Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Tpm1 MGI:98809

Gene Summary

Name:

tropomyosin 1, alpha

Synonyms:

TM2, Tm3, alpha-TM, Tpm-1

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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased heart weight	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.73×10^-08
increased circulating creatinine level	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.16×10^-06
decreased body weight	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.72×10^-05
increased thermal nociceptive threshold	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	9.80×10^-05
increased blood uric acid level	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.59×10^-06
preweaning lethality, complete penetrance	Tpm1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal glucose homeostasis	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.66×10^-07
increased circulating creatine kinase level	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.31×10^-05
increased prepulse inhibition	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.48×10^-05
increased startle reflex	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.53×10^-07

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Legacy Phenotype Associated Images

Tpm1^{tm1a(EUCOMM)Wtsi}
HET, Male, WTSI

View all 80 images

Tpm1^{tm1a(EUCOMM)Wtsi}
tail skin, HET, Female, WTSI

Human diseases caused by Tpm1 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.

Human diseases associated with Tpm1 (3 diseases)
Human diseases predicted to be associated with Tpm1 (367 diseases)

The table below shows human diseases associated to Tpm1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm...	ORPHA:154
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878

The table below shows human diseases predicted to be associated to Tpm1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric...	OMIM:618773
Nuchal Bleb, Familial	Hydrops fetalis, Fetal cystic hygroma, Stillbirth	OMIM:257350
Hydrops Fetalis, Nonimmune	Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:236750
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites	ORPHA:295
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal pericardial effusion, Fetal ascites, Fetal pleural effusion, Polyhydramnios, Hydrops fetalis	OMIM:619462
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar...	OMIM:603830
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Hydrops Fetalis	Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,...	ORPHA:1041
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec...	ORPHA:45452
Indomethacin Embryofetopathy	Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis...	ORPHA:1909
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Ascites, Tricuspid regurgitation, Pulmonary insufficiency, Hydrops fe...	OMIM:619433
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Pulmonary arterial ...	ORPHA:2414
Glycogen Storage Disease Ixa1	Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:306000
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Ventricula...	OMIM:115197
Lesch-Nyhan Phenotype With Normal Hgprt	Choreoathetosis, Hyperuricemia	OMIM:308950
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia	OMIM:261750
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:613124
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Glycogen Storage Disease V	Failure to elevate lactate upon ischemic exercise test, Hyperuricemia, Elevated circulating creat...	OMIM:232600
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia	OMIM:609886
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Bradycardia, Hydrop...	OMIM:618815
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Oligohydramnios, Polyhydramnios, Hydrops fetalis, Pericarditis	ORPHA:163596
Ulnar Agenesis And Endocardial Fibroelastosis	Endocardial fibroelastosis, Hydrops fetalis, Neonatal death	OMIM:276822
Morgagni-Stewart-Morel Syndrome	Obesity, Action tremor, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus	ORPHA:77296
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Ventricular septal defect, Single umbilical artery, Polyhydr...	ORPHA:3405
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi...	OMIM:614702
Diffuse Neonatal Hemangiomatosis	Ascites, Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Premature birth	ORPHA:2123
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia	ORPHA:371
Lymphatic Malformation 12	Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Neonatal death, Nonimmu...	OMIM:620014
Transaldolase Deficiency	Biventricular hypertrophy, Telangiectasia, Atrial septal defect, Hydrops fetalis, Edema	ORPHA:101028
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Tremor, Bicuspid aortic valve, Atrial sep...	OMIM:617744
