Not currently registered for phenotyping at IMPC

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

Gene Summary

guanylate cyclase 1, soluble, beta 1
beta 1 sGC,  Gucy1b3

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gucy1b1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gucy1b1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Abdominal pain, Acute hepatic failure, Splenomegaly, Cirrhosis, Peri... ORPHA:131
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Mungan Syndrome
Tricuspid regurgitation, Abdominal pain, Barrett esophagus, Pulmonic stenosis, Hypoperistalsis, M... OMIM:611376
Hyperimmunoglobulinemia D With Periodic Fever
Growth delay, Hepatomegaly, Increased circulating IgA level, Abdominal pain, Peritonitis, Diarrhe... ORPHA:343
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Dysphagia, Achalasia, Ischemic stroke, Hypertension OMIM:615750
Malignant Peritoneal Mesothelioma
Ileus, Abdominal distention, Abdominal pain, Peritonitis, Weight loss ORPHA:168811
Malignant Atrophic Papulosis
Telangiectasia of the skin, Abdominal pain, Arteritis, Peritonitis, Gastrointestinal infarctions,... ORPHA:679
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... OMIM:618969
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Poor suck, Weight loss, Abnormal esop... ORPHA:2198
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Vomiting, Cholestasis, Myocarditis, Uv... ORPHA:810
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
American Trypanosomiasis
Hepatomegaly, Abdominal pain, Splenomegaly, Skin rash, Diarrhea, Arrhythmia, Myocarditis, Cardiom... ORPHA:3386
Microscopic Polyangiitis
Sinusitis, Pancreatitis, Abdominal pain, Skin rash, Peritonitis, Diarrhea, Arrhythmia, Vasculitis... ORPHA:727
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Epistaxi... OMIM:211600
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Short stature, Hepatosplenomegaly, Eczema, Autoimmune thromboc... OMIM:615952
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, Peritonitis, Diarr... ORPHA:90038
Familial Mediterranean Fever
Constipation, Pancreatitis, Diarrhea, Myocardial infarction, Pericarditis, Malabsorption, Splenom... ORPHA:342
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Esophageal neoplasm, Dyspepsia, Failure to thrive, Gastroesophageal reflux, Morphologi... ORPHA:1018
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Abdominal pain, Anorexia, Cirrhosis, Hep... ORPHA:65682
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Severe short stature ORPHA:3239
Cyclic Neutropenia
Periodontitis, Sinusitis, Enterocolitis, Abdominal pain, Otitis media, Recurrent skin infections,... ORPHA:2686
Achalasia-Microcephaly Syndrome
Achalasia, Growth delay ORPHA:929
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abdominal distention, Cryptorchidism, Intestinal malrotation, Abnormality of the gastrointestinal... ORPHA:2241
Necrotizing Enterocolitis
Bloody diarrhea, Abdominal distention, Small for gestational age, Peritonitis, Diarrhea, Vomiting... ORPHA:391673
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Constipation, Orchitis, Abdominal pain, Splenomegaly, Skin rash, Peritonitis, Diarrhea, Vomiting,... ORPHA:32960
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, Feeding diff... ORPHA:411696
Tetrasomy 18P
Achalasia, Syncope ORPHA:3307
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Intracranial hemo... OMIM:173470
Gastroesophageal reflux, Raynaud phenomenon, Abnormality of the gastrointestinal tract, Hypoperis... ORPHA:167635
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis, Hypertension, Cryptorchidism, Pulmonary arterial hyperte... OMIM:613834
Bacterial Toxic-Shock Syndrome
Diarrhea, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Osteomyelitis, Peritonitis, Tachyca... ORPHA:36234
Keratitis, Pancreatitis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormality, Glossit... ORPHA:2552
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Biliary atresia, Diarr... OMIM:615710
Motor Neuropathy, Peripheral, With Dysautonomia
Achalasia, Orthostatic hypotension OMIM:252320
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Abdominal rigidity, Vomiting, Cholestasis, Esop... ORPHA:53035
Peritoneal Cystic Mesothelioma
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Weight loss ORPHA:168816
Mirage Syndrome
Decreased body weight, Gastroesophageal reflux, Short stature, Aspiration pneumonia, Intracranial... OMIM:617053
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Protracted diarrhea, Malnutrition, Death in infancy, Growth delay, Abnormal inte... OMIM:251850
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Myocardi... ORPHA:73263
Primary Peritoneal Carcinoma
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Nausea and vomiting ORPHA:168829
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... OMIM:601346
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia, Decreased response to growth hormone stimulation test, Short stature ORPHA:436174
Dystonia, Juvenile-Onset
Pseudobulbar paralysis, Cleft palate, Small for gestational age, Dysphagia, Achalasia OMIM:607371
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormalit... ORPHA:79301
Triple A Syndrome
Achalasia, Anterior hypopituitarism, Short stature ORPHA:869
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia, Short stature OMIM:221350
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Short stature, Death in early adulthood, Dysphagia, Achalasia ORPHA:79107
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Hepatic... ORPHA:774
