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
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Mungan Syndrome
Tricuspid regurgitation, Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoper... OMIM:611376
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... ORPHA:343
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Achalasia, Thrombocytopenia OMIM:615750
Dietary Iron Overload Disease
Hepatic steatosis, Hepatomegaly, Viral hepatitis, Congestive heart failure, Peritonitis, Esophage... ORPHA:139507
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Immunodeficiency 70
Furuncle, Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... ORPHA:2198
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, V... ORPHA:810
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... OMIM:273800
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... ORPHA:727
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Short stature, Eczema, Autoimmune thrombocytopenia, Celiac disease, Hepatosplenomegaly, Decreased... OMIM:615952
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Short stature, Epistaxis, Intrahepatic cholestasis with episodic jaundice, Splenome... OMIM:211600
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Keratitis, Weight loss, Abn... ORPHA:1018
Familial Mediterranean Fever
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Abdom... ORPHA:342
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Myocardial infarction, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Dia... ORPHA:90038
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Impaired ... ORPHA:849
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d... ORPHA:65682
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Severe short stature ORPHA:3239
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Achalasia-Microcephaly Syndrome
Growth delay, Achalasia ORPHA:929
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Necrotizing Enterocolitis
Shock, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, V... ORPHA:391673
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Overweight, Intrahepa... ORPHA:69663
Pancreatic Colipase Deficiency
Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreat... ORPHA:309108
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Death in infancy, Nausea and vomiting, Intestinal malr... ORPHA:2241
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Pericarditis, Fasciitis, Myositis, Skin rash, Abdominal pain, Orchitis, S... ORPHA:32960
Tetrasomy 18P
Achalasia, Syncope ORPHA:3307
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Abnormality of the gastrointestinal tract, Transient ischemic attack, Hypoperistalsis, Raynaud ph... ORPHA:167635
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis, Cryptorchidism, Hypertension, Pulmonary arterial hyperte... OMIM:613834
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Vomiting, Infectious encephalitis, Nausea, Abdominal pain, Hepati... ORPHA:36234
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality... ORPHA:2552
Mirage Syndrome
Short stature, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Hypoplastic spleen, Intrac... OMIM:617053
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... OMIM:619267
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Villous atrophy, Malnutrition, Protracted diarrhea, Growth delay, Abnormal inte... OMIM:251850
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr... OMIM:615710
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia, Short stature, Decreased response to growth hormone stimulation test ORPHA:436174
Triple A Syndrome
Anterior hypopituitarism, Achalasia, Short stature ORPHA:869
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia, Short stature OMIM:221350
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... ORPHA:79301
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemi... ORPHA:774
Dystonia-Deafness Syndrome 1
Small for gestational age, Cleft palate, Pseudobulbar paralysis, Dysphagia, Achalasia OMIM:607371
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Growt... OMIM:617341
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Short stature, Macroglossia, Dysphagia, Achalasia ORPHA:79107
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Bidirectional shunt, Elevated p... OMIM:619351
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Abdominal pain, Orchitis, Splenomegaly, Diarrhea, Peritonitis, Episod... OMIM:249100
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality ... ORPHA:314473
Stuve-Wiedemann Syndrome 2
Eczema, Congestive heart failure, Death in adolescence, Pulmonary arterial hypertension, Stillbir... OMIM:619751
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Esophageal varix, Cirrhosis,... ORPHA:75234
Meier-Gorlin Syndrome 7
Anal stenosis, Short stature, Heart block, Cryptorchidism, Cleft palate, Duodenal stenosis, Anter... OMIM:617063
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97278
Liver abscess, Vomiting, Conjunctivitis, Cholecystitis, Infectious encephalitis, Nausea, Abdomina... ORPHA:533
