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 (MDR/TAP), 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 alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly, Elevated hepatic transaminase, Pallor ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... OMIM:615234
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithi... ORPHA:848
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Sp... OMIM:613313
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Increased total iron bin... OMIM:616278
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cirrhosis, Increased ... OMIM:604250
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Degenerative liver disease, Pallor OMIM:268040
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepa... ORPHA:231222
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased glucose-6-p... OMIM:300908
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Leishmaniasis
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormal macrophag... ORPHA:507
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Elliptocytosis, Pallor, Jaundice OMIM:611804
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Jaundice OMIM:613839
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor ORPHA:163596
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Pallor, ... ORPHA:824
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating ferritin concentration, Congenital hepatic fib... ORPHA:446
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Cholestasis, Increased serum ... OMIM:603358
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Elevated transferrin saturation, Cirrhosis, Hepatic steatosis, Increased ci... OMIM:606069
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration, Cholelithiasis, Eleva... OMIM:300752
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Pallor, Extramedullary he... ORPHA:822
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Increased c... OMIM:600462
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Decreased liver f... OMIM:613280
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular vo... OMIM:611590
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular ... ORPHA:231226
Beta-Thalassemia Major
Hepatomegaly, Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcytic anemia... ORPHA:231214
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, Nodular regenerative hyperplasi... ORPHA:64743
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor ORPHA:209981
Retinitis Pigmentosa 81
Pallor OMIM:617871
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Aut... ORPHA:1959
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... OMIM:603471
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Cutis laxa, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, De... OMIM:301045
Retinitis Pigmentosa 60
Pallor OMIM:613983
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Cold Agglutinin Disease
Pallor, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pa... OMIM:616959
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hemochromatosis, Type 2A
Increased serum iron, Hepatomegaly, Splenomegaly, Cirrhosis, Increased circulating ferritin conce... OMIM:602390
Optic Atrophy 9
Pallor OMIM:616289
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Gracile Syndrome
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatos... ORPHA:53693
Portal Hypertension, Noncirrhotic, 2
Ecchymosis, Hepatomegaly, Hepatocellular carcinoma, Petechiae, Nodular regenerative hyperplasia o... OMIM:619463
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Reduced lysosomal acid l... OMIM:278000
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor, Jaundice OMIM:246400
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia, Decreased... ORPHA:276575
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Anemia, Hyperammonemia, Hyperuricemia, Pallor, Decreased plasma carnitine OMIM:246450
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Decreased circulating free fatty acid level, ... ORPHA:276556
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Hypoalbuminemia, Eleva... OMIM:617156
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenome... ORPHA:331206
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocyt... ORPHA:3226
Autoimmune Hemolytic Anemia
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Pallor, Jaundice ORPHA:90033
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Abnormal circulating fatty-acid concentration, ... ORPHA:263455
Retinitis Pigmentosa 70
Pallor OMIM:615922
Optic Atrophy 1
Pallor OMIM:165500
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Elev... ORPHA:465508
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Infantile Liver Failure Syndrome 1
Macrocytic anemia, Hepatomegaly, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... OMIM:615438
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Increased C-peptide level ORPHA:276580
Congenital Tricuspid Stenosis
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... ORPHA:95459
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Increased C-peptide level, Pallor, Decreased circulating free fatty acid level ORPHA:324575
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Hemochromatosis, Type 1
Increased serum iron, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Increased ... OMIM:235200
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Elevated circulating alkaline p... OMIM:613812
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Decreased circulating ferritin concentration, Polycythemia, Micronodular cirrhosis,... ORPHA:309854
Myelofibrosis
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly OMIM:254450
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Elevated total serum t... ORPHA:98849
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... OMIM:618528
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... ORPHA:158057
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Retinitis Pigmentosa 27
Pallor OMIM:613750
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia, Cholestasis, Hepatic failure, Pallor OMIM:606812
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... OMIM:147480