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Growth delay, Retinal telangiectasia, Esophageal varix, Portal hypertension, Gastrointestinal hem... OMIM:617341
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Hypertension, Thrombocytopenia, Raynaud phenomenon ORPHA:401945
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention, Peritonitis, Elevated pulmonary artery pressure, Pyelonephritis, Microcolon... OMIM:619351
Familial Mediterranean Fever
Crohn's disease, Episodic abdominal pain, Hepatomegaly, Abdominal pain, Splenomegaly, Orchitis, P... OMIM:249100
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabsorption, Chronic diarrhea ORPHA:309108
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Esophageal varix, Portal hypertension OMIM:617068
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Cachexia, Abnormality of... ORPHA:1876
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... ORPHA:171
Cholelithiasis, Constipation, Hepatomegaly, Intestinal carcinoid, Neoplasm of the small intestine... ORPHA:97278
Stuve-Wiedemann Syndrome 2
Intrauterine growth retardation, Eczema, Death in adolescence, Neonatal death, Pulmonary arterial... OMIM:619751
Ovarian Fibroma
Mesenteric cyst, Abdominal distention, Abdominal pain, Peritonitis, Ovarian fibroma, Abnormality ... ORPHA:314473
Miscarriage, Diarrhea, Vomiting, Myocarditis, Pneumonia, Pericarditis, Jaundice, Septic arthritis... ORPHA:533
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Diarrhea, Esophageal varix, Nausea and vo... ORPHA:75234
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Isolated Biliary Atresia
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Severe failure to... ORPHA:30391
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas, Abdominal pain OMIM:134610
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Epistaxis, Impaired platelet aggregation OMIM:605735
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abdominal pain, Peritonitis, Pulmonary embolism, Growth delay, Minimal change glomerulonephritis ORPHA:567548
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Diarrhea, Elevated circulating aspartate aminotransfe... OMIM:278000
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Feeding difficulties in infancy, Atrial flutter, Dysphagia, A... OMIM:160900
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Abdominal pain, Hepatic failure, Splenomegaly, Cirrhosis, Small for... ORPHA:567983
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Cholelithiasis, Constipation, Hepatomegaly, Intestinal carcinoid, Neoplasm of the small intestine... ORPHA:97261
Atresia Of Small Intestine
Failure to thrive, Abdominal distention, Feeding difficulties, Short stature, Intestinal malrotat... ORPHA:1201
Wolman Disease
Abdominal distention, Hepatomegaly, Hepatic failure, Steatorrhea, Splenomegaly, Cachexia, Esophag... ORPHA:75233
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Malabsorption, Transient ischemic attack, Bundle bra... ORPHA:324
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Osteomyelitis, Pustule, Hypovolemic shock, Atopic dermatitis, Arrhythmia, Vomitin... ORPHA:171876
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai... OMIM:619991
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Ovarian neoplasm, Neoplasm of the large intestine, Colorectal poly... ORPHA:157798
Retinitis Pigmentosa 89
Micronodular cirrhosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, ... OMIM:618955
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Gastroesophageal reflux, Feeding difficulties, Small intestinal dysmotility, A... OMIM:619482
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Feingold Syndrome 2
Postnatal growth retardation, Intestinal atresia, Short stature OMIM:614326
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Impaired platelet aggregation, Gastrointestinal hemorrha... OMIM:193400
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Cirrhosis, Familial
Abdominal distention, Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Esophageal varix, H... OMIM:215600
Ovarian Fibrothecoma
Abdominal distention, Abdominal pain, Peritonitis, Ovarian fibroma, Abnormality of the ovary ORPHA:314478
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Gastroi... OMIM:231200
Alacrima, Achalasia, And Mental Retardation Syndrome
Feeding difficulties, Orthostatic hypotension, Esophageal stenosis, Dysphagia, Achalasia OMIM:615510
Systemic Sclerosis
Myocarditis, Pericarditis, Abnormal large intestine morphology, Osteomyelitis, Right ventricular ... ORPHA:90291
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... ORPHA:209964
Glycogen Storage Disease Iv
Failure to thrive, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Esophageal varix, Portal hyper... OMIM:232500
Achalasia, Familial Esophageal
Achalasia, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca OMIM:200400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Myocardial infarction, Impaired ADP-induced pl... OMIM:155100
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarcinoma, Ab... ORPHA:2869
Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Peritonitis, Abnormality of the spleen, Inc... ORPHA:228123
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosple... ORPHA:367
Congenital Short Bowel Syndrome
Failure to thrive, Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation,... OMIM:615237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function, Splenomegaly ORPHA:231393
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypocellularity, ... OMIM:615190
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Elevated hepatic transaminase, In... OMIM:602347