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Small for gestational age, Atretic ... ORPHA:30391
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas, Abdominal pain OMIM:134610
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder,... ORPHA:171
Idiopathic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Abdominal pain, Pulmonary embolism, Peritonitis, Growth delay ORPHA:567548
Cholesteryl Ester Storage Disease
Acute hepatic failure, Vomiting, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Death in infa... OMIM:278000
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Intestinal bleeding, Joint hemorrhage, Epistaxis OMIM:605735
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Nausea and vomiting, Angina pectoris, Transient... ORPHA:324
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... ORPHA:1201
Wolman Disease
Nausea and vomiting, Hepatomegaly, Cachexia, Splenomegaly, Abdominal distention, Malnutrition, Es... ORPHA:75233
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Feeding diffic... ORPHA:171876
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Retinitis Pigmentosa 89
Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile... OMIM:618955
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Feeding difficulties in... OMIM:160900
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Dysphagia, Achalasia OMIM:615510
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Hepa... ORPHA:97261
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Protein-losing entero... OMIM:619991
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abdominal pain, Zollinger-Ellison syndrome, Stomatitis, Cholelithiasis,... ORPHA:438274
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... OMIM:613812
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... ORPHA:2494
Feingold Syndrome 2
Postnatal growth retardation, Short stature, Intestinal atresia OMIM:614326
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Giant platelet... OMIM:231200
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Gastrointestinal angiodysplasia,... OMIM:193400
Ovarian Fibrothecoma
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality of the ovary ORPHA:314478
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short stature, Cleft palate, Feeding difficulties, Gastroesophageal reflux, Achalasia OMIM:600987
Cirrhosis, Familial
Abdominal distention, Jaundice, Micronodular cirrhosis, Esophageal varix, Biliary cirrhosis, Fulm... OMIM:215600
Glycogen Storage Disease Iv
Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepatic fai... OMIM:232500
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis OMIM:200400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggregat... OMIM:155100
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... ORPHA:90291
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Decreased circulating antibody level, Colitis,... OMIM:615190
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... ORPHA:209964
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Sinus bradycardia, Feeding difficulties, Chronic constipation, Gast... OMIM:619482
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat... ORPHA:367
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Abnormal ... ORPHA:3032
Immunodeficiency 12
Short stature, Skin rash, Esophageal stricture, Bronchiectasis, Cheilitis, Death in adolescence, ... OMIM:615468
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... OMIM:615888
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Noonan Syndrome 7
Short stature, Large for gestational age, Feeding difficulties in infancy, Nasogastric tube feedi... OMIM:613706
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal platelet function, Thrombocytopenia ORPHA:231393
Posterior Column Ataxia With Retinitis Pigmentosa
Achalasia OMIM:609033
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia OMIM:612138
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... ORPHA:228123
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a... OMIM:614201
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Cirrhosis,... OMIM:613490
Genetic Steroid-Resistant Nephrotic Syndrome
Abdominal pain, Peritonitis, Minimal change glomerulonephritis ORPHA:656
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... ORPHA:210122
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Decreased heart rate variability, Feeding difficulties, Chronic constipati... OMIM:209880
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Gastric ulcer, Gastric hypertrophy OMIM:161700
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Esophageal stenosis, Recurrent skin infections, Anal fissure, Esophageal stric... ORPHA:89842
Myositis, Sinusitis, Fasciitis, Maculopapular exanthema, Pneumonia, Osteomyelitis, Keratitis, Abn... ORPHA:228119
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Impaired T cell function, Splenome... OMIM:614576
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Achalasia-Addisonianism-Alacrima Syndrome
Achalasia, Short stature, Orthostatic hypotension OMIM:231550