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Candidiasis, Familial, 2
Hypereosinophilia, Decreased serum iron OMIM:212050
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating alkaline phosphatase concent... OMIM:235555
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Elevated hepatic transaminase, Cut... OMIM:300972
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Increased circulating ferritin concentration, Hepatosp... ORPHA:210136
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Elevated circulating C-reactive protein concentration, P... ORPHA:90051
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Senior-Loken Syndrome 8
Hepatic cysts, Pallor, Pancreatic cysts OMIM:616307
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Pallor ORPHA:99931
Retinitis Pigmentosa 73
Pallor OMIM:616544
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Increased total bilirubin, Autoimmune hemolytic anemia ORPHA:90036
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, Abn... ORPHA:348
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Hepatitis, Decreased serum iron OMIM:614602
Refractory Anemia With Excess Blasts
Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, Abnormal circulating albumin conce... ORPHA:86839
Plummer-Vinson Syndrome
Iron deficiency anemia, Decreased circulating ferritin concentration, Pallor, Hypochromic microcy... ORPHA:54028
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Abnormality o... OMIM:222470
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... OMIM:214950
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Increased circulati... ORPHA:3203
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase OMIM:613490
Aceruloplasminemia
Aceruloplasminemia, Hypochromic microcytic anemia, Elevated hepatic iron concentration, Refractor... ORPHA:48818
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Anemia, Decreased serum iron OMIM:604290
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulation in hepatocytes, Anemia... ORPHA:20
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hypotension ORPHA:369873
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver ORPHA:79168
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia, Abnormal circulating copper concentration OMIM:121270
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Micronodular cirr... OMIM:251880
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Elevated alkaline ... ORPHA:398063
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Conjugated hyperbilirubinemia... OMIM:619484
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... OMIM:600803
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Cholelithiasis, Pancreatitis, Cholestatic liver disease... ORPHA:65682
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... ORPHA:905
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Abnormality of the pancreas, Neutrophilia, Elevated hepatic transaminase, Elevated circul... ORPHA:54251
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Abnormality of iron homeostasis, He... ORPHA:84064
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Persistence of hemoglobin F, Ac... OMIM:260400
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Decreased serum zinc, Hepatic steatosis, Hepatosplenomegaly, Dermal translucenc... ORPHA:541423
American Trypanosomiasis
Hepatomegaly, Pallor, Splenomegaly ORPHA:3386
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al... ORPHA:247598
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:90045
Tako-Tsubo Cardiomyopathy
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... ORPHA:66529
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Decreased circulating cerul... ORPHA:171851
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... OMIM:618641
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Hepatomegaly, Neutropenia, Petechiae, Anemia, Splenomegaly, Decreased liver function,... ORPHA:540
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Beta-Ketothiolase Deficiency
Leukocytosis, Hepatomegaly, Thrombocytosis, Hyperammonemia, Hyperuricemia, Pallor ORPHA:134
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hypersplenism, Conjug... ORPHA:480520
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly,... ORPHA:398124
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Cog2-Cdg
Decreased liver function, Decreased circulating copper concentration, Decreased circulating cerul... ORPHA:435934
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Macrovesicular ... OMIM:600649
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Leukemia, Splenomegaly, Purpura, Pallor, Abnormality of neutrophils ORPHA:33226
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... ORPHA:91547
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Perry Syndrome
Hypotension ORPHA:178509
Myopathic Ehlers-Danlos Syndrome
Pallor, Mildly elevated creatine kinase ORPHA:536516
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular carcinoma, Elevated circulating c... ORPHA:370
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Adult-Onset Still Disease
Leukocytosis, Hepatomegaly, Abnormal circulating lipid concentration, Hepatitis, Erythema, Spleno... ORPHA:829
Non-Functioning Paraganglioma
Hypercalcemia, Pallor ORPHA:94080
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Anemia ORPHA:1551
Wolcott-Rallison Syndrome
Hepatomegaly, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonem... ORPHA:1667
Wilson Disease
Hepatomegaly, High nonceruloplasmin-bound serum copper, Hepatocellular carcinoma, Cirrhosis, Hepa... OMIM:277900
Budd-Chiari Syndrome
Hepatomegaly, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis, Elevate... ORPHA:131
Analbuminemia
Hypotension OMIM:616000
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Elevated circulating creatine kinase concentrati... ORPHA:264580
Chylomicron Retention Disease
Acanthocytosis, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, ... ORPHA:71
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Leukopenia, Elevated hepatic transaminase, Anemia, I... OMIM:603553
