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Gene: Hspb7 MGI:1352494

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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:
heat shock protein family, member 7 (cardiovascular)
Synonyms:
Hsp25-2,  cvHsp

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 Hspb7 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 Hspb7 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
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiomyopathy, Dilated, 1B
Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra... OMIM:600884
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e... OMIM:540000
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia ORPHA:324588
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Desminopathy
Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop... ORPHA:98909
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... OMIM:614473
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... ORPHA:324604
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Scimitar Syndrome
Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing... ORPHA:185
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Ventricular hypertrophy, Bradycardia, Congestive heart failure OMIM:619048
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ... ORPHA:206569
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Ragged-red muscle fibers OMIM:616794
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr... ORPHA:1349
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a... OMIM:616866
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Hemochromatosis, Type 2A
Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:602390
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Cardiomegaly, Myocardial infarction, Carotid artery calcification,... OMIM:208000
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myopathy, Mitral regurgitation, Reduced m... OMIM:212140
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... ORPHA:57777
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia ORPHA:157973
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete... ORPHA:1329
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... ORPHA:99050
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness OMIM:266500
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Pulmonary embolism, Venous insuffi... ORPHA:90308
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Non-Involuting Congenital Hemangioma
Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie... ORPHA:141179
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... ORPHA:52430
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Stroke-like episode, Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal heart morpho... ORPHA:70472
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... ORPHA:980
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Stillbirth, Camptodactyly, Neonatal death, Pulmonary arterial hypertension OMIM:619751
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Flexion c... ORPHA:1194
Sandhoff Disease
Cherry red spot of the macula, Congestive heart failure ORPHA:796
Butyrylcholinesterase Deficiency
Congestive heart failure, Myocardial infarction ORPHA:132
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction, Premature coronary artery atherosc... OMIM:615703
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... ORPHA:79083
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure, Decreased muscle mass, Facial hypotonia ORPHA:500533
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie... ORPHA:141184
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Myocardial infarction, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,... ORPHA:363705
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Abnormality of ... ORPHA:137667
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... OMIM:264800
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... ORPHA:2348
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Chylopericardium, Pulmonic stenosis, Pulmonary... ORPHA:2414
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... ORPHA:85446
Infantile Sialic Acid Storage Disease
Congestive heart failure, Cardiomegaly OMIM:269920
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Abnormal ca... ORPHA:565612
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, F... ORPHA:367
Mulibrey Nanism
Congestive heart failure, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Cednik Syndrome
Congestive heart failure, Stroke ORPHA:66631
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Fabry Disease
Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia OMIM:235200
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, My... ORPHA:99901
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Stroke OMIM:611126
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Skeletal myopa... ORPHA:746
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... ORPHA:2326
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur, Stroke, Bacterial endocarditis, Dil... ORPHA:1054
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia OMIM:609015
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis ORPHA:163596
Congenital Generalized Lipodystrophy
Prominent superficial veins, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia,... ORPHA:528
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Arterial dissection, Congestive heart failure, Elbow flexion contracture, ... ORPHA:1900
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Flexion contracture, Camptodactyly of finger ORPHA:261519
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:3386
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Abnormal atrioventricular conduction, Precocious atherosclerosis, Su... ORPHA:280365
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis, Abnormal hea... ORPHA:26791
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Cherry red spo... OMIM:230500
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopath... ORPHA:465508
Atransferrinemia
Congestive heart failure OMIM:209300
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized... ORPHA:98908
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval... ORPHA:308552
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Pulmonary artery ... ORPHA:3342
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... OMIM:176670
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Patent ductus arter... ORPHA:354
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... ORPHA:682
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Arteriovenous malformation ORPHA:137608
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a... ORPHA:1600
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation ORPHA:53721
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Stroke ORPHA:3077
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... OMIM:601808
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Patent ductus arteriosus, Flexion contracture, Macroglossia, Atrial sep... OMIM:617303
Babesiosis
Congestive heart failure, Myocardial infarction ORPHA:108
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... ORPHA:727
Dietary Iron Overload Disease
