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Gene: Rap1gds1 MGI:2385189

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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:
RAP1, GTP-GDP dissociation stimulator 1
Synonyms:
GDS1

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 Rap1gds1 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 Rap1gds1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he... ORPHA:60041
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Cyanosis, Congestive heart failure, Splenomegaly, Hydrops ... ORPHA:2414
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Hyperhidrosis, Abnormalit... ORPHA:860
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar... ORPHA:1209
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Asbestos Intoxication
Cyanosis, Edema, Right ventricular failure, Atelectasis, Pleural thickening, Mediastinal lymphade... ORPHA:2302
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Ragged-red muscle fibers, Left ventri... OMIM:252011
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Optic disc pallor, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgit... OMIM:619167
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... OMIM:614096
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Cerebellar hypoplasia OMIM:615917
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asc... ORPHA:858
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Myopathy ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericar... ORPHA:79126
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Hydro... OMIM:269920
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly... OMIM:235200
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... OMIM:256550
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Hyperhidrosis, Displacement of... ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pu... ORPHA:555874
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition... OMIM:306955
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Absence Of The Pulmonary Artery
Cardiomegaly, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Patent ductu... ORPHA:980
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper ... OMIM:263000
Cirrhotic Cardiomyopathy
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... ORPHA:57777
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges... OMIM:212140
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular f... ORPHA:199241
Transaldolase Deficiency
Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Telangie... ORPHA:101028
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... OMIM:616749
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Lymphedema, Optic atrophy, Abnormal brainstem morpholog... ORPHA:79279
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Abnormal lung lobati... ORPHA:3384
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Abnormal brainstem MRI signal intensity, Congestive hea... ORPHA:444013
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnor... OMIM:618652
Congenital Fibrinogen Deficiency
Decreased testicular size, Tachycardia, Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Left... ORPHA:335
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, Bradycardia, Hypertrophic ca... OMIM:614702
Perching Syndrome
Joint contracture, Cyanosis, Camptodactyly OMIM:617055
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal left ventricu... ORPHA:2041
Mogs-Cdg
Decreased circulating IgG level, Hepatomegaly, Absent brainstem auditory responses, Pulmonary ede... ORPHA:79330
Pulmonary Arteriovenous Malformation
Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Cyanos... ORPHA:2038
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respir... OMIM:619170
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... OMIM:253250
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Cardiomegaly, Recurrent pneumonia, Cerebellar hypoplasia, Vascular skin abnormality ORPHA:3137
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Reduced natu... OMIM:300400
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Cyanosis, Ventricular septal defect, Double outlet right ventric... ORPHA:3426
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficiency anemia, Abnormality ... ORPHA:97214
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Cerebellar calcifications, Splenomegaly, ... OMIM:225750
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothyroi... OMIM:601005
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Optic atrophy, Cardiomegaly ORPHA:391428
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Cyanosis, Dextrocardia, Abnormal hemidiaphragm morphology, Secu... ORPHA:2257
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial s... ORPHA:3304
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Cryptorchidism, ... ORPHA:3427
Ectodermal Dysplasia-Syndactyly Syndrome 2
Hyperhidrosis, Ectodermal dysplasia, Cardiomegaly OMIM:613576
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... OMIM:252920
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens... ORPHA:98913
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... OMIM:600649
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... OMIM:300280
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Microcytic anemia, Congesti... ORPHA:90308
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... OMIM:616897
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Cardiomegaly OMIM:300886
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Heart... ORPHA:99931
Poems Syndrome
Papilledema, Thrombocytosis, Polycythemia, Edema, Pericardial effusion, Primary adrenal insuffici... ORPHA:2905
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return, Webbed neck, Atri... OMIM:617478
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Cyanosis, Conge... ORPHA:99050
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplen... OMIM:232500
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis ORPHA:71277
Cardiac Valvular Dysplasia 1
Edema, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tri... OMIM:212093
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ... OMIM:615415
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Elevated hepatic transaminase, Cardiomegaly OMIM:619064
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cryptorchidism, Heart murmur, Abnormal heart morphology, Acrocyanosis, Decreased testi... ORPHA:1867
