Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 muscle mass, Small for gestational age, Decreased response to growth hormone stimulatio... 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 umbilical cord blood vessel morphology, Small for gestational age, Proportionate short s... ORPHA:439167
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Short stature, Postnatal growth retardation, Truncal obesity, Severe p... ORPHA:73272
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... OMIM:619462
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Obesity, Proximal muscle weakness in lower limbs, Fasting h... ORPHA:171706
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Postnatal growth retardation, Small placenta, Intrauterine growth reta... ORPHA:397590
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Polyhydramnios, Large for gestational age, Postnatal growth retardatio... ORPHA:254534
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Death in infancy ORPHA:139406
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Large for gestational age, Hepatomegaly ORPHA:2432
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Trichohepatoenteric Syndrome 1
Hepatomegaly, Polyhydramnios, Large placenta, Abnormality of the pancreas, Abnormalities of place... OMIM:222470
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Greenberg Dysplasia
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... OMIM:215140
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Overgrowth, Obesity OMIM:620195
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:605911
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Incre... ORPHA:293964
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... ORPHA:324575
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Abnormality of the liver, Hepatomegaly ORPHA:1980
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Large placenta, Polyhydramnios, Intrauterine growth retardation ORPHA:254528
Mosaic Trisomy 16
Premature birth, Maternal diabetes, Large placenta, Abnormal lung morphology, Single umbilical ar... ORPHA:1708
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent respiratory infections, Recurrent lower respiratory tract infections, Recurrent upper r... OMIM:300209
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Cholesta... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Cholesta... ORPHA:71526
Mulibrey Nanism
Intrauterine growth retardation, Hepatomegaly ORPHA:2576
Mounier-Kühn Syndrome
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... ORPHA:3347
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Jaundice, Elevated circulating aspartate aminotransferase concentration, Hepato... OMIM:614876
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly ORPHA:46532
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... OMIM:260370
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypogly... ORPHA:276575
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Obesity OMIM:615703
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Splenomegaly, Abnormality of the amnio... OMIM:608540
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, Br... OMIM:249000
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Kagami-Ogata Syndrome
Hepatoblastoma, Large placenta, Premature birth, Polyhydramnios ORPHA:254519
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Congenital Respiratory-Biliary Fistula
Tracheal stenosis, Abnormality of the liver ORPHA:2040
Meconium Aspiration Syndrome
Fetal distress, Maternal diabetes, Atelectasis, Pneumothorax, Postterm pregnancy, Premature ruptu... ORPHA:70588
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased body weight ORPHA:890
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidism, Pancreatic hy... OMIM:130650
Summitt Syndrome
Obesity OMIM:272350
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Lower limb muscle weakness, Insulin resistance, Myopa... OMIM:615980
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Aplasia/Hypoplasia of the lungs ORPHA:2204
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia OMIM:232700
Beckwith-Wiedemann Syndrome
Hepatomegaly, Premature birth, Hypoglycemia, Polyhydramnios, Cardiomegaly, Large placenta, Spleno... ORPHA:116
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Immunodeficiency 48
Splenomegaly, Recurrent respiratory infections, Pneumonia, Hepatomegaly OMIM:269840
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... ORPHA:2470
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Premature birth, Miscarriage, Polyhydramnios, Large placenta, Pulmonary artery sten... ORPHA:96334
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia OMIM:601612
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Polyhydramnios ORPHA:3346
Cardiomyopathy, Familial Restrictive, 6
Death in infancy, Hepatomegaly, Hydrops fetalis, Ascites, Portal vein hypoplasia OMIM:619433
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... OMIM:275210
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Leptin Deficiency Or Dysfunction
Decreased testicular size, Recurrent upper respiratory tract infections, Obesity, Recurrent pneum... OMIM:614962
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl... ORPHA:486815
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... ORPHA:1662
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Leptin Receptor Deficiency
Diabetes mellitus, Decreased response to growth hormone stimulation test, Recurrent upper respira... OMIM:614963
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Bronchopulmonary Dysplasia
Premature birth, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema, Right... ORPHA:70589
