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Gene: Lactb MGI:1933395

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Gene Summary

Name:
lactamase, beta
Synonyms:
Mrpl56

Order Alleles

IMPC Data Collections

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
decreased bone mineral content Lactbtm1.1(KOMP)Mbp HOM Early adult 8.98×10-05
decreased circulating cholesterol level Lactbtm1.1(KOMP)Mbp HOM Early adult 8.37×10-08
abnormal retina blood vessel morphology Lactbtm1.1(KOMP)Mbp HOM Early adult 2.50×10-08
decreased circulating HDL cholesterol level Lactbtm1.1(KOMP)Mbp HOM Early adult 6.76×10-06
enlarged heart Lactbtm1.1(KOMP)Mbp HOM Early adult 0.00
abnormal retina vasculature morphology Lactbtm1.1(KOMP)Mbp HOM Early adult 2.11×10-09
abnormal retina morphology Lactbtm1.1(KOMP)Mbp HOM Early adult 9.18×10-08
persistence of hyaloid vascular system Lactbtm1.1(KOMP)Mbp HOM Early adult 2.54×10-08
increased circulating bilirubin level Lactbtm1.1(KOMP)Mbp HOM Early adult 4.37×10-05

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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.

Electrocardiogram (ECG)

Waveform Image

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Lactb 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Malaria
Hyperbilirubinemia, Retinopathy, Elevated circulating C-reactive protein concentration ORPHA:673
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentratio... OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... OMIM:619868
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal degeneration ORPHA:3363
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Retinal dystrophy, Elevated circulating phytanic acid concentration, Osteoporosis, ... OMIM:266510
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Osteopenia, Hypocholesterolemia OMIM:610539
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia OMIM:179700
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:237800
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Ethanolaminosis
Cardiomegaly OMIM:227150
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... OMIM:619170
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperlipidemia, Splenomegaly OMIM:214900
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Hepatomegaly, Rickets OMIM:619232
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia OMIM:607765
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:269920
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Squalene Synthase Deficiency
Bicuspid aortic valve, Optic nerve hypoplasia, Increased circulating farnesol concentration, Decr... OMIM:618156
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin ORPHA:890
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin ORPHA:2924
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Increased total iron binding capacity, Increased serum bile acid conc... OMIM:616278
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Cardiomegaly ORPHA:88643
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... ORPHA:247598
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration OMIM:243300
Hijazi-Reis Syndrome
Iris coloboma, Hyperbilirubinemia OMIM:301094
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Retinal dystrophy, Hyperbilirubinemia ORPHA:713
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... OMIM:614300
Chylomicron Retention Disease
Hypertriglyceridemia, Retinopathy, Steatorrhea, Hypocholesterolemia ORPHA:71
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... ORPHA:766
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Rod-cone dystroph... OMIM:266500
Abetalipoproteinemia
Osteopenia, Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Hepatom... ORPHA:14
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Hyperbilirubinemia, Steatorrhea OMIM:235555
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic ... OMIM:614702
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets OMIM:211600
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale, Hypocholesterolemia OMIM:610883
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Optic atrophy, Decrease... ORPHA:96180
Harderoporphyria
Splenomegaly, Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hepatome... OMIM:618892
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Conjugated hyperbilirubinemia, Rickets, Abnormal serum bile acid concentration, Hyp... ORPHA:79303
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... OMIM:618528
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Atrial septal defect, Elevated circulating long chain fatty acid concentratio... OMIM:614886
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Hepatomegaly, Increased bone mineral density, Splenomegaly, Cranial hyperostos... OMIM:259720
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Thickened cortex of long bones, Myocardial fibrosis, Pigmentary retin... OMIM:253250
Spherocytosis, Type 4
Splenomegaly, Hyperbilirubinemia OMIM:612653
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia ORPHA:95717
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly ORPHA:858
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia, Hepatomegaly OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... OMIM:619662
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the upper limbs, Retinal hemorrhage, Osteolysis, Abnormal heart mor... ORPHA:464321
Spherocytosis, Type 1
Splenomegaly, Hyperbilirubinemia OMIM:182900
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Vitreous floaters ORPHA:85447
Spherocytosis, Type 2
Splenomegaly, Hyperbilirubinemia OMIM:616649
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hepatomegaly, Hyperbilirubinemia OMIM:214950
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly ORPHA:234
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, Hypoalbuminemia, St... OMIM:212065
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly OMIM:619064
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Increased total bilirubin ORPHA:90037
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Hyperbilirubinemia OMIM:235700
