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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Ethanolaminosis
Cardiomegaly OMIM:227150
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Congenital Pulmonary Lymphangiectasia
Cyanosis, Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Pleural effusion... ORPHA:2414
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal... ORPHA:860
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Tricuspid Atresia
Cyanosis, Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Hypoplasia of right vent... ORPHA:1209
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Asbestos Intoxication
Cyanosis, Myocardial fibrosis, Pleural thickening, Hypoxemia, Oxygen desaturation on exertion, Lu... ORPHA:2302
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Elevated hepatic transaminase, Ascites, Cardiome... ORPHA:858
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy, Low-output congestive heart failure, Myopathy ORPHA:91130
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic cardiomyopathy, Hepatomegaly, Rig... OMIM:115197
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Oligohydramnios, Hepatomegaly, Myopathy, Cardiomyopathy, Elevated hepatic transam... OMIM:617713
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Cyanosis, Patent foramen ovale, Systolic heart murmur, Congestive heart... ORPHA:439
Cyanosis, Transient Neonatal
Cyanosis, Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Congestive heart failure, Ascites, Bacterial endocarditis, Jaundice,... ORPHA:615
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, As... OMIM:269920
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Telangiectasia, Splenomegaly, Hepatomegaly, Pleural effusio... OMIM:235200
Acute Interstitial Pneumonia
Cyanosis, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Peripheral edema, Pleural effusio... ORPHA:79126
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Increased variability in muscle fiber diameter, Abnormal Z disc morphol... OMIM:618654
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Neuraminidase Deficiency
Vacuolated lymphocytes, Skeletal muscle atrophy, Hydrops fetalis, Splenomegaly, Hepatomegaly, Bon... OMIM:256550
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Cyanosis, Patent foramen o... ORPHA:555874
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Abnormal pulmonary ve... ORPHA:199241
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension... OMIM:261740
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Desquamat... OMIM:263000
Absence Of The Pulmonary Artery
Atrial fibrillation, Pedal edema, Cardiomegaly, Abnormal hemidiaphragm morphology, Pulmonary edem... ORPHA:980
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Generalized amyotrophy, Hypertrophic cardiomyopathy, Hepatomegaly,... ORPHA:79279
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Patent ductus arteriosus, Aortic regur... OMIM:616501
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Cerebellar hypoplasia, Dextroc... OMIM:306955
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Anemia, Pre... ORPHA:101028
Truncus Arteriosus
Pulmonary artery hypoplasia, Ventricular septal defect, Abnormal lung lobation, Cardiomegaly, Hyp... ORPHA:3384
Timothy Syndrome
Tetralogy of Fallot, Hypothyroidism, Pneumonia, Patent foramen ovale, Patent ductus arteriosus, P... OMIM:601005
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Cyanosis And Hepatic Disease
Cyanosis, Hepatitis, Abnormal abdomen morphology OMIM:219400
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Abnormal cerebellum morphol... OMIM:618652
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Reduced ejection fraction, Arrhythmia, Congesti... ORPHA:85451
Cirrhotic Cardiomyopathy
Right atrial enlargement, Third heart sound, Ascites, Cardiomegaly, Left ventricular hypertrophy,... ORPHA:57777
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, ... ORPHA:444013
Coronary Arterial Fistula
Pedal edema, Cardiomegaly, Patent foramen ovale, Patent ductus arteriosus, Congestive heart failu... ORPHA:2041
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Congestive heart failure, Reduced muscle carnitine... OMIM:212140
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Cyanosis, Bruising susceptibility, Splenic rupture, Internal hemorrhage... ORPHA:335
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspi... OMIM:616749
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Hypoxemia, Bacterial endocarditis, Pulmonary hemorrhage, Ischemic stroke, My... ORPHA:2038