Glycogen Storage Disease Iv	Cardiomyopathy, Ascites, Portal hypertension, Decreased fetal movement, Bradycardia, Polyhydramni...	OMIM:232500
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia, Cardiomyopathy	ORPHA:3222
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood u...	OMIM:617872
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Pulmonary edema, Breech presentation, Ventricular fibrillation, Increa...	OMIM:261740
Lesch-Nyhan Syndrome	Hyperuricemia	ORPHA:510
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy, Nonimmune hydrops fetalis	OMIM:619003
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ...	OMIM:601927
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Splenomegal...	ORPHA:79083
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen, Di...	OMIM:613845
Congenital Disorder Of Glycosylation, Type Ik	Abnormality of the amniotic fluid, Cardiomyopathy, Nonimmune hydrops fetalis	OMIM:608540
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Cardiomegaly, Hydrops fetalis, Premature birth	OMIM:269920
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormal tric...	ORPHA:90308
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Achondrogenesis, Type Ib	Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema	OMIM:600972
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef...	OMIM:619313
Chondrodysplasia, Blomstrand Type	Fetal ascites, Stillbirth, Polyhydramnios, Hydrops fetalis, Premature birth	OMIM:215045
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Polyhydramnios, Hydrops fetalis	ORPHA:2204
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia	OMIM:613092
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Congenital Enterovirus Infection	Fetal ascites, Hypotension, Cardiomyopathy, Fetal distress, Pleural effusion, Polyhydramnios, Dec...	ORPHA:292
Mulibrey Nanism	Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hydrops fetalis, Myoca...	OMIM:253250
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Hyperuricemia	OMIM:162000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Glycosuria, Hypoglycemia, Large for gestational age, Hypophosphatemi...	OMIM:616026
Distal 16P11.2 Microdeletion Syndrome	Obesity, Hyperuricemia	ORPHA:261222
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Dystonia, Hyperuricemia	ORPHA:79233
Burkitt Lymphoma	Hyperuricemia	ORPHA:543
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Hyperxanthinemia	OMIM:603592
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Plantar te...	ORPHA:69735
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Glycogen Storage Disease Vii	Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232800
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperuricemia, Hyperalaninemia, Fasting hypoglycemia, ...	ORPHA:348
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Weight loss, Hepatomegaly	ORPHA:134
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Fetal pericardial effusion, Second degree atrioventricular block, Ascites, Oligohydramnios, Nonim...	OMIM:617021
Neuraminidase Deficiency	Facial edema, Cardiomyopathy, Ascites, Cardiomegaly, Hydrops fetalis	OMIM:256550
Juvenile Paget Disease	Hyperuricemia	ORPHA:2801
Congenital Disorder Of Glycosylation, Type Il	Ascites, Fetal skin edema, Decreased fetal movement, Atrial septal defect, Pericardial effusion, ...	OMIM:608776
Sialidosis Type 2	Ascites, Hydrops fetalis, Pedal edema	ORPHA:87876
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,...	ORPHA:363705
Lymphatic Malformation 13	Fetal pericardial effusion, Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Noni...	OMIM:620244
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Left ventricular hypertrophy, Small for gestationa...	OMIM:616733
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Hyperuricemia, Hprt-Related	Hyperuricemia	OMIM:300323
Fetal Gaucher Disease	Decreased fetal movement, Neonatal death, Fetal akinesia sequence, Stillbirth, Intracranial hemor...	ORPHA:85212
Long-Olsen-Distelmaier Syndrome	Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive...	OMIM:620609
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Premature birth, Nonimmune hydrops fetalis	OMIM:618838
Alpha-Thalassemia	Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis	ORPHA:846
Cantu Syndrome	Congenital hypertrophy of left ventricle, Lymphedema, Cardiomegaly, Bicuspid aortic valve, Perica...	OMIM:239850
Achondrogenesis	Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold	ORPHA:932
Meckel Syndrome, Type 8	Pericardial effusion, Anhydramnios	OMIM:613885
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Pleural effusion, Hemothorax, Pulmonary e...	ORPHA:199241
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Neonatal death, Nonim...	OMIM:620167
