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Gene: Gucy1b1 MGI:1860604

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
guanylate cyclase 1, soluble, beta 1
Synonyms:
beta 1 sGC,  Gucy1b3

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
phenotypes		 Matching phenotypes Source
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Gastroparesis, Megaduo... OMIM:611376
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst... ORPHA:343
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain ORPHA:168811
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Achalasia, Raynaud phenomenon, Thrombocytopenia, Dysphagia OMIM:615750
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Immunodeficiency 70
Decreased circulating total IgG, Recurrent sinusitis, Colitis, Achalasia, Furuncle, Decreased cir... OMIM:618969
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi... ORPHA:679
Shigellosis
Cholestasis, Anorexia, Abdominal pain, Intestinal perforation, Bloody mucoid diarrhea, Failure to... ORPHA:810
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Glanzmann Thrombasthenia 1
Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-IIIa, Subdural hemorr... OMIM:273800
American Trypanosomiasis
Diarrhea, Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Infectious encephali... ORPHA:3386
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP... OMIM:618462
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Uveitis, Congestive heart failure, ... ORPHA:727
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Vomiting, Failure to thrive, Keratitis, Nasogastric tube feeding, Aspira... ORPHA:1018
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Short stature, I... OMIM:211600
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulati... OMIM:615952
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Bloody diarrhea, Acute colitis, Myocardial infarction, Peritonitis, Pancreati... ORPHA:90038
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Achalasia ORPHA:3239
Cyclic Neutropenia
Periodontitis, Otitis media, Peritonitis, Enterocolitis, Perianal abscess, Thrombocytopenia, Sinu... ORPHA:2686
Achalasia-Microcephaly Syndrome
Achalasia, Growth delay ORPHA:929
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Lactose int... ORPHA:411696
Necrotizing Enterocolitis
Hypotension, Diarrhea, Vomiting, Hypoactive bowel sounds, Bloody diarrhea, Shock, Bradycardia, Pe... ORPHA:391673
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Nausea and vomiting, Cryptorchidism, Death in infancy, Abnorm... ORPHA:2241
Familial Mediterranean Fever
Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Arrhythmia, Abdomin... ORPHA:342
Tetrasomy 18P
Syncope, Achalasia ORPHA:3307
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Splenomegaly, Intestinal obstruct... ORPHA:32960
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
High-Grade Dysplasia In Patients With Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction ORPHA:231080
Scleromyxedema
Gastroesophageal reflux, Paraproteinemia, Transient ischemic attack, Abnormality of the gastroint... ORPHA:167635
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Cryptorchidism, Hypertension, Pulmonary arterial hypertension, Hypoperist... OMIM:613834
Mirage Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Decreased testicular size, Intrauterine growth ret... OMIM:617053
Bacterial Toxic-Shock Syndrome
Diarrhea, Glomerulonephritis, Abdominal pain, Tachycardia, Recurrent skin infections, Shock, Oste... ORPHA:36234
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Cachexia, Weight loss, Prostatiti... ORPHA:2552
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea, Villous atrophy, Death in infancy, Abnormal intestine morpholo... OMIM:251850
Zygomycosis
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Abdominal pain, Endocarditis, Ga... ORPHA:73263
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induc... OMIM:619267
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss, Constipation, Abdominal distention, Abdominal pain ORPHA:168816
Caroli Disease
Cholestasis, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Weight loss,... ORPHA:53035
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Deafness, Congenital, With Vitiligo And Achalasia
Short stature, Achalasia OMIM:221350
Mitchell-Riley Syndrome
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Meckel diverticulum, Anteriorly placed anus, C... OMIM:615710
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Achalasia, Short stature ORPHA:436174
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,... OMIM:601346
Triple A Syndrome
Short stature, Achalasia, Anterior hypopituitarism ORPHA:869
Dystonia-Deafness Syndrome 1
Pseudobulbar paralysis, Achalasia, Dysphagia, Small for gestational age, Cleft palate OMIM:607371
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Hepatic fibrosis, Bone marrow hypocellularity, Gastrointestinal hemorrhage, Intrauterine growth r... OMIM:617341
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Achalasia, Short stature, Macroglossia, Dysphagia ORPHA:79107