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde... ORPHA:512
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Diarrhea, J... OMIM:602347
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... OMIM:240300
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Diarrhea, Esophageal va... ORPHA:264580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Short stature, Feeding difficulties, Esophagitis, In... OMIM:615356
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Macrothrombocytopenia, Absence o... OMIM:187900
Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Perito... ORPHA:31204
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Short stature, Perianal... ORPHA:2968
Bronchogenic Cyst
Abnormal peritoneum morphology, Pneumonia, Abnormal stomach morphology, Abdominal pain, Dysphagia... ORPHA:2357
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Celiac disease, Postnatal growth retardation, Increased circulating IgE le... OMIM:618985
Mirizzi Syndrome
Elevated hepatic transaminase, Tachycardia, Abdominal colic, Nausea, Abdominal pain, Anorexia, Pa... ORPHA:521219
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Telangiectasia of the skin, Short stature, Decreased response to growth hormone stimulation test,... OMIM:616007
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis OMIM:616589
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia, Dysphagia OMIM:300858
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Cho... ORPHA:79095
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure,... ORPHA:231222
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil... OMIM:301068
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Small for gestational age, Feeding difficulties in infancy, Bradyca... OMIM:618775
Intellectual Disability-Alacrima-Achalasia Syndrome
Achalasia, Dysphagia ORPHA:289483
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... OMIM:263200
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Failure to thrive, Gastroparesis, Decreased circulating antibody level, Feeding difficulties, Gas... ORPHA:79329
Wiskott-Aldrich Syndrome
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Hypoplas... ORPHA:906
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Malnutrition, Growth delay, Constipatio... OMIM:226600
Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:848
Reynolds Syndrome
Hepatomegaly, Telangiectasia of the skin, Skin rash, Abnormal gastric mucosa morphology, Jaundice... ORPHA:779
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Episodic ab... ORPHA:3166
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Portal hype... ORPHA:480520
Mednik Syndrome
Death in infancy, Jejunal atresia, Diarrhea, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhos... OMIM:609313
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix,... OMIM:216360
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Failure to thrive, Projectile vomiting OMIM:179010
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, ... ORPHA:79303
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal ma... OMIM:243150
Fanconi Anemia, Complementation Group Q
Short stature, Esophageal atresia, Biliary atresia, Anteriorly placed anus, Growth delay, Bone ma... OMIM:615272
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Cryptorchidism, Diarrhea, Abdominal distention, Cholestasis, Prot... OMIM:608104
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... ORPHA:1163
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation, Epistaxis OMIM:609821
Ataxia-Pancytopenia Syndrome
Splenomegaly, Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... OMIM:300048
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Malabsorption, Abdominal pain, Diarrhea... OMIM:226300
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis OMIM:614009
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
Dubin-Johnson Syndrome
Hepatomegaly, Abdominal pain, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnorma... ORPHA:234
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag... OMIM:617443
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... ORPHA:324636
Dyskeratosis Congenita, Autosomal Dominant 2
Short stature, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Hepatic fibrosis, ... OMIM:613989
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Cryptorchidism, Short stature, Abnormal stomach morphology ORPHA:281090
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Short stature, Cryptorchidism, Rectal atresia, Neonatal death, Ana... OMIM:613390
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Small for gestational age, Postnatal growth retardation, Pyloric stenosis, Cryptor... ORPHA:96184
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Autoimmune thromboc... ORPHA:436159
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Eczema, Cirrhosis, Decreased liver function ORPHA:79278
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Osteomyelitis, Pneumonia, Peritonitis, Vomiting, Cirrhosis, Prostatitis ORPHA:1546
