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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
Insulin resistance, Failure to thrive, Decreased muscle mass, Decreased response to growth hormon... 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 placenta, Intrauterine growth retardation,... ORPHA:439167
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketot... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... 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
Sertoli cell-only phenotype, Obesity OMIM:305700
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small placenta, Postnatal growth retardation, Intrauterine growth retardation,... ORPHA:73272
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Hepatom... OMIM:619462
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios, S... ORPHA:397590
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Obesity, Distal lower limb muscle weakness, Fatty replac... ORPHA:171706
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
Umbilical hernia, Postnatal growth retardation, Large for gestational age, Large placenta, Polyhy... ORPHA:254534
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age, Recurrent respiratory infections ORPHA:2432
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Death in infancy ORPHA:139406
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice OMIM:618881
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Hepatic failure, Cholestasis, Intrauterine growth retardation, Large placenta, ... OMIM:222470
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus OMIM:608320
Greenberg Dysplasia
Abnormal lung lobation, Hepatosplenomegaly, Large placenta, Increased nuchal translucency, Polyhy... OMIM:215140
Congenital Syphilis
Pneumonia, Hypoglycemia, Hepatosplenomegaly, Large placenta, Intrauterine growth retardation, Pan... ORPHA:499009
Obesity And Hypopigmentation
Overgrowth, Obesity, Hepatic steatosis, Hyperinsulinemia OMIM:620195
Mody
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... ORPHA:552
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Tracheal stenosis, Recurrent bronchopulmonary infections, Recurrent respir... ORPHA:3347
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for gestational age, Hyperinsu... ORPHA:324575
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Small for gestationa... OMIM:615935
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Intrauterine growth retardation, Abnormality of the liver ORPHA:1980
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent lower respiratory tract infections, Obesity, Recurrent upper respiratory tract infectio... OMIM:300209
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... OMIM:613490
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Intrauterine growth retardation, Large placenta, Umbilical hernia ORPHA:254528
Mosaic Trisomy 16
Pulmonary hypoplasia, Intrauterine growth retardation, Large placenta, Maternal diabetes, Single ... ORPHA:1708
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Hyperinsulinemia OMIM:618406
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Obesity, Childhood-onset truncal obesity, Hyperinsulinemia ORPHA:71529
Congenital Respiratory-Biliary Fistula
Tracheal stenosis, Abnormality of the liver ORPHA:2040
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Mulibrey Nanism
Hepatomegaly, Intrauterine growth retardation ORPHA:2576
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276580
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Death in i... OMIM:614876
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Bilateral lung agenesis, Neonatal death OMIM:601612
Tracheal Agenesis
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Tracheal atresia ORPHA:3346
Meconium Aspiration Syndrome
Premature rupture of membranes, Meconium stained amniotic fluid, Atelectasis, Fetal distress, Asp... 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
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Exocrine ... OMIM:260370
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276575
Congenital Disorder Of Glycosylation, Type Ik
Intrauterine growth retardation, Splenomegaly, Death in infancy, Nonimmune hydrops fetalis, Hepat... OMIM:608540
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Kagami-Ogata Syndrome
Polyhydramnios, Hepatoblastoma, Large placenta, Premature birth ORPHA:254519
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Occipital encephalocele, Intrauterine... OMIM:249000
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Bronchitis, Cholestasis, Emphysema, Cirrhosis, Hepatomegaly, Jaundice... ORPHA:60
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Diastasis recti, Cryptorchidism, Cardiomegaly, Overgrowth, Hepatoblastoma... OMIM:130650
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Immunodeficiency 61
Recurrent respiratory infections, Obesity, Recurrent sinusitis OMIM:300310