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Cholangitis, Portal fibrosis, Chronic hepatitis, Anemia, Pancreatit... ORPHA:3260
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Nipah Virus Disease
Hypotension ORPHA:99825
Retinitis Pigmentosa 51
Pallor OMIM:613464
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... ORPHA:447
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Snakebite Envenomation
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... ORPHA:449285
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Fanconi Anemia, Complementation Group I
Pallor, Neutropenia OMIM:609053
Adenohypophysitis
Hyponatremia, Normochromic anemia, Pallor ORPHA:95512
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Congenital hepatic fibrosis, Anemia, ... ORPHA:84081
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hyperproteinemia, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly,... ORPHA:158048
Dravet Syndrome
Pallor ORPHA:33069
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Hypophosphatemia, Splenomegaly, Hypocalcemia, Pallor ORPHA:667
Pituitary Apoplexy
Hyponatremia, Normochromic anemia, Pallor ORPHA:95613
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Hepatocellular Carcinoma
Thrombocytosis, Hepatomegaly, Hyponatremia, Hypercalcemia, Hemobilia, Hypokalemia, Polycythemia, ... ORPHA:88673
Panhypophysitis
Hyponatremia, Normochromic anemia, Pallor ORPHA:95513
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron ORPHA:391372
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Hypotension OMIM:263400
Lysinuric Protein Intolerance
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... ORPHA:470
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556037
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Hyperb... ORPHA:562639
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor ORPHA:329971
Fanconi Anemia, Complementation Group E
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... OMIM:212138
Sheehan Syndrome
Dry skin, Hyponatremia, Normochromic anemia, Pallor ORPHA:91355
Fanconi Anemia, Complementation Group A
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Hyponatremia, Hyperkalemia, Pancreatitis, Hypocalcemia, Thrombocy... ORPHA:544482
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Retinitis Pigmentosa 75
Pallor OMIM:617023
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension ORPHA:79455
Neuroendocrine Tumor Of The Colon
Right ventricular failure, Facial telangiectasia, Palpitations, Tricuspid regurgitation, Melena, ... ORPHA:100080
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556030
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Microvesicular hepatic steatosis, Hyponatremia, Hepatic fibrosis, Vacuolated lympho... ORPHA:275761
Acquired Von Willebrand Syndrome
Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Epistaxis, Joint hemorrhage,... ORPHA:99147
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Pallor ORPHA:276621
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... ORPHA:330015
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Dengue Fever
Cerebral hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Hypotension ORPHA:99828
Fanconi Anemia, Complementation Group C
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227645
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Neuroendocrine Tumor Of The Rectum
Right ventricular failure, Facial telangiectasia, Palpitations, Tricuspid regurgitation, Melena, ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Right ventricular failure, Facial telangiectasia, Palpitations, Tricuspid regurgitation, Melena, ... ORPHA:100082
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal echocardiogram, Congestive heart failure, Abnormal EKG, Dec... OMIM:229300
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Common Variable Immunodeficiency
Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia, Purpura, Elevat... ORPHA:1572
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension OMIM:264350
Myopathy, Mitochondrial, And Ataxia
Elevated circulating creatine kinase concentration, Pallor OMIM:617675
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... OMIM:105650
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillary leak ORPHA:542323
Reynolds Syndrome
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly, Elevated circulating alkaline phospha... OMIM:613471
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Abnormal liver parench... ORPHA:456312
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Elevated alkalin... ORPHA:171
Tay-Sachs Disease
Pallor OMIM:272800
Fanconi Anemia, Complementation Group D2
Neutropenia, Anemic pallor, Annular pancreas, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, ... OMIM:227646
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulating selenium concentration, ... ORPHA:89842
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Cholesterol gallstones... ORPHA:521219
Systemic Capillary Leak Syndrome
Myocarditis, Arrhythmia, Pericarditis, Hypotension ORPHA:188
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Tyrosinemia, Type I
Hepatomegaly, Hepatocellular carcinoma, Hypertyrosinemia, Splenomegaly, Cirrhosis, Pancreatic isl... OMIM:276700
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Bronchial Neuroendocrine Tumor
Right ventricular failure, Facial telangiectasia, Palpitations, Tricuspid regurgitation, Cardioge... ORPHA:97287
Degcags Syndrome
Hepatomegaly, Leukopenia, Iron deficiency anemia, Congenital hypoplastic anemia, Anemia, Hyperbil... OMIM:619488
Incontinentia Pigmenti
Leukocytosis, Eosinophilia, Pallor, Erythema OMIM:308300
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Pallor ORPHA:29072
Von Hippel-Lindau Disease
Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pallor ORPHA:892
Childhood Absence Epilepsy
Pallor ORPHA:64280
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension ORPHA:427
Aa Amyloidosis
Hypotension ORPHA:85445
X-Linked Lymphoproliferative Disease
Splenomegaly, Absent natural killer cells, Increased circulating ferritin concentration, Hepatosp... ORPHA:2442
Rare Circulatory System Disease
Pallor ORPHA:98028