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pan... ORPHA:263455
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Diabetes mellitus, Small for gestational age, Increased body weight, Type II diabetes mellitus, G... OMIM:274300
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice OMIM:237800
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... ORPHA:97279
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahepatic cholestasis, Obesity, Bil... ORPHA:69663
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest... OMIM:615415
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis OMIM:613313
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Foot joint contracture, Facial palsy, Achilles tendon contractur... ORPHA:456312
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Fetal Gaucher Disease
Decreased fetal movement, Death in infancy, Hepatomegaly, Fetal akinesia sequence, Abnormality of... ORPHA:85212
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphol... OMIM:612387
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Cholestasis ORPHA:570422
Bardet-Biedl Syndrome 2
Diabetes mellitus, Obesity OMIM:615981
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Premature birth, Pulmonary edema OMIM:267450
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Obesity, Muscular dystrophy ORPHA:459033
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Macronodular adrenal hyperplasia, Increased body weight, Hyperglycemia OMIM:615954
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Premature birth, Polyhydramnios, Hydrops fetalis, Ascites ORPHA:2123
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity OMIM:617885
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio ORPHA:94086
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Overweight, Cryptorchidism, Flex... OMIM:616222
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Reduced circulating prolactin concentration OMIM:300888
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Trache... ORPHA:3348
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Diabetes mellitus, Obesity OMIM:610628
Congenital Myopathy 9A
Cryptorchidism, EMG: myopathic abnormalities, Obesity OMIM:618822
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Oligohydramnios ORPHA:163596
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, Weight loss, Proximal mus... ORPHA:905
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Ketotic hypoglycemia, Splenomegaly, Limb-girdle muscle wea... ORPHA:79240
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Pulmonary cyst, Overgrowth, Enlarged kidney, Large for gestational age OMIM:618272
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Intrahepatic cholestasis, Intermittent jaun... OMIM:601847
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased body mass index, Increased body weight OMIM:614450
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st... OMIM:612526
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Immunodeficiency 54
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Ca... OMIM:609981
Neu-Laxova Syndrome 1
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Short umbilical ... OMIM:256520
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Hepatomegaly OMIM:603902
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Recurrent upper respiratory tract infections, Increased body weight ORPHA:589905
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Immunodeficiency 42
Splenomegaly, Hepatomegaly OMIM:616622
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Myotubular Myopathy With Abnormal Genital Development
Decreased fetal movement, Death in infancy, Polyhydramnios, Atelectasis, Neonatal death OMIM:300219
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Type II diabetes mellitus, Obesity, Decreased testicular size ORPHA:2234
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fi... ORPHA:93941
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... OMIM:616860
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Intrauterine grow... OMIM:266200
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Cholesteryl Ester Storage Disease
Acute hepatic failure, Death in infancy, Hepatomegaly, Elevated circulating aspartate aminotransf... OMIM:278000
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... OMIM:613027
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased fetal movement, Recurrent respiratory infections, Hepatomegaly, Lymphocytic interstitia... OMIM:618495
Infant Acute Respiratory Distress Syndrome
Premature birth, Pneumonia, Respiratory tract infection, Atelectasis, Pulmonary edema ORPHA:70587
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Large for gestational age, Centrally nucleated skeletal ... ORPHA:169189
Hurler-Scheie Syndrome
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Tracheal stenosis, Umbilical hernia OMIM:607015
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Gluco... OMIM:235200
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... ORPHA:2357
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Hand muscle weakness, Fatty replacement of... ORPHA:98908
Vacterl/Vater Association
Occipital encephalocele, Premature birth, Polyhydramnios, Abnormality of the pancreas, Abnormalit... ORPHA:887
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pleural effusion, Ascites ORPHA:2414
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Recurrent upper respiratory tract infections, Pituitary hypo... ORPHA:66628
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Increased sarcoplasmic glycogen, Splenomegal... ORPHA:264580