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ...	ORPHA:26793
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ...	OMIM:616897
Cystinuria	Hyperuricemia	ORPHA:214
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Weight lo...	ORPHA:199299
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid stenosis, Edema, Muscular ventricular septal defect, Tricu...	OMIM:212093
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia...	OMIM:618775
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Premature birth, Cardiomyopathy, Nonimmune hydrops fetalis	OMIM:618839
Achondrogenesis Type 1B	Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold	ORPHA:93298
Drug-Induced Lupus Erythematosus	Pericardial effusion, Prolonged QTc interval, Pericarditis	ORPHA:231111
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Neonatal death, Premature birth, Nonimmune hydrops fetalis	OMIM:618835
3-Hydroxy-3-Methylglutaric Aciduria	Dilated cardiomyopathy, Recurrent hypoglycemia, Hyperammonemia, Hyperuricemia, Weight loss, Nonke...	ORPHA:20
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Congestive heart failure, Ascites, Abnormal cardiomyocyte morphology, Por...	ORPHA:367
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased circulating carnitine concentration, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hepat...	OMIM:246450
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hydroxyprolinuria, Failure to thrive, Hyperuricemia, Hydroxyprolinemia	OMIM:239000
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Multiple muscular ventricular septal defects, Polyhydramnios, Decreased fetal movement, Atrial se...	OMIM:620070
Glycogen Storage Disease Ia	Hypoglycemia, Hyperlipidemia, Hyperuricemia, Fasting hypoglycemia, Hepatomegaly, Enlarged kidney	OMIM:232200
Achondrogenesis Type 1A	Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold	ORPHA:93299
Hypocomplementemic Urticarial Vasculitis	Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Pericardial effusion, Sma...	ORPHA:36412
Lymphatic Malformation 1	Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis	OMIM:153100
Lesch-Nyhan Syndrome	Opisthotonus, Dystonia, Choreoathetosis, Hyperuricemia	OMIM:300322
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia	OMIM:614227
Boomerang Dysplasia	Polyhydramnios, Hydrops fetalis	ORPHA:1263
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity, Hypoalbuminemia	ORPHA:88643
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Gaisböck Syndrome	Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overweight,...	ORPHA:90041
Interstitial Nephritis, Karyomegalic	Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis	ORPHA:477774
Fanconi-Bickel Syndrome	Hypouricemia, Postprandial hyperglycemia, Generalized aminoaciduria, Failure to thrive, Glycosuri...	OMIM:227810
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:411536
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Hydrops fetalis, Abnormality of the...	OMIM:609015
Acute Adrenal Insufficiency	Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Weight loss, Hyperkalemia, Hypercal...	ORPHA:95409
Congenital Myopathy 1B, Autosomal Recessive	Polyhydramnios, Hydrops fetalis, Decreased fetal movement	OMIM:255320
Lymphatic Malformation 6	Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural effusion, Genital edem...	OMIM:616843
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Hemochromatosis, Neonatal	Oligohydramnios, Nonimmune hydrops fetalis	OMIM:231100
Hereditary Fructose Intolerance	Hypermagnesemia, Reactive hypoglycemia, Hyperuricemia, Hypophosphatemia, Hepatomegaly	ORPHA:469
Alstrom Syndrome	Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentrat...	OMIM:203800
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine k...	OMIM:600649
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Tremor, Decreased serum creatinine	OMIM:612736
Fructose Intolerance, Hereditary	Transient aminoaciduria, Failure to thrive, Hypoglycemia, Glycosuria, Hyperbilirubinemia, Hyperur...	OMIM:229600
Free Sialic Acid Storage Disease	Ascites, Hydrops fetalis	ORPHA:834
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Acute Interstitial Pneumonia	Pericardial effusion, Peripheral edema, Pleural effusion, Hypertension	ORPHA:79126
Glycogen Storage Disease Ib	Hypoglycemia, Hyperlipidemia, Splenomegaly, Hyperuricemia, Hepatomegaly, Enlarged kidney	OMIM:232220
Preeclampsia	Elevated circulating creatinine concentration, Type I diabetes mellitus, Small for gestational ag...	ORPHA:275555
Medullary cystic kidney disease 2	Hyperuricemia	OMIM:603860
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm...	ORPHA:154
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy	OMIM:620089
