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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 prepulse inhibition	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.48×10^-05
increased circulating creatine kinase level	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.31×10^-05
increased blood uric acid level	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.59×10^-06
increased heart weight	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.73×10^-08
increased startle reflex	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.53×10^-07
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
abnormal glucose homeostasis	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.66×10^-07
increased circulating creatinine level	Tpm1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.16×10^-06

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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 (350 diseases)

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

Disease	Matching phenotypes	Source
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:154
Cardiomyopathy, Dilated, 1Y	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas...	OMIM:611878

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

Disease	Matching phenotypes	Source
Lymphatic Malformation 8	Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge...	OMIM:618773
Nuchal Bleb, Familial	Hydrops fetalis, Stillbirth, Fetal cystic hygroma	OMIM:257350
Hydrops Fetalis, Nonimmune	Nonimmune hydrops fetalis, Hydrops fetalis, Congestive heart failure	OMIM:236750
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis, Increased nuchal translucency	ORPHA:295
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Fetal pericardial effusion	OMIM:619462
Long Qt Syndrome 3	Sudden cardiac death, Torsade de pointes, Hydrops fetalis, Syncope, Nonimmune hydrops fetalis, Ve...	OMIM:603830
Hydrops Fetalis	Polyhydramnios, Lymphedema, Pericardial effusion, Increased placental thickness, Nonimmune hydrop...	ORPHA:1041
Idiopathic Neonatal Atrial Flutter	Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm...	ORPHA:45452
Cardiomyopathy, Dilated, 1A	Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh...	OMIM:115200
Indomethacin Embryofetopathy	Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Premature birt...	ORPHA:1909
Cardiomyopathy, Familial Hypertrophic, 27	Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc...	OMIM:618052
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr...	ORPHA:300751
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Pulmonary insufficiency, Hydrops fetalis, Ascites, Pulmonic stenosis,...	OMIM:619433
Glycogen Storage Disease Ixa1	Hyperuricemia, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly	OMIM:306000
Glycogen Storage Disease Ixb	Hypoglycemia, Hyperuricemia, Splenomegaly, Hepatomegaly	OMIM:261750
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Lesch-Nyhan Phenotype With Normal Hgprt	Choreoathetosis, Hyperuricemia	OMIM:308950
Congenital Pulmonary Lymphangiectasia	Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple...	ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 4	Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a...	OMIM:115197
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:613124
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Lymphatic Malformation 7	Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec...	OMIM:617300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperuricemia, Hyperlipidemia	ORPHA:364
Hb Bart'S Hydrops Fetalis	Polyhydramnios, Hydrops fetalis, Congestive heart failure, Oligohydramnios, Pericarditis, Preecla...	ORPHA:163596
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance...	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	Fetal akinesia sequence, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Br...	OMIM:618815
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hydrops fetalis, Endocardial fibroelastosis	OMIM:276822
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Single umbilical artery, Abnormal tri...	ORPHA:3405
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal...	OMIM:614702
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Diabetes mellitus, Action tremor, Hypercholesterolemia, Obesity	ORPHA:77296