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... OMIM:609734
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Meckel Syndrome, Type 3
Occipital encephalocele, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct prolif... OMIM:607361
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98863
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:261
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestational age, Glycosuria OMIM:616026
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Recurrent upper respiratory tract infections, Pituitary hypo... ORPHA:179494
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... OMIM:235555
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Premature birth, Polyhydramnios, Splenomegaly, Intrauterine growth retardation OMIM:618541
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Senior-Loken Syndrome 9
Hepatic fibrosis, Obesity, Cholestasis, Chronic bronchitis OMIM:616629
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Poly... ORPHA:367
Pancreatic And Cerebellar Agenesis
Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperglycemia, Pancreati... OMIM:609069
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Premature birth, Portal hypertension, Biliary hyperp... ORPHA:567983
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... OMIM:261680
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Pseudohypoparathyroidism, Type Ib
Obesity, Pseudohypoparathyroidism OMIM:603233
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight OMIM:615830
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Geleophysic Dysplasia 3
Hepatomegaly, Premature birth, Pneumonia, Polyhydramnios, Tracheal stenosis OMIM:617809
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Interstitial pneumonitis, Recurrent upper respiratory tract infections OMIM:620296
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Nodular pattern o... ORPHA:333
Yellow Fever
Pancreatic hyperplasia, Acute pancreatitis, Jaundice ORPHA:99829
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Polyhydramnios, Atelectasis, Splenomegaly, Anencephaly, Periportal fibrosis, Pulmon... OMIM:269860
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Abnormal lung lobation, Stil... OMIM:617667
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Obesity, Glucose intolera... OMIM:219090
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Cholestasi... OMIM:620233
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis, Intrauterine growth retardation, Increased nuchal translucency, Fetal distress OMIM:620183
Niemann-Pick Disease, Type C2
Death in infancy, Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Jaundice, Prolonged ... OMIM:607625
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Tendon xanthomatosis, Obesity, Hepatic steat... ORPHA:412
Jung Syndrome
Tracheal stenosis, Recurrent respiratory infections ORPHA:2321
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... OMIM:251880
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis OMIM:604571
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia OMIM:615812
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... ORPHA:2088
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... OMIM:610978
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Atelectasis, Breech presentation, Recurrent pneumonia, Pulmon... OMIM:613177
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Exercise-induced rhabdomyolysis, Small for gestational age, Pneumonia, Overweight, ... ORPHA:26793
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hepatomegaly, Cardiomegaly, Atelectasis, Microvesicular hepatic... OMIM:618278
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Recurrent respiratory infections, Polyhydramnios, Death in infancy ORPHA:1790
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... ORPHA:99885
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Obesity, Myopathy, Shoulder girdle muscle weakness, Increas... ORPHA:98907
Aromatase Deficiency
Eunuchoid habitus, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Ins... ORPHA:91
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Primary hyperparathyroidism, Increased body weight, Proximal amyotrophy, Gluco... ORPHA:189427
Adrenocortical Carcinoma
Diabetes mellitus, Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, Lu... ORPHA:1501
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis ORPHA:2902
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, E... OMIM:242700
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Keutel Syndrome
Recurrent respiratory infections, Pulmonary artery stenosis, Tracheal atresia, Recurrent sinusitis ORPHA:85202
Perlman Syndrome
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Hypopla... OMIM:267000
Sotos Syndrome
Neonatal hypoglycemia, Cryptorchidism, Increased body weight, Glucose intolerance, Overgrowth, Pr... OMIM:117550
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Tracheal stenosis, Abnormal lung lobation, Polyhydramnios ORPHA:3301
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Emphysema, Pulmonary fibrosis, Portal hypertension OMIM:620365
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Atelectasis, Splenomegaly, Recurrent pneumonia, Pleural effusion, As... OMIM:306400
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Panc... ORPHA:556955
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Cryptorchidism, Flexion contracture, Increased body weight, Abd... ORPHA:398069
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, ... OMIM:610199
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic... ORPHA:2255
Dextrocardia
Abnormality of the spleen, Abnormal lung lobation, Abnormality of abdominal situs, Abnormal pulmo... ORPHA:1666