Neuroleptic Malignant Syndrome	Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circu...	ORPHA:94093
Addison Disease	Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Weight lo...	ORPHA:85138
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Failure to thrive, Splenomegaly, Tremor, Increased circulating inosine concentratio...	OMIM:613179
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria	OMIM:615605
Primary Intestinal Lymphangiectasia	Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Edema	ORPHA:90362
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:411543
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Glycosuria, Elevated circulating creatinine concentration, ...	OMIM:137920
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Recurrent hypog...	OMIM:212140
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Alg8-Cdg	Ascites, Oligohydramnios, Hydrops fetalis, Edema, Premature birth	ORPHA:79325
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se...	OMIM:153400
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Perimembranous...	OMIM:608104
Pediatric Systemic Lupus Erythematosus	Ascites, Pleural effusion, Raynaud phenomenon, Pericardial effusion, Edema	ORPHA:93552
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Chylothorax, Lymphedema, Abnormal heart morphology, Congestive heart failure, Cerebral...	ORPHA:137667
Achondrogenesis, Type Ii	Polyhydramnios, Hydrops fetalis, Edema, Stillbirth	OMIM:200610
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Anasarca, Ascites, Polyhydramnios, Pleural effusion, Pericardial effusion	OMIM:618183
Trisomy 1Q	Increased nuchal translucency, Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Patent...	ORPHA:261344
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Aicardi-Goutieres Syndrome 9	Ascites, Portal hypertension, Left ventricular hypertrophy, Pericardial effusion, Hypertension, I...	OMIM:619487
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Fatigable weakness, Hyperammonemia, Fatigable weakness of neck muscles, Cardiomegal...	ORPHA:42
Trisomy 13	Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Ventricular septal defect	ORPHA:3378
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Hydrops fetalis	ORPHA:766
Molybdenum Cofactor Deficiency, Type C	Hypouricemia, Hypertaurinemia, Increased urinary taurine, Hypocystinemia	OMIM:615501
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Palpebral edema, Palmar telangiectasia, Nonimmune hydrops fe...	OMIM:607823
Xanthinuria, Type I	Hypouricemia, Hyperxanthinemia	OMIM:278300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Hyperlipidemia, Hyperuricemia, Hyperchole...	ORPHA:79259
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Lethal Congenital Contracture Syndrome 10	Oligohydramnios, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Overriding aor...	OMIM:617022
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Periorbital edema, Lymphedema, Pleural effusion, Ventricular septal defect, Nonimmune hydrops fet...	OMIM:235510
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis	OMIM:616738
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Situs inversus totalis, Hypokalemia, Dextrocardia,...	OMIM:613095
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal...	ORPHA:77261
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion	OMIM:613011
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Hypoglycemia, Increased total bilirubin, Elevated circulating creatinine ...	OMIM:608836
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Pleural effusion, Edema	OMIM:617822
Congenital Disorder Of Glycosylation, Type Ia	Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Abnormality of the amniotic flui...	OMIM:212065
Gm1 Gangliosidosis	Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Ventricular septal defect, H...	ORPHA:354
Osteogenesis Imperfecta, Type Ii	Pulmonary insufficiency, Congestive heart failure, Premature birth, Nonimmune hydrops fetalis	OMIM:166210
Mosaic Trisomy 9	Abnormal heart valve morphology, Endocardial fibroelastosis, Oligohydramnios, Ventricular septal ...	ORPHA:99776
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hyperuricemia	OMIM:232240
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Phosphoribosylpyrophosphate Synthetase Superactivity	Small for gestational age, Hyperuricemia	OMIM:300661
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia, Situs inversus totalis, Enlarged kidney	OMIM:602088
Q Fever	Vasculitis, Abnormal heart valve morphology, Pleural effusion, Myocarditis, Abnormal left ventric...	ORPHA:781
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Abnormal heart morphology, Increased placental thickness, Hydrops fetalis, Single umbilical artery	ORPHA:1865
