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Gene: Slc6a20b MGI:1336891

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Gene Summary

Name:
solute carrier family 6 (neurotransmitter transporter), member 20B
Synonyms:
Slc6a20,  Xtrp3,  XT3,  Sit1

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
increased heart weight Slc6a20bem1(IMPC)J HOM Early adult 6.89×10-07
decreased blood urea nitrogen level Slc6a20bem1(IMPC)J HOM Early adult 3.52×10-05
increased circulating bilirubin level Slc6a20bem1(IMPC)J HOM   Early adult 2.40×10-05
abnormal coat/ hair morphology Slc6a20bem1(IMPC)J HOM Early adult 1.57×10-05
increased mean corpuscular hemoglobin Slc6a20bem1(IMPC)J HOM   Early adult 9.97×10-05
corneal deposits Slc6a20bem1(IMPC)J HOM Early adult 4.81×10-05
persistence of hyaloid vascular system Slc6a20bem1(IMPC)J HOM Early adult 4.88×10-05

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Forepaw

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Sleep Wake

Wake state (bmp file)

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

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Human diseases caused by Slc6a20b 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 Slc6a20b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Iminoglycinuria
ORPHA:42062

The table below shows human diseases predicted to be associated to Slc6a20b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione... OMIM:618660
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomegaly, Conjugat... OMIM:620010
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Malaria
Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:673
Rotor Syndrome
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia ORPHA:3111
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hemolytic anemia, N... OMIM:245900
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals, Retinal degeneration OMIM:210370
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Ocular Cystinosis
Corneal crystals ORPHA:411641
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals, Retinal pigment epithelial mottling OMIM:219900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Edinburgh Malformation Syndrome
Frontal hirsutism, Neonatal hyperbilirubinemia OMIM:129850
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp... OMIM:601775
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:612653
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an... OMIM:235700
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Neonatal hyperbilirubinemia, Pigmentary retinopathy, Long eyelashes, Retinal degenerati... ORPHA:3363
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Nail dystrophy, Elevated circulating apoli... OMIM:205400
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... OMIM:616278
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:182900
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity OMIM:252650
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Hypokalemia, Hypophosphatem... ORPHA:411629
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Red... OMIM:266200
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo... OMIM:618892
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Cystinosis, Nephropathic
Pigmentary retinopathy, Decreased circulating carnitine concentration, Corneal crystals, Retinal ... OMIM:219800
Juvenile Nephropathic Cystinosis
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Elevated circulating creatinine conce... ORPHA:411634
Infantile Sialic Acid Storage Disease
Fair hair, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Conjugated hyperbili... OMIM:269920
Hijazi-Reis Syndrome
Hyperbilirubinemia, Iris coloboma, Astigmatism OMIM:301094
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hyperthreoninemi... ORPHA:247598
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... OMIM:210250
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, H... ORPHA:1067
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolyti... ORPHA:288
Norrie Disease
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... OMIM:310600
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis, Hepatomegaly OMIM:613977
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Retinal detachment, Corneal opacit... OMIM:610202
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Opacification of the corneal stroma, Splenomegaly OMIM:230650
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin ORPHA:2924
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin ORPHA:890
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia OMIM:268150
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Thrombocytopenia, Corneal opacity ORPHA:1980
Fetal Cytomegalovirus Syndrome
Optic atrophy, Retinal hemorrhage, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Conjugat... ORPHA:294
Hereditary Spherocytosis
Spontaneous hemolytic crises, Restrictive cardiomyopathy, Increased mean corpuscular hemoglobin c... ORPHA:822
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Dermoids Of Cornea
Corneal opacity OMIM:304730