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Microcolon, Ileal atresia, Pyelonephritis, Peritonitis, Abdominal distention... OMIM:619351
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Splenomegaly, Chronic constipation, Orchitis, Crohn's disease, Ep... OMIM:249100
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic diarrhea, Fat malabsorption ORPHA:309108
Portal Hypertension, Noncirrhotic, 1
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat... OMIM:617068
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Peritonitis, Mesenteric cyst, Abdominal distention, Ab... ORPHA:314473
Stuve-Wiedemann Syndrome 2
Eczematoid dermatitis, Congestive heart failure, Intrauterine growth retardation, Neonatal death,... OMIM:619751
Meier-Gorlin Syndrome 7
Anal stenosis, Second degree atrioventricular block, Anteriorly placed anus, Duodenal stenosis, B... OMIM:617063
Listeriosis
Diarrhea, Arteritis, Pustule, Abdominal pain, Jaundice, Endocarditis, Osteomyelitis, Peritonitis,... ORPHA:533
Ppoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97278
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, ... ORPHA:75234
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation... ORPHA:30391
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Joint hemorrhage, Impaired platelet aggregation OMIM:605735
Familial Mediterranean Fever, Autosomal Dominant
Abdominal pain, Peritonitis, Erysipelas OMIM:134610
Idiopathic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Pulmonary embolism, Peritonitis, Abdominal pain, Growth delay ORPHA:567548
Small Bowel Atresia
Vomiting, Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Jejunal atr... ORPHA:1201
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, He... OMIM:278000
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced... OMIM:173590
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ... OMIM:618955
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c... OMIM:619463
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Cholelithiasis, Vomiting, Atopic dermatitis, Failure to thrive in infancy, Ost... ORPHA:171876
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Cachexia, Abdominal distention,... ORPHA:75233
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, Feeding difficulties in infancy, First degree atrioventricular bl... OMIM:160900
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Achalasia, Orthostatic hypotension, Esophageal stenosis, Dysphagia, Feeding difficulties OMIM:615510
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge... OMIM:619991
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Vomiting, Failure to thrive, Abnormal intestine morphology, Feeding difficulties in inf... OMIM:606528
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... ORPHA:157798
Grfoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97261
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Gastroesophageal reflux, Achalasia, Short stature, Cleft palate, Feeding difficulties OMIM:600987
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, I... OMIM:193400
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in... OMIM:231200
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Intestinal atresia OMIM:614326
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Ovarian Fibrothecoma
Abnormality of the ovary, Ovarian fibroma, Peritonitis, Abdominal distention, Abdominal pain ORPHA:314478
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Pulmonary arterial hypertension, Abdominal ... OMIM:215600
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep... OMIM:613812
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Impaired ADP-induced platelet aggregation, Myocardial infarction, Thr... OMIM:155100
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Chronic consti... OMIM:619482
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Gastrointestinal angiodyspla... ORPHA:903
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation, Colit... OMIM:615190
Achalasia, Familial Esophageal
Rheumatoid arthritis, Xerostomia, Achalasia, Keratoconjunctivitis sicca OMIM:200400
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ... ORPHA:79301
Solitary Rectal Ulcer Syndrome
Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Chronic constipation, Decreased body weigh... ORPHA:209964
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,... ORPHA:367
Systemic Sclerosis
Intestinal bleeding, Telangiectasia, Glomerulonephritis, Recurrent skin infections, Dysphagia, Bo... ORPHA:90291
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephri... OMIM:615888
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnorm... ORPHA:3032
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... OMIM:615237
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Coccidioidomycosis
Pneumonia, Vasculitis, Vasospasm, Folliculitis, Abnormality of the spleen, Abnormality of the liv... ORPHA:228123
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death OMIM:612138
Glycogen Storage Disease Iv
Hepatic failure, Failure to thrive, Cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Cirr... OMIM:232500
Immunodeficiency 12
Bronchiectasis, Recurrent aphthous stomatitis, Complete or near-complete absence of specific anti... OMIM:615468