Diffuse Neonatal Hemangiomatosis	Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ascites, Premature birth	ORPHA:2123
Glycogen Storage Disease V	Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232600
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia	ORPHA:371
Lymphatic Malformation 12	Polyhydramnios, Lymphedema, Fetal pleural effusion, Nonimmune hydrops fetalis, Fetal ascites, Fet...	OMIM:620014
Glycogen Storage Disease Iv	Polyhydramnios, Hydrops fetalis, Decreased fetal movement, Edema, Ascites, Portal hypertension, C...	OMIM:232500
Transaldolase Deficiency	Telangiectasia, Hydrops fetalis, Atrial septal defect, Edema, Biventricular hypertrophy	ORPHA:101028
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia, Cardiomyopathy	ORPHA:3222
Lesch-Nyhan Syndrome	Hyperuricemia	ORPHA:510
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Failure to thrive, Hypoglycemia, Hepatomegaly, Elevated circulatin...	OMIM:617872
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in...	OMIM:261740
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy	OMIM:619003
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Klippel-Trénaunay Syndrome	Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Congestive heart failure, Internal...	ORPHA:90308
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Decreased serum creatinine, Atrial septal defect, Hypohomocysteinemia, Fai...	OMIM:617744
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Lymphedema, Atrial septal d...	OMIM:601927
Infantile Sialic Acid Storage Disease	Hydrops fetalis, Congestive heart failure, Cardiomegaly, Ascites, Premature birth	OMIM:269920
Congenital Disorder Of Glycosylation, Type Ik	Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Cardiomyopathy	OMIM:608540
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyperuricemia, Failure to thrive, Diabetes mellitus, Increased blood urea nitrogen, Hyponatremia,...	OMIM:613845
Pparg-Related Familial Partial Lipodystrophy	Hyperuricemia, Maternal diabetes, Insulin resistance, Diabetes mellitus, Hypertrophic cardiomyopa...	ORPHA:79083
Achondrogenesis, Type Ib	Polyhydramnios, Hydrops fetalis, Breech presentation, Edema, Stillbirth	OMIM:600972
Chondrodysplasia, Blomstrand Type	Polyhydramnios, Hydrops fetalis, Fetal ascites, Stillbirth, Premature birth	OMIM:215045
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hyperuricemia, Decreased plasma carnitine, Hypoglycemia, Hyperammonemia, Hepatomegaly	OMIM:246450
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia	OMIM:613092
Mulibrey Nanism	Hydrops fetalis, Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Cardiom...	OMIM:253250
Dysplastic Cortical Hyperostosis	Polyhydramnios, Hydrops fetalis	ORPHA:2204
Congenital Enterovirus Infection	Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Fetal distress, Decreased fet...	ORPHA:292
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge...	OMIM:619313
Glycogen Storage Disease Vii	Increased total bilirubin, Hyperuricemia	OMIM:232800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Hyperuricemia	OMIM:162000
Congenital Disorder Of Glycosylation, Type Il	Abnormal cardiac septum morphology, Pericardial effusion, Decreased fetal movement, Edema, Ascites	OMIM:608776
Burkitt Lymphoma	Hyperuricemia	ORPHA:543
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Glycosuria, Hypophosphatemia, Large for gestational age, Diabetes mellitus, Hypogl...	OMIM:616026
Preeclampsia	Small for gestational age, Elevated circulating creatinine concentration, Increased body mass ind...	ORPHA:275555
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Distal 16P11.2 Microdeletion Syndrome	Obesity, Hyperuricemia	ORPHA:261222
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, P...	ORPHA:69735
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp...	ORPHA:555874
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Neonatal hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia,...	ORPHA:348
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Dystonia	ORPHA:79233
Xanthinuria, Type Ii	Hypouricemia, Hyperxanthinemia, Increased circulating hypoxanthine concentration	OMIM:603592
Neuraminidase Deficiency	Cardiomyopathy, Hydrops fetalis, Cardiomegaly, Ascites, Facial edema	OMIM:256550
Beta-Ketothiolase Deficiency	Hyperuricemia, Weight loss, Hypoglycemia, Hyperammonemia, Hepatomegaly, Hyperglycemia	ORPHA:134