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial mottling, ... ORPHA:41751
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Peters anomaly, Tetralogy of Fallot, Frontal upsweep of hair, Axenfeld an... OMIM:612582
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Glycogen Storage Disease Xii
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulat... OMIM:611881
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Secundum atrial septal defect, Elevated circulating S-adenosyl-L-homocysteine... OMIM:614300
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Pigmentary retinopathy, Abnormal heart morphology, Opacification of the corneal stroma,... OMIM:214110
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocyto... OMIM:232800
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Visceromegaly OMIM:256540
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Bile Acid Conjugation Defect 1
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal erosions, Opacification of the cor... OMIM:256800
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Olmsted Syndrome 1
Alopecia universalis, Opacification of the corneal stroma, Nail dystrophy, Corneal opacity, Spars... OMIM:614594
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Cataract, Sparse hair, Alopecia, Coarse hair, Corneal neovascularization, Nail dys... OMIM:158310
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Cataract, Band keratopathy, Hyperamylasemia OMIM:604278
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma OMIM:169550
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, ... ORPHA:848
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decreased HDL chol... ORPHA:425
Pseudo-Torch Syndrome 1
Cataract, Splenomegaly, Patent foramen ovale, Thrombocytopenia, Hepatomegaly, Opacification of th... OMIM:251290
Hypercholesterolemia, Familial, 3
Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Lymphocytosis, Iron deficiency... ORPHA:1667
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Cutis Laxa, Autosomal Recessive, Type Iiia
Cataract, Hypoornithinemia, Hyperammonemia, Low plasma citrulline, Hypoargininemia, Hypoprolinemi... OMIM:219150
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Leukopenia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Hypermanganesemia, Hepatomegaly, Unconjugate... OMIM:613280
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatome... OMIM:608885
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocy... OMIM:259720
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum bile acid concentration, Hepatom... ORPHA:79303
Schimke Immunoosseous Dysplasia
Coarse hair, Fine hair, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Astigmatism, Neutr... OMIM:242900
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus OMIM:244600
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... OMIM:618528
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Optic d... OMIM:619170
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144010
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Cardiomyopathy, Retinal degeneration, Hepatomegaly, Opacific... OMIM:252600
Stickler Syndrome Type 2
Cataract, Retinal detachment, Corneal opacity ORPHA:90654
Axenfeld-Rieger Syndrome, Type 2
Abnormal heart morphology, Microcornea, Opacification of the corneal stroma, Anterior chamber syn... OMIM:601499
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Microphthalmia/Coloboma 12
Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Pigmentary retinopathy, Increased circulating very long-chain fatty acid concentration,... OMIM:614866
Carpenter Syndrome 1
Optic atrophy, Microcornea, Polysplenia, Tetralogy of Fallot, Ventricular septal defect, Transpos... OMIM:201000
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Gomez-Lopez-Hernandez Syndrome
Alopecia, Opacification of the corneal stroma OMIM:601853
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the hairline, Hyperbilirubinemia, Double outlet right ventricle, Atrial septal def... OMIM:614886
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Opacification of the corneal stroma ORPHA:3453
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hemolytic anemia, Hypernatrem... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Hemolytic anem... ORPHA:529799
Hurler Syndrome
Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Splenomegaly, Retinal degeneratio... OMIM:607014
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:605479
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... OMIM:618278
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Ventricular septal defect, Abnormality of... ORPHA:290
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Mucolipidosis Iii Gamma
Aortic valve stenosis, Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Farber Disease
Macular degeneration, Hepatosplenomegaly, Thrombocytopenia, Corneal opacity, Anemia, Opacificatio... ORPHA:333
Mucopolysaccharidosis Type 3
Cataract, Pigmentary retinopathy, Optic atrophy, Coarse hair, Splenomegaly, Abnormal mitral valve... ORPHA:581