Mogs-Cdg
Decreased circulating IgG level, Hypothyroidism, Decreased circulating total IgM, Hepatosplenomeg... ORPHA:79330
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Vascular skin abnormality, Cerebellar hypoplasia, Lymphedema, Cardiomegaly ORPHA:3137
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hydrops fetalis, Hepatomegaly, Ascites, Recur... OMIM:253250
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Attrv30M Amyloidosis
Arrhythmia, Abnormal autonomic nervous system physiology, Cardiomyopathy, Atrioventricular block,... ORPHA:85447
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Right atrial enlargement, T lymphocytopenia, Endocardial fibroelastosis, Noni... OMIM:619313
Double Outlet Right Ventricle
Cyanosis, Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Hypoplastic left... ORPHA:3426
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Eisenmenger Syndrome
Right-to-left shunt, Hypoxemia, Left-to-right shunt, Increased pulmonary vascular resistance, Rig... ORPHA:97214
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Optic disc pallor, Recurrent lower res... OMIM:619170
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cholestasis, Oligohydramnios, Hypertrophic cardiomyopathy, Hepatomegaly, Pulmoni... OMIM:615415
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, T lymphocytopenia, Pneumonia, Decreased cir... OMIM:300400
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Tetralogy of Fallot, Patent ductus arteriosus, Cryptorchidism, Atrial... ORPHA:3304
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Klippel-Trénaunay Syndrome
Microcytic anemia, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestina... ORPHA:90308
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Generalized amyotrophy, Hyper... OMIM:300257
Hsd10 Disease, Infantile Type
Cyanosis, Cardiomegaly, Hypertrophic cardiomyopathy, Optic atrophy ORPHA:391428
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Petechiae, Cerebellar calcifications, Purpura, Erythema, Splenomegaly, Hepatomega... OMIM:225750
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Ectodermal dysplasia, Hyperhidrosis OMIM:613576
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Congestive heart failure OMIM:300886
Histiocytoid Cardiomyopathy
Cyanosis, Cerebellar malformation, Shortened PR interval, Atrial flutter, Polycystic ovaries, Con... ORPHA:137675
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Splenomegaly, Hepatomegaly, Asymmetric septal hyper... OMIM:252920
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Hydrops fetalis, Ventricular septal defect, Hypoplasia of the thymus, Cardiomeg... OMIM:617022
Sick Sinus Syndrome 2
Sinus bradycardia, Left ventricular noncompaction, Ventricular fibrillation, Cardiac arrest, Aort... OMIM:163800
Postsynaptic Congenital Myasthenic Syndromes
Weakness of the intrinsic hand muscles, Cyanosis, Abnormality of the musculature of the upper lim... ORPHA:98913
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Thrombocytosis, Ascites, Visceromegaly, Pleural ef... ORPHA:2905
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Portal hypertension, Cirrhosis, Arrhythmia, Congestive heart failure, Cholangioca... ORPHA:465508
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Flexion contracture, Cerebellar hypoplasia, Hydrops fetalis, Hypertrophic cardiomyop... OMIM:616897
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Hepatomegaly, Elevated hepatic transaminase, Car... OMIM:600649
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Prolonged QT interval, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Primary Pulmonary Hypoplasia
Cyanosis, Hypoxemia, Dextrocardia, Recurrent respiratory infections, Pneumothorax, Secundum atria... ORPHA:2257
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cryptorchidism, Abnormal heart morphology, Heart murmur, Acrocyanosis, Decreased testi... ORPHA:1867
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HRCT, Hepatomegal... ORPHA:99931
Glycogen Storage Disease Iv
Hepatic failure, Hepatosplenomegaly, Portal hypertension, Skeletal muscle atrophy, Hydrops fetali... OMIM:232500
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Webbed neck, Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, Atrial sept... OMIM:617478
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cerebellar hypoplasia, Anemia, Hypertension, Cerebral hemorrhage, Ca... OMIM:618886
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Abnormal erythrocyte morphology ORPHA:71277
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, A... ORPHA:99050