Leukocyte Adhesion Deficiency
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... ORPHA:2968
Cleft Palate, Cardiac Defects, And Mental Retardation
Gastroesophageal reflux, Feeding difficulties, Cleft palate, Short stature, Achalasia OMIM:600987
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Short stature, Poor suck, Pulmonic stenosis, Abnormal es... OMIM:613706
Posterior Column Ataxia With Retinitis Pigmentosa
Achalasia OMIM:609033
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abdominal pain, Minimal change glomerulonephritis ORPHA:656
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer, Arthritis OMIM:161700
Episodic abdominal pain, Multiple intestinal neurofibromatosis, Abnormal rectum morphology, Color... ORPHA:251992
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal ... ORPHA:3032
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death OMIM:612138
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Aortic valve stenosis, Intestinal malrotation, Tracheoesophageal ... ORPHA:210122
Keratitis, Sinusitis, Osteomyelitis, Maculopapular exanthema, Peritonitis, Abnormality of the spl... ORPHA:228119
Central Hypoventilation Syndrome, Congenital, 1
Feeding difficulties, Decreased heart rate variability, Chronic constipation, Ineffective esophag... OMIM:209880
Caroli Disease, Isolated
Hepatomegaly, Vomiting, Esophageal varix, Cholangitis, Portal hypertension, Liver abscess OMIM:600643
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Splenomeg... OMIM:614576
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Hemobilia, Abnormal stomach morphology, Intussusception, Feeding... ORPHA:512
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix, ... OMIM:613490
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... OMIM:619662
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Neonatal death, Hepatic cysts, Esophageal varix,... OMIM:263200
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Impaired ristocetin-induced platelet aggregation, Spontaneous, recur... ORPHA:849
Achalasia-Addisonianism-Alacrima Syndrome
Achalasia, Orthostatic hypotension, Short stature OMIM:231550
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Hepatocellular ... ORPHA:370
Keratitis, Cutaneous abscess, Thyroiditis, Osteomyelitis, Anorexia, Peritonitis, Lymphadenitis, E... ORPHA:31204
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Iridocyclitis, Chron... OMIM:240300
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Intrauterine growth retardation, Hepatomegaly, Feeding difficulties, Short stature, Elevated hepa... OMIM:615356
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased body weight, Gastroesophageal reflux, Constipation, Feeding difficul... ORPHA:89842
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Increased ... ORPHA:264580
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Delayed puberty, Postnatal growth retardation, Increased circulating IgE l... OMIM:618985
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis, Abnormal platelet morpho... ORPHA:2978
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Mirizzi Syndrome
Cholelithiasis, Abdominal distention, Pancreatitis, Abdominal pain, Jaundice, Anorexia, Tachycard... ORPHA:521219
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Bronchogenic Cyst
Abnormal stomach morphology, Abdominal pain, Abnormal esophagus morphology, Abnormality of the pe... ORPHA:2357
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Esophageal stenosis OMIM:619817
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Shock, Abnormal intestine morpholo... OMIM:600351
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Telangiectasia of the skin, Growth delay, Decreased response to growth hormone stimulation test, ... OMIM:616007
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Splenomegaly, Hepatic fibrosis, Esophageal varix, Portal hypertension OMIM:616589
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Hematochezia, Elevated hepatic t... ORPHA:79095
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Abdominal pain, Spontaneous esophageal perforation, Malnutrition, Gastropar... OMIM:277320
Failure to thrive, Gastroesophageal reflux, Decreased circulating IgG level, Feeding difficulties... ORPHA:79329
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Vomiting, Cholestasis, Esophageal varix, Prolonged neonatal jaundi... OMIM:301068
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Persistent fetal circulation, Small for gestational age, Thrombocytopenia, Feedin... OMIM:618775
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Dysphagia, Achalasia OMIM:300858
Microgastria-Limb Reduction Defects Association
Failure to thrive, Gastroesophageal reflux, Intestinal malrotation, Splenogonadal fusion, Biliary... OMIM:156810
Cholelithiasis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Hypertrophic cardiomyopathy ORPHA:848
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... ORPHA:263665
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Sudden cardiac death, Eczema, Hematochezia, Prolonged bleeding time, Ble... ORPHA:906
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Death in childhood, Diarrhea, Neonatal death, Cholestasis, Hepatic fibrosis, Death in ... OMIM:609313
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hypoparathyroidism, High-output congestive heart failur... ORPHA:231222
Reynolds Syndrome
Telangiectasia of the skin, Abnormal gastric mucosa morphology, Gastroesophageal reflux, Hepatome... ORPHA:779