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Pallor, Neoplasm of the liver ORPHA:653
Meningococcal Meningitis
Shock, Hypotension ORPHA:33475
Neuroendocrine Tumor Of Stomach
Right ventricular failure, Facial telangiectasia, Palpitations, Tricuspid regurgitation, Melena, ... ORPHA:100075
Ileal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Palpitations, Arterial occlusion, Pulmonic stenosi... ORPHA:100078
Jejunal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Palpitations, Arterial occlusion, Pulmonic stenosi... ORPHA:100077
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Arrhythmia, Hypotension ORPHA:159
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension ORPHA:391673
Colchicine Poisoning
Myocarditis, Cardiogenic shock, Congestive heart failure, Hypovolemia, Arrhythmia, Hypotension ORPHA:31824
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Sarcoidosis
Portal hypertension, Hepatomegaly, Hypercalcemia, Leukopenia, Increased T cell count, Anemia, Abn... ORPHA:797
Congenital Hypothyroidism
Hypertension, Arrhythmia, Hypotension ORPHA:442
Legionnaires Disease
Myocarditis, Arrhythmia, Pericarditis, Hypotension ORPHA:549
Prolactinoma
Pallor ORPHA:2965
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Hypotension ORPHA:98850
Whipple Disease
Myocarditis, Pericarditis, Myocardial infarction, Gastrointestinal hemorrhage, Hypotension ORPHA:3452
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... ORPHA:90068
Mastocytosis
Gastrointestinal hemorrhage, Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:98292
Mosaic Trisomy 9
Abnormal liver lobulation, Spina bifida, Asplenia ORPHA:99776
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Histiocytoid Cardiomyopathy
Hepatomegaly, Pallor ORPHA:137675
Slc39A8-Cdg
Abnormality of the liver, Abnormal blood zinc concentration, Hypomanganesemia ORPHA:468699
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hypotension ORPHA:292
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Congestive heart fa... ORPHA:31826
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Duodenal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Palpitations, Melena, Pulmonic stenosis, Cardiogen... ORPHA:100076
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Friedreich Ataxia And Congenital Glaucoma
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Con... OMIM:229310
Tsh-Secreting Pituitary Adenoma
Pallor, Hypokalemia ORPHA:91347
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia, High nonceruloplasmin-bound serum copper ORPHA:457351
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Congestive heart failure, Abnorm... OMIM:601992
Hennekam-Beemer Syndrome
Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Arrhythmia, Hypo... ORPHA:94093
Bacterial Toxic-Shock Syndrome
Myocarditis, Shock, Tachycardia, Hypotension, Capillary leak ORPHA:36234
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Hemorrhagic Fever-Renal Syndrome
Shock, Hypertension, Intracranial hemorrhage, Palpitations, Subconjunctival hemorrhage, Epistaxis... ORPHA:340
Gitelman Syndrome
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia OMIM:263800
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hypertension, Retinal hemorrhage, Subdural hemorrhage, Subconjunctival hemorrhage, H... ORPHA:99827
Goodpasture Syndrome
Pallor, Anemia, Increased blood urea nitrogen OMIM:233450
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Lujo Hemorrhagic Fever
Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Esophageal Atresia
Pallor ORPHA:1199
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cirrhosis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated hepati... OMIM:300868
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormality of Krebs cycle metabolism, Cardi... ORPHA:255210
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Acute Adrenal Insufficiency
Orthostatic hypotension, Myocardial infarction, Hypotension, Hypovolemia ORPHA:95409
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension ORPHA:199299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Elevated circulating creatine kinase concentration, Pallor OMIM:253280
Hellp Syndrome
Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension ORPHA:293978
Alexander Disease
Sudden cardiac death, Hypertension, Hypotension ORPHA:58
Neuroendocrine Neoplasm Of Appendix
Palpitations, Tricuspid stenosis, Heart murmur, Hypotension ORPHA:100079
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Prolonged QT interval, ST segment depression, Abnormal pulse pressure, Hypotensi... ORPHA:466650
Marburg Hemorrhagic Fever
Shock, Pericarditis, Subconjunctival hemorrhage, Tachycardia, Bradycardia, Hypovolemia, Internal ... ORPHA:99826
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Decreased serum iron ORPHA:438213
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:168558
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Iron deficiency anemia, Decreased serum zinc, Anemia, Abnormal circulating selenium concentration... ORPHA:79408
Leptospirosis
Pericarditis, Retinal hemorrhage, Subconjunctival hemorrhage, Pulmonary hemorrhage, First degree ... ORPHA:509
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:289548
Addison Disease
Orthostatic hypotension, Hypotension ORPHA:85138
Wrinkly Skin Syndrome
Cutis laxa, Excessive wrinkled skin, High nonceruloplasmin-bound serum copper, Umbilical hernia, ... ORPHA:2834
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypotension ORPHA:90062
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor ORPHA:99125
Pmm2-Cdg
Hepatic fibrosis, Elevated hepatic transaminase, Abnormal liver parenchyma morphology, Reduced th... ORPHA:79318
Acute Transverse Myelitis
Decreased circulating copper concentration ORPHA:139417
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypovolemia, Shock, Hypotension ORPHA:90794
Plague
Arrhythmia, Hematemesis, Tachycardia, Hypotension ORPHA:707
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
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.

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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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