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Abnormal platelet count, Impaired ristocetin-induced platelet aggregation, Impaired co... OMIM:614201
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Gastrointestinal carcinoma, Pancre... ORPHA:2869
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Thrombocytopenia ORPHA:231393
Posterior Column Ataxia With Retinitis Pigmentosa
Achalasia OMIM:609033
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ... OMIM:613490
Noonan Syndrome 7
Growth delay, Hypertrophic cardiomyopathy, Large for gestational age, Feeding difficulties in inf... OMIM:613706
Genetic Steroid-Resistant Nephrotic Syndrome
Abdominal pain, Peritonitis, Minimal change glomerulonephritis ORPHA:656
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormal rectum morphology, Hypertension, Episodic abdominal pain, H... ORPHA:251992
Fusariosis
Pneumonia, Keratitis, Fasciitis, Abnormality of the spleen, Abnormality of the liver, Osteomyelit... ORPHA:228119
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Gastroesophageal reflux, Growth delay, Failure to thrive, Dilated cardiomyopathy, Malnutrition, E... ORPHA:89842
Central Hypoventilation Syndrome, Congenital, 1
Ineffective esophageal peristalsis, Decreased heart rate variability, Chronic constipation, Agang... OMIM:209880
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer, Arthritis OMIM:161700
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Abs... ORPHA:210122
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Metachromatic Leukodystrophy
Abnormal stomach morphology, Gastrostomy tube feeding in infancy, Abnormal duodenum morphology, A... ORPHA:512
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... OMIM:620367
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Dec... OMIM:614576
Achalasia-Addisonianism-Alacrima Syndrome
Short stature, Achalasia, Orthostatic hypotension OMIM:231550
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Gastrointestinal hemorrhage, Prolonged bleeding... ORPHA:849
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Esophag... OMIM:615356
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... OMIM:614009
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Esophageal varix,... ORPHA:774
Nocardiosis
Thyroiditis, Pneumonia, Vomiting, Lymphadenitis, Cutaneous abscess, Keratitis, Osteomyelitis, Inf... ORPHA:31204
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Absence of alpha granules, Thrombocytopenia, Macrothrombo... OMIM:187900
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis, Neonatal death OMIM:619817
Bronchogenic Cyst
Pneumonia, Abnormal stomach morphology, Abnormal esophagus morphology, Abnormal peritoneum morpho... ORPHA:2357
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... ORPHA:2978
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Vomiting, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopath... OMIM:620646
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczematoid dermatitis, Increased circulating IgE level, Postnatal growth retardation, Delayed pub... OMIM:618985
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Telangiectasia of the skin, Achalasia, Ker... OMIM:616007
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Vomiting, Abdominal dist... ORPHA:521219
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Adams-Oliver Syndrome 6
Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix OMIM:616589
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Glomerulonephritis, Recurrent... ORPHA:2968
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Glucocorticoid Deficiency 2
Recurrent pneumonia, Achalasia, Bilateral cryptorchidism OMIM:607398
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora... OMIM:277320
Intellectual Disability-Alacrima-Achalasia Syndrome
Achalasia, Dysphagia ORPHA:289483
Mgat2-Cdg
Decreased circulating IgG level, Gastroesophageal reflux, Failure to thrive, Gastroparesis, Gastr... ORPHA:79329
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Neonatal... OMIM:263200
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Arrhythmia, Abnormal platelet morphology, Chronic otitis med... ORPHA:906
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Persistent fetal ci... OMIM:618775
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Congenital Tufting Enteropathy
Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest... ORPHA:92050
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Growth delay, Malnutrition, Abnormal esophagus morphology, Constipation, Spontaneous esophageal p... OMIM:226600
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, Splenomeg... ORPHA:231222
Sialuria
High, narrow palate, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:3166
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... ORPHA:1163
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:848
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... OMIM:301068
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Skin rash, Infectious en... ORPHA:779
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
Mednik Syndrome
Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Death in childhood, Death in infan... OMIM:609313
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Chol... OMIM:608104
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, K... OMIM:240300
Coach Syndrome 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Intrahepatic bile duct... OMIM:216360
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He... ORPHA:480520
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia OMIM:300858
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Intrauteri... OMIM:243150
Pyloric Stenosis, Infantile Hypertrophic, 1
Failure to thrive, Projectile vomiting, Pyloric stenosis OMIM:179010
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Anteriorly placed anus, Biliary atresia, Esophageal atresia, Short s... OMIM:615272
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma... OMIM:620486
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Growth delay, Hypersplenism, Hepatosplenomeg... ORPHA:77259
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Impaired ADP-induced platelet aggregation OMIM:609821
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Vomiting, Intestinal pseudo-obstruction, ... OMIM:300048
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function, Splenomegaly ORPHA:2585
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Vomiting, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Malabs... OMIM:226300
Gcgr-Related Hyperglucagonemia
Abdominal pain, Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Dubin-Johnson Syndrome
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abdomina... ORPHA:234
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Testicular seminoma, Short stature, Cryptorchidism ORPHA:281090
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Epistaxis, Intracran... ORPHA:324636
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Duodenal ulcer, Gastric ulcer, Impaired platelet aggregation OMIM:618372
Fanconi Anemia, Complementation Group O
Cryptorchidism, Death in infancy, Neonatal death, Rectal atresia, Short stature, Anal atresia, Mi... OMIM:613390
Bleeding Disorder, Platelet-Type, 21
Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregation, Thromb... OMIM:617443
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Celiac disease, Steatorrhea, Por... ORPHA:186
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Recurrent otitis media, Postnatal growth retardation, Obesity, Intrauterine growth r... ORPHA:96184
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Bone marrow hypocellularity, Dilated cardiomyopathy, Failure to thrive, Oral le... OMIM:613989
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Nausea and vomiting... ORPHA:44890
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Eczematoid dermatitis, Decreased liver function ORPHA:79278
Wolfram Syndrome 2
Peptic ulcer, Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Diarrhe... ORPHA:436159
Mhc Class Ii Deficiency 1
Cutaneous anergy, Failure to thrive, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia,... OMIM:209920
Cryptococcosis
Pneumonia, Vomiting, Osteomyelitis, Peritonitis, Cirrhosis, Prostatitis ORPHA:1546
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Failure to thrive, Decreased testicular size, Furrowed tongue, Cryptorchidism, De... OMIM:300534
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Telangiectasia, Crusting erythematous dermatitis, Esophageal stricture ORPHA:158673
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Macrothr... OMIM:187800
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Spontaneou... ORPHA:274
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function OMIM:614156
Triosephosphate Isomerase Deficiency
Cholelithiasis, Failure to thrive, Congestive heart failure, Cholecystitis, Splenomegaly, Death i... OMIM:615512
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Lysosomal Acid Lipase Deficiency
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Fatal liver failure in infancy,... ORPHA:275761
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Decreas... OMIM:614886
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Gastroesophageal reflux, Periodontitis, Enlarged platelet dense granules, Re... OMIM:608233
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Decreased c... OMIM:616100
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Gray Platelet Syndrome
Epistaxis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Spl... OMIM:139090
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... OMIM:617394
Hereditary Spherocytosis
Cholelithiasis, Restrictive cardiomyopathy, Gout, Splenomegaly, Abdominal pain, Abdominal distent... ORPHA:822
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie... OMIM:618268
Hermansky-Pudlak Syndrome 6
Epistaxis, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:614075
Cerebrotendinous Xanthomatosis
Cholelithiasis, Diarrhea, Pseudobulbar paralysis, Angina pectoris, Myocardial infarction OMIM:213700
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Pancreatic hypoplasia, Failure to thrive, Exocrine pancreatic insuff... ORPHA:2255