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Budd-Chiari syndrome, Hepatomegaly, Abdominal pain, Diarrhea, Pulmonary embolism, ... OMIM:226300
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Failure to thrive, Abdominal distention, Hepatomegaly, Diarrhea, Vomiti... OMIM:608104
Caroli Syndrome
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Abdominal rigidity, Esop... ORPHA:480520
Intellectual Disability-Alacrima-Achalasia Syndrome
Dysphagia, Achalasia ORPHA:289483
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Hepatic fail... ORPHA:79303
Keratitis, Myocarditis, Uveitis, Transient ischemic attack, Pericarditis, Abnormal large intestin... ORPHA:801
Cholelithiasis, Hepatomegaly, Episodic abdominal pain, High, narrow palate, Hepatosplenomegaly, E... ORPHA:3166
Coach Syndrome 1
Growth delay, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrhosis, Elevated ... OMIM:216360
Trichohepatoneurodevelopmental Syndrome
High palate, Decreased liver function, Cholelithiasis, Decreased body weight, Gastroesophageal re... OMIM:618268
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Constipation, Abnormal esophagus morphology, Spontaneous esophageal perforation, Esophageal stric... OMIM:226600
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Skin rash, Gast... ORPHA:44890
Fanconi Anemia, Complementation Group Q
Short stature, Biliary atresia, Anteriorly placed anus, Bone marrow hypocellularity, Growth delay... OMIM:615272
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Failure to thrive, Projectile vomiting OMIM:179010
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Pso... OMIM:243150
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation, Epistaxis OMIM:609821
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Panhypogam... OMIM:209920
Fanconi Anemia, Complementation Group O
Anal atresia, Miscarriage, Short stature, Neonatal death, Death in infancy, Cryptorchidism, Recta... OMIM:613390
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Abdominal pain, Neoplasm of the pancreas ORPHA:438274
Keratitis, Sinusitis, Osteomyelitis, Intracranial hemorrhage, Abnormal esophagus morphology, Hepa... ORPHA:1163
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function, Splenomegaly ORPHA:2585
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Intestinal malrotation, Vomiting, Pyloric stenosis, Feeding difficulties in... OMIM:300048
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis OMIM:614009
Hepatocellular Carcinoma
Hepatomegaly, Diarrhea, Esophageal varix, Weight loss, Poor appetite, Jaundice, Elevated hepatic ... ORPHA:88673
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Hepatomegaly, Abdominal pain, Biliary tract abnormality, Jaun... ORPHA:234
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Postnatal growth retardation, Feeding difficulties, Cleft palate, Small for gestatio... ORPHA:96184
Disorder Of Bile Acid Synthesis
Cholestasis, Biliary tract abnormality, Elevated hepatic transaminase, Fat malabsorption, Abnorma... ORPHA:79168
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Eczema, Cirrhosis ORPHA:79278
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Testicular seminoma, Abnormal stomach morphology, Short stature ORPHA:281090
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Impaired platelet adhesion, Intracranial hemorrhage, Diarrhea, Autoimmune throm... ORPHA:324636
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Cholelithiasis, Failure to thrive, Decreased body weight, Short stature, Furrowed to... OMIM:300534
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Gastric ulcer, Duodenal ulcer, Esophageal ulceration OMIM:618372
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Triosephosphate Isomerase Deficiency
Cholelithiasis, Failure to thrive, Splenomegaly, Death in adolescence, Cholecystitis, Death in in... OMIM:615512
Prostatitis, Osteomyelitis, Cirrhosis, Peritonitis, Vomiting, Pneumonia ORPHA:1546
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Esophageal varix, Fat malabsorption, Gastrointes... ORPHA:731
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Periodontitis, Gastroesophageal reflux, Hepatomegaly, Chronic o... OMIM:608233
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, ... OMIM:616100
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Short stature, Esophageal stricture, Dilated cardiomyopathy, Hepatic fibrosis,... OMIM:613989
Hereditary Spherocytosis
Cholelithiasis, Abdominal distention, Hepatomegaly, Abdominal pain, Splenomegaly, Restrictive car... ORPHA:822
Lysosomal Acid Lipase Deficiency
Hepatic failure, Steatorrhea, Diarrhea, Vomiting, Esophageal varix, Weight loss, Jaundice, Feedin... ORPHA:275761
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... ORPHA:79302
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Hematemesis, Decreased platelet glycoprotein Ib... ORPHA:274
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... OMIM:139090
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Decreased body weight, Hepatic failure, Poor suck, Short stature, Elevated hepati... OMIM:614886
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Eczema, Esophageal varix, Bone marrow hypocellularity, Feeding difficulties, Spleno... OMIM:615688
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Telangiectasia, Crusting erythematous dermatitis ORPHA:158673
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Eczema, Hepatic failure OMIM:177000
Cerebrotendinous Xanthomatosis
Cholelithiasis, Angina pectoris, Pseudobulbar paralysis, Diarrhea, Myocardial infarction OMIM:213700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Cholecystitis, Pigment g... OMIM:613470