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Punctate keratitis, Refractory sideroblas... OMIM:557000
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creatinine conc... OMIM:608836
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Trichothiodystrophy 6, Nonphotosensitive
Microcornea, Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hemoglobin, Decr... OMIM:616943
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Generalized hirsutism, Corneal opa... ORPHA:93476
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Corneal arcus OMIM:143890
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia ORPHA:234
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Absent eyebrow, Sparse scalp hair, Sparse eyelashes OMIM:619075
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Lathosterolosis
Cataract, Microcornea, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis, Hepat... ORPHA:46059
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenesis, Anterior synechiae ... OMIM:614195
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:607765
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Opacification of the corneal stroma, Splenomegaly ORPHA:583
Neuhauser Syndrome
Hypoplasia of the iris, Megalocornea, Low anterior hairline, Iridodonesis, Hypercholesterolemia, ... OMIM:249310
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... OMIM:612561
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Conjugat... OMIM:208085
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Posterior embryotoxon, Increased circulating very long-chain fatty acid concentrati... OMIM:614887
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Zonular cataract, Con... ORPHA:168577
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Corneal opacity ORPHA:79292
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Ventricular septal defect,... OMIM:214100
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Hemolytic anemia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Sple... ORPHA:79277
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Conjugated hyperbilirubinemia, Right ventricular hypertrophy, Ventricular septal de... OMIM:613404
Lathosterolosis
Cataract, Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia, Ani... OMIM:607330
Cholestasis, Progressive Familial Intrahepatic, 8
Increased serum bile acid concentration, Hypercholesterolemia, Hepatomegaly, Conjugated hyperbili... OMIM:619662
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Hepatomegaly, Opacification of the corneal stroma, Corneal opacity OMIM:253010
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Elevated circu... OMIM:251880
Noonan Syndrome 9
Sparse eyebrow, Prominent corneal nerve fibers, Ventricular septal defect, Curly hair, Pulmonic s... OMIM:616559
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Mucolipidosis Ii Alpha/Beta
Sparse hair, Increased serum beta-hexosaminidase, Sparse eyebrow, Megalocornea, Hypertrophic card... OMIM:252500
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613812
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Opacification of the corneal stroma, Abnormal heart valve morphology OMIM:253000
Fumarase Deficiency
Optic atrophy, Conjunctival icterus, Polycythemia, Hyperbilirubinemia, Perimembranous ventricular... OMIM:606812
X-Linked Intellectual Disability, Nascimento Type
Abnormal hair whorl, Neonatal hyperbilirubinemia, Lumbar hypertrichosis, Tetralogy of Fallot, Mit... ORPHA:163956
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Patent foramen ovale, Aplasia/Hypoplasia of the eyebrow ORPHA:293939
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low posterior hairline, Neonatal hyperbilirubinemia, Low anterior hairline ORPHA:73272
Cystic Echinococcosis
Abnormal heart morphology, Hyperbilirubinemia, Splenic cyst, Eosinophilia, Hepatomegaly ORPHA:400
Lcat Deficiency
Decreased HDL cholesterol concentration, Corneal opacity, Decreased circulating apolipoprotein A-... ORPHA:650
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Wilson Disease
Hypouricemia, Sunflower cataract, Hypoalbuminemia, Kayser-Fleischer ring, Hyperbilirubinemia, Spl... OMIM:277900
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Abnormal heart morphology, Nail dystrophy, Corneal opacity, Congeni... ORPHA:1867
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Conjunctival icterus, Pancytopenia, Leukopenia, Erythro... ORPHA:447
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Oculoectodermal Syndrome
Microcornea, Supernumerary nipple, Hypertrophic cardiomyopathy, Astigmatism, Atrial septal defect... OMIM:600268
H Syndrome
Alopecia, Histiocytosis, Hypertrichosis, Microcytic anemia, Abnormal eyebrow morphology, Hepatosp... ORPHA:168569
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... ORPHA:412
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal st... OMIM:251300
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Cockayne Syndrome B