Poems Syndrome	Ascites, Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion, Edema	ORPHA:2905
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c...	ORPHA:73224
Platyspondylic Dysplasia, Torrance Type	Polyhydramnios, Hydrops fetalis	ORPHA:85166
Mgat2-Cdg	Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Hydrops fetalis, Patent ductus ...	ORPHA:79329
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Gaucher Disease, Perinatal Lethal	Desquamation of skin soon after birth, Ascites, Decreased fetal movement, Neonatal death, Cardiom...	OMIM:608013
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Cholestasis, Progressive Familial Intrahepatic, 5	Ascites, Pleural effusion, Nonimmune hydrops fetalis	OMIM:617049
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
S-Adenosylhomocysteine Hydrolase Deficiency	Hydrops fetalis, Cardiomyopathy	ORPHA:88618
Mucopolysaccharidosis Type 7	Ascites, Hydrops fetalis, Lymphedema	ORPHA:584
Aapoaiv Amyloidosis	Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyperlipidemia, Diabe...	ORPHA:439232
Alg9-Cdg	Thickened nuchal skin fold, Abnormal heart morphology, Tricuspid regurgitation, Oligohydramnios, ...	ORPHA:79328
Juvenile Nephropathic Cystinosis	Hypouricemia, Aminoaciduria, Failure to thrive, Glycosuria, Elevated circulating creatinine conce...	ORPHA:411634
Kaposiform Lymphangiomatosis	Epistaxis, Pleural effusion, Pericardial effusion, Subconjunctival hemorrhage, Epidural hemorrhage	ORPHA:464329
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Cockayne Syndrome	Splenomegaly, Hyperuricemia, Action tremor, Cachexia, Hepatomegaly, Diabetes mellitus, Intention ...	ORPHA:191
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Diabetes mellitus, Hyperuricemia	ORPHA:93111
Campomelia, Cumming Type	Oligohydramnios, Hydrops fetalis, Lymphedema	ORPHA:1318
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Failure to th...	OMIM:248250
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Weight loss	ORPHA:90060
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Galactosialidosis	Conjunctival telangiectasia, Nonimmune hydrops fetalis	OMIM:256540
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Fibrochondrogenesis 1	Hydrops fetalis, Patent foramen ovale, Stillbirth	OMIM:228520
Achondrogenesis, Type Ia	Absence of stomach bubble on fetal sonography, Increased nuchal translucency, Stillbirth, Polyhyd...	OMIM:200600
Fraser Syndrome 3	Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Sonographic non-visualized fetal bladder, St...	OMIM:617667
Hereditary Xanthinuria	Hypouricemia, Hyperxanthinemia	ORPHA:3467
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Elevated circulating creatinine concentration	OMIM:614376
Primary Fanconi Renotubular Syndrome	Hypouricemia, Generalized aminoaciduria, Decreased circulating carnitine concentration, Glycosuri...	ORPHA:3337
Familial Osteodysplasia, Anderson Type	Hyperuricemia	ORPHA:2769
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Facial telangiectasia in butterfly midface distribution, Lymphedema, Telangiectasia of extensor s...	OMIM:137940
Crimean-Congo Hemorrhagic Fever	Tachycardia, Diffuse alveolar hemorrhage, Ascites, Bundle branch block, Hemothorax, Hemoperitoneu...	ORPHA:99827
Schneckenbecken Dysplasia	Polyhydramnios, Stillbirth, Nonimmune hydrops fetalis	OMIM:269250
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis	OMIM:618265
Gm1 Gangliosidosis Type 1	Hydrops fetalis, Abnormal placenta morphology, Cardiomyopathy	ORPHA:79255
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Patent du...	OMIM:265380
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hydrops fetalis	OMIM:614091
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Wilson Disease	Hypouricemia, Hypoalbuminemia, Aminoaciduria, Glycosuria, Hand tremor, Hyperbilirubinemia, Limb d...	OMIM:277900
Mucopolysaccharidosis, Type Vii	Abnormal heart valve morphology, Hydrops fetalis, Cardiomyopathy	OMIM:253220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Hennekam Syndrome	Chylothorax, Lymphedema, Ascites, Pericardial effusion, Hydrops fetalis	ORPHA:2136
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Oligohydramnios, Hematemesis, Pericardial ...	OMIM:615846
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Exaggerated startle response	OMIM:618201
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Tremor	OMIM:274150
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Abnormal h...	ORPHA:97214
Hereditary Amyloidosis With Primary Renal Involvement	Elevated circulating creatinine concentration, Hepatosplenomegaly, Weight loss, Decreased circula...	ORPHA:85450
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Noonan Syndrome 2	Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increased nuchal tran...	OMIM:605275
