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Gene: Klf5 MGI:1338056

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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:
Kruppel-like transcription factor 5
Synonyms:
4930520J07Rik,  IKLF,  Bteb2,  CKLF

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 Klf5 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 Klf5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Diarrhea 9
Villous atrophy OMIM:618168
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... OMIM:135580
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology, Hypovolemia ORPHA:2290
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... OMIM:617638
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao... ORPHA:229
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... ORPHA:3400
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Moyamoya Disease 1
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia OMIM:252350
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... OMIM:300635
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Hematochezia, Protein-losing enteropathy, Vascular dilata... OMIM:277175
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Enterocolitis, Diffuse alveolar hemorrhage OMIM:616050
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Tachycardia, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Villous atrophy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Left ventricular outflow tract obstruction, Tetralogy of Fallot, Coarctati... OMIM:615779
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Immunodeficiency 70
Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... OMIM:619281
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Anterior uveitis, Colitis, Skin rash OMIM:616744
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... OMIM:115197
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... ORPHA:860
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, High palate, Bifid uvula OMIM:601110
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... ORPHA:90362
Refractory Celiac Disease
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption ORPHA:398063
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis OMIM:614602
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Ascending aortic dissection, High palate, Aortic t... OMIM:616166
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Netherton Syndrome
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia OMIM:256500
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, Congestive heart failure, Esophageal car... ORPHA:391487
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis OMIM:614878
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... OMIM:618780
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis, Malabsorption OMIM:209920
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricular outflow... ORPHA:99050
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... OMIM:616433
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Aortic Valve Disease 2
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... OMIM:614823
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... OMIM:175050
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Abnormal aortic morphology, Intestinal atresia ORPHA:3405
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Pericarditis, Stroke-like episode, Cardiomyopathy, Steatorrhea OMIM:212065
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdo... ORPHA:91387
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... OMIM:613854
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus OMIM:304790
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... OMIM:301074
Syndromic Diarrhea
Aortic regurgitation, Villous atrophy, Gastritis, Patent ductus arteriosus, Colitis, Hepatoblasto... ORPHA:84064
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... ORPHA:2001
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... OMIM:614700
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... OMIM:300048
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Aorta Coarctation
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... ORPHA:1457
Partial Atrioventricular Septal Defect
Atrial flutter, Angina pectoris, Transient ischemic attack, Patent ductus arteriosus, Tetralogy o... ORPHA:1330
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption ORPHA:100025
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Palpitations, Mitral steno... ORPHA:2847
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Double Outlet Right Ventricle
Tachycardia, Intestinal malrotation, Submucous cleft hard palate, Double outlet right ventricle, ... ORPHA:3426
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time OMIM:619377
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... ORPHA:911
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Shigellosis
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Uveitis, B... ORPHA:810
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Congestive heart failure, Cardiomegaly OMIM:269920
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Villous atrophy, Pulmonic stenosis, Tetralogy of Fallot, Bifid uvula OMIM:222470
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Methimazole Embryofetopathy
Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Coarctation of aorta ORPHA:1923
Pyoderma Gangrenosum
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine ORPHA:48104
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu... ORPHA:449400
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Perianal ... OMIM:619573
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy OMIM:606367
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc... OMIM:212140
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... ORPHA:324964
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Immunodeficiency 31C
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception OMIM:614162
Mungan Syndrome
Tricuspid regurgitation, Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Pulmo... OMIM:611376
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia OMIM:618999
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... OMIM:235200
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... OMIM:300280
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Immunodeficiency 97 With Autoinflammation
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot... OMIM:619802
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... ORPHA:98813
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Portal hypertension ORPHA:567983
Alg9-Cdg
Villous atrophy, Tricuspid regurgitation, Gastroesophageal reflux, Abnormal renal artery morpholo... ORPHA:79328
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... OMIM:620294
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology ORPHA:1166
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Alg1-Cdg
Abnormality of the gastrointestinal tract, Cardiomyopathy, Protein-losing enteropathy ORPHA:79327
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... ORPHA:2070
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly OMIM:266500
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia OMIM:301220
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Scimitar Syndrome
Left-to-right shunt, Anomalous origin of left coronary artery from the pulmonary artery, Heart bl... ORPHA:185
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease, Vascul... OMIM:619381
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Steatorrhea OMIM:557000
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Pyloric stenosi... ORPHA:3342
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Truncus arteriosus, Abnormal aortic morphology, Cleft palate ORPHA:2516
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Cardiac Diverticulum
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul... ORPHA:1686
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... ORPHA:90038
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:256550
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e... ORPHA:540
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... ORPHA:2929
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... OMIM:115470
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp... OMIM:201475
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly ORPHA:99931
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... ORPHA:309031
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... ORPHA:392
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Mpi-Cdg