Juvenile Paget Disease	Hyperuricemia	ORPHA:2801
Craniofaciofrontodigital Syndrome	Pulmonary arterial hypertension, Polyhydramnios, Patent ductus arteriosus, Cardiomegaly, Persiste...	ORPHA:363705
Alstrom Syndrome	Hyperinsulinemia, Hyperuricemia, Dilated cardiomyopathy, Decreased HDL cholesterol concentration,...	OMIM:203800
Sialidosis Type 2	Pedal edema, Ascites, Hydrops fetalis	ORPHA:87876
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Elevated circulating creatinine concentration, Left ventricular hypert...	OMIM:616733
Fetal Gaucher Disease	Fetal akinesia sequence, Hydrops fetalis, Decreased fetal movement, Intracranial hemorrhage, Stil...	ORPHA:85212
Achondrogenesis	Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold	ORPHA:932
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Combined Oxidative Phosphorylation Deficiency 41	Premature birth, Cardiomegaly, Nonimmune hydrops fetalis	OMIM:618838
Hyperuricemia, Hprt-Related	Hyperuricemia	OMIM:300323
Cantu Syndrome	Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus...	OMIM:239850
Meckel Syndrome, Type 8	Pericardial effusion, Anhydramnios	OMIM:613885
Achondrogenesis Type 1B	Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold	ORPHA:93298
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At...	ORPHA:26793
Cystinuria	Hyperuricemia	ORPHA:214
Lymphangiectasia, Pulmonary, Congenital	Polyhydramnios, Pedal edema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylous ascites,...	OMIM:265300
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Weight loss, Hyperkalemia, Type I diabetes mellitus, Failure to thrive, Hypoglycem...	ORPHA:199299
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Pleural effusion, Hypertrophic cardio...	OMIM:616897
Achondrogenesis Type 1A	Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold	ORPHA:93299
Drug-Induced Lupus Erythematosus	Pericarditis, Prolonged QTc interval, Pericardial effusion	ORPHA:231111
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Polyhydramnios, Fetal akinesia sequence, Dilated cardiomyopathy, Congestive heart failure, Nonimm...	ORPHA:367
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi...	OMIM:618775
Combined Oxidative Phosphorylation Deficiency 42	Nonimmune hydrops fetalis, Neonatal death, Premature birth, Cardiomyopathy	OMIM:618839
Mitochondrial Trifunctional Protein Deficiency 1	Hydrops fetalis, Prenatal maternal abnormality, Dilated cardiomyopathy, Congestive heart failure,...	OMIM:609015
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Neonatal death, Premature birth	OMIM:618835
Boomerang Dysplasia	Polyhydramnios, Hydrops fetalis	ORPHA:1263
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hyperuricemia, Hydroxyprolinuria, Failure to thrive, Hydroxyprolinemia	OMIM:239000
3-Hydroxy-3-Methylglutaric Aciduria	Hyperuricemia, Weight loss, Nonketotic hypoglycemia, Dilated cardiomyopathy, Hyperammonemia, Recu...	ORPHA:20
Cardiac Valvular Dysplasia 1	Patent foramen ovale, Hydrops fetalis, Ventricular septal defect, Valvular pulmonary stenosis, Mi...	OMIM:212093
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Fanconi-Bickel Syndrome	Glycosuria, Hypophosphatemia, Hypokalemia, Generalized aminoaciduria, Failure to thrive, Hypouric...	OMIM:227810
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia	OMIM:614227
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio...	ORPHA:199241
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity, Hypoalbuminemia	ORPHA:88643
Glycogen Storage Disease Ia	Hyperuricemia, Enlarged kidney, Hypoglycemia, Hyperlipidemia, Hepatomegaly, Fasting hypoglycemia	OMIM:232200
Lesch-Nyhan Syndrome	Choreoathetosis, Opisthotonus, Hyperuricemia, Dystonia	OMIM:300322
Interstitial Nephritis, Karyomegalic	Glycosuria, Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Congenital Myopathy 1B, Autosomal Recessive	Polyhydramnios, Decreased fetal movement, Hydrops fetalis	OMIM:255320
Lymphatic Malformation 1	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hyperkeratosis over edematous areas	OMIM:153100
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Pericardial effusion, Pleural effusion, Ascites, Angioedema, Abnormal he...	ORPHA:36412
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Polyhydramnios, Pericardial effusion, Decreased fetal movement, Atrial septal defect, Multiple mu...	OMIM:620070
