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Gene: Tpm1 MGI:98809

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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Tpm1tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Tpm1tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Tpm1tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Tpm1tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Tpm1tm1a(EUCOMM)Wtsi
HET, Male, WTSI

View all 80 images

Tpm1tm1a(EUCOMM)Wtsi
tail skin, HET, Female, WTSI
Tpm1tm1a(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.

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
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:154
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... 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
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis ORPHA:295
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion OMIM:619462
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... ORPHA:60041
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... OMIM:619433
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... ORPHA:45452
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Hypoglycemia, Hyperuricemia OMIM:261750
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Hyperuricemia OMIM:308950
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... ORPHA:2414
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... 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, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, Hypertrophic cardi... OMIM:618815
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios ORPHA:163596
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... ORPHA:3405
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... OMIM:614702
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Obesity, Hyperuricemia, Hypercholesterolemia, Action tremor ORPHA:77296
Diffuse Neonatal Hemangiomatosis
Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites 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
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Portal hypertension, Edema, Hydrops fetalis, Cardiomyop... OMIM:232500
Transaldolase Deficiency
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Atrial septal defect ORPHA:101028
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hyperuricemia ORPHA:3222
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Lesch-Nyhan Syndrome
Hyperuricemia ORPHA:510
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Failure to thrive, Bicuspid aortic valve, Tremor, Decreased serum creatinin... OMIM:617744
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... OMIM:601927
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension OMIM:619003
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Fa... OMIM:613845
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis OMIM:608540
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Edema, Pulmonary embolism, Congestive heart failure, Patent ductus a... ORPHA:90308
Infantile Sialic Acid Storage Disease
Premature birth, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Ascites OMIM:269920
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r... ORPHA:79083
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth OMIM:600972
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth OMIM:215045
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia OMIM:246450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia OMIM:613092
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hydrops fetalis, Polyhydramnios ORPHA:2204
Mulibrey Nanism
Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Pericardial constri... OMIM:253250
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... ORPHA:292
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Obesity ORPHA:261222
Burkitt Lymphoma
Hyperuricemia ORPHA:543
Congenital Disorder Of Glycosylation, Type Il
Decreased fetal movement, Edema, Pericardial effusion, Abnormal cardiac septum morphology, Ascites OMIM:608776
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Glycosuri... OMIM:616026
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Preeclampsia
Type I diabetes mellitus, Increased body mass index, Elevated circulating creatinine concentratio... ORPHA:275555
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... ORPHA:69735
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary... ORPHA:555874
Xanthinuria, Type Ii
Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia OMIM:603592
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Dystonia ORPHA:79233
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperb... ORPHA:348
Neuraminidase Deficiency
Cardiomegaly, Facial edema, Hydrops fetalis, Cardiomyopathy, Ascites OMIM:256550
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia ORPHA:134
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Sialidosis Type 2
Ascites, Hydrops fetalis, Pedal edema ORPHA:87876
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant di... OMIM:203800
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Elevated circulating creatinine concentration, Small for gestationa... OMIM:616733
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Fetal Gaucher Disease
Decreased fetal movement, Fetal akinesia sequence, Hydrops fetalis, Intracranial hemorrhage, Stil... ORPHA:85212
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Mitr... OMIM:620244
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Hyperuricemia, Hprt-Related
Hyperuricemia OMIM:300323
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... OMIM:239850
Combined Oxidative Phosphorylation Deficiency 57
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Fetal p... OMIM:620167
Meckel Syndrome, Type 8
Pericardial effusion, Anhydramnios OMIM:613885
Cystinuria
Hyperuricemia ORPHA:214
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... ORPHA:26793
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, Type I diabe... ORPHA:199299
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Pleural effusion, Singl... OMIM:616897
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis OMIM:618839
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Fetal akinesia sequence, Congesti... ORPHA:367
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Hydroxyprolinuria, Failure to thrive OMIM:239000
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Dilated cardiomyopathy, Hyperammonemia, Weight loss, Recur... ORPHA:20
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe... ORPHA:199241
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Decreased fetal movement, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular sep... OMIM:620070
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc... ORPHA:90041
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ... OMIM:212093
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia OMIM:614227
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hyperuricemia, Fasting hypoglycemia, Enlarged kidney OMIM:232200
Lesch-Nyhan Syndrome
Choreoathetosis, Dystonia, Hyperuricemia, Opisthotonus OMIM:300322
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fl... OMIM:609015