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Crusting erythematous dermatitis, Telangiectasia ORPHA:158673
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short stature, Cryptorchidism, Furrowed tongue, High palate, Decreased body weight, Cholelithiasi... OMIM:300534
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Autoimmune thrombocytopenia, S... OMIM:616100
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Triosephosphate Isomerase Deficiency
Death in infancy, Congestive heart failure, Jaundice, Splenomegaly, Death in adolescence, Cholecy... OMIM:615512
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Vomiting, Hepatic fibrosis, Abdominal pain, Hypovolemia, Hepato... ORPHA:275761
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Short stature, Growth delay, Decreased body weight, Cholelithiasis... OMIM:614886
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cel... OMIM:608233
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Giant platelets, Decr... ORPHA:274
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... OMIM:187800
Gray Platelet Syndrome
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... OMIM:139090
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophagea... OMIM:618268
Hereditary Spherocytosis
Hepatomegaly, Maculopapular exanthema, Abdominal pain, Splenomegaly, Jaundice, Abdominal distenti... ORPHA:822
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Intestinal malrotation, Biliary atresia, Feeding di... ORPHA:2255
Cerebrotendinous Xanthomatosis
Angina pectoris, Myocardial infarction, Diarrhea, Pseudobulbar paralysis, Cholelithiasis OMIM:213700
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Abdominal pain, Raynaud phenomenon, Vas... OMIM:615688
22Q11.2 Deletion Syndrome
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Gastroesophageal re... ORPHA:567
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Hypertension, Mitral regurgitation, Hepatic cysts OMIM:173900
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Eczema OMIM:177000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Splenomegaly, Jaundice, Cholecysti... OMIM:613470
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal v... ORPHA:2072
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Plummer-Vinson Syndrome
Tongue atrophy, Poor appetite, Abdominal pain, Cheilitis, Esophageal web, Dysphagia, Glossitis ORPHA:54028
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis ORPHA:846
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Death in early adulthood, Intestinal pseudo-obstruction, Gastroparesis, Cach... OMIM:603041
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Superficial dermal perivascular inflammatory infiltrate, Eczema,... ORPHA:83617
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, Abnormal dense granule content... OMIM:601399
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Intrauterine growth retardation, Esophageal stenosis, Oral leukoplakia OMIM:616553
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... ORPHA:974
Isolated Congenital Alacrima
Keratitis, Lacrimal gland hypoplasia, Achalasia, Conjunctivitis ORPHA:91416
Von Willebrand Disease, Type 3
Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop... OMIM:277480
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Esophageal varix, Pulmonic stenosis, Pulmona... OMIM:616028
Immunodeficiency 17
Death in infancy, Eczema, Chronic diarrhea, Chronic decreased cirulating IgG2, Death in childhood... OMIM:615607
Ectodermal Dysplasia/Short Stature Syndrome
Esophageal stricture, Short stature, Dysphagia OMIM:616029
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... OMIM:175200
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Elevated circulating alanine aminotransferase conc... OMIM:618500
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Short stature, Eczema, Abdominal pain, Celiac disease, Postnatal g... OMIM:212750
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... OMIM:603585
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Synovitis, Hypertension, Arthritis, Serositis ORPHA:567544
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor... ORPHA:2538
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Intrauterine growth retardation, Cholelithiasis OMIM:266200
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Short stature, Intestinal malrotation, Portal hypertension, Small ... OMIM:613658
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Death in infancy OMIM:226730
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short stature, Bilateral cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Neonatal ... OMIM:619859
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Gastric ulcer, Decreased circulating antibody level OMIM:604928
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Recurrent skin infections, Abnormal platelet aggregation OMIM:614171
Septo-Optic Dysplasia Spectrum
Short stature, Anterior pituitary hypoplasia, Esophageal atresia, Cryptorchidism, Tracheoesophage... ORPHA:3157
Blue Rubber Bleb Nevus
Rectal prolapse, Abnormality of the liver, Intestinal bleeding, Volvulus, Intussusception, Thromb... OMIM:112200