Lymphatic Malformation 6	Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Atrial septal defect, Pleural effusion, Ed...	OMIM:616843
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis	ORPHA:477774
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Overwe...	ORPHA:90041
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Acute Adrenal Insufficiency	Hyperuricemia, Weight loss, Hyperkalemia, Increased circulating renin level, Failure to thrive, H...	ORPHA:95409
Hereditary Fructose Intolerance	Hyperuricemia, Hypophosphatemia, Hypermagnesemia, Reactive hypoglycemia, Hepatomegaly	ORPHA:469
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:411536
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Combined Deficiency Of Factor V And Factor Viii	Hyperuricemia, Hyperlipidemia	ORPHA:35909
Hemochromatosis, Neonatal	Nonimmune hydrops fetalis, Oligohydramnios	OMIM:231100
Free Sialic Acid Storage Disease	Ascites, Hydrops fetalis	ORPHA:834
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperuricemia, Glycosuria, Hypophosphatemia, Hyperbilirubinemia, Failure...	OMIM:229600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrat...	OMIM:600649
Fanconi Renotubular Syndrome 3	Glycosuria, Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Purine Nucleoside Phosphorylase Deficiency	Increased circulating inosine concentration, Failure to thrive, Increased circulating guanosine c...	OMIM:613179
Glycogen Storage Disease Ib	Hyperuricemia, Enlarged kidney, Hypoglycemia, Hyperlipidemia, Hepatomegaly, Splenomegaly	OMIM:232220
Medullary cystic kidney disease 2	Hyperuricemia	OMIM:603860
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Acute Interstitial Pneumonia	Pericardial effusion, Pleural effusion, Hypertension, Peripheral edema	ORPHA:79126
Alpha-Thalassemia	Hydrops fetalis	ORPHA:846
Gm1-Gangliosidosis, Type I	Hydrops fetalis, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, A...	OMIM:230500
Renal Cysts And Diabetes Syndrome	Hyperuricemia, Impaired glucose tolerance, Glycosuria, Maturity-onset diabetes of the young, Diab...	OMIM:137920
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Oculogyric crisis, Hyperkalemia, Elevated circulating creatine ...	ORPHA:94093
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy	OMIM:620089
Addison Disease	Hyperuricemia, Weight loss, Hyperkalemia, Type I diabetes mellitus, Increased circulating renin l...	ORPHA:85138
Primary Intestinal Lymphangiectasia	Pericardial effusion, Pleural effusion, Edema, Ascites, Generalized edema	ORPHA:90362
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:411543
Alg8-Cdg	Hydrops fetalis, Oligohydramnios, Edema, Ascites, Premature birth	ORPHA:79325
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Ventricular septal defect, Lymphedema, Predominantly lower limb lymphed...	OMIM:153400
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Tremor, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Achondrogenesis, Type Ii	Polyhydramnios, Hydrops fetalis, Edema, Stillbirth	OMIM:200610
Capillary Malformation-Arteriovenous Malformation	Telangiectasia, Cerebral ischemia, Lymphedema, Congestive heart failure, Nonimmune hydrops fetali...	ORPHA:137667
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Impaired gluconeogenesis, Decreased plasma carnitine, Elevated circulating creati...	OMIM:212140
Trisomy 1Q	Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Increased n...	ORPHA:261344
Trisomy 13	Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Atrial septal defect	ORPHA:3378
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Hydrops fetalis	ORPHA:766
Gaucher Disease Type 1	Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Ascites, Abnormal myocardium ...	ORPHA:77259
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Pediatric Systemic Lupus Erythematosus	Pericardial effusion, Raynaud phenomenon, Pleural effusion, Edema, Ascites	ORPHA:93552
Congenital Disorder Of Glycosylation, Type Ih	Perimembranous ventricular septal defect, Failure to thrive, Hepatomegaly, Elevated circulating c...	OMIM:608104
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon...	OMIM:300539
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Aicardi-Goutieres Syndrome 9	Pericardial effusion, Left ventricular hypertrophy, Hypertension, Pericarditis, Edema, Increased ...	OMIM:619487