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Jaundice, Splenomegaly OMIM:224100
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thr... OMIM:187800
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Mitral regurgitation, Hypertension, Colonic diverticula OMIM:173900
Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly ORPHA:846
22Q11.2 Deletion Syndrome
Cholelithiasis, Constipation, Cleft palate, Impaired T cell function, Acne, Anorectal anomaly, Ga... ORPHA:567
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Bacterial endocarditis, Feeding difficulties, Splenomegaly, Cachexia, Hepatosplen... ORPHA:2072
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic ... OMIM:208540
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Feeding difficulties, Small for gestational... ORPHA:2255
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Failure to thrive, Hepatomegaly, Cleft palate, Decreased circulating total IgM, E... ORPHA:83617
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Impaired platelet aggregation, Abnormal alpha granule content, Th... OMIM:601399
Adams-Oliver Syndrome
Failure to thrive, Cirrhosis, Congenital hepatic fibrosis, Thrombocytopenia, Esophageal varix, Po... ORPHA:974
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Abdominal cramps, Slender build, Malabsorption, Early satiety, Constipation, Abdominal pain, Cach... OMIM:603041
Von Willebrand Disease, Type 3
Joint hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Epistaxis, Prolonged bleeding ... OMIM:277480
Plummer-Vinson Syndrome
Cheilitis, Abdominal pain, Esophageal web, Glossitis, Tongue atrophy, Dysphagia, Poor appetite ORPHA:54028
Senior-Boichis Syndrome
Cirrhosis, Hepatosplenomegaly, Reduced number of intrahepatic bile ducts, Malformation of the hep... ORPHA:84081
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Arthritis, Serositis, Glomerulonephritis, Hypertension, Synovitis ORPHA:567544
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Juvenile Polyposis Syndrome
Failure to thrive, Multiple gastric polyps, Intussusception, Abdominal pain, Duodenal adenocarcin... OMIM:174900
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Intrauterine growth retardation, Oral leukoplakia, Esophageal stenosis OMIM:616553
Bleeding Disorder, Platelet-Type, 21
Eczema, Impaired platelet aggregation, Psoriasiform dermatitis, Thrombocytopenia OMIM:617443
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Multiple gastric polyps, Intussus... OMIM:175200
Immunodeficiency 17
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Chronic oral candidiasis, E... OMIM:615607
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice OMIM:266200
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia, Recurrent skin infections OMIM:614171
Afibrinogenemia, Congenital
Hematemesis, Subdural hemorrhage, Death in childhood, Epidural hemorrhage, Death in adolescence, ... OMIM:202400
Barrett Esophagus
Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus OMIM:614266
Radiation Proctitis
Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, Abnormal rectum morpholo... ORPHA:70475
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Macrothrombocytopenia, Thrombocytopenia, Decreased pl... OMIM:603585
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:605479
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short stature, Tracheoesophageal fistula, Neonatal death, Bilateral cryptorchidism, Esophageal at... OMIM:619859
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Abdominal distention, Episodic abdominal pain, Hepatomegaly, Intrahepatic ... ORPHA:100085
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Growth delay, Gastrointestinal inflammation ORPHA:79409
Blue Rubber Bleb Nevus
Abnormality of the liver, Intestinal bleeding, Intussusception, Rectal prolapse, Thrombocytopenia... OMIM:112200
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Gout OMIM:232800
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Failure to thrive, Hiatus hernia, Gastroesophageal reflux, Feeding difficulties, He... ORPHA:2538
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level, Gastric ulcer OMIM:604928
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Intractable diarrhea, Esophageal atresia, Death in infancy OMIM:226730
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Abdominal distention, Abdominal pain, Steator... OMIM:212750
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Abdominal pain, Splenomegaly, Hypertension, Jaundice OMIM:603903
Non-Syndromic Posterior Hypospadias
Anal atresia, Cleft palate, Small for gestational age, Cryptorchidism, Esophageal atresia ORPHA:95706
Benign Schwannoma
Intestinal polyposis, Abnormal esophagus morphology, Abnormality of the liver, Abnormal parotid g... ORPHA:252164
Adams-Oliver Syndrome 5
Splenomegaly, Pulmonic stenosis, Esophageal varix, Pulmonary arterial hypertension, Hypersplenism OMIM:616028
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cleft palate, Severe failure to thrive, Short stature, Vomiting... ORPHA:97297
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Colon perforation, Intestinal malrotation, Biliary atresia, Pulmonic stenosis,... OMIM:600001
Dyskeratosis Congenita
Neoplasm of the pancreas, Telangiectasia of the skin, Malabsorption, Blepharitis, Hepatomegaly, P... ORPHA:1775
Immunodeficiency 23
High palate, Failure to thrive, Vasculitis in the skin, Eczema, Membranoproliferative glomerulone... OMIM:615816
Septo-Optic Dysplasia Spectrum
Constipation, Cleft palate, Short stature, Tracheoesophageal fistula, Obesity, Cryptorchidism, Es... ORPHA:3157