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... OMIM:616843
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Small vessel... ORPHA:36412
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Acute Adrenal Insufficiency
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating renin... ORPHA:95409
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Generalized aminoaciduria, Hypophosphatemia, Glycosuria, Hypokalemia,... OMIM:227810
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411536
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis ORPHA:834
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating guanosine concentration, Tremor, Splenomegaly, Failure to thr... OMIM:613179
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria OMIM:615605
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hepatomegaly, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, H... OMIM:229600
Glycogen Storage Disease Ib
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperlipidemia, Hyperuricemia, Enlarged kidney OMIM:232220
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Tremor OMIM:612736
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema ORPHA:79126
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hype... ORPHA:94093
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir... OMIM:137920
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetali... OMIM:230500
Alg8-Cdg
Premature birth, Edema, Hydrops fetalis, Ascites, Oligohydramnios ORPHA:79325
Addison Disease
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating renin... ORPHA:85138
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411543
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Achondrogenesis, Type Ii
Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:200610
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... ORPHA:137667
Trisomy 1Q
Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosu... ORPHA:261344
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... OMIM:212140
Gaucher Disease Type 1
Pericardial effusion, Abnormal myocardium morphology, Pedal edema, Pulmonary arterial hypertensio... ORPHA:77259
Pediatric Systemic Lupus Erythematosus
Edema, Raynaud phenomenon, Pericardial effusion, Pleural effusion, Ascites ORPHA:93552
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Hypertension, Increased blood pre... OMIM:619487
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Elevated circulating creatinine concentration, Perimembranous ventricular septal de... OMIM:608104
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Trisomy 13
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis ORPHA:3378
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, Hydrops fetal... OMIM:617022
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cachexia, Cardiom... ORPHA:42
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites OMIM:618183
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ... OMIM:607823
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Abnormal myoca... ORPHA:77261
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... OMIM:235510
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... OMIM:613095
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Hyperuri... ORPHA:79259
Hypomagnesemia 3, Renal
Failure to thrive, Hyperuricemia, Hypomagnesemia OMIM:248250
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Molybdenum Cofactor Deficiency, Complementation Group C
Increased urinary taurine, Hypocystinemia, Hypouricemia, Hypertaurinemia OMIM:615501
Gm1 Gangliosidosis
Ventricular septal defect, Premature birth, Congestive heart failure, Patent ductus arteriosus, H... ORPHA:354
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Polyhydramnios, Patent ... ORPHA:99776
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis OMIM:166210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... OMIM:608836
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy, Abnormality... OMIM:212065
Nephronophthisis 2
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney OMIM:602088
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Poems Syndrome
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites ORPHA:2905
Phosphoribosylpyrophosphate Synthetase Superactivity
Small for gestational age, Hyperuricemia OMIM:300661
Glycogen Storage Disease Ic
Hepatomegaly, Hyperlipidemia, Hypoglycemia, Hyperuricemia OMIM:232240
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Increased placental thickness, Hydrops fetalis, Abnormal heart morphology ORPHA:1865
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vasculitis, End... ORPHA:781
Cardiac-Urogenital Syndrome
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... ORPHA:79329
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis ORPHA:88618
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Mucopolysaccharidosis Type 7
Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Wilson Disease
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Tremor, ... OMIM:277900
Alg9-Cdg
Thickened nuchal skin fold, Decreased fetal movement, Tricuspid regurgitation, Ventricular septal... ORPHA:79328
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... ORPHA:411634
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Hyperuricemia ORPHA:93111
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrhage, Pleural effusion ORPHA:464329
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Cockayne Syndrome
Hepatomegaly, Diabetes mellitus, Cachexia, Action tremor, Splenomegaly, Hyperuricemia, Intention ... ORPHA:191
Aapoaiv Amyloidosis
Diabetes mellitus, Hyperlipidemia, Elevated circulating creatinine concentration, Hypertrophic ca... ORPHA:439232
Galactosialidosis
Conjunctival telangiectasia, Nonimmune hydrops fetalis OMIM:256540
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... ORPHA:230
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... OMIM:200600
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... OMIM:617667
Fibrochondrogenesis 1
Stillbirth, Patent foramen ovale, Hydrops fetalis OMIM:228520
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Weight l... ORPHA:3337
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Telangiectasia of extensor surfaces, Faci... OMIM:137940
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... OMIM:265380
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis OMIM:618265
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Pericardial effusio... ORPHA:99827
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Elevated circulating creatinine concentration OMIM:614376
Schneckenbecken Dysplasia
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Hereditary Xanthinuria
Hypouricemia, Hyperxanthinemia ORPHA:3467
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Abnormal heart valve morphology, Hydrops fetalis OMIM:253220
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Hydrops fetalis, Abnormal placenta morphology ORPHA:79255
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Hennekam Syndrome
Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax, Ascites ORPHA:2136
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Eisenmenger Syndrome
