Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ATP-binding cassette, sub-family B member 10
Synonyms:
ABC-me

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Abcb10 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 Abcb10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia ORPHA:46532
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly, Anemia, Abnormalit... ORPHA:75563
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Pallor, Splenomegaly, Hepatom... OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... OMIM:615631
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob... ORPHA:848
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:98870
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Elevated hepatic iron concentrat... OMIM:206100
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... OMIM:266200
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:300298
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persis... ORPHA:231222
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... OMIM:194380
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... OMIM:300908
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopeni... ORPHA:507
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:79230
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp... ORPHA:824
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... ORPHA:446
Hb Bart'S Hydrops Fetalis
Pallor, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia ORPHA:163596
Elliptocytosis 1
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Pallor OMIM:613561
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Gracile Syndrome
Cholestasis, Increased circulating iron concentration, Increased serum pyruvate, Increased circul... OMIM:603358
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Increased circulating lactate dehydrogenase concentration, Pers... OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan... OMIM:613839
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Cirrhosis, Anemia,... OMIM:606069
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... OMIM:254450
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hemo... OMIM:611590
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... OMIM:300751
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... ORPHA:231226
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration, ... OMIM:300752
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir... OMIM:619868
Evans Syndrome
Pallor, Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibod... ORPHA:1959
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... OMIM:613280
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor ORPHA:209981
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... OMIM:606785
Beta-Thalassemia Major
Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... ORPHA:231214
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Pallor ORPHA:56425
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... OMIM:620121
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:602390
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Micronodular cirrhosis, Hepatic periporta... ORPHA:139507
Portal Hypertension, Noncirrhotic, 2
Elevated gamma-glutamyltransferase level, Nodular regenerative hyperplasia of liver, Elevated cir... OMIM:619463
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... ORPHA:53693
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Letterer-Siwe Disease
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Pallor, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Increa... ORPHA:232
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly, I... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Increased C-peptide level, Decreased ... ORPHA:276556
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa... ORPHA:331206
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ... OMIM:143500
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Thrombocytopenia, Hepatomegaly, Abnormal neut... ORPHA:3226
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Increased circulating ferritin concentration, Microcytic anemia, Sideroblasti... OMIM:600462
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... ORPHA:35858
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Increased C-peptide level ORPHA:276580
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor, Increased C-peptide level, Decreased circulating free fatty acid level ORPHA:324575
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Pallor, Pancre... ORPHA:263455
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Pallor, An... OMIM:301310
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... OMIM:615438
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased circulating carnitine concentration, Reduced HMG-CoA lyase activity in cultured fibrobl... OMIM:246450
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi... OMIM:619662
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... ORPHA:210136
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Chronic hepatic ... ORPHA:465508
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Elevated total serum tryptase, Chronic myelomonocytic leukemia, Leukocytosis, ... ORPHA:98849
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Petechiae, Hepa... ORPHA:294
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor ORPHA:99931
Cholestasis, Intrahepatic, Of Pregnancy, 1
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru... OMIM:147480
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Sepsis In Premature Infants
Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Hepatomegaly, Elevated c... ORPHA:90051
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Increased circulating lactate dehydrogenase c... ORPHA:158057
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... OMIM:300972
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Decreased circulating ferritin concentration, Hypochromic microcy... ORPHA:54028
Optic Atrophy 1
Pallor OMIM:165500
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Pallor, Hyperu... ORPHA:20
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Abnormal ci... ORPHA:348
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom... OMIM:619902
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro... OMIM:222470
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Aceruloplasminemia
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... ORPHA:48818
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Aceruloplasminemia
Anemia, Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferri... OMIM:604290
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibr... OMIM:617093
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... ORPHA:567983
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of... ORPHA:101096
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypo... ORPHA:398063