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites, Hematochezia	OMIM:618183
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Juvenile Idiopathic Arthritis	Pericardial effusion, Joint swelling	ORPHA:92
Lethal Congenital Contracture Syndrome 10	Fetal akinesia sequence, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomegal...	OMIM:617022
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis	OMIM:616738
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion	OMIM:613011
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral edema, Nonimmune hydrops fe...	OMIM:607823
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating alpha-fetoprotein concentration, Dextrocardia, Situs inversus t...	OMIM:613095
Tubulointerstitial Nephritis With Uveitis	Elevated circulating creatinine concentration	OMIM:607665
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ventricular septal defect, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pericardi...	OMIM:235510
Gaucher Disease Type 3	Pulmonary arterial hypertension, Mitral valve calcification, Hydrops fetalis, Pericardial effusio...	ORPHA:77261
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigable weakness, Fatigable weakness of neck muscles, Cachexia, Elevated circulating creatine k...	ORPHA:42
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hyperuricemia, Enlarged kidney, Failure to thrive, Hypoglycemia, Hypoglycemic seizures, Hyperlipi...	ORPHA:79259
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Edema, Pleural effusion	OMIM:617822
Mosaic Trisomy 9	Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Atrial sept...	ORPHA:99776
Gm1 Gangliosidosis	Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Congestive heart failure, A...	ORPHA:354
Molybdenum Cofactor Deficiency, Complementation Group C	Hypertaurinemia, Increased urinary taurine, Hypocystinemia, Hypouricemia	OMIM:615501
Osteogenesis Imperfecta, Type Ii	Premature birth, Nonimmune hydrops fetalis, Pulmonary insufficiency, Congestive heart failure	OMIM:166210
Hypomagnesemia 3, Renal	Failure to thrive, Hyperuricemia, Hypomagnesemia	OMIM:248250
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Cardiomegaly, Decreased plasma free carnitine, Enlarged kidney, Nonket...	OMIM:608836
Poems Syndrome	Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion, Edema, Ascites	ORPHA:2905
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Congenital Disorder Of Glycosylation, Type Ia	Pericardial effusion, Nonimmune hydrops fetalis, Pericarditis, Edema, Abnormality of the amniotic...	OMIM:212065
Nephronophthisis 2	Elevated circulating creatinine concentration, Situs inversus totalis, Enlarged kidney, Hyperkalemia	OMIM:602088
Phosphoribosylpyrophosphate Synthetase Superactivity	Small for gestational age, Hyperuricemia	OMIM:300661
Cholestasis, Progressive Familial Intrahepatic, 5	Pleural effusion, Ascites, Nonimmune hydrops fetalis	OMIM:617049
Renal Tubular Acidosis, Distal, 1	Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia	OMIM:179800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Single umbilical artery, Increased placental thickness, Hydrops fetalis, Abnormal heart morphology	ORPHA:1865
Platyspondylic Dysplasia, Torrance Type	Polyhydramnios, Hydrops fetalis	ORPHA:85166
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pulmonary edema, Pericardial effusion, Dilated cardiomyopathy, Congestive h...	ORPHA:73224
Q Fever	Endocarditis, Pericardial effusion, Pericarditis, Pleural effusion, Abnormal left ventricular fun...	ORPHA:781
Mgat2-Cdg	Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Reflex asystolic syncope, A...	ORPHA:79329
Gaucher Disease, Perinatal Lethal	Polyhydramnios, Desquamation of skin soon after birth, Decreased fetal movement, Nonimmune hydrop...	OMIM:608013
Glycogen Storage Disease Ic	Hypoglycemia, Hyperuricemia, Hyperlipidemia, Hepatomegaly	OMIM:232240
S-Adenosylhomocysteine Hydrolase Deficiency	Hydrops fetalis, Cardiomyopathy	ORPHA:88618
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Mucopolysaccharidosis Type 7	Ascites, Hydrops fetalis, Lymphedema	ORPHA:584
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Cardiac-Urogenital Syndrome	Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar...	OMIM:618280