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Cerebellar hypoplas... OMIM:618886
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Cardiomegaly, Hepat... ORPHA:465508
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Hepatocellular... OMIM:201475
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Rhabdomyolysis, Ventricular tachycardia, C... ORPHA:159
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat... OMIM:617713
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis ORPHA:2901
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Congenital Tracheomalacia
Cyanosis, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial a... ORPHA:95430
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Hypox... ORPHA:70587
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Vascular skin ... ORPHA:349
High Altitude Pulmonary Edema
Tachycardia, Cyanosis, Leukocytosis, Hypoxemia, Pulmonary edema ORPHA:330012
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Atrial septal defect, Pericardial eff... ORPHA:363705
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Meckel Syndrome 14
Tricuspid regurgitation, Cyanosis, Increased nuchal translucency, Pneumothorax, Oligohydramnios, ... OMIM:619879
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Petechiae, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, T... OMIM:608013
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo... OMIM:617022
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... OMIM:239850
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... OMIM:618986
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Dis... ORPHA:42
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Nonimmune hydrops fetalis, Anemia, Cardiomegaly OMIM:618838
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Cyanotic episode OMIM:610992
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Bilateral cryptorchidism, Congestive heart failure, Dilated cardi... ORPHA:2326
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Cyanosis, Petechiae, Edema, Splenomegaly, Leukocytosis, Thrombocytopen... ORPHA:90051
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... ORPHA:1461
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Mitral valve calcification, Cyanosis, Bronchitis, Right ventricular failure, Increa... ORPHA:60025
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Hepatomegaly, Optic disc pallor, Cyanosis, Skeletal muscle atrophy, Optic neu... OMIM:252010
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy,... ORPHA:370959
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Elevated circulating alanine aminotransferase concentration, Optic atroph... OMIM:261680
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Congestive heart fail... ORPHA:3386
Hereditary Methemoglobinemia
Cerebellar atrophy, Cyanosis, Methemoglobinemia ORPHA:621
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... OMIM:232300
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa... OMIM:208540
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating IgA level, Peritonitis, Vasculit... ORPHA:343
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Reticu... OMIM:618278
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Cardiomegaly, Congestive heart failure, Optic atrophy, Cardiomyopathy, Limb m... OMIM:619259
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis, Acrocyanosis, Camptodactyly of finger ORPHA:896
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Eosinophilia, Edema, Muscular edema, Acrocyanosis ORPHA:3165
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... OMIM:614921
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Respiratory tract infection, Left ventricular outfl... ORPHA:308552
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Limb joint contracture, Ankle flexion contracture, Knee flexion con... ORPHA:284417
Cryptogenic Organizing Pneumonia
Neutrophilia, Cyanosis, Leukocytosis, Pneumothorax, Hypoxemia ORPHA:1302
Familial Aortic Dissection
Aortic regurgitation, Cutis marmorata, Cardiomegaly, Patent ductus arteriosus, Abnormal left vent... ORPHA:229
Congenital Tracheal Stenosis
Cyanosis, Ventricular septal defect, Fetal ascites, Polyhydramnios, Patent ductus arteriosus, Abn... ORPHA:141127
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Primary Intestinal Lymphangiectasia
Lymphopenia, Generalized edema, Peritoneal effusion, Edema, Pericardial effusion, Decreased circu... ORPHA:90362
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Abno... ORPHA:79124
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Acquired Methemoglobinemia
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Tetrasomy 5P
Recurrent respiratory infections, Cyanosis, Congestive heart failure, Aplasia/Hypoplasia of the a... ORPHA:3309
Tarp Syndrome
Extramedullary hematopoiesis, Cyanosis, Cryptorchidism, Optic atrophy, Pulmonary hypoplasia, Cere... ORPHA:2886
Surfactant Metabolism Dysfunction, Pulmonary, 3
Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pattern on pulmonary ... OMIM:610921
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Cerebellar atrophy, Tricuspid regurgitation, Bicuspid aortic valve, Ventric... OMIM:620066
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotensi... OMIM:105210
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... OMIM:231005
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cerebellar vermis hypoplasia, Cardiomegaly, Heart block, Renal tubular epithelial n... ORPHA:228308
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Distal a... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Distal a... ORPHA:98914
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... ORPHA:158687
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Abnormality o... ORPHA:48435
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Anhidrosis, Angiokeratoma, Cardiomegaly, Splenome... OMIM:230000
Surfactant Metabolism Dysfunction, Pulmonary, 2
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Intralobular septal thick... OMIM:610913
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Recurrent pneumonia, Cor pulmonale, Bronchiectas... OMIM:300755
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... ORPHA:1457
Buerger Disease
Acrocyanosis, Vasculitis, Hyperhidrosis ORPHA:36258
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of... ORPHA:221