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Decreased liver function, Slender build, Failure to thrive, Gastroesophageal reflux,... OMIM:613658
Trisomy 8P
Annular pancreas, Constipation, Cleft palate, Malrotation of small bowel, Bifid uvula, Heart murm... ORPHA:264450
Abcd Syndrome
Large for gestational age, Total intestinal aganglionosis, Neonatal death, Aganglionic megacolon OMIM:600501
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Constipation, High, narrow palate, Cleft palate, Furrowed tongue, Recurrent pneum... ORPHA:464738
Stevens-Johnson Syndrome
Pancreatitis, Abdominal pain, Acute hepatic failure, Sudden cardiac death, Diarrhea, Esophageal s... ORPHA:36426
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Impaired neutrophil chemotaxis, Reduce... OMIM:619374
Trisomy 10P
High palate, Gastroesophageal reflux, Small for gestational age, Poor suck, Absent gallbladder, D... ORPHA:171929
Steinert Myotonic Dystrophy
Cholelithiasis, Testicular atrophy, Constipation, Diarrhea, Intestinal pseudo-obstruction, Ovaria... ORPHA:273
Zttk Syndrome
High palate, Failure to thrive, Intestinal atresia, Feeding difficulties, Short stature, Bifid uv... OMIM:617140
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Elevated hepatic transaminase, Esophageal var... ORPHA:309854
Classic Homocystinuria
High palate, Hepatomegaly, Anorexia, Intracranial hemorrhage, Pulmonary embolism, Cerebral ischem... ORPHA:394
Quebec Platelet Disorder
Joint hemorrhage, Thrombocytopenia, Epistaxis, Impaired epinephrine-induced platelet aggregation OMIM:601709
Meckel Syndrome, Type 2
Intestinal malrotation, Bile duct proliferation, Intrauterine growth retardation, Cleft palate OMIM:603194
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Cleft palate, Esophageal diverticulum, Neonatal death, Hamartoma of tongue, Absent ... OMIM:617925
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia, Intrauterine growth retardation ORPHA:1923
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Bloody diarrhea, Abdominal distention, Intestinal atresia, Intes... ORPHA:436252
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly OMIM:222800
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatomegaly, Cleft palate, Hepatosplenomegaly, Cholecystitis, Recurrent otitis m... OMIM:301066
Noonan Syndrome
High palate, Hepatomegaly, Short stature, Abnormality of the spleen, Arrhythmia, Abnormal platele... ORPHA:648
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Duodenal atresia, Tracheoesophageal fistula, Death in infancy, G... OMIM:300514
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Primary Biliary Cholangitis
Abdominal distention, Increased circulating IgA level, Hepatic failure, Cirrhosis, Orthostatic hy... ORPHA:186
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Epistaxis OMIM:614076
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly OMIM:235700
Sickle Cell Anemia
Osteomyelitis, Abnormality of the spleen, Cholestasis, Thrombocytosis, Pigment gallstones ORPHA:232
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, Ch... ORPHA:562639
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Feeding difficulties, Death in ea... OMIM:619273
Chronic Granulomatous Disease
Malabsorption, Sinusitis, Hepatomegaly, Splenomegaly, Otitis media, Tracheoesophageal fistula, Ec... ORPHA:379
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Allergic conjunctivitis, Small for gestational age, Short stature, Impaire... OMIM:176690
Feingold Syndrome
Annular pancreas, Duodenal atresia, Short stature, Abnormality of the spleen, Esophageal atresia ORPHA:1305
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocytopenia, Epis... OMIM:614074
Hereditary Elliptocytosis
Cholelithiasis, Abdominal pain, Splenomegaly, Prolonged neonatal jaundice, Postnatal growth retar... ORPHA:288
Urachal Cyst
Peritonitis, Abdominal pain ORPHA:488
Meckel Syndrome, Type 6
Cleft palate, Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cysti... OMIM:612284
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Feeding difficulties, Postnatal growth retardation, Gastroesophageal reflux, Esophagitis ORPHA:79350
Fg Syndrome Type 1
High palate, Anal atresia, Malrotation of colon, Slender build, Gastroesophageal reflux, Constipa... ORPHA:93932
Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Thyroiditis, Cholangiocarcinoma, Pituitary adenoma, Pancreatitis, ... ORPHA:733
Pseudohypoparathyroidism Type 1A
Abdominal symptom, Conjunctivitis, Decreased response to growth hormone stimulation test, Reduced... ORPHA:79443
Coffin-Siris Syndrome 11
High palate, Bifid uvula, Feeding difficulties in infancy, Esophageal atresia, Cleft soft palate OMIM:618779
Visceral Myopathy 1
Constipation, Abdominal distention, Abdominal pain, Pancreatitis, Diarrhea, Vomiting, Dysphagia, ... OMIM:155310
Williams Syndrome
Cholelithiasis, Constipation, Tracheoesophageal fistula, Sudden cardiac death, Death in early adu... ORPHA:904
Glycogen Storage Disease Xii
Cholelithiasis, Hepatomegaly, Splenomegaly, Short stature, Cholecystitis, Elevated circulating al... OMIM:611881
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Epistaxis, Prolonged bleeding time, Abnormal platelet ... OMIM:614075
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Distal Trisomy 5Q
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Eczema, Short stature ORPHA:96097
Chédiak-Higashi Syndrome
Decreased liver function, Periodontitis, Recurrent bacterial skin infections, Skin rash, Splenome... ORPHA:167
Kindler Syndrome