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Reduced ejection fraction, Periportal fibrosis, Hypertrophic cardiomyopathy, S... OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Elevated hepatic transaminase, Hepatomegaly OMIM:619064
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Macroglossia, Ventricular septal defect, Mitral regurgitation, Cardi... ORPHA:363705
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hepatic failure, Rhabdomyolysis, Ventricular tachycardia, Arrhythmia, Hypotension, Hepa... ORPHA:159
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Orthostatic hypotension, Skeletal muscle atrophy, Abnormal autonomic nervous system phy... OMIM:252320
Fucosidosis
Hypothyroidism, Vascular skin abnormality, Abnormality of the gallbladder, Hepatomegaly, Acrocyan... ORPHA:349
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging ORPHA:2901
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Petechiae, Purpura, Nonimmune hydrops fetalis, Splenomegaly,... OMIM:608013
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Hypoxemia, Splenomegaly, Hepa... OMIM:603903
Pulmonary Alveolar Microlithiasis
Cyanosis, Testicular microlithiasis, Pleural thickening, Hypoxemia, Oxygen desaturation on exerti... ORPHA:60025
Congenital Tracheomalacia
Emphysema, Cyanosis, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Pneumonia... ORPHA:95430
Cantu Syndrome
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Lymphedema, Bicuspid aortic v... OMIM:239850
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Dilated cardiomyopathy, Aortic regurgitation, Pulmonary artery hypoplasia, Pulmonary in... ORPHA:2326
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circle lev... OMIM:618986
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Criss-Cross Heart
Cyanosis, Abnormal mitral valve morphology, Tricuspid stenosis, Supravalvular aortic stenosis, Pu... ORPHA:1461
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Cyanosis, Right ventricular dilatation, Pneumonia, Unroofed coronary si... ORPHA:99104
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Anemia, Cardiomegaly, Decreased circulating cortisol level OMIM:618838
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Distal arthrogryposis, Arrhythmia, Skeletal muscle atrophy, Decreased liver fu... ORPHA:42
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Recurrent intrapulmonary hemorrhage, Myositis, Abnormal pericardium morphology, Cut... ORPHA:183
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Ventricular septal defect, Cardiomegaly, Decreased response to growth hormone stim... OMIM:602782
Infant Acute Respiratory Distress Syndrome
Cyanosis, Cardiac arrest, Pneumonia, Hypoxemia, Hypotension, Respiratory tract infection, Bradyca... ORPHA:70587
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Myocarditis, Aganglionic megaco... ORPHA:3386
Sepsis In Premature Infants
Cyanosis, Petechiae, Leukocytosis, Purpura, Splenomegaly, Hepatomegaly, Decreased liver function,... ORPHA:90051
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced ejection fraction, Lower limb muscle weakness, P... ORPHA:268
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Arrhythmia, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly OMIM:255120
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Cerebral edema, Cerebellar atrophy, Hepatic failure, Skeletal muscle atrophy, Ragged-re... OMIM:252010
Breath-Holding Spells
Cyanosis, Iron deficiency anemia OMIM:607578
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Congenital Muscular Dystrophy With Cerebellar Involvement
Congenital muscular dystrophy, Dilated fourth ventricle, Hypoglycosylation of alpha-dystroglycan,... ORPHA:370959
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Decreased circulating IgG level, Hepatosplenomegaly, Leukocytos... OMIM:618278
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Peripheral edema, Abnormal left ventricu... ORPHA:75249
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Peritonitis, Increased circulating IgA level, Erythema, Urticaria, H... ORPHA:343
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Congestive heart failure, Increased hepatic glycogen content, Limb muscle wea... OMIM:619259
Fucosidosis
Flexion contracture, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Angiokeratoma, Macroglos... OMIM:230000
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Pineal cyst, Patent foramen ovale, Patent ductus arteriosus, Cryp... OMIM:300967