Hsd10 Disease, Infantile Type
Cardiomegaly, Optic atrophy, Hyperammonemia, Hypertrophic cardiomyopathy, Rod-cone dystrophy, Ret... ORPHA:391428
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosem... OMIM:227810
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:601847
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Liver Failure, Infantile, Transient
Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Atrial septal de... ORPHA:1667
Alg12-Cdg
Hyponatremia, Retinal detachment, Muscular ventricular septal defect, Biventricular hypertrophy, ... ORPHA:79324
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Hepatomegaly, Ventricular septal defect, Right ventricular hypertr... OMIM:613404
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... ORPHA:95716
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... OMIM:608836
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Epiphyseal stippling, Cherry red spot o... OMIM:256550
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Hyperbilirubinemia, Steatorrhea OMIM:613812
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:185000
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Hepatomegaly, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Splenomegaly, Optic nerve... OMIM:614866
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinem... OMIM:613673
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Hepatoportal Sclerosis
Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... OMIM:603553
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Cystic Echinococcosis
Hepatomegaly, Bone cyst, Hyperbilirubinemia, Abnormal heart morphology ORPHA:400
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:619051
Sickle Cell Anemia
Osteoporosis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ov... OMIM:208085
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Osteoporo... OMIM:235200
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Neonatal hyperbilirubinemia ORPHA:73272
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom... OMIM:618838
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... OMIM:212140
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... OMIM:251880
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Optic disc pallor, Ventricular septal defect, Hypocholesterolemia OMIM:244450
Hereditary Elliptocytosis
Splenomegaly, Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Coloboma, Atrial septal defect, Patent foramen ovale OMIM:618652
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular hypertrophy, Coro... ORPHA:31150
Fumarase Deficiency
Perimembranous ventricular septal defect, Optic atrophy, Hyperbilirubinemia OMIM:606812
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Hepatomegaly, Increased circulating very long-chain fatty acid con... OMIM:614887
Hereditary Spherocytosis
Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy, Hyperbilirubinemia ORPHA:822
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Neonatal hyperbilirubinemia ORPHA:293939
Anemia, Congenital Dyserythropoietic, Type Ia
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:224120
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Dehydrated Hereditary Stomatocytosis
Splenomegaly, Increased circulating ferritin concentration, Abnormal blood potassium concentratio... ORPHA:3202
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hyperammonemia, Hype... ORPHA:3008
Glycogen Storage Disease Xii
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperbilirubinemi... OMIM:611881
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia, Hepatomegaly ORPHA:348
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c... ORPHA:247691
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Wilson Disease
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Sple... OMIM:277900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilir... OMIM:300908
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Retinal degeneration OMIM:208500
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration, Hyper... ORPHA:567983
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:71275
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... OMIM:614643
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Dubowitz Syndrome
Rod-cone dystrophy, Iris coloboma, Hypocholesterolemia OMIM:223370
Graft Versus Host Disease
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Lathosterolosis
Osteoporosis, Hepatosplenomegaly, Abnormal circulating cholesterol concentration, Hyperbilirubine... OMIM:607330
Hardikar Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Partial anomalous pulmonary venous return,... OMIM:301068
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyr... ORPHA:90674
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria OMIM:252920
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... ORPHA:57777
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... OMIM:609049
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o... OMIM:239850
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Constrictive... ORPHA:90363
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:201475
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperkalemia, Splenomegaly OMIM:608885
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Hypothyroidism Due To Tsh Receptor Mutations
Delayed proximal femoral epiphyseal ossification, Increased circulating thyroglobulin level, Neon... ORPHA:90673
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo... ORPHA:186
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... ORPHA:465508
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal de... OMIM:619534
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Reynolds Syndrome
Calcinosis, Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Steatorrhea OMIM:613471
Cranioectodermal Dysplasia 2
Hepatomegaly, Craniosynostosis, Splenomegaly, Hyperbilirubinemia, Atrial septal defect, Left vent... OMIM:613610
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy, Decreased skull... OMIM:616897
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... OMIM:618278