Telangiectasia of the skin, Periodontitis, Anal stenosis, Esophageal stenosis, Dysphagia, Oral le... OMIM:173650
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Abnormal large intestine morphology, Narrow palate, Short stature, Cachexia, Int... ORPHA:109
Hepatomegaly, Macroglossia, Cleft palate, Intestinal malrotation, Abnormality of the pancreas, Ab... ORPHA:3376
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Pulmonary venous hypertension, Abdominal pain, Splenomegaly, Intermittent jaundice ORPHA:3202
Wilson Disease
Hypoparathyroidism, Abdominal distention, Hepatomegaly, Hepatic failure, Acute hepatic failure, S... OMIM:277900
High palate, Hepatosplenomegaly, Increased mean platelet volume, Elevated hepatic transaminase, I... OMIM:607330
Digeorge Syndrome
High palate, Hydrocele testis, Cholelithiasis, Cleft palate, Ovarian cyst, Impaired T cell functi... OMIM:188400
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, High, narrow palate ORPHA:96092
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Feeding difficulties, Orthostatic hypotension, Vomiting, Hypotension, Postnata... ORPHA:556030
Chronic Graft Versus Host Disease
Bronchiectasis, Gastroesophageal reflux, Abdominal pain, Anorexia, Xerostomia, Abnormal esophagus... ORPHA:99921
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cleft palate, Short stature, Intracranial hemorrhage, Heart murmur, Absent gallbladder, Cryptorch... ORPHA:163979
Pancreatic Agenesis-Holoprosencephaly Syndrome
High palate, Small for gestational age, Pancreatic aplasia, Absent gallbladder, Intrauterine grow... ORPHA:556955
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Orthostatic hypotension, Vomiting, Hypotension, Postnatal growth retardation ORPHA:556037
Spherocytosis, Type 1
Cholelithiasis, Jaundice, Splenomegaly OMIM:182900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Cryptorchidism, Esophageal atresia, Growth delay ORPHA:77298
Cartilage-Hair Hypoplasia
Malabsorption, Neonatal short-limb short stature, Constipation, Anal stenosis, Esophageal atresia... OMIM:250250
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Epistaxis OMIM:614077
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Epistaxis, Reduced platelet dense granules OMIM:619172
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Jaundice OMIM:194380
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hepatomegaly, Hepatic failure, S... ORPHA:77293
Gallbladder Neuroendocrine Tumor
Abdominal distention, Episodic abdominal pain, Extrahepatic cholestasis, Anorexia, Cholecystitis,... ORPHA:100086
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate OMIM:614526
Dyskeratosis Congenita, Autosomal Recessive 1
Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia, Oral leuko... OMIM:224230
Bartter Syndrome, Type 2, Antenatal
Failure to thrive, Constipation, Small for gestational age, Short stature, Diarrhea, Vomiting, Im... OMIM:241200
Tracheoesophageal fistula, Anal atresia, Esophageal atresia, Aganglionic megacolon ORPHA:59315
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Short stature, Tracheoesophageal fistula, Esophageal atresia, Submucous cleft h... OMIM:619227
Sitosterolemia 1
Abdominal pain, Splenomegaly, Arthritis, Impaired platelet aggregation, Giant platelets, Thromboc... OMIM:210250
Apert Syndrome
Ectopic anus, Narrow palate, Ovarian neoplasm, Cleft palate, Bifid uvula, Feeding difficulties in... ORPHA:87
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroesophageal reflux, Decreased circulating IgG level, Cleft palate, Submucous cleft soft pala... ORPHA:500150
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... OMIM:613027
Feingold Syndrome Type 1
Anal atresia, Duodenal atresia, Nephritis, Short stature, Tricuspid stenosis, Gastrointestinal at... ORPHA:391641
Metachromatic Leukodystrophy, Adult Form
Abdominal distention, Orthostatic hypotension due to autonomic dysfunction, Cholecystitis, Bowel ... ORPHA:309271
Peters-Plus Syndrome
Disproportionate short-limb short stature, Decreased body weight, Cleft palate, Pulmonic stenosis... OMIM:261540
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Esophag... OMIM:619534
Craniofacioskeletal Syndrome
Cleft palate, Short stature, Absent gallbladder, Cryptorchidism, Intrauterine growth retardation OMIM:300712
Meckel Syndrome, Type 3
Hepatomegaly, Cleft palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct... OMIM:607361
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Serositis, Malar rash, Pericarditis, Thrombocytopenia ORPHA:231111
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia, Cleft palate ORPHA:1335
Mandibulofacial Dysostosis, Guion-Almeida Type
Feeding difficulties in infancy, Esophageal atresia, Cleft palate, Short stature OMIM:610536
Distal Monosomy 12Q
Annular pancreas, Growth delay, Duodenal atresia, Pituitary adenoma, High, narrow palate, Short s... ORPHA:96149
Tetrasomy 9P
High palate, Intrauterine growth retardation, Feeding difficulties, Cleft palate, Biliary atresia... ORPHA:3310
Feingold Syndrome 1
High palate, Annular pancreas, Duodenal atresia, Tracheoesophageal fistula, Accessory spleen, Pol... OMIM:164280
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoes... OMIM:265380
Porphyria, Congenital Erythropoietic
Cholelithiasis, Short stature, Splenomegaly, Thrombocytopenia, Conjunctivitis OMIM:263700
Ring Chromosome 13 Syndrome
High palate, Anal atresia, Hypoplasia of the gallbladder, Growth delay ORPHA:96176
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Failure to thrive, Feeding difficulties, Macrovesicular hepatic steatos... OMIM:618329