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Recurrent upper respiratory tract infections, Decreased proporti... ORPHA:169154
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Contracture... ORPHA:324410
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Biliary cirrhosis, Pancreatic cysts, Patent ductus arteriosus, Bile duct prolife... OMIM:208540
Glycogen Storage Disease Ii
Shortened PR interval, Firm muscles, Wolff-Parkinson-White syndrome, Splenomegaly, Hepatomegaly, ... OMIM:232300
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Ventricular hypertrophy, Cardiomega... OMIM:619051
Cholesterol Pneumonia
Cyanosis, Pneumonia OMIM:215030
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatic steatosis, Rhabdomyolysis, Elevated circulating alanine aminotran... OMIM:614921
Eosinophilic Fasciitis
Eosinophilia, Myositis, Abnormal eosinophil morphology, Muscular edema, Acrocyanosis, Edema ORPHA:3165
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Abnormal auto... OMIM:105210
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Cardiomegaly OMIM:266500
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Hepatic steatosis, Hepatic failure, Hepatomegaly, Optic atrophy OMIM:261680
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Histiocytosis, Absent natural kil... ORPHA:2442
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Hypohidrosis, Skeletal muscle atrophy, Hepatomegaly,... OMIM:268800
Lymphatic Malformation 6
Chylothorax, Webbed neck, Hypothyroidism, Atrial septal defect, Nonimmune hydrops fetalis, Spleno... OMIM:616843
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Congenital Tracheal Stenosis
Cyanosis, Patent ductus arteriosus, Hypoplastic left heart, Polyhydramnios, Pulmonary artery atre... ORPHA:141127
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Anemia, Lymphedema, Edema, Pericar... OMIM:617300
Apnea, Central Sleep
Cyanosis OMIM:207720
Familial Aortic Dissection
Cutis marmorata, Aortic regurgitation, Abnormal left ventricular function, Patent ductus arterios... ORPHA:229
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Elevated circulating alanine aminotransferase concentration, Shortened PR interval, Facial hypoto... ORPHA:308552
Atrioventricular Septal Defect 3
Midsystolic murmur, Cyanosis, Congestive heart failure, First degree atrioventricular block, Pulm... OMIM:600309
Cryptogenic Organizing Pneumonia
Cyanosis, Leukocytosis, Hypoxemia, Neutrophilia, Pneumothorax ORPHA:1302
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Port... ORPHA:79124
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of CD3-pos... ORPHA:90362
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomega... OMIM:231005
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Arrhythmia, Palpitations, Syncope, Tachycardia, Methemoglobinemia ORPHA:464453
Tarp Syndrome
Cyanosis, Tetralogy of Fallot, Cryptorchidism, Atrial septal defect, Cerebellar hypoplasia, Optic... ORPHA:2886
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Paraseptal emphysema, Nonspecific interstitial pneumonia, Reticular pattern on pulmonar... OMIM:610921
Tetrasomy 5P
Cyanosis, Congestive heart failure, Cerebellar hypoplasia, Pulmonary arterial hypertension, Recur... ORPHA:3309
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Elevated circulating alanine aminotransferase concentrat... OMIM:608836
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Ankle flexion contracture, Knee flexion contracture, Limb joint contracture, Ce... ORPHA:284417
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatic steatosis, Hepatic failure, Arrhythmia, Hepatomegaly, Hea... ORPHA:228308
Aorta Coarctation
Cardiomegaly, Tetralogy of Fallot, Patent ductus arteriosus, Congestive heart failure, Pulmonary ... ORPHA:1457
Congenital Myasthenic Syndrome
Cyanosis, Limb-girdle muscle weakness, EMG: myopathic abnormalities, Recurrent respiratory infect... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Limb-girdle muscle weakness, EMG: myopathic abnormalities, Recurrent respiratory infect... ORPHA:98914
Postinfectious Vasculitis
Vasculitis in the skin, Viral hepatitis, Raynaud phenomenon, Pneumonia, Cutis marmorata, Orchitis... ORPHA:48435
Waardenburg Syndrome Type 3
Atrial septal defect, Camptodactyly of finger, Acrocyanosis ORPHA:896
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy, Camptodactyly of toe, Cardi... ORPHA:158687
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, T lymphocytopenia, Decreased circulating Ig... OMIM:300755
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Recurrent pneumonia, Nonspecific interstitial pneumonia, Hypoxemia, Intraalveolar phosp... OMIM:610913