Congestive heart failure, Abnormal heart morphology ORPHA:139507
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Congestive heart failure OMIM:619355
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Transient isch... ORPHA:324
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jugular vein morp... ORPHA:1677
Carney Complex, Type 1
Cardiac myxoma, Congestive heart failure OMIM:160980
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Flexion... ORPHA:505248
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomy... OMIM:615895
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... ORPHA:70591
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... OMIM:123700
Mucopolysaccharidosis, Type Ii
Macroglossia, Flexion contracture, Abnormal heart valve morphology, Congestive heart failure OMIM:309900
Aarskog-Scott Syndrome
Congestive heart failure, Camptodactyly of finger ORPHA:915
Seckel Syndrome 10
Ventricular hypertrophy, Hypertension, Abdominal aortic aneurysm, Congestive heart failure OMIM:617253
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Congestive heart failure, Abnormal tendon morphology, Abnormal a... ORPHA:579
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Alstrom Syndrome
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Atherosclerosis OMIM:203800
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Congestive heart failure ORPHA:67
Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vas... ORPHA:902
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Myocarditis, Congestive heart f... ORPHA:466677
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Skeletal muscle atrophy, Perimembranous ventricular septal defect,... OMIM:608779
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Geleophysic Dysplasia 1
Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve stenosis, Mit... OMIM:231050
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Ascending tubular a... OMIM:617403
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Pulmonary arterial hyp... ORPHA:220393
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Martsolf Syndrome 1
Cardiomyopathy, Cardiac arrest, Congestive heart failure OMIM:212720
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Congestive heart failure, Arteriosclerosis of small cerebral arteries,... ORPHA:1830
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,... ORPHA:2331
Tetrasomy 5P
Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arteria... ORPHA:3309
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... ORPHA:90349
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... OMIM:242840
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Diastasis recti, Cardiomegaly, Congestive heart failure, Heart murmur, Macr... OMIM:252500
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Aortic dissection, Bicuspid aortic valve, Tricuspid ... OMIM:154700
Pediatric-Onset Graves Disease
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia ORPHA:525731
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Avian Influenza
Congestive heart failure, Rhabdomyolysis ORPHA:454836
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure, Descending aortic ... ORPHA:558
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli... ORPHA:3260
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency OMIM:166210
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure ORPHA:508542
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure ORPHA:75564
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death ORPHA:73224
Friedreich Ataxia 2
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... OMIM:601992
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Listeriosis
Pericarditis, Myocarditis, Congestive heart failure, Rhabdomyolysis, Endocarditis, Stroke, Arteritis ORPHA:533
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Myopathy, Hypertension, Congestive heart failure ORPHA:85450
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Congestive heart failure, Renovascular hypertension, Caro... ORPHA:391487
Erdheim-Chester Disease
Congestive heart failure, Abnormal aortic valve morphology, Abnormal pericardium morphology ORPHA:35687
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Abetalipoproteinemia
Myopathy, Distal lower limb muscle weakness, Congestive heart failure, Cardiomegaly ORPHA:14
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... ORPHA:33226
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Flexion contracture OMIM:616271
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... OMIM:182250
Dominant Beta-Thalassemia
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hypoplasia of the muscu... ORPHA:231226
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Congestive heart failure, Pulmonary arterial hypertension OMIM:616482
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Sm... OMIM:105650
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor... ORPHA:444077
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Myopathy, Congestive heart failure OMIM:615512
Atypical Werner Syndrome
Skeletal muscle atrophy, Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebr... ORPHA:79474
Beta-Thalassemia Major
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hypoplasia of the muscu... ORPHA:231214
Aceruloplasminemia
Congestive heart failure, Torticollis ORPHA:48818
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Myocardial infarction... ORPHA:904
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Coarctation... ORPHA:90348
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Congestive heart failure, Flexion... OMIM:256040
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure ORPHA:2505
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Incontinentia Pigmenti
Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage... ORPHA:464
Pancreatic insufficiency, combined exocrine
Congestive heart failure OMIM:260450
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure OMIM:181270
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Congestive h... OMIM:619475
Primary Sclerosing Cholangitis
Portal hypertension, Spider hemangioma, Congestive heart failure, Dilated superficial abdominal v... ORPHA:171
Generalized Pustular Psoriasis
Congestive heart failure ORPHA:247353
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture OMIM:225400
Beta-Thalassemia Intermedia
High-output congestive heart failure, Pulmonary arterial hypertension ORPHA:231222
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular... ORPHA:3385
Hallermann-Streiff Syndrome
Congestive heart failure ORPHA:2108
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure OMIM:617156
Carney Complex
Cardiac myxoma, Congestive heart failure, Hypertension, Dilatation of the cerebral artery, Stroke ORPHA:1359
Alström Syndrome
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial fibrosis, Hyper... ORPHA:64

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 Hspb7

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 Hspb7.

No publications found that use IMPC mice or data for Hspb7.

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MGI Allele Allele Type Produced
Hspb7tm278548(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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