Lethal Ataxia With Deafness And Optic Atrophy	Hypouricemia	ORPHA:1187
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Increased urinary taurine, Elevated urinary S-sulfocysteine level, Opisthotonus	OMIM:252150
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia	ORPHA:760
Farber Disease	Ascites, Hydrops fetalis, Joint swelling	ORPHA:333
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Car...	OMIM:255120
Congenitally Uncorrected Transposition Of The Great Arteries	Failure to thrive, Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal...	ORPHA:860
Gitelman Syndrome	Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Prolonged QT int...	ORPHA:358
Congenital Syphilis	Myocarditis, Hydrops fetalis, Large placenta, Premature birth	ORPHA:499009
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Pulmo...	ORPHA:79282
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Opisthotonus, Increased urinary taurine	OMIM:252160
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Hydrops fetalis	OMIM:613673
Structural Heart Defects And Renal Anomalies Syndrome	Tetralogy of Fallot, Elevated circulating creatinine concentration, Truncus arteriosus, Ventricul...	OMIM:617478
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Cerebral hemorr...	OMIM:620371
Greenberg Dysplasia	Increased nuchal translucency, Large placenta, Neonatal death, Nonimmune hydrops fetalis, Stillbi...	OMIM:215140
Stiff Person Spectrum Disorder	Diabetes mellitus, Exaggerated startle response	ORPHA:3198
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Chylopericardium	ORPHA:538
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Fetal distress, Ascites, Left ventricular systolic dysfunction, Transien...	ORPHA:51608
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Supraventricular arr...	ORPHA:91347
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Hyperproteinemia, Hyper...	ORPHA:29073
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Hydrops fetalis, Atrial septal defect	OMIM:616546
Congenital Myopathy 22B, Severe Fetal	Ascites, Pleural effusion, Decreased fetal movement, Nonimmune hydrops fetalis, Breech presentati...	OMIM:620369
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Aymé-Gripp Syndrome	Pericardial effusion, Patent ductus arteriosus, Pericarditis	ORPHA:1272
Chédiak-Higashi Syndrome	Pericardial effusion, Epistaxis, Pleural effusion, Edema	ORPHA:167
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Hydrops fetalis, Atrial septal defect, Ventricular septal defect	OMIM:263520
Classical-Like Ehlers-Danlos Syndrome Type 2	Pericardial effusion, Mitral valve prolapse	ORPHA:536532
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Ventricular septal defect	ORPHA:268249
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration	OMIM:618885
Oligomeganephronia	Elevated circulating creatinine concentration, Secundum atrial septal defect, Small for gestation...	ORPHA:2260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Fetal distress, Bilateral fetal pyelectasis, Breech presentation, Atrial septal defect, Polyhydra...	OMIM:300868
Pyruvate Kinase Deficiency Of Red Cells	Nonimmune hydrops fetalis	OMIM:266200
Anemia, Congenital Dyserythropoietic, Type Ia	Hydrops fetalis	OMIM:224120
Myhre Syndrome	Aortic valve stenosis, Ventricular septal defect, Atrial septal defect, Pericardial effusion, Hyp...	OMIM:139210
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Fetal polyuria, Polyhydramnios, Hydrops fetalis, Edema, Premature birth	OMIM:602522
Cranioectodermal Dysplasia 2	Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defect, Polyhydramnios, Hydrops...	OMIM:613610
Stiff-Person Syndrome	Opisthotonus, Diabetes mellitus, Exaggerated startle response	OMIM:184850
Pearson Syndrome	Cardiomyopathy, Abnormal heart morphology, Cardiac conduction abnormality, Corneal stromal edema,...	ORPHA:699
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration, Cardiomyopathy	ORPHA:247691
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Hydrops fetalis, Premature birth	ORPHA:50945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Transposition of the ...	OMIM:253800
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Increased nuchal translucency, Renovascular hypertension, Ve...	ORPHA:3472
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, Hyperglycinemia, Partial atrioventricular canal defect, Exaggerated ...	OMIM:620423
Autoinflammatory Disease, Systemic, With Vasculitis	Premature birth, Cardiomegaly, Periorbital edema, Hydrops fetalis, Small vessel vasculitis	OMIM:620376
Leukodystrophy, Hypomyelinating, 13	Failure to thrive, Exaggerated startle response	OMIM:616881
Multiple Pterygium Syndrome, Escobar Variant	Hydrops fetalis, Decreased fetal movement	OMIM:265000