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Eczematoid dermatitis, Hepatic failure OMIM:177000
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Splenomegaly OMIM:224100
Immunodeficiency 17
Anoperineal fistula, Failure to thrive, Eczematoid dermatitis, Chronic decreased circulating IgG2... OMIM:615607
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Colonic diverticula, Hypertension, Hepatic cysts OMIM:173900
22Q11.2 Deletion Syndrome
Cryptorchidism, Feeding difficulties in infancy, Hypoparathyroidism, Anal atresia, Bowel incontin... ORPHA:567
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Hepatosplenomegaly, Erythema nodosum, Hepatomegaly, Abdominal pain, Esoph... OMIM:615688
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice, Impaired neutrophil ba... OMIM:613470
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho... OMIM:208540
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration OMIM:300752
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno... ORPHA:2072
Ileal Neuroendocrine Tumor
Arrhythmia, Weight loss, Abnormal bowel sounds, Functional intestinal obstruction, Right ventricu... ORPHA:100078
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Intrauterine growth retardation, Oral leukoplakia, Esophageal stenosis OMIM:616553
Plummer-Vinson Syndrome
Tongue atrophy, Esophageal web, Abdominal pain, Glossitis, Cheilitis, Dysphagia, Poor appetite ORPHA:54028
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Failure to thrive, Eczematoid dermatitis, Postnatal growth... ORPHA:83617
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Von Willebrand Disease, Type 3
Epistaxis, Thrombocytopenia, Impaired platelet aggregation, Joint hemorrhage, Prolonged bleeding ... OMIM:277480
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonic stenosis, Pulmonary arterial hypert... OMIM:616028
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Portal hypertension, Congenital hepatic fibrosis,... ORPHA:974
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Synovitis, Glomerulonephritis, Arthritis, Hypertension, Serositis ORPHA:567544
Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration OMIM:614266
Ectodermal Dysplasia/Short Stature Syndrome
Short stature, Dysphagia, Esophageal stricture OMIM:616029
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense granule content... OMIM:601399
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia, Death in infancy OMIM:226730
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Bloody diarrhea, Ovarian cyst, ... OMIM:175200
Recessive Dystrophic Epidermolysis Bullosa Inversa
Growth delay, Gastrointestinal inflammation, Esophageal stricture ORPHA:79409
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopenia,... OMIM:603585
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Absent gallbladder, Neonatal ... OMIM:618500
Celiac Disease, Susceptibility To, 1
Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Abdominal d... OMIM:212750
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Abnormality of ... ORPHA:2538
Non-Syndromic Posterior Hypospadias
Cryptorchidism, Esophageal atresia, Anal atresia, Small for gestational age, Cleft palate ORPHA:95706
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Afibrinogenemia, Congenital
Epistaxis, Subdural hemorrhage, Death in childhood, Death in infancy, Neonatal death, Death in ad... OMIM:202400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Small for gestational age, Failure to th... OMIM:613658
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice OMIM:266200
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Abnormality of the liver, Thrombocytopenia, Rectal prolapse, Intus... OMIM:112200
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Failure to thrive, Intussusception, Duodenal adenocarcinoma, Multiple gas... OMIM:174900
Immunodeficiency 23
Allergic rhinitis, Failure to thrive, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, I... OMIM:615816
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Benign Schwannoma
Abnormal esophagus morphology, Abnormality of the liver, Intestinal polyposis, Abnormal parotid g... ORPHA:252164
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating hepatic transaminase concentration, Diarrhea, Abdominal distention, Right ve... ORPHA:100085
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Diarrhea, A... ORPHA:36426
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Abdominal pain, Hepatomegaly, Jaundice, Hyperte... OMIM:603903
Septo-Optic Dysplasia Spectrum
Obesity, Cryptorchidism, Tracheoesophageal fistula, Constipation, Esophageal atresia, Anterior pi... ORPHA:3157
Phosphoribosylaminoimidazole Carboxylase Deficiency
Bilateral cryptorchidism, Neonatal death, Tracheoesophageal fistula, Esophageal atresia, Short st... OMIM:619859
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Pancreatic hypoplasia, Failure to thrive, Intestinal malrotation, ... OMIM:600001
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Oral leukoplakia, Intrauterine ... OMIM:620133
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-related pep... OMIM:153670