Hepatic Veno-Occlusive Disease
Increased body weight, Hepatomegaly, Jaundice ORPHA:890
Wolman Disease
Acute hepatic failure, Hepatomegaly, Splenomegaly, Death in infancy OMIM:620151
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Cardiomyopathy, Familial Restrictive, 6
Hepatic artery hyperplasia, Ascites, Death in infancy, Portal vein hypoplasia, Hepatomegaly, Hydr... OMIM:619433
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Splenomegaly, Aplasia/Hypoplasia of the lungs, Hepatomegaly, Hydrops fetalis ORPHA:2204
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Hepatomegaly, Abnormal pulmonary interst... OMIM:612387
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Cryptorchidism, Congenital diaphragmatic hernia, Abnormal sp... ORPHA:2470
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Hepa... OMIM:615980
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Right ventricular hype... ORPHA:70589
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased he... OMIM:232700
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Large for ge... ORPHA:276556
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Visceromegaly, Abnormal pancreas morphology, Umbilical hernia, Exocrine... 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, Portal hypertension, Splenomegaly OMIM:610293
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary hypoplasia, Spinal dysraphism, Hepatosplenomegaly, Large placenta, Polyhydramnios, Intr... ORPHA:96334
Restrictive Dermopathy 1
Premature rupture of membranes, Pulmonary hypoplasia, Spontaneous chorioamniotic separation, Intr... OMIM:275210
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Fetal Akinesia Deformation Sequence 1
Small placenta, Intrauterine growth retardation, Increased nuchal translucency, Short umbilical c... OMIM:208150
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Restrictive Dermopathy
Pulmonary hypoplasia, Small placenta, Intrauterine growth retardation, Large placenta, Short umbi... ORPHA:1662
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Focal pa... ORPHA:79644
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Type II diabetes mellitus, Increased body weight, Diabetes mellitus, Small for gestationa... OMIM:274300
Leptin Receptor Deficiency
Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te... OMIM:614963
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Tracheal stenosis, Recurrent respiratory... ORPHA:3348
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, Pancreatic isl... ORPHA:263455
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Insulinoma
Abnormality of the pancreatic islet cells, Pituitary prolactin cell adenoma, Recurrent hypoglycem... ORPHA:97279
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung lobation, Cholestasis, ... OMIM:615415
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Obesity, Cholecystitis, Sclerosing c... ORPHA:69663
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Premature birth OMIM:267450
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Obesity, Muscular dystrophy, Distal lower limb muscle weakness ORPHA:459033
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Failure to thrive, Exoc... ORPHA:456312
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosi... OMIM:613313
Pleural Mesothelioma
Hepatomegaly, Abnormal lung morphology, Abnormal pleura morphology, Pleural effusion ORPHA:50251
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus OMIM:615981
Fetal Gaucher Disease
Abnormality of the spleen, Splenomegaly, Decreased fetal movement, Neonatal death, Fetal akinesia... ORPHA:85212
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Galactose Mutarotase Deficiency
Cholestasis, Hepatomegaly, Decreased liver function ORPHA:570422
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... OMIM:618549
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Tracheal stenosis, Tracheoesophageal fi... ORPHA:93941
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Obesity, Diabetes mellitus, Cryptorchidism OMIM:610628
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Temple Syndrome
Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cryptorchidism, Truncal... OMIM:616222
Hurler-Scheie Syndrome
Umbilical hernia, Tracheal stenosis, Splenomegaly, Hepatomegaly, Recurrent respiratory infections OMIM:607015
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Hyperglycemia, Macronodular adrenal hyperplasia, Abdominal obesity OMIM:615954
Temple Syndrome
Recurrent hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, Type II d... ORPHA:254516
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Splenomegaly OMIM:269840
Congenital Myopathy 9A
EMG: myopathic abnormalities, Obesity, Cryptorchidism OMIM:618822
Blue Diaper Syndrome
Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia ORPHA:94086
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hepatomegaly, Hydrops fetalis, Premature birth ORPHA:2123
