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
preweaning lethality, complete penetrance Tpm1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
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 circulating creatinine level Tpm1tm1a(EUCOMM)Wtsi HET Early adult 4.16×10-06
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
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
abnormal glucose homeostasis Tpm1tm1a(EUCOMM)Wtsi HET Early adult 6.66×10-07

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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.

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

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

MGI Allele Allele Type Produced
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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