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Cholelithiasis, Recurrent pneumonia, Furrowed tongue, Pulmonary arterial hyp... ORPHA:464738
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hypertrophic car... ORPHA:309854
Bohring-Opitz Syndrome
Cholelithiasis, Vomiting, Annular pancreas, Intrauterine growth retardation, Severe failure to th... ORPHA:97297
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Urachal Cyst
Abdominal pain, Peritonitis ORPHA:488
Alpha-Thalassemia
Cholelithiasis, Congestive heart failure, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice ORPHA:846
Immunodeficiency 81
Skin rash, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced... OMIM:619374
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of ... ORPHA:264450
Dyskeratosis Congenita
Bone marrow hypocellularity, Hepatic failure, Blepharitis, Periodontitis, Oral leukoplakia, Intra... ORPHA:1775
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Abnormality of the spleen, Postnatal growth retardatio... ORPHA:648
Hermansky-Pudlak Syndrome 7
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Bile duct proliferation, Cleft palate OMIM:603194
Abcd Syndrome
Aganglionic megacolon, Large for gestational age, Total intestinal aganglionosis, Neonatal death OMIM:600501
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Splenomegaly, Deat... ORPHA:355
Zttk Syndrome
Aortic regurgitation, Bifid uvula, Failure to thrive, Intrauterine growth retardation, Absent gal... OMIM:617140
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pulmonary e... ORPHA:394
Trisomy 10P
Gastroesophageal reflux, Growth delay, Intrauterine growth retardation, Absent gallbladder, High ... ORPHA:171929
Quebec Platelet Disorder
Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Steinert Myotonic Dystrophy
Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding difficulties in infan... ORPHA:273
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Jejunoileal ulceration, Rectal abscess, Intestinal malrotation, In... ORPHA:436252
Methimazole Embryofetopathy
Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Porphyria, Congenital Erythropoietic
Cholelithiasis, Conjunctivitis, Splenomegaly, Thrombocytopenia, Increased fecal coproporphyrin 1,... OMIM:263700
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hamartoma of tongue, Absent gallbladder, Neonatal death, Anal atresia, Esophageal diverticulum, C... OMIM:617925
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Allergic rhinitis, Vomiting, Impaired T cell function, Allergic conjunctiv... OMIM:176690
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Death in infancy, Tracheoesophageal fistula, Esophageal atresia,... OMIM:300514
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Cimdag Syndrome
Cholelithiasis, Death in early adulthood, Microvesicular hepatic steatosis, Hepatomegaly, Feeding... OMIM:619273
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Gout OMIM:232800
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran... ORPHA:562639
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Recurrent otitis media, Hepatosplenomegaly, Obesity, Cholecystitis, Chronic const... OMIM:301066
Fg Syndrome Type 1
Small pituitary gland, Gastroesophageal reflux, Abnormal large intestine morphology, Slender buil... ORPHA:93932
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Feingold Syndrome
Annular pancreas, Abnormality of the spleen, Esophageal atresia, Short stature, Duodenal atresia ORPHA:1305
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis OMIM:235700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... ORPHA:209902
Hermansky-Pudlak Syndrome 5
Epistaxis, Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocyto... OMIM:614074
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cleft palate, Cysti... OMIM:612284
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Hepatosplenomegaly, Abnormal intestine morphology... ORPHA:391487
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Osteomyelitis,... ORPHA:232
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Tracheoesophageal fistula, Esophageal atresia, Neonatal death OMIM:314390
Coffin-Siris Syndrome 11
Bifid uvula, Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, High palate OMIM:618779
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Oral leukoplakia, Intrauterine growth r... OMIM:613990
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Decreased response to growth hormone stimulation test, O... ORPHA:79443
Chronic Graft Versus Host Disease
Diarrhea, Xerostomia, Elevated circulating hepatic transaminase concentration, Gastroesophageal r... ORPHA:99921
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Pancreatic Agenesis-Holoprosencephaly Syndrome
Intrauterine growth retardation, Absent gallbladder, High palate, Small for gestational age, Panc... ORPHA:556955
Williams Syndrome
Death in early adulthood, Nausea and vomiting, Cryptorchidism, Mitral regurgitation, Polycystic o... ORPHA:904
Triploidy
Intestinal malrotation, Abnormality of the gallbladder, Intrauterine growth retardation, Cryptorc... ORPHA:3376
Glycogen Storage Disease Xii
Cholelithiasis, Cholecystitis, Splenomegaly, Elevated circulating alanine aminotransferase concen... OMIM:611881