Sparse hair, Optic atrophy, Microcornea, Pigmentary retinopathy, Dry hair, Hypoplasia of the iris... OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Optic atrophy, Megalocornea, Hypoplasia of the retina, Elevated circulating creatine ki... OMIM:253280
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Caroli Syndrome
Conjunctival icterus, Hypersplenism, Leukopenia, Leukocytosis, Hyperbilirubinemia, Thrombocytopen... ORPHA:480520
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Alopecia, Band keratopathy, Keratoconjunctivitis, Iron deficiency anemia, Asplenia OMIM:269200
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal heart morphology, Hypertrophic cardiomyopathy, Hyperbilirubinemia, Thrombocytopenia, Ret... ORPHA:464321
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Progeria-Short Stature-Pigmented Nevi Syndrome
Cataract, Alopecia, Band keratopathy, Microcytic anemia, Low posterior hairline, T lymphocytopenia ORPHA:2959
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia, Hemophagocytosis ORPHA:39812
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Cockayne Syndrome A
Sparse hair, Cataract, Optic atrophy, Pigmentary retinopathy, Dry hair, Retinal pigment epithelia... OMIM:216400
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Opacification of the corneal stroma ORPHA:79280
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Brittle hair, Curly hair, Sparse eyelashes, Pi... OMIM:602400
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Hepatosplenomegaly, Alopecia of scalp, Splenomegaly, Mitral valve prolapse, Ventri... OMIM:602782
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Bartsocas-Papas Syndrome 1
Axillary pterygium, Alopecia, Popliteal pterygium, Pterygium, Alopecia totalis, Patent foramen ov... OMIM:263650
Mosaic Trisomy 1
Opacification of the corneal stroma, Ventricular septal defect ORPHA:1692
Liver Disease, Severe Congenital
Dry hair, Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, At... OMIM:619991
Degcags Syndrome
Premature graying of hair, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Ventricular sept... OMIM:619488
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Ogden Syndrome
Sparse eyebrow, Secundum atrial septal defect, Polycythemia, Fine hair, Long eyelashes, Hyperbili... OMIM:300855
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Anterior chamber synechiae ORPHA:85410
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Ventricular septal defect, Atrial septal defect, Thrombocytopen... ORPHA:163979
Intermediate Uveitis
Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Macular scar ORPHA:279914
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Hepatomegaly, Cardiomegal... OMIM:620376
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Xeroderma Pigmentosum
Cataract, Optic atrophy, Alopecia, Keratitis, Pterygium, Conjunctival telangiectasia, Opacificati... ORPHA:910
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect, Astigmatism, Persistence of hemoglobin F OMIM:619769
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dilated cardiomyopathy, Dry hair, Coarse hair, Myofiber disarray, Nail dy... OMIM:620519
Caroli Disease
Conjunctival icterus, Leukocytosis, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia ORPHA:53035
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Multicentric Osteolysis, Nodulosis, And Arthropathy
Mitral valve prolapse, Hirsutism, Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Microcytic anemia, Premature graying of hair, Hypertrich... OMIM:256040
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Hereditary Acrokeratotic Poikiloderma
Dystrophic toenail, Nail dystrophy, Keratoconjunctivitis, Dystrophic fingernails, Opacification o... ORPHA:2907
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Hepatomegaly, Conjug... ORPHA:567983
Beta-Thalassemia Major
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231214
Stuve-Wiedemann Syndrome 1
Sparse hair, Opacification of the corneal stroma OMIM:601559
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231226
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ap... OMIM:617052
Cranioectodermal Dysplasia 2
Sparse eyebrow, Polysplenia, Hyperbilirubinemia, Splenomegaly, Patent foramen ovale, Sparse eyela... OMIM:613610
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Nail dys... ORPHA:31150
Cockayne Syndrome
Lentiglobus, Cataract, Pigmentary retinopathy, Band keratopathy, Abnormal cornea morphology, Opti... ORPHA:191
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Sparse eyebrow, Absent nipple, Optic disc coloboma, Nail dystrophy, Patent foramen ovale, Aplasia... OMIM:620186
Alagille Syndrome 1
Cataract, Microcornea, Band keratopathy, Pigmentary retinopathy, Tetralogy of Fallot, Axenfeld an... OMIM:118450
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cataract, Chorioretinal coloboma, Hyperbilirubinemia, Thick eyebrow, Ventricular septal defect, J... OMIM:619475
Reynolds Syndrome
Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Hepatomegaly OMIM:613471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Retinal detachment,... OMIM:614643