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Decreased circulating nicotinamide adenine dinucleotide-cytochro... OMIM:250800
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Dry skin, Decreased mean corpuscular volume OMIM:616943
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Trichohepatoenteric Syndrome 2
Hepatomegaly, Decreased circulating iron concentration, Cirrhosis, Chronic hepatitis OMIM:614602
Senior-Loken Syndrome 8
Pancreatic cysts, Intrahepatic bile duct dilatation, Pallor, Hepatic cysts OMIM:616307
Hereditary Folate Malabsorption
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
American Trypanosomiasis
Hepatomegaly, Pallor, Splenomegaly ORPHA:3386
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Syndromic Diarrhea
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Dry skin, Splenomegaly, Hypoplasia of th... ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iiq
Decreased circulating ceruloplasmin concentration, Elevated circulating hepatic transaminase conc... OMIM:617395
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Beta-Ketothiolase Deficiency
Leukocytosis, Pallor, Hyperuricemia, Hyperammonemia, Thrombocytosis, Hepatomegaly ORPHA:134
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In... ORPHA:247598
Low Phospholipid-Associated Cholelithiasis
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Cholelithiasis, Biliary cirrh... ORPHA:69663
Shwachman-Diamond Syndrome 1
Elevated circulating hepatic transaminase concentration, Persistence of hemoglobin F, Exocrine pa... OMIM:260400
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ... ORPHA:54251
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Dry skin, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Hepato... OMIM:201100
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp... OMIM:611881
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:242150
Waldenström Macroglobulinemia
Normocytic anemia, Pallor, Splenomegaly, Hepatomegaly, Leukemia, Abnormality of neutrophils, Purpura ORPHA:33226
Scleroderma, Familial Progressive
Telangiectasia, Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninemia, Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase acti... OMIM:277400
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... ORPHA:435934
Perry Syndrome
Hypotension ORPHA:178509
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Hyperbilirubinemia, Pallor, Decreased fu... OMIM:606812
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat... OMIM:208085
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho... ORPHA:480520
Non-Functioning Paraganglioma
Hypercalcemia, Pallor ORPHA:94080
Myopathic Ehlers-Danlos Syndrome
Pallor, Mildly elevated creatine kinase ORPHA:536516
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Retinitis Pigmentosa 51
Pallor OMIM:613464
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration ORPHA:1551
Wolcott-Rallison Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... ORPHA:1667
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... ORPHA:131
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Analbuminemia
Hypotension OMIM:616000
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration OMIM:121270
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Thr... ORPHA:3260
Dravet Syndrome
Pallor ORPHA:33069
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Hyperferritinemia With Or Without Cataract
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... OMIM:600886
Nipah Virus Disease
Hypotension ORPHA:99825
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Congenital Heart Block
Pallor ORPHA:60041
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag... ORPHA:449285
Adenohypophysitis
Hyponatremia, Pallor, Normochromic anemia ORPHA:95512
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Exocrine pancrea... OMIM:617052
Neuroblastoma
Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent... ORPHA:635
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Increased circulating lactate dehydrogenase concentrati... ORPHA:447
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Panhypophysitis
Hyponatremia, Pallor, Normochromic anemia ORPHA:95513
Fanconi Anemia, Complementation Group I
Pallor, Neutropenia OMIM:609053
Combined Oxidative Phosphorylation Deficiency 14
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... OMIM:614946
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Foxp1 Syndrome
Decreased circulating iron concentration ORPHA:391372
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Skin vesicle,... ORPHA:293173
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Autosomal Recessive Malignant Osteopetrosis
Pallor, Splenomegaly, Hypocalcemia, Hepatomegaly, Hypophosphatemia, Anemia ORPHA:667
Pituitary Apoplexy
Hyponatremia, Pallor, Normochromic anemia ORPHA:95613
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia OMIM:600901
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C... ORPHA:470
Late-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556037
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor ORPHA:329971
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Neuroendocrine Tumor Of The Colon
Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta... ORPHA:100080
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Sheehan Syndrome
Hyponatremia, Dry skin, Pallor, Normochromic anemia ORPHA:91355
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia OMIM:227650
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Infection-Related Hemolytic Uremic Syndrome
Pallor, Leukocytosis, Hypocalcemia, Hyponatremia, Pancreatitis, Thrombocytopenia, Hyperkalemia, H... ORPHA:544482
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic... ORPHA:562639
Retinitis Pigmentosa 75
Pallor OMIM:617023
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Early-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556030
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Lead Poisoning
Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration, Abnormal T cell morphol... ORPHA:330015
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100082
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Pallor ORPHA:276621
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo... OMIM:620300
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension OMIM:264350
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Umbilical hernia, Persistence of hemoglobin F OMIM:619769
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:188
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia OMIM:227645
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Myopathy, Mitochondrial, And Ataxia
Pallor, Elevated circulating creatine kinase concentration OMIM:617675
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Tay-Sachs Disease
Pallor OMIM:272800
Dengue Fever
Hypotension, Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage ORPHA:99828
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... ORPHA:456312
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat... OMIM:276700