Distal Duplication 5Q
Short stature, Aplasia/Hypoplasia of the gallbladder, Eczematoid dermatitis, Cryptorchidism ORPHA:96097
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Splenomegaly, Pulmonary venous hypertension, Intermittent jaundice, Portal vein t... ORPHA:3202
Kindler Syndrome
Anal stenosis, Periodontitis, Oral leukoplakia, Telangiectasia of the skin, Dysphagia, Esophageal... OMIM:173650
Chédiak-Higashi Syndrome
Epistaxis, Abnormality of neutrophil physiology, Elevated circulating hepatic transaminase concen... ORPHA:167
Digeorge Syndrome
Recurrent otitis media, Hepatic steatosis, Ovarian cyst, High palate, High, narrow palate, Cholel... OMIM:188400
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Abnormal large intestine morphology, Intestinal polyposis, Telangiectasia, Angina ... ORPHA:109
Hereditary Elliptocytosis
Cholelithiasis, Postnatal growth retardation, Splenomegaly, Abdominal pain, Prolonged neonatal ja... ORPHA:288
Familial Adenomatous Polyposis
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Stomach canc... ORPHA:733
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96092
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Thrombocytopenia, Short stature, Heart murmur, Intracranial h... ORPHA:163979
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia, Cryptorchidism, Growth delay ORPHA:77298
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Failure to thrive, Bronchiectasis, Exocrine pan... OMIM:219700
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Interstitial pneumoniti... ORPHA:77293
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Splenomegaly OMIM:182900
Hermansky-Pudlak Syndrome 11
Epistaxis, Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia OMIM:614526
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Hypertension, Cirrhosis, Hepatomegaly, Growth delay, Esophag... OMIM:243910
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Short stature, Duoden... OMIM:619227
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Bone marrow hypocellularity, Oral leukoplakia, Thrombocytopenia, Esophageal str... OMIM:224230
Sitosterolemia 1
Giant platelets, Splenomegaly, Thrombocytopenia, Impaired platelet aggregation, Arthritis, Abdomi... OMIM:210250
Bartter Syndrome, Type 2, Antenatal
Vomiting, Diarrhea, Failure to thrive, Constipation, Impaired platelet aggregation, Short stature... OMIM:241200
Apert Syndrome
Bifid uvula, Feeding difficulties in infancy, Ectopic anus, Esophageal atresia, Narrow palate, Ov... ORPHA:87
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Bifid uvula, Gastroesophageal reflux, Failure to thrive in infan... ORPHA:500150
Rhombencephalosynapsis
Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Esophageal atresia ORPHA:59315
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Anorexia, Cholecystitis, Intermittent jaundice, Biliary tract obstruction... ORPHA:100086
Cartilage-Hair Hypoplasia
Neonatal short-limb short stature, Absent pubertal growth spurt, Anal stenosis, Malabsorption, Ag... OMIM:250250
Feingold Syndrome Type 1
Nephritis, Jejunal atresia, Anal atresia, Esophageal atresia, Gastrointestinal atresia, Short sta... ORPHA:391641
Wilson Disease
Hepatic failure, Portal fibrosis, Vomiting, Acute hepatic failure, Elevated circulating aspartate... OMIM:277900
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... OMIM:613027
Tetrasomy 9P
Bifid uvula, Intrauterine growth retardation, Absent gallbladder, Cryptorchidism, Median cleft pa... ORPHA:3310
Hermansky-Pudlak Syndrome 8
Epistaxis, Impaired platelet aggregation OMIM:614077
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatomegaly, Bile duct proliferation... OMIM:607361
Mandibulofacial Dysostosis, Guion-Almeida Type
Short stature, Feeding difficulties in infancy, Esophageal atresia, Cleft palate OMIM:610536
Craniofacioskeletal Syndrome
Intrauterine growth retardation, Absent gallbladder, Cryptorchidism, Short stature, Cleft palate OMIM:300712
Drug-Induced Lupus Erythematosus
Malar rash, Thrombocytopenia, Prolonged QTc interval, Pericarditis, Serositis ORPHA:231111
Pentalogy Of Cantrell
Cleft palate, Absent gallbladder, Polysplenia ORPHA:1335
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cholestasis, Congenital hepatic fibrosis, Neonatal death, Cirrhosis, Elevated circulating alanine... OMIM:619534
Distal Deletion 12Q
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Failure to thrive in infa... ORPHA:96149
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop... OMIM:164280
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Orthostatic hypotension due to autonomic dysfunction, Abdominal distention, Neopla... ORPHA:309271
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:618329
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase conce... OMIM:607330
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Annular pancreas, Meckel diverticulum, Right-to-left shunt,... OMIM:265380
Fryns Syndrome
Meckel diverticulum, Polysplenia, Intestinal malrotation, Large for gestational age, Cryptorchidi... OMIM:229850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Microcolon, Abdominal distention OMIM:619362