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Portal hypert... ORPHA:171
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of finger, Decreased response to growth hormone stimulation tes... OMIM:602782
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Elevated bronchoalveolar lavage flui... OMIM:608710
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas... ORPHA:93111
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis OMIM:601427
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Prolonged neonatal jaundice OMIM:185000
Hydrolethalus
Anencephaly, Premature birth, Tracheal atresia, Polyhydramnios ORPHA:2189
Pendred Syndrome
Tracheal stenosis ORPHA:705
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Splenomegaly, Bronchi... ORPHA:1572
17Q12 Microdeletion Syndrome
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia ORPHA:261265
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Premature birth, Cardiomegaly, Anomalous pulmonary venous return, Intrauterine grow... ORPHA:555874
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Diabetes mellitus, Congenital diaphragmatic hernia, Pulmon... OMIM:600001
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Hepatosplenomegaly ORPHA:93352
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections ORPHA:2314
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Tracheal stenosis, Intrauterine growth retardation, Recurrent respiratory infections ORPHA:2637
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Type I diabetes... OMIM:618500
Brachytelephalangic Chondrodysplasia Punctata
Pulmonary artery stenosis, Recurrent respiratory infections, Increased nuchal translucency, Trach... ORPHA:79345
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylothorax, Emphysema, Ascites, Pul... ORPHA:538
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... OMIM:137920
Igg4-Related Thyroid Disease
Retroperitoneal fibrosis, Sclerosing cholangitis, Pancreatic fibrosis, Tracheal stenosis ORPHA:64744
Zygomycosis
Diabetes mellitus, Premature birth, Atelectasis, Peritonitis, Pneumothorax, Hepatitis, Acute infe... ORPHA:73263
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Atelectasis, Fulminant hepatitis ORPHA:319213
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Respiratory tract infection, Atelectasis, Elevated circulating alanin... ORPHA:365
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal stenosis, Polyhydramnios OMIM:302960
Cartilage-Hair Hypoplasia
Tracheal stenosis, Hepatomegaly, Abnormality of the pancreas, Spinal dysraphism ORPHA:175
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces, Oligohydramnios ORPHA:536467
Hydrolethalus Syndrome 1
Accessory spleen, Polyhydramnios, Abnormal lung lobation, Anencephaly, Stillbirth, Tracheal steno... OMIM:236680
Cushing Disease
Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolerance, Pituitary corticotropic cell ... ORPHA:96253
Craniofacioskeletal Syndrome
Tracheal stenosis, Intrauterine growth retardation, Absent gallbladder OMIM:300712
Geleophysic Dysplasia 1
Tracheal stenosis, Hepatomegaly OMIM:231050
Shwachman-Diamond Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Pneumonia, Decreased response to growth hormo... ORPHA:811
Smith-Lemli-Opitz Syndrome
Polyhydramnios, Increased nuchal translucency, Abnormality of the gallbladder, Abnormal lung loba... ORPHA:818
22Q11.2 Deletion Syndrome
Spina bifida, Polyhydramnios, Atelectasis, Splenomegaly, Meningocele, Abnormal lung lobation, Occ... ORPHA:567
Hellp Syndrome
Pleural effusion, Increased body weight, Pulmonary edema ORPHA:244242
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis OMIM:217980
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections ORPHA:258
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Biliary hyperplasia, Cryptorchidism, Contracture of the distal i... ORPHA:83617
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolerance, Pa... ORPHA:99889
Oculocerebrorenal Syndrome Of Lowe
Umbilical hernia, Atelectasis, Recurrent respiratory infections, Death in infancy ORPHA:534
Liver Disease, Severe Congenital
Hepatomegaly, Pneumonia, Cardiomegaly, Biliary hyperplasia, Splenomegaly, Jaundice, Intrahepatic ... OMIM:619991
Larsen Syndrome
Tracheal stenosis, Intrauterine growth retardation, Spina bifida occulta OMIM:150250
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Tracheal stenosis, Absent gallbladder ORPHA:163979
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... ORPHA:1359
Fraser Syndrome
Encephalocele, Death in infancy, Myelomeningocele, Abnormal lung lobation, Pulmonary hypoplasia, ... ORPHA:2052
Relapsing Polychondritis
Atelectasis, Hepatitis ORPHA:728
Digeorge Syndrome
Cholelithiasis, Atelectasis, Splenomegaly, Recurrent pneumonia, Recurrent sinusitis, Umbilical he... OMIM:188400
Frontometaphyseal Dysplasia 2
Tracheal stenosis OMIM:617137
Chand Syndrome
Atelectasis ORPHA:1401
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Small for gestational age, Decreased response to growth hormone stimulatio... ORPHA:96182
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Abnormality of the pulmonary artery, Pulmonary artery sling, Tracheal stenosis ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Abnormality of the pulmonary artery, Pulmonary artery sling, Tracheal stenosis ORPHA:261552
Mowat-Wilson Syndrome
Asplenia, Pulmonary artery sling, Tracheal stenosis ORPHA:2152

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

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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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