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Abnormal platelet morphology, Thrombocytopenia OMIM:300835
Fanconi Anemia, Complementation Group D2
Annular pancreas, Small for gestational age, Short stature, Tracheoesophageal fistula, Bone marro... OMIM:227646
Congenital Tracheomalacia
Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Tracheoesophageal fistula, Pneu... ORPHA:95430
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Miscarriage, Hemothorax, Pulmonary hemorrhage, Subarachnoid h... OMIM:187300
Trisomy 18
Anal atresia, Intrauterine growth retardation, Narrow palate, Cleft palate, Short stature, Cachex... ORPHA:3380
Fryns Syndrome
Anal atresia, Duodenal atresia, Stillbirth, Cleft palate, Intestinal malrotation, Ectopic pancrea... OMIM:229850
Fanconi Anemia, Complementation Group L
Anal atresia, Intrauterine growth retardation, Feeding difficulties, Cleft palate, Tracheoesophag... OMIM:614083
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... ORPHA:141127
Kindler Epidermolysis Bullosa
Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Inflammation of the large intestine... ORPHA:2908
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Abdominal distention, Neonatal death OMIM:619362
Severe Generalized Junctional Epidermolysis Bullosa
Failure to thrive, Constipation, Pyoderma, Recurrent skin infections, Vomiting, Esophageal strict... ORPHA:79404
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastroesophageal reflux, Recurrent skin infections, Glomerulonephritis, Dilated cardiomyopathy, M... ORPHA:79408
Steinfeld Syndrome
Absent gallbladder, Median cleft lip and palate, Bifid uvula OMIM:184705
Apert Syndrome
Ectopic anus, Narrow palate, Cleft palate, Bifid uvula, Chronic otitis media, Rhizomelic arm shor... OMIM:101200
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea, Prolonged neonatal jaundice ORPHA:909
Vacterl With Hydrocephalus
Anal atresia, Intrauterine growth retardation, Tracheoesophageal fistula, Cryptorchidism, Esophag... ORPHA:3412
Abnormal biliary tract morphology, Intestinal bleeding, Multiple intestinal neurofibromatosis, En... ORPHA:252183
Hyper-Igd Syndrome
Increased circulating IgA level, Chronic oral candidiasis, Abdominal pain, Splenomegaly, Skin ras... OMIM:260920
Congenital Disorder Of Glycosylation, Type Iiw
Failure to thrive, Recurrent otitis media, Hepatomegaly, Gastroesophageal reflux, Splenomegaly, P... OMIM:619525
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Junctional Epidermolysis Bullosa With Pyloric Atresia
Abdominal distention, Intestinal atresia, Recurrent skin infections, Congenital pyloric atresia, ... ORPHA:79403
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepati... OMIM:203700
Dyskeratosis Congenita, X-Linked
Blepharitis, Intrauterine growth retardation, Conjunctivitis, Short stature, Cirrhosis, Anal muco... OMIM:305000
Meckel Syndrome, Type 4
Bile duct proliferation, Intrauterine growth retardation, Cleft palate OMIM:611134
Van Esch-O'Driscoll Syndrome
Feeding difficulties, Short stature, Tracheoesophageal fistula, Esophageal atresia, Bifid uvula, ... OMIM:301030
Microphthalmia, Syndromic 3
Short stature, Postnatal growth retardation, Cryptorchidism, Esophageal atresia, Anterior pituita... OMIM:206900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Nephritis, Short stature, Polycystic liver disease, Pancreatic fibrosis, Pulmonary insufficiency,... OMIM:208500
Cranioectodermal Dysplasia 2
High palate, Hepatomegaly, Cleft palate, Splenomegaly, Short stature, Cholestasis, Elevated hepat... OMIM:613610
Meckel Syndrome, Type 5
Bile duct proliferation, Cleft palate OMIM:611561
Maternal Phenylketonuria
High palate, Intrauterine growth retardation, Esophageal atresia ORPHA:2209
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Cholestasis, Portal hypertension, Bile duct proliferat... OMIM:267010
D-Bifunctional Protein Deficiency
High palate, Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Feeding difficulties in ... OMIM:261515
Gabriele-De Vries Syndrome
High palate, Intrauterine growth retardation, Decreased response to growth hormone stimulation te... ORPHA:506358
Viss Syndrome
High palate, Chronic gastritis, Eczema, Broad uvula, Decreased circulating IgA level, High, narro... OMIM:619472
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Cholestasis, Esophageal varix, Thyroid hypoplasia, Feeding difficulties, Small pitui... OMIM:619503
Alström Syndrome
Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Otitis media, Hyoplasia o... ORPHA:64
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia, Abdominal distention, Vomiting ORPHA:158684
Meckel Syndrome, Type 1
Anal atresia, Cleft palate, Splenomegaly, Intestinal malrotation, Accessory spleen, Malformation ... OMIM:249000
Vater/Vacterl Association
Failure to thrive, Anal atresia, Intrauterine growth retardation, Tracheoesophageal fistula, Post... OMIM:192350
Charge Syndrome
Hypoparathyroidism, Anal atresia, Duodenal atresia, Decreased response to growth hormone stimulat... OMIM:214800
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ectopic anus, Anal atresia, Disproportionate short-limb short stature, Abdominal distention, Bifi... ORPHA:93271
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688


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 Gucy1b1

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 Gucy1b1.

No publications found that use IMPC mice or data for Gucy1b1.

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MGI Allele Allele Type Produced
Gucy1b1tm368930(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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