Juvenile Nephropathic Cystinosis	Aminoaciduria, Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Failure to thrive,...	ORPHA:411634
Alg9-Cdg	Hydrops fetalis, Ventricular septal defect, Pericardial effusion, Abnormal left ventricular outfl...	ORPHA:79328
Wilson Disease	Aminoaciduria, Glycosuria, Limb dystonia, Decreased circulating ceruloplasmin concentration, Incr...	OMIM:277900
Campomelia, Cumming Type	Oligohydramnios, Hydrops fetalis, Lymphedema	ORPHA:1318
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Diabetes mellitus, Hyperuricemia	ORPHA:93111
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Transient hyperlipi...	OMIM:255120
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pericardial effusion, Pleural effusion, Epistaxis, Subconjunctival hemorrhage	ORPHA:464329
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Galactosialidosis	Conjunctival telangiectasia, Nonimmune hydrops fetalis	OMIM:256540
Mucopolysaccharidosis, Type Vii	Hydrops fetalis, Abnormal heart valve morphology, Cardiomyopathy	OMIM:253220
Cockayne Syndrome	Hyperuricemia, Cachexia, Intention tremor, Diabetes mellitus, Action tremor, Hepatomegaly, Spleno...	ORPHA:191
Fibrochondrogenesis 1	Patent foramen ovale, Hydrops fetalis, Stillbirth	OMIM:228520
Achondrogenesis, Type Ia	Polyhydramnios, Hydrops fetalis, Stillbirth, Increased nuchal translucency, Absence of stomach bu...	OMIM:200600
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Aapoaiv Amyloidosis	Cardiac amyloidosis, Diabetes mellitus, Hypertrophic cardiomyopathy, Hyperlipidemia, Elevated cir...	ORPHA:439232
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevated circu...	ORPHA:230
Primary Fanconi Renotubular Syndrome	Weight loss, Glycosuria, Decreased plasma carnitine, Hypophosphatemia, Hypokalemia, Generalized a...	ORPHA:3337
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Polyhydramnios, Atrioventricular canal defect, Nonimmune hydrops fetalis, Pleural effusion, Paten...	OMIM:265380
Fraser Syndrome 3	Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Oligohydramnios, Stillbirth,...	OMIM:617667
Familial Osteodysplasia, Anderson Type	Hyperuricemia	ORPHA:2769
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis	OMIM:618265
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hydrops fetalis	OMIM:614091
Schneckenbecken Dysplasia	Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth	OMIM:269250
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Lymphedema, Nonimmune hydrops fetalis, Facial telangiectasia in butterfly midface distribution, P...	OMIM:137940
Crimean-Congo Hemorrhagic Fever	Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h...	ORPHA:99827
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Hepatomegaly	OMIM:614376
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Weight loss	ORPHA:90060
Hereditary Xanthinuria	Hyperxanthinemia, Hypouricemia	ORPHA:3467
Hereditary Renal Hypouricemia	Increased blood urea nitrogen, Hypouricemia	ORPHA:94088
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Hydrops fetalis, Atrial septal defect	OMIM:616546
Gm1 Gangliosidosis Type 1	Abnormal placenta morphology, Hydrops fetalis, Cardiomyopathy	ORPHA:79255
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612926
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-...	ORPHA:91547
Eisenmenger Syndrome	Atrioventricular canal defect, Hyperuricemia, Bacterial endocarditis, Aortopulmonary window, Vent...	ORPHA:97214
Hennekam Syndrome	Hydrops fetalis, Lymphedema, Pericardial effusion, Chylothorax, Ascites	ORPHA:2136
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Tremor, Elevated circulating creatinine concentration	OMIM:274150
Aicardi-Goutieres Syndrome 7	Pericardial effusion, Hypertension, Oligohydramnios, Hypertrophic cardiomyopathy, Edema, Hemateme...	OMIM:615846
Gitelman Syndrome	Abnormal T-wave, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-to-normal blood ...	ORPHA:358
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss, Hepatosplenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased...	ORPHA:85450
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Exaggerated startle response	OMIM:618201
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612925
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Pulmonary embolism, Hydrops fetalis, Dilated cardiomyopathy, Sub...	ORPHA:79282