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Cerebellar hypoplasia, Joint contracture of the 5th finger, Bradycardia, ... OMIM:614407
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Facial palsy, Congestiv... ORPHA:31826
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis, Hyperhidrosis ORPHA:2400
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, Li... OMIM:620306
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Hepatomegaly, Multiple joint contractures, Cardiomegaly, Hypoplasia of the po... OMIM:618143
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent ... OMIM:265120
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent ductus arteriosus, ... ORPHA:96191
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Giant somat... ORPHA:268943
Acquired Purpura Fulminans
Shock, Hepatic failure, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrha... ORPHA:49566
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Chiari Malformation Type Ii
Limb muscle weakness, Cyanosis, Chiari malformation OMIM:207950
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,... OMIM:619991
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Cyanosis, Pneumonia, Intraalveolar... OMIM:610910
Cantú Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cyanosis, Transient ischemic attack, Edema, Cardiomegaly, Pericardial ef... ORPHA:51608
Myasthenia Gravis
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Primary a... ORPHA:589
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Cardiomegaly, Microcytic anemia, Flexion contracture, Premature graying ... OMIM:256040
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Esophageal Atresia
Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Bronchitis, Polyhydramnios... ORPHA:1199
Primary Hyperoxaluria
Elevated hepatic transaminase, Optic disc pallor, Cutis marmorata, Heart block, Raynaud phenomeno... ORPHA:416
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cutis marmorata, Cardiomega... ORPHA:51
Tick-Borne Encephalitis
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal medulla oblongata morphology, Fa... ORPHA:297
Bohring-Opitz Syndrome
Recurrent respiratory infections, Facial hypotonia, Cardiomegaly, Optic atrophy, Bilateral wrist ... ORPHA:97297
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... OMIM:600376
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency OMIM:240200
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Sple... ORPHA:581
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Acrocyanosis, Petechiae ORPHA:51188
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... ORPHA:2331
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Palpebral edema, Recurrent bronchitis, Diastasis recti, Cardi... OMIM:252500
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia, Elevated circulating luteinizing hormone level OMIM:250790
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lymphedema, Lip tela... ORPHA:79280
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Pneumonia, Facial palsy, Abnormal mid... ORPHA:68
Dravet Syndrome
Cyanotic episode ORPHA:33069
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... OMIM:187300
Chronic Pneumonitis Of Infancy
Hypoxemia, Mediastinal lymphadenopathy, Cyanosis ORPHA:91359
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Hepatic steatosis, Cardiomegaly, Ac... ORPHA:14
Familial Dysautonomia
Abnormal peritoneum morphology, Recurrent respiratory infections, Orthostatic hypotension, Tachyc... ORPHA:1764
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Cyanosis, Limb hypertonia OMIM:619580
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopat... OMIM:130650
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Beckwith-Wiedemann Syndrome
Hepatomegaly, Polycythemia, Polyhydramnios, Cardiomegaly, Congenital diaphragmatic hernia, Spleno... ORPHA:116
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Cyanosis, Decreased response to growth hormone stimulation test, A... ORPHA:293987
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Myocardial infarction, Intracranial hemorrhage, Generalized ... ORPHA:740
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation ORPHA:747
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Mitral valve prolapse, Hematochezia, Telangiecta... OMIM:175050
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Episodic hyperhidro... OMIM:223900
Choanal Atresia
Recurrent respiratory infections, Cyanosis ORPHA:137914
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Hyperoxaluria, Primary, Type I
Cutis marmorata, Optic neuropathy, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Atriove... OMIM:259900
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Cryptorchidism, Increased nuchal translu... ORPHA:3472
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Arterial rupture, Mitra... ORPHA:287
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... ORPHA:904
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... OMIM:610655
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Congestive heart fail... OMIM:182250
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Recurrent lower respiratory tract infections, Cyanosis OMIM:618426
Pitt-Hopkins Syndrome
Cryptorchidism, Acrocyanosis, Aganglionic megacolon, Supernumerary nipple ORPHA:2896
Myasthenic Syndrome, Congenital, 21, Presynaptic
Weakness of facial musculature, Cyanosis, Knee flexion contracture OMIM:617239
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Optic neuropathy, Tendon xanthomato... ORPHA:391665
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar flu... OMIM:233450
Friedreich Ataxia 2
Abnormal EKG, Abnormal medulla oblongata morphology, Congestive heart failure, Concentric hypertr... OMIM:601992
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Brain ab... ORPHA:2929
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Cystocele, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:285
Coffin-Lowry Syndrome
Mitral regurgitation, Acrocyanosis, Cutis marmorata OMIM:303600

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 Rap1gds1

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 Rap1gds1.

No publications found that use IMPC mice or data for Rap1gds1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Rap1gds1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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