Gastrointestinal hemorrhage, Protein-losing enteropathy, Portal hypertension ORPHA:79319
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Arterial Tortuosity Syndrome
Aortic regurgitation, Carotid artery dissection, Hiatus hernia, Pulmonary artery stenosis, Hypert... OMIM:208050
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly ORPHA:42
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... OMIM:617718
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... ORPHA:308552
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... ORPHA:980
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix OMIM:614576
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic arch aneurysm, Heart murmur, Coarctation of aorta, Hypertension, Asc... ORPHA:402075
Congenital Tracheal Stenosis
Abnormal stomach morphology, Ascending aorta hypoplasia, Patent ductus arteriosus, Tracheoesophag... ORPHA:141127
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Esophageal atresia, Patent ductus arteriosus, Pulmonary artery stenosis, Pulmonary lymphangiectas... OMIM:265380
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Pulmonary artery stenosis, Abnormal aortic morphology, High palate, Tra... ORPHA:251071
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... OMIM:615710
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Abnormal aortic arch morphology, Cleft palate, Ect... ORPHA:2059
Sepsis In Premature Infants
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... ORPHA:90051
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... ORPHA:268
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure, Cardiomy... ORPHA:465508
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory... ORPHA:544482
Diabetic Embryopathy
Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology, Transposition of the great arterie... ORPHA:1926
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... OMIM:615895
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i... ORPHA:3260
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Intestinal malrotation, Patent ductus arteriosus, Partial anomalous p... OMIM:270100
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly ORPHA:158687
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint... ORPHA:99867
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... OMIM:619708
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Cardiomegaly OMIM:619259
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... OMIM:618213
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Precocious atherosclerosis, Abnorma... ORPHA:391665
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Plague
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... ORPHA:707
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly OMIM:603903
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Hepatocellular adenoma, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Inflammat... ORPHA:79259
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly OMIM:268800
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... ORPHA:3261
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Abdominal pain, C... ORPHA:171
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Loeys-Dietz Syndrome
Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, High palate, Aortic dissection, Ar... ORPHA:60030
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Aortic regurgitation, Cleft palate, Coarctation of aorta, Abnormal aortic m... ORPHA:1052
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Glycogen Storage Disease Ib
Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma, Pancrea... OMIM:232220
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Transposition of the... OMIM:208530
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... ORPHA:906
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly OMIM:620306
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Wiskott-Aldrich Syndrome
Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Ulcerative colitis, Melena,... OMIM:301000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Arrhythmia, Enlarged kidney, Antenatal intrac... OMIM:608836
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Mitral valve prolapse, Hepat... OMIM:602782
Glycogen Storage Disease Ic
Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... OMIM:232240
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Meacham Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Conotruncal defect, Coarctation of a... ORPHA:3097
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Alport Syndrome
Renal glomerular foam cells, Hypertension, Abnormal aortic morphology, Dysphagia, Aortic aneurysm ORPHA:63
Fumarase Deficiency
Necrotizing enterocolitis, Hepatic failure, High palate OMIM:606812
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
2Q37 Microdeletion Syndrome
Pyloric stenosis, Abnormal aortic morphology ORPHA:1001
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, High palate, Abdominal aortic aneurysm, Bifid uvula, Eosinophilic inf... OMIM:613795
Fanconi Anemia
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Patent ductus arteriosus, Tracheoesophage... ORPHA:84
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial tortuosity, Patent ductus arteriosus, Cleft p... ORPHA:284984
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Tetralogy ... OMIM:600460
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Mucosal telangiectasiae, Cardiomegaly ORPHA:2463
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... ORPHA:365
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Heart m... OMIM:252500
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti... ORPHA:581
Holoprosencephaly
Intestinal atresia, Abnormal aortic morphology, Gastroesophageal reflux, Arrhythmia, Tetralogy of... ORPHA:2162
Sarcoidosis, Susceptibility To, 1
Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine,... OMIM:181000
Fucosidosis
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Pulmonary arterial hyp... ORPHA:2396
Pagod Syndrome
Sudden cardiac death, Pulmonary artery hypoplasia, Abnormal aortic morphology, Arrhythmia, Abnorm... ORPHA:991
Ogden Syndrome
Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal... OMIM:300855
Whim Syndrome
Abnormal small intestine morphology, Tetralogy of Fallot, Parotitis ORPHA:51636
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Turner Syndrome Due To Structural X Chromosome Anomalies
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99413
Turner Syndrome
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:881
Mosaic Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99228
Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99226
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly ORPHA:97297
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Abetalipoproteinemia
Hepatomegaly, Congestive heart failure, Cardiomegaly ORPHA:14
Mucopolysaccharidosis Type 2, Severe Form
Peripheral arterial stenosis, Heart murmur, Macroglossia, Hypertension, Cardiomyopathy, Abnormal ... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Peripheral arterial stenosis, Heart murmur, Macroglossia, Hypertension, Cardiomyopathy, Abnormal ... ORPHA:217093
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Esophageal varix, Hypertens... ORPHA:731
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Ectopic anus, Abnormal aortic morphology, Bifid tongue, Ankyloglossia ORPHA:1507
Mucopolysaccharidosis Type 2
Peripheral arterial stenosis, Macroglossia, Hypertension, Cardiomyopathy, Abnormal aortic morphol... ORPHA:580
Aicardi-Goutières Syndrome
Raynaud phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... ORPHA:2152
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... ORPHA:3472
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Arrhythmia OMIM:256040
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... ORPHA:51608
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... ORPHA:116
Igg4-Related Kidney Disease
Sialadenitis, Abnormal aortic morphology, Arteritis, Pericarditis ORPHA:449395
Fraser Syndrome 1
Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... OMIM:182250

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 Klf5

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 Klf5.

No publications found that use IMPC mice or data for Klf5.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Klf5tm208531(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Klf5tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Klf5tm208531(L1L2_gt0_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Klf5tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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