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Bronchial Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... ORPHA:97287
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Fanconi Anemia, Complementation Group D2
Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocyt... OMIM:227646
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension ORPHA:35708
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Infant Botulism
Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Childhood Absence Epilepsy
Pallor ORPHA:64280
Reynolds Syndrome
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope... OMIM:613471
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Degcags Syndrome
Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Pallor, Hyperbilirubinemia, Hepatomega... OMIM:619488
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Pallor ORPHA:29072
Incontinentia Pigmenti
Erythema, Eosinophilia, Leukocytosis, Pallor OMIM:308300
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Von Hippel-Lindau Disease
Polycythemia, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts, Neoplasm of the pancreas ORPHA:892
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Aa Amyloidosis
Hypotension ORPHA:85445
Relapsing Fever
Tachycardia, Hypotension, Epistaxis ORPHA:91547
Neuroendocrine Tumor Of Stomach
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... ORPHA:100075
Meningococcal Meningitis
Shock, Hypotension ORPHA:33475
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:427
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Hypercalcemia, Pallor ORPHA:653
Histiocytoid Cardiomyopathy
Hepatomegaly, Pallor ORPHA:137675
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension ORPHA:98850
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Sarcoidosis
Hepatic failure, Decreased liver function, Leukopenia, Hypercalcemia, Portal hypertension, Increa... ORPHA:797
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension ORPHA:43116
Legionnaires Disease
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:549
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia ORPHA:31824
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Myocarditis, Myocardial infarction, Pericarditis ORPHA:3452
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Prolactinoma
Pallor ORPHA:2965
Acute Radiation Syndrome
Telangiectasia, Hypotension ORPHA:454831
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... ORPHA:90068
Slc39A8-Cdg
Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration ORPHA:468699
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Congenital Enterovirus Infection
Myocarditis, Hypotension, Cardiomyopathy ORPHA:292
Mosaic Trisomy 9
Asplenia, Spina bifida, Abnormal liver lobulation ORPHA:99776
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... ORPHA:31826
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Alkaptonuria
Methemoglobinemia, Hemolytic anemia, Black pigment gallstones ORPHA:56
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension OMIM:174000
Poliomyelitis
Hypovolemic shock, Hypotension, Hypertension ORPHA:2912
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper, Thrombocytopenia ORPHA:457351
Tsh-Secreting Pituitary Adenoma
Hypokalemia, Pallor ORPHA:91347
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Cholera
Tachycardia, Hypotension, Hypovolemic shock ORPHA:173
Bacterial Toxic-Shock Syndrome
Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak ORPHA:36234
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he... ORPHA:340
Esophageal Atresia
Pallor ORPHA:1199
Goodpasture Syndrome
Anemia, Pallor, Increased blood urea nitrogen OMIM:233450
Lujo Hemorrhagic Fever
Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage ORPHA:319213
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Congestive heart failure ORPHA:428
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hepatic sinusoidal dilatation, Pancreatitis, Splenic cyst OMIM:620371
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration OMIM:620306
Gitelman Syndrome
Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia OMIM:263800
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Hellp Syndrome
Hypotension, Internal hemorrhage, Cerebral hemorrhage ORPHA:244242
Late-Onset Isolated Acth Deficiency
Hypotension, Orthostatic hypotension ORPHA:199299
Alexander Disease
Hypertension, Hypotension, Sudden cardiac death ORPHA:58
Acute Adrenal Insufficiency
Myocardial infarction, Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:95409
Neuroendocrine Neoplasm Of Appendix
Hypotension, Tricuspid stenosis, Palpitations, Heart murmur ORPHA:100079
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Elevated circulating creatine kinase concentration OMIM:253280
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ... ORPHA:466650
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension ORPHA:293978
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... ORPHA:99826
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Decreased circulating iron concentration ORPHA:438213
Lysosomal Acid Lipase Deficiency
Hypotension, Pulmonary arterial hypertension, Hypovolemia ORPHA:275761
Leptospirosis
Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Retinal hemor... ORPHA:509
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Hypovolemia ORPHA:168558
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormal circulating selenium concentration, Iron deficiency anemia, Decreased serum zinc, Anemia... ORPHA:79408
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Hypovolemia ORPHA:289548
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Re... OMIM:304150
Addison Disease
Hypotension, Orthostatic hypotension ORPHA:85138
Acute Liver Failure
Shock, Hypotension, Gastrointestinal hemorrhage, Intracranial hemorrhage ORPHA:90062
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor ORPHA:99125
Wrinkly Skin Syndrome
Umbilical hernia, Excessive wrinkled skin, Cutis laxa, Excessive skin wrinkling on dorsum of hand... ORPHA:2834
Pmm2-Cdg
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Reduc... ORPHA:79318
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypotension, Hypovolemia ORPHA:90794
Acute Transverse Myelitis
Decreased circulating copper concentration ORPHA:139417
Plague
Hypotension, Tachycardia, Arrhythmia, Hematemesis ORPHA:707
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494

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 Abcb10

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 Abcb10.

No publications found that use IMPC mice or data for Abcb10.

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
Abcb10tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Abcb10tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Abcb10tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Abcb10tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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