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Intestinal malrotation, Biliary atresia, Pulmonic stenosis... OMIM:600001
Non-Syndromic Posterior Hypospadias
Small for gestational age, Esophageal atresia, Cryptorchidism, Cleft palate, Anal atresia ORPHA:95706
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Afibrinogenemia, Congenital
Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Subdural hemorrha... OMIM:202400
Sickle Cell Disease
Hepatomegaly, Abdominal pain, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Cholelith... OMIM:603903
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Bone marrow hypocellularit... OMIM:620133
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Esophageal stricture, Increa... OMIM:615816
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Telangiectasia of the skin, Short st... ORPHA:1775
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Nausea and vom... ORPHA:36426
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Bohring-Opitz Syndrome
Short stature, Feeding difficulties in infancy, Cleft palate, Vomiting, Bradycardia, Severe failu... ORPHA:97297
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Recurrent pneumonia, Cleft palate, Furrowed tongue, Constipation, Pulmonary ... ORPHA:464738
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-induced p... OMIM:153670
Familial Adenomatous Polyposis
Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Goiter, Pituit... ORPHA:733
Urachal Cyst
Peritonitis, Abdominal pain ORPHA:488
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Heart murmur, Cleft palate, Constipation, Aplasia/Hyp... ORPHA:264450
Immunodeficiency 81
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Reduced a... OMIM:619374
Meckel Syndrome, Type 2
Intrauterine growth retardation, Bile duct proliferation, Intestinal malrotation, Cleft palate OMIM:603194
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation, Epistaxis OMIM:614076
Porphyria, Congenital Erythropoietic
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Conjunctiv... OMIM:263700
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Anorexia, Pulmonary emb... ORPHA:394
Trisomy 10P
Absent gallbladder, Small for gestational age, Growth delay, Gastroesophageal reflux, High palate... ORPHA:171929
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Prolonged QRS complex, Decreased response to growth hormone stimul... ORPHA:273
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Short stature, Feeding difficulties in infancy, Submuco... OMIM:617140
Methimazole Embryofetopathy
Esophageal atresia, Tracheoesophageal fistula, Intrauterine growth retardation ORPHA:1923
Abcd Syndrome
Neonatal death, Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis OMIM:600501
Cimdag Syndrome
Death in early adulthood, Hepatomegaly, Microvesicular hepatic steatosis, Feeding difficulties, C... OMIM:619273
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Gout OMIM:232800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Neonatal death, A... OMIM:617925
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Ga... ORPHA:436252
Fanconi Anemia, Complementation Group B
Death in infancy, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growt... OMIM:300514
Quebec Platelet Disorder
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Sickle Cell Anemia
Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Cholestasis, Thrombocytosis ORPHA:232
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Obesity, Cleft palate, Hepatosplenomegaly, Chronic constipation, Cholecystitis, Rec... OMIM:301066
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Noonan Syndrome
Hepatomegaly, Short stature, Feeding difficulties in infancy, Abnormality of the spleen, Cryptorc... ORPHA:648
Feingold Syndrome
Short stature, Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia ORPHA:1305
Progeroid Short Stature With Pigmented Nevi
Short stature, Allergic rhinitis, Impaired T cell function, Small for gestational age, Allergic c... OMIM:176690
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Celiac disease, Ab... ORPHA:186
Fg Syndrome Type 1
Short stature, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Crypt... ORPHA:93932
Recessive Dystrophic Epidermolysis Bullosa Inversa
Growth delay, Esophageal stricture, Gastrointestinal inflammation ORPHA:79409
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis OMIM:235700
Meckel Syndrome, Type 6
Absent gallbladder, Cleft palate, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis... OMIM:612284
Chronic Granulomatous Disease
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Malabsorption, Pyloric stenosis, Splenomegaly, Tr... ORPHA:379
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Hereditary Elliptocytosis
Abdominal pain, Postnatal growth retardation, Splenomegaly, Jaundice, Prolonged neonatal jaundice... ORPHA:288
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:314390
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Abdominal symptom, Short stature, Decreased response to growth hormone sti... ORPHA:79443