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Farber Disease	Ascites, Hydrops fetalis, Joint swelling	ORPHA:333
Lethal Ataxia With Deafness And Optic Atrophy	Hypouricemia	ORPHA:1187
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Hydrops fetalis	OMIM:613673
Structural Heart Defects And Renal Anomalies Syndrome	Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Partial anomalous pulmonary ...	OMIM:617478
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Congenitally Uncorrected Transposition Of The Great Arteries	Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter...	ORPHA:860
Greenberg Dysplasia	Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Echogenic fetal bowel, Stillbirth, La...	OMIM:215140
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia	ORPHA:760
Generalized Arterial Calcification Of Infancy	Pulmonary arterial hypertension, Retinal hemorrhage, Polyhydramnios, Hydrops fetalis, Ventricular...	ORPHA:51608
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Tsh-Secreting Pituitary Adenoma	Hypotension, Pericardial effusion, Ventricular arrhythmia, Supraventricular arrhythmia, Congestiv...	ORPHA:91347
Molybdenum Cofactor Deficiency, Complementation Group B	Opisthotonus, Increased urinary taurine, Hypouricemia	OMIM:252160
Molybdenum Cofactor Deficiency, Complementation Group A	Opisthotonus, Increased urinary taurine, Hypouricemia	OMIM:252150
Chédiak-Higashi Syndrome	Epistaxis, Edema, Pleural effusion, Pericardial effusion	ORPHA:167
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation	OMIM:263520
Multiple Myeloma	Weight loss, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Sple...	ORPHA:29073
Lymphangioleiomyomatosis	Lymphedema, Chylopericardium, Chylothorax, Gastrointestinal hemorrhage, Ascites	ORPHA:538
Aymé-Gripp Syndrome	Pericarditis, Pericardial effusion, Patent ductus arteriosus	ORPHA:1272
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Ventricular septal defect	ORPHA:268249
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Fetal distress, Atrial septal defect, ...	OMIM:300868
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Classical-Like Ehlers-Danlos Syndrome Type 2	Pericardial effusion, Mitral valve prolapse	ORPHA:536532
Pyruvate Kinase Deficiency Of Red Cells	Nonimmune hydrops fetalis	OMIM:266200
Anemia, Congenital Dyserythropoietic, Type Ia	Hydrops fetalis	OMIM:224120
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
Oligomeganephronia	Small for gestational age, Elevated circulating creatinine concentration, Secundum atrial septal ...	ORPHA:2260
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Polyhydramnios, Hydrops fetalis, Edema, Fetal polyuria, Premature birth	OMIM:602522
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration...	ORPHA:36234
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:154230
Stiff Person Spectrum Disorder	Diabetes mellitus, Exaggerated startle response	ORPHA:3198
Myhre Syndrome	Patent ductus arteriosus, Ventricular septal defect, Pericardial effusion, Hypertension, Atrial s...	OMIM:139210
Gaucher Disease	Pulmonary arterial hypertension, Abnormal pericardium morphology, Mitral valve calcification, Hyd...	ORPHA:355
Cranioectodermal Dysplasia 2	Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Hydrops fetalis, Left ventricular...	OMIM:613610
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceridemia	OMIM:618885
Pearson Syndrome	Hydrops fetalis, Corneal stromal edema, Cardiac conduction abnormality, Abnormal heart morphology...	ORPHA:699
Hereditary Elliptocytosis	Hydrops fetalis	ORPHA:288
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Hydrops fetalis, Premature birth	ORPHA:50945
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration, Cardiomyopathy	ORPHA:247691
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Igg4-Related Retroperitoneal Fibrosis	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:49041
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Hype...	ORPHA:3472
Multiple Pterygium Syndrome, Escobar Variant	Decreased fetal movement, Hydrops fetalis	OMIM:265000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, ...	OMIM:253800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:223900
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration, Mitral valve prolapse, Enlarged kidney	ORPHA:730