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia OMIM:617885
Vacterl/Vater Association
Occipital encephalocele, Abnormality of the gallbladder, Tracheal stenosis, Intrauterine growth r... ORPHA:887
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Reduced circulating prolactin concentration OMIM:300888
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Hemochromatosis, Type 4
Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... OMIM:606069
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Overgrowth, Large for gestational age, Pulmonary cyst, Enlarged kidney OMIM:618272
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Death in infancy, Decreased fetal movement, Neonatal death, Polyhydramnios OMIM:300219
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Hb Bart'S Hydrops Fetalis
Oligohydramnios, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis ORPHA:163596
Wilson Disease
Proximal muscle weakness in lower limbs, Failure to thrive, Hepatitis, Acute hepatitis, Hepatic s... ORPHA:905
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Macroglossia, Increased body mass index OMIM:614450
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Premature birth ORPHA:70587
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Skeletal muscle atrophy, Recurrent hypoglycemia, Splenomegaly, Rhabdomyolysis, ... ORPHA:79240
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Death in childhood, Intermittent jaundice, Cirrhosis, Hep... OMIM:601847
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Recurrent upper respiratory tract infections, Cryptorchidism ORPHA:589905
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes m... OMIM:612526
Immunodeficiency 54
Intrauterine growth retardation, Splenomegaly, Caesarian section, Hepatomegaly, Recurrent respira... OMIM:609981
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Decreased... OMIM:256520
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis ORPHA:2414
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... 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
Hepatic fibrosis, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepatomegaly, Impaired... OMIM:615630
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly OMIM:603902
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased testicular size, Obesity, Eunuchoid habitus, Type II diabetes mellitus ORPHA:2234
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Decreased fetal movement, Lymphocytic interstitial pneumonia, Hepatomegaly, Recurre... OMIM:618495
Immunodeficiency 42
Hepatomegaly, Splenomegaly OMIM:616622
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Obesity, Ragged-red muscle fibers, Left ventricular hypertrophy, Achille... OMIM:615418
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Splenomegaly, Cholecystitis, Nonimmune hydrops f... OMIM:266200
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Pulmonary hypoplasia, Biliary cirrhos... OMIM:208540
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Splenomegaly, Recurrent sinusitis, Recurrent bronchitis, Hepatome... OMIM:607594
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Splenomegaly, Cirrho... OMIM:616860
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Insulin-resistant diabetes mellitus, Decreased test... ORPHA:66628
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Ascites, Glucose intolerance, Pleural ef... OMIM:235200
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Geleophysic Dysplasia 3
Pneumonia, Tracheal stenosis, Polyhydramnios, Hepatomegaly, Premature birth OMIM:617809
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Obesity, Decreased growth hor... OMIM:609734
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Insulin-resistant diabetes mellitus, Decreased test... ORPHA:179494
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Chol... ORPHA:264580
Fraser Syndrome 3
Abnormal lung lobation, Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Tracheal atresia, So... OMIM:617667
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Microcephaly 30, Primary, Autosomal Recessive
Intrauterine growth retardation, Tracheal stenosis, Increased nuchal translucency, Fetal distress OMIM:620183
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Occipital encephalocele, Hepatomegaly... OMIM:607361
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Oligohydramnios, Portal hypertension, Hepatic cysts, Splen... OMIM:263200
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Obesity, Chronic bronchitis OMIM:616629
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Large for gestational age, Hepatomegaly, Diabetes mellitus OMIM:616026
Jung Syndrome
Tracheal stenosis, Recurrent respiratory infections ORPHA:2321
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Cholestasis, Pleural effusion, Hepatomeg... OMIM:620233