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Small for gestational age, High palate, Intrauterine growth retardation, Panc... ORPHA:556955
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Glycogen Storage Disease Xii
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferas... OMIM:611881
Dehydrated Hereditary Stomatocytosis
Abdominal pain, Portal vein thrombosis, Splenomegaly, Intermittent jaundice, Pulmonary venous hyp... ORPHA:3202
Williams Syndrome
Myocardial infarction, Rectal prolapse, Gastroesophageal reflux, Chronic otitis media, Short stat... ORPHA:904
Coffin-Siris Syndrome 11
Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, High palate, Bifid uvula OMIM:618779
Hepatomegaly, Intestinal malrotation, Abnormality of the pancreas, Cryptorchidism, Abnormality of... ORPHA:3376
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Recurrent bacterial skin infections, Skin rash, Epistaxis, Splenom... ORPHA:167
Distal Duplication 5Q
Cryptorchidism, Eczema, Short stature, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules, E... OMIM:614075
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Periodontitis, Dysphagia, Oral le... OMIM:173650
Wilson Disease
Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Elevated circulating aspartate aminotran... OMIM:277900
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Angina pectoris, Short stature, Abnormal large intestine morphology, Cachex... ORPHA:109
Digeorge Syndrome
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, High palate, Gastroesophag... OMIM:188400
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation,... ORPHA:99921
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96092
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Short stature, Cryptorchidism, Heart murmur, Cleft palate, Intracranial hemor... ORPHA:163979
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Esophageal atresia, Tracheoesophageal fistula, Cryptorchidism ORPHA:77298
Cartilage-Hair Hypoplasia
Anal stenosis, Aganglionic megacolon, Absent pubertal growth spurt, Malabsorption, Esophageal atr... OMIM:250250
Benign Schwannoma
Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph... ORPHA:252164
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Short stature, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm o... ORPHA:77293
Spherocytosis, Type 1
Splenomegaly, Jaundice, Cholelithiasis OMIM:182900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Metachromatic Leukodystrophy, Adult Form
Bowel incontinence, Abdominal distention, Cholecystitis, Neoplasm of the gallbladder, Orthostatic... ORPHA:309271
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Epistaxis, Impaired collagen-induced platelet aggregation OMIM:619172
Arima Syndrome
Hepatomegaly, Esophageal varix, Growth delay, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic ... OMIM:243910
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duoden... OMIM:619227
Dyskeratosis Congenita, Autosomal Recessive 1
Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularity, Oral leukoplakia, Thrombocyt... OMIM:224230
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Intermittent ja... ORPHA:100086
Esophageal atresia, Aganglionic megacolon, Tracheoesophageal fistula, Anal atresia ORPHA:59315
Bartter Syndrome, Type 2, Antenatal
Short stature, Small for gestational age, Diarrhea, Low-to-normal blood pressure, Constipation, V... OMIM:241200
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate OMIM:614526
Apert Syndrome
Feeding difficulties in infancy, Esophageal atresia, Cleft palate, Narrow palate, Ovarian neoplas... ORPHA:87
Sitosterolemia 1
Abdominal pain, Splenomegaly, Giant platelets, Arthritis, Impaired platelet aggregation, Thromboc... OMIM:210250
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Transient ischemic attack, Gastroparesis, Proportionate short stature, Failur... ORPHA:500150
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Intrahepatic... OMIM:607330
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Short stature, Esophageal atresia, Gastrointestinal atresia,... ORPHA:391641
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... OMIM:613027
Meckel Syndrome, Type 3
Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... OMIM:607361
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Tetrasomy 9P
Absent gallbladder, Pericarditis, Myositis, Raynaud phenomenon, Cryptorchidism, Jaundice, Biliary... ORPHA:3310
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Epistaxis OMIM:614077
Craniofacioskeletal Syndrome
Absent gallbladder, Short stature, Cryptorchidism, Cleft palate, Intrauterine growth retardation OMIM:300712
Mandibulofacial Dysostosis, Guion-Almeida Type
Feeding difficulties in infancy, Esophageal atresia, Short stature, Cleft palate OMIM:610536
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia, Cleft palate ORPHA:1335
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval, Malar rash, Serositis, Thrombocytopenia ORPHA:231111