Stiff-Person Syndrome	Diabetes mellitus, Exaggerated startle response, Opisthotonus	OMIM:184850
Aromatic L-Amino Acid Decarboxylase Deficiency	Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy...	OMIM:608643
Fetal Akinesia Deformation Sequence 1	Polyhydramnios, Fetal akinesia sequence, Short umbilical cord, Decreased fetal movement, Nonimmun...	OMIM:208150
Leukodystrophy, Hypomyelinating, 13	Failure to thrive, Exaggerated startle response	OMIM:616881
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:154
Sarcoidosis, Susceptibility To, 1	Pulmonary arterial hypertension, Pleural effusion, Pericardial effusion	OMIM:181000
Pearson Marrow-Pancreas Syndrome	Hydrops fetalis, Dehydration	OMIM:557000
Sandhoff Disease, Infantile Form	Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly	ORPHA:309155
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Cardiomyopathy, Dilated, 1Y	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas...	OMIM:611878
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Sandhoff Disease	Cardiomegaly, Exaggerated startle response, Hepatomegaly, Hepatosplenomegaly	OMIM:268800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Vasculitis	ORPHA:3261
Phocomelia, Schinzel Type	Hydrops fetalis	ORPHA:2879
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Asparagine Synthetase Deficiency	Failure to thrive, Exaggerated startle response	OMIM:615574
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Marburg Hemorrhagic Fever	Hypokalemia, Elevated circulating creatine kinase concentration, Pericarditis, Hypoglycemia, Hype...	ORPHA:99826
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Exaggerated startle response	OMIM:617864
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Exaggerated startle response, Hepatosplenomegaly, Tremor, La...	ORPHA:845
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo...	ORPHA:90038
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Blackfan-Diamond Anemia	Abnormal heart morphology, Nonimmune hydrops fetalis, Atrial septal defect, Ventricular septal de...	ORPHA:124
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Niemann-Pick Disease Type C	Fetal ascites, Ascites, Hydrops fetalis	ORPHA:646
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Biliary, Renal, Neurologic, And Skeletal Syndrome	Atrioventricular canal defect, Patent foramen ovale, Unbalanced atrioventricular canal defect, Ve...	OMIM:619534
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperphosphatemia, Decreased body weight, Hyperkal...	ORPHA:340
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Exaggerated startle response, Tremor	OMIM:618056
Hepatoerythropoietic Porphyria	Edema, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis	ORPHA:95159
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Weight loss, Enlarged kidney, Pericarditis, Elevated cir...	ORPHA:449395
Plaa-Associated Neurodevelopmental Disorder	Failure to thrive, Exaggerated startle response, Dystonia	ORPHA:521426
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Congenital Erythropoietic Porphyria	Edema, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis	ORPHA:79277
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Pancreatic hyperplasia, Elevat...	ORPHA:99829
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Polyhydramnios, Patent foramen ovale, Hydrops fetalis, Ventricul...	OMIM:216340
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Failure to thrive, Exaggerated startle response	OMIM:617527
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-reactive pro...	ORPHA:91500
Pmm2-Cdg	Lymphedema, Pericardial effusion, Intracranial hemorrhage, Angina pectoris, Pericarditis, Hypertr...	ORPHA:79318
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hydrops fetalis	ORPHA:93271
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent foramen ovale, Exaggerated startle response, Ventricular septal defect, Bicuspid aortic va...	ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Ventricular septal defect, Atrial 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 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
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

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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

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