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Noonan Syndrome 10
Sparse eyebrow, Hypertrophic cardiomyopathy, Prominent corneal nerve fibers, Mitral valve prolaps... OMIM:616564
Hardikar Syndrome
Pigmentary retinopathy, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Splenomegaly, Pate... OMIM:301068
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Knobloch Syndrome 1
Band keratopathy, Horizontal eyebrow, Peripapillary atrophy, Alopecia of scalp, Iris transillumin... OMIM:267750
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow ORPHA:98791
Atelis Syndrome 2
Thrombocytopenia, Developmental cataract, Anemia, Supravalvar pulmonary stenosis, Remnants of the... OMIM:620185
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hypercholesterolemia, He... ORPHA:186
Neurooculorenal Syndrome
Highly arched eyebrow, Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral ... OMIM:620305
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Fryns Syndrome
Polysplenia, Facial hirsutism, Ventricular septal defect, Atrial septal defect, Opacification of ... OMIM:229850
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Isolated Biliary Atresia
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:30391
Senior-Boichis Syndrome
Anemia, Hepatosplenomegaly, Increased total bilirubin ORPHA:84081
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration ORPHA:90673
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Unbalanced atrioventricular canal defect, Secundum atrial septal defect, Increas... OMIM:619534
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Fructose Intolerance, Hereditary
Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Hepatomegaly, Bicarbonaturia OMIM:229600
Proximal Renal Tubular Acidosis
Cataract, Band keratopathy, Hypokalemia, Coloboma, Subvalvular aortic stenosis, Bicarbonaturia ORPHA:47159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Opacification of the corneal stroma, Optic nerve dysplasia, Elevated circulati... OMIM:615287
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Fine hair, Tetralogy of Fallot, Muscular ventricular septal defect, Hyperbilirubi... OMIM:210710
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Yellow Fever
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukoc... ORPHA:99829
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Persistence of hemoglobin F, Pancytopenia, Hepatomegaly, Acute myeloid leuke... OMIM:260400
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Alopecia, Atrichia, Keratitis, Corneal neovascularization, Nail dystrophy, Recurrent corneal eros... OMIM:308205
Pseudohypoparathyroidism Type 1A
Cataract, Band keratopathy, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Con... ORPHA:79443
Blau Syndrome
Cataract, Band keratopathy, Pericarditis, Iritis OMIM:186580
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Retinal degeneration OMIM:208500
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia OMIM:613658
Lead Poisoning
Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration, Abnormal T cell morphol... ORPHA:330015
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Sparse hair, Ventricular septal defect, Coloboma, Atrial septal defec... OMIM:268300
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration OMIM:218700
Neuroocular Syndrome 1
Cataract, Microcornea, Highly arched eyebrow, Peters anomaly, Long eyelashes, Thick eyebrow, Brit... OMIM:619539
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Microphthalmia, Syndromic 2
Aortic valve stenosis, Microcornea, Thick eyebrow, Mitral valve prolapse, Ventricular septal defe... OMIM:300166
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Ventricular septal defect, Perimembranous ventricular septal defect, Hypochromic ... OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Optic atrophy, Abnormal hemoglobin ORPHA:847
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Johanson-Blizzard Syndrome
Conjunctival icterus, Dilated cardiomyopathy, Fair hair, Situs inversus totalis, Splenomegaly, Hy... OMIM:243800
Norrie Disease
Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Retin... ORPHA:649
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Thick eyebrow, Atrial septal defect OMIM:300896
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Mitral stenos... ORPHA:56
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system ORPHA:637
Holoprosencephaly 2
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Single ventricle, Cyclopia, Iris... OMIM:157170
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Prominent corneal nerve fibers ORPHA:653
Iminoglycinuria
ORPHA:42062

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 Slc6a20b

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 Slc6a20b.

No publications found that use IMPC mice or data for Slc6a20b.

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
Slc6a20btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc6a20btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc6a20bem1(IMPC)J Exon Deletion Mice

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