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Gastroesophageal reflux, Hepatic fibrosis, Neonatal death, Intrahe... OMIM:619534
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Distal Deletion 12Q
Late onset atopic dermatitis, Short stature, Failure to thrive in infancy, Unilateral cryptorchid... ORPHA:96149
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Tricuspid stenosis, Asplenia, Esophageal atresia, Gastrointest... OMIM:164280
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Feeding difficulties, Prolonged prothrombin time, Bile duct prolif... OMIM:618329
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Intestinal malrotation, Asplenia, Esophageal atresia, Tracheoesophageal ... OMIM:265380
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Large for gestational a... OMIM:229850
Fanconi Anemia, Complementation Group D2
Short stature, Small for gestational age, Esophageal atresia, Cryptorchidism, Tracheoesophageal f... OMIM:227646
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding difficulties, Growth delay, ... OMIM:614083
Congenital Tracheomalacia
Pneumonia, Esophageal atresia, Bronchiectasis, Tracheoesophageal fistula, Feeding difficulties, G... ORPHA:95430
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Peters-Plus Syndrome
Rhizomelia, Bilobate gallbladder, Postnatal growth retardation, Cryptorchidism, Feeding difficult... OMIM:261540
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Trisomy 18
Short stature, Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Growth ... ORPHA:3380
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Esophageal stricture, Dilated cardiomyopathy, Malnutrition,... ORPHA:79404
Ring Chromosome 13 Syndrome
Growth delay, Hypoplasia of the gallbladder, High palate, Anal atresia ORPHA:96176
Apert Syndrome
Acne, Pyloric stenosis, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Rhizomel... OMIM:101200
Steinfeld Syndrome
Absent gallbladder, Bifid uvula, Median cleft lip and palate OMIM:184705
Vacterl With Hydrocephalus
Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Intrauterine growth retardation, A... ORPHA:3412
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention, Microcolon OMIM:619362
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea, Prolonged neonatal jaundice ORPHA:909
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Anal fissure, Glomerulonephritis, Dilated cardiomyopathy, Malnutrition... ORPHA:79408
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Recurrent skin infections, Urinary bladder inflammation, Abdominal distentio... ORPHA:79403
Hyper-Igd Syndrome
Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Diarrhea, Chronic diar... OMIM:260920
Van Esch-O'Driscoll Syndrome
Short stature, Esophageal atresia, Tracheoesophageal fistula, Feeding difficulties, Growth delay,... OMIM:301030
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Meckel Syndrome, Type 4
Intrauterine growth retardation, Bile duct proliferation, Cleft palate OMIM:611134
Meckel Syndrome, Type 5
Bile duct proliferation, Cleft palate OMIM:611561
Microphthalmia, Syndromic 3
Short stature, Anterior pituitary hypoplasia, Postnatal growth retardation, Esophageal atresia, C... OMIM:206900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Polycystic liver disease, Short stature, Pancreatic fibrosis, Pancreatic cysts,... OMIM:208500
Dyskeratosis Congenita, X-Linked
Decreased testicular size, Short stature, Thrombocytopenia, Esophageal stricture, Cryptorchidism,... OMIM:305000
Maternal Phenylketonuria
Esophageal atresia, High palate, Intrauterine growth retardation ORPHA:2209
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Rhizomelia, Short stature, Cholangitis, Splenomegaly... OMIM:613610
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Chole... OMIM:261515
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... OMIM:267010
Gabriele-De Vries Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Oral-pharyngeal... ORPHA:506358
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, High palate, Chronic otitis media, Hepatic... OMIM:619503
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Increased circulating IgG level, Hig... OMIM:619472
Vater/Vacterl Association
Postnatal growth retardation, Esophageal atresia, Tracheoesophageal fistula, Intrauterine growth ... OMIM:192350
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Vomiting, Congenital pyloric atresia ORPHA:158684
Systemic Lupus Erythematosus
Lupus nephritis, Raynaud phenomenon, Discoid lupus rash, Cheilitis, Hypertension, Arthritis, Mala... ORPHA:536
Meckel Syndrome, Type 1
Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Asplenia, Spl... OMIM:249000
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Gastroesop... ORPHA:64
Charge Syndrome
Hypoparathyroidism, Anal stenosis, Decreased response to growth hormone stimulation test, Postnat... OMIM:214800
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Congenital hepatic fibrosis, Cryptorchidism, Abdominal distention, Ectopic an... 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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