Dermatomyositis
Inflammatory myopathy, Sinus tachycardia, Arrhythmia, Cutaneous photosensitivity, Lung adenocarci... ORPHA:221
Ethylene Glycol Poisoning
Cyanosis, Cerebral edema, Congestive heart failure, Hypotension, Atrial fibrillation, Hypertensio... ORPHA:31826
Mucolipidosis Ii Alpha/Beta
Recurrent pneumonia, Aortic regurgitation, Diastasis recti, Congestive heart failure, Hypertrophi... OMIM:252500
Buerger Disease
Acrocyanosis, Vasculitis, Hyperhidrosis ORPHA:36258
Paternal Uniparental Disomy Of Chromosome 6
Patent ductus arteriosus, Cryptorchidism, Hepatomegaly, Macroglossia, Ventricular septal defect, ... ORPHA:96191
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Multiple joint contractures, Cerebellar vermis atrophy, Cryptorchidism, Hepat... OMIM:618143
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Hyperhidrosis, Skeletal muscle atrophy ORPHA:2400
Arnold-Chiari Malformation Type Ii
Cyanosis, Hand muscle atrophy, Pneumonia, Upper limb muscle weakness, Brain stem compression, Aqu... ORPHA:1136
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumul... OMIM:265120
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Cerebellar hypoplasia, Joint contracture of the 5th finger, Atrioventricular block, Bradycardia, ... OMIM:614407
Unilateral Polymicrogyria
Cyanosis, Abnormal heart morphology, Pulmonary arteriovenous malformation, Giant somatosensory ev... ORPHA:268943
Hereditary Methemoglobinemia
Cyanosis, Methemoglobinemia, Cerebellar atrophy ORPHA:621
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Progeroid facial appearance, Macroglossia, Cardiomegaly, Thrombocytopenia, Rec... OMIM:256040
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid accumulation, Recurrent ... OMIM:610910
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Oligohydramnios, Generalized edema ORPHA:255249
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Patent ductus arteriosus ORPHA:1517
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Thrombocytopenia, Intracranial hemorrhage, Acrocyanosis, Shock,... ORPHA:49566
Craniofaciofrontodigital Syndrome
Cardiomegaly, Palmoplantar cutis laxa, Abnormal heart morphology, Ecchymosis OMIM:114620
Chiari Malformation Type Ii
Cyanosis, Chiari malformation, Limb muscle weakness OMIM:207950
Beck-Fahrner Syndrome
Facial hypotonia, Cardiomegaly, Ventricular septal defect OMIM:618798
Myasthenia Gravis
Primary adrenal insufficiency, Myositis, Acrocyanosis, Hashimoto thyroiditis, Hyperthyroidism, He... ORPHA:589
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Bruising susceptibility, Cutis marmorata, Aortic regurgitation, Patent ductus arteri... ORPHA:91387
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Cyanosis, Weak pulse, Myocardial calcification, Retinal he... ORPHA:51608
Tick-Borne Encephalitis
Abnormal myocardium morphology, Leukocytosis, Leukopenia, Abnormal cranial nerve morphology, Skel... ORPHA:297
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Bohring-Opitz Syndrome
Cholelithiasis, Facial hypotonia, Bradycardia, Bilateral wrist flexion contracture, Congenital co... ORPHA:97297
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Flexion contracture, Reduced ejection fraction, Abnormal mitral v... ORPHA:581
Esophageal Atresia
Cyanosis, Tetralogy of Fallot, Recurrent respiratory infections, Polyhydramnios, Ventricular sept... ORPHA:1199
Aicardi-Goutières Syndrome
Raynaud phenomenon, Hypothyroidism, Myositis, Hepatosplenomegaly, Multiple joint contractures, Cu... ORPHA:51
Amoebiasis Due To Free-Living Amoebae
Cerebral edema, Abnormal pons morphology, Pneumonia, Arrhythmia, Abnormal midbrain morphology, Re... ORPHA:68
Primary Hyperoxaluria
Cutis marmorata, Heart block, Optic disc pallor, Cardiomyopathy, Elevated hepatic transaminase, A... ORPHA:416
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Lip telangiectasia, Telangiectasia of the skin, Lymphedema, An... ORPHA:79280
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating alanine aminotransferase concentration, Flexion contracture, Facial hypotoni... ORPHA:365
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nail bed telangiectasia, Hepatic arteriovenous malformation, Anemia, Gastrointestinal telangiecta... OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Hypoxemia, Nail bed telangiectasia, Hepatic arteriovenous malformati... OMIM:187300
Abetalipoproteinemia
Distal lower limb muscle weakness, Hepatic steatosis, Hypothyroidism, Cirrhosis, Congestive heart... ORPHA:14