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Failure to thrive, Hypoglycemia, Hyperglycemia, Flexion contracture, Diabe... OMIM:609069
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Intrauterine growth retardation, Polyhydramnios, Splenomegaly, Hepatomegaly, Premature birth OMIM:618541
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio... ORPHA:367
Primary Ciliary Dyskinesia
Polysplenia, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascu... ORPHA:244
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Glycosuria, Lung adenocarcinoma OMIM:618913
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Emphysema, Hepatosplenomegaly, Recurrent bronchopulmonary infections, Bronch... OMIM:242700
Keutel Syndrome
Tracheal atresia, Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent sinusitis ORPHA:85202
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly OMIM:620296
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Hypomandibular Faciocranial Dysostosis
Polyhydramnios, Recurrent respiratory infections, Tracheal stenosis, Death in infancy ORPHA:1790
Pseudohypoparathyroidism, Type Ib
Obesity, Pseudohypoparathyroidism OMIM:603233
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Recur... ORPHA:333
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Diabetes mellitus, Adrenal hyperplasia OMIM:615830
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:615710
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul... OMIM:261680
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Atelectasis, Ascites, Intrauterine growth retardation, Polyhydramnios, Splen... OMIM:269860
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros... OMIM:610978
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Immunodeficiency 40
Recurrent pneumonia, Elevated circulating aspartate aminotransferase concentration, Interstitial ... OMIM:616433
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Type I diabetes mellitus, Pulmonary fibrosis, Portal hypertension OMIM:620365
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Cholestasis, Elevated... OMIM:615486
Hypocomplementemic Urticarial Vasculitis
Emphysema, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly ORPHA:36412
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Obesity, Cryptorchidism OMIM:601794
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Umbilic... OMIM:613177
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Elevated circulating hepatic trans... ORPHA:400
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Yellow Fever
Jaundice, Acute pancreatitis, Pancreatic hyperplasia ORPHA:99829
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Death in childhood, Microvesicular hepa... OMIM:618278
Niemann-Pick Disease, Type C2
Fetal ascites, Polyhydramnios, Splenomegaly, Death in childhood, Death in infancy, Hepatomegaly, ... OMIM:607625
Tetraamelia-Multiple Malformations Syndrome
Polyhydramnios, Tracheal stenosis, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:3301
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Pleural effusion, Atelectasis ORPHA:2902
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Recurrent bronchitis, Asplenia, Bronchiectasis OMIM:244400
Dysbetalipoproteinemia
Tendon xanthomatosis, Obesity, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Diabetes mell... ORPHA:412
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Skeletal muscle atrophy, Obesity, Glucose intolerance, Abdominal obesity, Impa... OMIM:219090
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Glycosuri... ORPHA:99885
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Obesity, Hypoketotic hypoglycemia, Exercise-induced rhabdomyolysis, Hepatomegaly, Jaun... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl... OMIM:620454
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Common Variable Immunodeficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Emphysema, Abnormality of the... ORPHA:1572
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity OMIM:615812
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Eunuchoid habitus, Cryptorchidism, Hepatic steatosis, ... ORPHA:91
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Tracheal stenosis, Localized pulmonary hemorrhage, Hemosiderin-laden... OMIM:608710
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Macronodular adrenal hyperplasia, Glucose intolerance, Hepatic steatosis, Incr... ORPHA:189427
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Intraalveolar phospholipid accumulation, Hepatitis, Intrauterine growth retardation, Splenomegaly... OMIM:620565
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Adrenocortical Carcinoma
Lung adenocarcinoma, Increased body weight, Adrenocorticotropic hormone deficiency, Weight loss, ... ORPHA:1501
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Atelectasis, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Liver ab... OMIM:306400
Chronic Granulomatous Disease
Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Recurrent respiratory infections, Liver ab... ORPHA:379
Hydrolethalus
Polyhydramnios, Anencephaly, Tracheal atresia, Premature birth ORPHA:2189
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... ORPHA:209902
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis OMIM:601427
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Pu... ORPHA:95430
Pendred Syndrome
Tracheal stenosis ORPHA:705
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Obesity OMIM:612291
Sotos Syndrome
Tall stature, Glucose intolerance, Cryptorchidism, Increased body weight, Overgrowth, Prolonged n... OMIM:117550
Hypophosphatasia
Emphysema ORPHA:436
Perlman Syndrome
Visceromegaly, Hypoglycemia, Large for gestational age, Congenital diaphragmatic hernia, Cryptorc... OMIM:267000
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
Tracheal stenosis, Hepatosplenomegaly ORPHA:93352
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... OMIM:601346
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Prolonged neonatal jaundice, Pituitary hypothyroid... ORPHA:99832
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, Absent gallbladder, Small for gestational age, Panc... ORPHA:556955
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Intrauterine growth retardation, Tracheal stenosis, Recurrent respiratory infections ORPHA:2637
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Failure to thrive, Decreased testicular size, Type II diabetes mellitus, C... ORPHA:398069
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobation, Abnormality of the... ORPHA:1666
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... OMIM:613658
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pan... ORPHA:2255
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Tracheal stenosis, Sclerosing cholangitis, Retroperitoneal fibrosis ORPHA:64744
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hepatic sinusoidal dilatation, Atelectasis, Splenic cyst, Cardiomegaly, Pancreat... OMIM:620371
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Ascites, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recur... ORPHA:538
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis ORPHA:2314
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of toe, Type I diabetes mellitus, Pancreatic hypoplasia, Camptodactyly of fin... OMIM:602782
Brachytelephalangic Chondrodysplasia Punctata
Pulmonary artery stenosis, Tracheal stenosis, Recurrent respiratory infections ORPHA:79345
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening OMIM:619632
Cartilage-Hair Hypoplasia
Hepatomegaly, Tracheal stenosis, Spinal dysraphism, Abnormality of the pancreas ORPHA:175
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Overhydrated Hereditary Stomatocytosis
Prolonged neonatal jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Chondrodysplasia Punctata 2, X-Linked Dominant
Polyhydramnios, Tracheal stenosis OMIM:302960
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Cardiomegaly, Hepatomegaly, Right ventricular hypertrophy, Anoma... ORPHA:555874
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Oligohydramnios, Recurrent res... OMIM:219100
Netherton Syndrome
Emphysema, Recurrent respiratory infections ORPHA:634
17Q12 Microdeletion Syndrome
Diabetes mellitus, Cryptorchidism, Pancreatic aplasia ORPHA:261265
Zygomycosis
Hepatitis, Atelectasis, Pleural effusion, Peritonitis, Pneumothorax, Pancreatitis, Splenic absces... ORPHA:73263
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Failure to thrive, Glycosuria, Hyperglycemia, Absent gallbladder, Congenit... OMIM:600001
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Glycosuria, Maturity-onset diabetes of the young, Exocrine pancreatic insu... OMIM:137920
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal lung lobation, Tracheal stenosis, Intrauterine growth retardation, Sti... OMIM:236680
Meier-Gorlin Syndrome 4
Emphysema, Intrauterine growth retardation OMIM:613804
Craniofacioskeletal Syndrome
Intrauterine growth retardation, Tracheal stenosis, Absent gallbladder OMIM:300712
Lujo Hemorrhagic Fever
Atelectasis, Elevated circulating hepatic transaminase concentration, Fulminant hepatitis ORPHA:319213
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Intrauterine growth retardation, Abnormality of the gallbladder, Increase... ORPHA:818
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
Sarcoidosis, Susceptibility To, 1
Emphysema, Pleural effusion, Splenomegaly, Hepatomegaly, Abnormal pulmonary interstitial morpholo... OMIM:181000
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis OMIM:217980
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Absent gallbladder, Small for gestat... OMIM:618500
Geleophysic Dysplasia 1
Hepatomegaly, Laryngotracheal stenosis, Tracheal stenosis OMIM:231050
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory tract infection, Cardiomegaly, Left ventricular hypertrophy, Elevated ci... ORPHA:365
