Gene Summary

Name:
tropomyosin 1, alpha
Synonyms:
TM2,  Tm3,  alpha-TM,  Tpm-1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased prepulse inhibition Tpm1tm1a(EUCOMM)Wtsi HET Early adult 1.48×10-05
increased circulating creatine kinase level Tpm1tm1a(EUCOMM)Wtsi HET Early adult 7.31×10-05
increased blood uric acid level Tpm1tm1a(EUCOMM)Wtsi HET Early adult 4.59×10-06
increased heart weight Tpm1tm1a(EUCOMM)Wtsi HET   Early adult 1.73×10-08
increased startle reflex Tpm1tm1a(EUCOMM)Wtsi HET Early adult 4.53×10-07
decreased body weight Tpm1tm1a(EUCOMM)Wtsi HET Early adult 3.72×10-05
increased thermal nociceptive threshold Tpm1tm1a(EUCOMM)Wtsi HET Early adult 9.80×10-05
abnormal glucose homeostasis Tpm1tm1a(EUCOMM)Wtsi HET Early adult 6.66×10-07
increased circulating creatinine level Tpm1tm1a(EUCOMM)Wtsi HET Early adult 4.16×10-06

Download data as:  TSV  XLS

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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

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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.

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

Disease Similarity of
phenotypes
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 Similarity of
phenotypes
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) Tpm1tm1aWtsi 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) Tpm1tm1a(EUCOMM)Wtsi PMC2974211

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MGI Allele Allele Type Produced
Tpm1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tpm1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tpm1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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