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Acrocyanosis, Petechiae ORPHA:51188
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia OMIM:250790
Chronic Pneumonitis Of Infancy
Cyanosis, Mediastinal lymphadenopathy, Hypoxemia ORPHA:91359
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency OMIM:240200
Familial Dysautonomia
Orthostatic hypotension, Hypohidrosis, Abnormal pleura morphology, Recurrent respiratory infectio... ORPHA:1764
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Cyanosis, Recurrent upper respiratory tract ... ORPHA:293987
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatoblastoma, Diastasis recti, Cryptorchidism, Pancreatic hyperplasia, Hepatom... OMIM:130650
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Cerebellar atrophy, Limb hypertonia OMIM:619580
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Mucosal telangiectasiae, Thenar muscle atrophy, Hypoplasia of the musc... ORPHA:2463
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Enlarged kidney, Hepatoblastoma, Pseudohypoparathyroidism, Hyp... ORPHA:116
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Abnormal mitral valve morphology, Abnormal aortic valve mo... ORPHA:740
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Webbed neck, Patent foramen ovale, Atrial septal defect, Congenital diaphragmatic hernia, Bicuspi... OMIM:245600
Dravet Syndrome
Cyanotic episode ORPHA:33069
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Laryngotracheoesophageal Cleft
Cyanosis, Recurrent respiratory infections ORPHA:2004
Rare Circulatory System Disease
Intermittent claudication, Elbow flexion contracture, Cyanosis ORPHA:98028
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Intraalveolar phospholipid accumulation, Crazy paving pattern, Hypoxemia ORPHA:747
Visceral Steatosis, Congenital
Neonatal death, Hepatic steatosis, Myocardial steatosis, Jaundice OMIM:228100
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Hepatic arteriovenous malformation, Anemia, Pulmonary arteriovenous malformation, M... OMIM:175050
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Episodic hyperhidrosis, Hypertension, Acrocyanosis, Tachycardia, Recurre... OMIM:223900
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Choanal Atresia
Cyanosis, Recurrent respiratory infections ORPHA:137914
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Yunis-Varon Syndrome
Tetralogy of Fallot, Cryptorchidism, Atrial septal defect, Hydrops fetalis, Cerebellar hypoplasia... ORPHA:3472
Williams Syndrome
Hypothyroidism, Prematurely aged appearance, Cryptorchidism, Macroglossia, Hypertension, Ventricu... ORPHA:904
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Orthostatic hypotension, Ecchymosis, Prematurely aged appearance, Blepha... ORPHA:287
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Weakness of the intrinsic hand muscles, Muscular subvalvular aortic stenosis, Foot dorsiflexor we... OMIM:302900
Friedreich Ataxia And Congenital Glaucoma
Muscular subvalvular aortic stenosis, Congestive heart failure, Decreased amplitude of sensory ac... OMIM:229310
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, High-output congestive heart failure, Spontaneous, recurrent epistaxis, Conjunctival te... OMIM:610655
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Abnormal tendon morphology, Abnormal left ventricular function, Optic neuropat... ORPHA:391665
Hyperoxaluria, Primary, Type I
Cutis marmorata, Optic neuropathy, Atrioventricular block, Acrocyanosis, Intermittent claudicatio... OMIM:259900
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Congestive heart failure, Abnormal echocardiogram, Abnormal... OMIM:601992
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Subvalvular aortic stenosis, Tendon rupture, Congestive heart failure, Cuta... OMIM:182250
Pitt-Hopkins Syndrome
Cryptorchidism, Acrocyanosis, Supernumerary nipple, Aganglionic megacolon ORPHA:2896
Goodpasture Syndrome
Cyanosis, Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Anemia, Hemosiderin-laden ma... OMIM:233450
Juvenile Polyposis Syndrome
Anasarca, Hematochezia, Gastrointestinal hemorrhage, Mucosal telangiectasiae, Extrahepatic portal... ORPHA:2929
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia, Tendon rupture, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdomi... ORPHA:285
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
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.

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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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