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Xanthelasma, Splenomegaly, Hepatomegaly ORPHA:30391
Liver Disease, Severe Congenital
Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat... OMIM:619991
Caroli Disease
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal circulating alpha-fetoprotein concentration... ORPHA:53035
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Ventricular septal defect, Coloboma, Hyperbilirubinemia, Chorioretinal col... OMIM:619475
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Hyperbilirubinemia, Steatorrhea OMIM:557000
Caroli Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia ORPHA:480520
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Optic atrophy, Cardiomegaly OMIM:619259
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P... ORPHA:163956
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Optic disc coloboma, Unconjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ovale,... OMIM:620186
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Cardiomegaly OMIM:618886
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Epiphyseal stippling, Hypoalbuminemia, Ele... OMIM:270400
Craniofaciofrontodigital Syndrome
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:363705
Congenital Erythropoietic Porphyria
Osteopenia, Abnormal circulating porphyrin concentration, Splenomegaly, Osteoporosis, Osteolysis,... ORPHA:79277
Fructose Intolerance, Hereditary
Hepatomegaly, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Degcags Syndrome
Osteopenia, Hepatomegaly, Ventricular septal defect, Craniosynostosis, Hepatosplenomegaly, Hyperb... OMIM:619488
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Cardiomegaly OMIM:613320
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Hepatosplenomegaly ORPHA:168577
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Neurooculorenal Syndrome
Decreased circulating cortisol level, Dextrocardia, Conjugated hyperbilirubinemia, Mitral valve p... OMIM:620305
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Unconjugated hy... OMIM:613658
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Retinopathy, Cardiomegaly OMIM:603903
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal defect, Left ventric... ORPHA:79330
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Amyloid deposition in the vitreous humor, Cardiomegaly OMIM:105210
Mucopolysaccharidosis Type 3
Hepatomegaly, Craniofacial hyperostosis, Cardiomegaly, Splenomegaly, Optic atrophy, Reduced bone ... ORPHA:581
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Rod-cone dystrophy, Neonatal hyperbilirubinemia OMIM:300896
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Delayed epiphyseal ossification, H... OMIM:210710
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... OMIM:620306
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Pulmonic stenosis, Supravalvar pulm... OMIM:620185
Senior-Boichis Syndrome
Hepatosplenomegaly, Increased total bilirubin ORPHA:84081
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Craniosynostosis, Cardiomegaly, Osteoporosis, Mitral valve pro... OMIM:245600
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... OMIM:614921
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Bohring-Opitz Syndrome
Retinal atrophy, Cardiomegaly, Optic atrophy, Coloboma, Abnormal cardiac septum morphology ORPHA:97297
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Osteoporosis, Cardiomegaly ORPHA:1517
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Yellow Fever
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat... ORPHA:99829
Fucosidosis
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Cardiomegaly OMIM:230000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Cardiomegaly ORPHA:2463
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Mucolipidosis Ii Alpha/Beta
Osteopenia, Hepatomegaly, Increased serum beta-hexosaminidase, Craniosynostosis, Cardiomegaly, Sp... OMIM:252500
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... ORPHA:637
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Ventricular septal defect, Dextrocar... OMIM:300166
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Osteoporosis, Lef... ORPHA:365
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Optic atrophy, Cardiomegaly ORPHA:137675
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Choroidal neovascularization, Osteomalacia, Cardiomegaly, Pericardial ef... ORPHA:51608
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Single ... OMIM:157170
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Increased VLDL cholesterol concentration, Conjugated hyp... OMIM:243800
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Norrie Disease
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... ORPHA:649
Beckwith-Wiedemann Syndrome
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Splenomegaly, C... ORPHA:116
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Williams Syndrome
Abnormal endocardium morphology, Osteopenia, Increased bone mineral density, Overriding aorta, Bi... ORPHA:904
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Neuroocular Syndrome
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Lens coloboma, Patent foramen o... OMIM:619539
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... OMIM:256040
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Yunis-Varon Syndrome
Absent sternal ossification, Ventricular septal defect, Cardiomegaly, Decreased skull ossificatio... ORPHA:3472
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Singleton-Merten Syndrome 1
Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O... OMIM:182250

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 Lactb

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 Lactb.

No publications found that use IMPC mice or data for Lactb.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Lactbtm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Lactbtm1.1(KOMP)Mbp Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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