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Oligohydramnios, Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia ORPHA:536467
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ci... OMIM:219700
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
22Q11.2 Deletion Syndrome
Cholelithiasis, Atelectasis, Umbilical hernia, Abnormal lung lobation, Intrauterine growth retard... ORPHA:567
Cushing Disease
Adrenal hyperplasia, Increased body weight, Abdominal obesity, Proximal amyotrophy, Truncal obesi... ORPHA:96253
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Recurrent lower respiratory tract infections, Atelectasis ORPHA:258
Hellp Syndrome
Increased body weight, Pulmonary edema, Pleural effusion ORPHA:244242
Shwachman-Diamond Syndrome
Pneumonia, Failure to thrive, Pancreatic hypoplasia, Hypopituitarism, Decreased response to growt... ORPHA:811
Larsen Syndrome
Spina bifida occulta, Tracheal stenosis, Intrauterine growth retardation OMIM:150250
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Tracheal stenosis, Absent gallbladder ORPHA:163979
Meier-Gorlin Syndrome 1
Emphysema, Intrauterine growth retardation, Breech presentation, Death in infancy OMIM:224690
Nocardiosis
Pneumonia, Emphysema, Pleural effusion, Peritonitis, Pneumothorax, Pleuritis, Liver abscess ORPHA:31204
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Cystocele, Hemothorax, Nodular ... OMIM:130050
Sarcoidosis
Hepatic failure, Chylothorax, Decreased liver function, Emphysema, Abnormal pleura morphology, Po... ORPHA:797
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormal intrahepatic bile duct morphology, Abnormality of the pulmonary artery ORPHA:363618
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema, Intrauterine growth retarda... ORPHA:90349
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections, Umbilical hernia OMIM:616835
Oculocerebrorenal Syndrome Of Lowe
Atelectasis, Recurrent respiratory infections, Death in infancy, Umbilical hernia ORPHA:534
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Failure to thrive, Contracture of the distal interphalange... ORPHA:83617
Fraser Syndrome
Umbilical hernia, Myelomeningocele, Abnormal lung lobation, Tracheal stenosis, Encephalocele, Dea... ORPHA:2052
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Oligohydramnios, Death in chil... OMIM:614437
Ellis Van Creveld Syndrome
Emphysema, Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs ORPHA:289
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Pancreatic adenocarcinoma, Pheochromocytoma, Adrenal hyperplasia, Incr... ORPHA:99889
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Liver Disease, Severe Congenital
Pneumonia, Intrahepatic cholestasis, Portal inflammation, Failure to thrive, Pancreatic hypoplasi... OMIM:619991
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis OMIM:123700
Frontometaphyseal Dysplasia 2
Tracheal stenosis OMIM:617137
Relapsing Polychondritis
Hepatitis, Atelectasis ORPHA:728
Digeorge Syndrome
Cholelithiasis, Recurrent pneumonia, Atelectasis, Umbilical hernia, Splenomegaly, Hepatic steatos... OMIM:188400
Carney Complex
Euthyroid multinodular goiter, Leydig cell neoplasia, Sertoli cell neoplasm, Increased circulatin... ORPHA:1359
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... OMIM:245150
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema, Intrauterine growth retardation, ... 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, Intrauterine growth retardation, Absent gallbladder, Unilateral lung a... ORPHA:500150
Neonatal Marfan Syndrome
Emphysema ORPHA:284979
Marfan Syndrome
Emphysema, Pneumothorax, Pulmonary artery dilatation OMIM:154700
Marfan Syndrome
Emphysema, Meningocele, Pulmonary artery dilatation, Spontaneous pneumothorax ORPHA:558
Proteus Syndrome
Pulmonary cyst, Bronchogenic cyst, Abnormal lung lobation, Sirenomelia, Splenomegaly, Enlarged po... ORPHA:744
Viss Syndrome
Pulmonary artery aneurysm, Fetal distress, Umbilical hernia, Emphysema, Pneumothorax, Polyhydramn... OMIM:619472
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonary artery sling, Asplenia, Tracheal stenosis, Abnormality of the pulmonary artery ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonary artery sling, Asplenia, Tracheal stenosis, Abnormality of the pulmonary artery ORPHA:261552
Mowat-Wilson Syndrome
Pulmonary artery sling, Asplenia, Tracheal stenosis ORPHA:2152
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Failure to thrive, Decreased muscle mass, Decreased response to growth hormon... ORPHA:96182
Sotos Syndrome
Small cell lung carcinoma, Umbilical hernia, Prolonged neonatal jaundice, Pulmonary bleb, Neonata... 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

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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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