Hepatomegaly, Ventricular septal defect, Elevated circulating C-reactive protein concentration, A... ORPHA:97214
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Aicardi-Goutieres Syndrome 7
Edema, Hematemesis, Pericardial effusion, Vasculitis, Hematochezia, Hypertension, Hypertrophic ca... OMIM:615846
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Farber Disease
Joint swelling, Ascites, Hydrops fetalis ORPHA:333
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... ORPHA:79282
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia ORPHA:1187
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Low-to-normal blood pressure, Sy... ORPHA:358
Molybdenum Cofactor Deficiency, Complementation Group A
Elevated urinary S-sulfocysteine level, Hypouricemia, Increased urinary taurine, Opisthotonus OMIM:252150
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:613673
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia ORPHA:760
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati... OMIM:617478
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Molybdenum Cofactor Deficiency, Complementation Group B
Increased urinary taurine, Hypouricemia, Opisthotonus OMIM:252160
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po... ORPHA:51608
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro... ORPHA:29073
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Hydrops fetalis, Polyhydramnios OMIM:616546
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Epistaxis, Edema ORPHA:167
Congenital Myopathy 22B, Severe Fetal
Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, Pleural... OMIM:620369
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis OMIM:263520
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites ORPHA:538
Aymé-Gripp Syndrome
Patent ductus arteriosus, Pericarditis, Pericardial effusion ORPHA:1272
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis ORPHA:268249
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Patent ductus arteriosus, Hydro... OMIM:300868
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse ORPHA:536532
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis OMIM:266200
Oligomeganephronia
Secundum atrial septal defect, Elevated circulating creatinine concentration, Small for gestation... ORPHA:2260
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis OMIM:224120
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... ORPHA:36234
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Hypertension, Atrial s... OMIM:139210
Gaucher Disease
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... ORPHA:355
Cranioectodermal Dysplasia 2
Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Hypertension, Atrial septal defect, Le... OMIM:613610
Pearson Syndrome
Cardiac conduction abnormality, Hydrops fetalis, Dehydration, Abnormal heart morphology, Corneal ... ORPHA:699
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Opisthotonus OMIM:184850
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cardiomyopathy, Elevated circulating creatinine concentration ORPHA:247691
Igg4-Related Retroperitoneal Fibrosis
Weight loss, Elevated circulating creatinine concentration, Elevated circulating C-reactive prote... ORPHA:49041
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:50945
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f... ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:253800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Hydrops fetalis OMIM:265000
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Torticollis, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Failure to thrive OMIM:616881
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Enlarged kidney, Mitral valve prolapse ORPHA:730
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:154
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion OMIM:181000
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly ORPHA:309155
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Dehydration OMIM:557000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Atrial septal defect, Exaggerated startle response, Patent foramen ovale OMIM:620327
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Exaggerated startle response, Cardiomegaly OMIM:268800
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Hydrops fetalis ORPHA:3261
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Hepatosplenomegaly, Dy... ORPHA:845
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Failure to thrive OMIM:617864
Marburg Hemorrhagic Fever
Pericarditis, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, ... ORPHA:99826
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Diamond-Blackfan Anemia
Atrial septal defect, Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morpho... ORPHA:124
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Failure to thrive, Hypoasparaginemia OMIM:615574
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Niemann-Pick Disease Type C
Ascites, Hydrops fetalis, Fetal ascites ORPHA:646
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration, Decreased body we... ORPHA:340
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Hepatoerythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:95159
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Failure to thrive, Cor triatriatum, Ventricular septal defect, Dextrocardia, Conjug... OMIM:619534
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Igg4-Related Kidney Disease
Pericarditis, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... ORPHA:449395
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Failure to thrive, 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
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:79277
Yellow Fever
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat... ORPHA:99829
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Failure to thrive OMIM:617527
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Yunis-Varon Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardio... OMIM:216340
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... ORPHA:91500
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Pmm2-Cdg
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarc... ORPHA:79318
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Bicuspid aortic valve, Ventricular septal defect, Decreased serum i... ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Exaggerated startle response, Ventricular septal defect OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tpm1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tpm1.

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

Title Journal IMPC Allele PubMed ID
Lens-specific conditional knockout of tropomyosin 1 gene in mice causes abnormal fiber differentiation and lens opacity. Mechanisms of ageing and development (April 2021) Tpm1tm1c(EUCOMM)Wtsi Tpm1tm1a(EUCOMM)Wtsi 33862037
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

Order Mouse and ES Cells

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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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