Gaucher Disease	Aortic valve calcification, Abnormal pericardium morphology, Abnormal heart valve morphology, Mit...	ORPHA:355
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration, Enlarged kidney, Mitral valve prolapse	ORPHA:730
Fetal Akinesia Deformation Sequence 1	Small placenta, Increased nuchal translucency, Short umbilical cord, Decreased fetal movement, No...	OMIM:208150
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re...	OMIM:608643
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion	OMIM:181000
Hereditary Elliptocytosis	Hydrops fetalis	ORPHA:288
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Mitral valve prolapse, Exaggerated startle response	ORPHA:309155
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Atrial septal defect, Patent foramen ovale, Exaggerated startle response	OMIM:620327
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Hyperalaninemia, Hypoglycemia, Exaggerated startle response	OMIM:620451
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Pearson Marrow-Pancreas Syndrome	Hydrops fetalis, Dehydration	OMIM:557000
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Hyperammonemia, Hyperglutaminemia, Low plasma citrulline, Elevated circulating...	OMIM:311250
Sandhoff Disease	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Exaggerated startle response	OMIM:268800
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Exaggerated startle response	OMIM:617864
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Phocomelia, Schinzel Type	Hydrops fetalis	ORPHA:2879
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Hydrops fetalis	ORPHA:3261
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Marburg Hemorrhagic Fever	Hypoalbuminemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hy...	ORPHA:99826
Cardiogenic Shock	Hepatomegaly, Elevated circulating creatinine concentration	ORPHA:97292
Asparagine Synthetase Deficiency	Hypoasparaginemia, Failure to thrive, Tremor, Exaggerated startle response	OMIM:615574
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy...	ORPHA:845
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Weight lo...	ORPHA:449395
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Diamond-Blackfan Anemia	Abnormal heart morphology, Nonimmune hydrops fetalis, Atrial septal defect, Ventricular septal de...	ORPHA:124
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia, Decreased body we...	ORPHA:340
Niemann-Pick Disease Type C	Ascites, Fetal ascites, Hydrops fetalis	ORPHA:646
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Unbalanced atrioventricular canal defect, Secundum atrial septal defect, Failure...	OMIM:619534
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Hepatoerythropoietic Porphyria	Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis	ORPHA:95159
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Failure to thrive, Exaggerated startle response	ORPHA:521426
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Failure to thrive, Exaggerated startle response	OMIM:617527
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Pancreatic hyperplasia, Elevat...	ORPHA:99829
Congenital Erythropoietic Porphyria	Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis	ORPHA:79277
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Pulmonary a...	OMIM:216340
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Pmm2-Cdg	Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Angina pectoris, Pericardial effusion, Intracr...	ORPHA:79318
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hydrops fetalis	ORPHA:93271
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Abnormal heart morphology, Patent foramen ovale, Ventri...	ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Exaggerated startle response, Ventricular septal defect	OMIM:619522

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 Tpm1

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 Tpm1.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Lens-specific conditional knockout of tropomyosin 1 gene in mice causes abnormal fiber differentiation and lens opacity.	Mechanisms of ageing and development (April 2021)	Tpm1^{tm1c(EUCOMM)Wtsi} Tpm1^{tm1a(EUCOMM)Wtsi}	33862037
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Tpm1^tm1aWtsi	PMC6459510
Optimising experimental design for high-throughput phenotyping in mice: a case study.	Mammalian genome : official journal of the International Mammalian Genome Society (August 2010)	Tpm1^{tm1a(EUCOMM)Wtsi}	PMC2974211

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Tpm1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Tpm1^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tpm1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us