Congenital Tracheomalacia
Pneumonia, Gastroesophageal reflux, Failure to thrive, Tracheoesophageal fistula, Esophageal atre... ORPHA:95430
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, High-output c... OMIM:187300
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Cryptorchidism, Tracheoesophageal fistula, Esophag... OMIM:227646
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Intrauterine growth retardation, Tracheoesophageal fistula, Esophage... OMIM:614083
Peters-Plus Syndrome
Rhizomelia, Disproportionate short-limb short stature, Anteriorly placed anus, Postnatal growth r... OMIM:261540
Trisomy 18
Narrow palate, Intrauterine growth retardation, Cryptorchidism, Cachexia, Esophageal atresia, Sho... ORPHA:3380
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Vomiting, Dilated cardiomyopathy, Failure to thrive, Malnutrition, Pyoderma, Constipat... ORPHA:79404
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation OMIM:300835
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastroesophageal reflux, Growth delay, Dilated cardiomyopathy, Malnutrition, Anal fissure, Ankylo... ORPHA:79408
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Ring Chromosome 13 Syndrome
High palate, Anal atresia, Growth delay, Hypoplasia of the gallbladder ORPHA:96176
Apert Syndrome
Bifid uvula, Rhizomelic arm shortening, Cryptorchidism, Ectopic anus, Esophageal atresia, Narrow ... OMIM:101200
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Abnormality of the an... ORPHA:2908
Alkaptonuria
Aortic valve stenosis, Black pigment gallstones, Mitral regurgitation, Mitral stenosis, Prostatit... ORPHA:56
Vacterl With Hydrocephalus
Intrauterine growth retardation, Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, A... ORPHA:3412
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Cholelithiasis, Chronic diarrhea ORPHA:909
Steinfeld Syndrome
Bifid uvula, Absent gallbladder, Median cleft palate OMIM:184705
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Congenital pyloric atresia, Nausea and vomiting, Intestinal atresia... ORPHA:79403
Neurofibroma
Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract... ORPHA:252183
Hyper-Igd Syndrome
Diarrhea, Vomiting, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Skin rash, Increased circula... OMIM:260920
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Increased hepat... OMIM:619525
Van Esch-O'Driscoll Syndrome
Bifid uvula, Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, Shor... OMIM:301030
Meckel Syndrome, Type 4
Intrauterine growth retardation, Bile duct proliferation, Cleft palate OMIM:611134
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Oral leukoplakia, Decreased testicular size, Intrauterine growth ret... OMIM:305000
Microphthalmia, Syndromic 3
Postnatal growth retardation, Cryptorchidism, Esophageal atresia, Anterior pituitary hypoplasia, ... OMIM:206900
Meckel Syndrome, Type 5
Bile duct proliferation, Cleft palate OMIM:611561
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Nephritis, Death in infancy, Pulmonary insufficiency, Bile duct proliferation, ... OMIM:208500
Cranioectodermal Dysplasia 2
Rhizomelia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cir... OMIM:613610
Maternal Phenylketonuria
Intrauterine growth retardation, Esophageal atresia, High palate ORPHA:2209
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Hepatic ... OMIM:261515
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, P... OMIM:267010
Systemic Lupus Erythematosus
Discoid lupus rash, Malar rash, Weight loss, Lupus nephritis, Raynaud phenomenon, Thrombocytopeni... ORPHA:536
Gabriele-De Vries Syndrome
Oral-pharyngeal dysphagia, Decreased response to growth hormone stimulation test, Breast hypoplas... ORPHA:506358
Viss Syndrome
Increased circulating IgE level, Cleft soft palate, Chronic constipation, Abdominal distention, C... OMIM:619472
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Recurrent otitis media, Hepatosplenomegaly, Cleft soft palate, Hepatic steatosis, Cr... OMIM:619503
Vater/Vacterl Association
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Tracheoesophage... OMIM:192350
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Congenital pyloric atresia, Abdominal distention ORPHA:158684
Alström Syndrome
Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Glomer... ORPHA:64
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Intestinal malrotation, Intrauterine ... OMIM:249000
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, Micronodular ... OMIM:203700
Charge Syndrome
Anal stenosis, Parathyroid hypoplasia, Decreased response to growth hormone stimulation test, Pos... OMIM:214800
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Disproportionate short-limb short stature, Cryptorchidism, Congenital hepatic fibrosis, Ectopic a... ORPHA:93271
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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.

Order Mouse and ES Cells

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

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

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