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Pancreatic hypoplasia, Failu... ORPHA:811
Larsen Syndrome
Intrauterine growth retardation, Spina bifida occulta, Tracheal stenosis OMIM:150250
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Tracheal stenosis ORPHA:163979
Meier-Gorlin Syndrome 1
Intrauterine growth retardation, Emphysema, Breech presentation, Death in infancy OMIM:224690
Nocardiosis
Pneumothorax, Liver abscess, Emphysema, Pleuritis, Pleural effusion, Peritonitis, Pneumonia ORPHA:31204
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Spontaneous pneumothorax, Recu... OMIM:130050
Sarcoidosis
Pneumothorax, Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Emphy... ORPHA:797
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the pulmonary artery, Emphysema, Abnormal intrahepatic bile duct morphology ORPHA:363618
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Emphysema, Recurrent pneumonia, Intrauterine growth retardation, Peripheral pulmona... ORPHA:90349
Loeys-Dietz Syndrome 4
Pneumothorax, Emphysema OMIM:614816
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Emphysema, Umbilical hernia OMIM:616835
Oculocerebrorenal Syndrome Of Lowe
Umbilical hernia, Recurrent respiratory infections, Atelectasis, Death in infancy ORPHA:534
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Failure to thrive, Pulm... ORPHA:83617
Fraser Syndrome
Abnormal lung lobation, Encephalocele, Myelomeningocele, Death in infancy, Pulmonary hypoplasia, ... ORPHA:2052
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Death in childhood, Emphysema, Spina bifida, Neonatal death, Pulmonary... OMIM:614437
Ellis Van Creveld Syndrome
Intrauterine growth retardation, Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Pheochromocytoma, Increased body weight, Impaired glucose tolerance, A... ORPHA:99889
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia OMIM:619708
Liver Disease, Severe Congenital
Pulmonary edema, Hepatomegaly, Jaundice, Cardiomegaly, Intrahepatic cholestasis, Increased hepati... OMIM:619991
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema OMIM:123700
Frontometaphyseal Dysplasia 2
Tracheal stenosis OMIM:617137
Relapsing Polychondritis
Atelectasis, Hepatitis ORPHA:728
Digeorge Syndrome
Atelectasis, Cholelithiasis, Recurrent pneumonia, Recurrent sinusitis, Splenomegaly, Umbilical he... OMIM:188400
Carney Complex
Ductal carcinoma in situ, Tall stature, Neoplasm of the pancreas, Testicular neoplasm, Ovarian de... ORPHA:1359
Keutel Syndrome
Emphysema, Recurrent bronchitis, Miscarriage, Pulmonary artery hypoplasia, Peripheral pulmonary a... OMIM:245150
Autosomal Dominant Cutis Laxa
Emphysema, Bronchiolitis, Bronchiectasis, Peripheral pulmonary artery stenosis, Intrauterine grow... ORPHA:90348
Chand Syndrome
Atelectasis ORPHA:1401
Fabry Disease
Emphysema, Left ventricular hypertrophy ORPHA:324
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Fetal distress, Emphysema, Unilateral lung agenesis, Absent gallbladder, Intrauterine growth reta... ORPHA:500150
Neonatal Marfan Syndrome
Emphysema ORPHA:284979
Marfan Syndrome
Pneumothorax, Pulmonary artery dilatation, Emphysema OMIM:154700
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax, Meningocele ORPHA:558
Proteus Syndrome
Abnormal lung lobation, Bronchogenic cyst, Enlarged kidney, Sirenomelia, Pulmonary bulla, Neoplas... ORPHA:744
Viss Syndrome
Pneumothorax, Fetal distress, Pulmonary artery aneurysm, Polyhydramnios, Emphysema, Right ventric... OMIM:619472
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormality of the pulmonary artery, Tracheal stenosis, Pulmonary artery sling, Asplenia ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormality of the pulmonary artery, Tracheal stenosis, Pulmonary artery sling, Asplenia ORPHA:261552
Mowat-Wilson Syndrome
Tracheal stenosis, Pulmonary artery sling, Asplenia ORPHA:2152
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Failure to thrive, D... ORPHA:96182
Sotos Syndrome
Neonatal hypoglycemia, Small cell lung carcinoma, Prolonged neonatal jaundice, Pulmonary bleb, Um... ORPHA:821

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 Grb10

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 Grb10.

No publications found that use IMPC mice or data for Grb10.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Grb10em1(IMPC)H Indel Mice
Grb10tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Grb10tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Grb10tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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