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Gene: Cyp1a1 MGI:88588

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cytochrome P450, family 1, subfamily a, polypeptide 1
Synonyms:
P450-1,  cytochrome P450 subfamily I, polypeptide 1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Cyp1a1 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 Cyp1a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Neutrophilia, Hereditary
Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia OMIM:162830
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia OMIM:617585
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... OMIM:615285
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... ORPHA:848
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinop... OMIM:226990
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:619313
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph... ORPHA:54251
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Galactosemia Iii
Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly OMIM:230350
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hb Bart'S Hydrops Fetalis
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Extramedullary hematopoiesis, Persistence of hem... ORPHA:231222
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... OMIM:266200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate... OMIM:615234
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Increased circulating lactate dehydrogenase c... ORPHA:158057
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hep... ORPHA:158061
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:100024
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo... OMIM:618892
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,... ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E... OMIM:224120
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancy... OMIM:308240
Wolman Disease
Acute hepatic failure, Hepatomegaly, Splenomegaly OMIM:620151
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration, ... OMIM:300752
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Cryptorchidism, Macrocytic anemia, Elev... OMIM:620501
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Ascites, C... ORPHA:858
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Increa... ORPHA:232
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... OMIM:620481
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy ORPHA:79292
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula... OMIM:194380
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... OMIM:612526
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:602390
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating hepatic transaminase concentration, Increased circulating lact... OMIM:619644
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... OMIM:603554
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Ne... ORPHA:79312
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Immunodeficiency 7
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy,... OMIM:615387
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Increased circulating lactate dehydrogenase concentration, Hypersegmentation of neutrophil nuclei... OMIM:617780
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... ORPHA:33402
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... ORPHA:210136
Heme Oxygenase 1 Deficiency
Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent... OMIM:614034
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Beta-Thalassemia Major
Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... ORPHA:231214
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... ORPHA:231226
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate... OMIM:601847
Galactosemia I
Increased level of galactitol in red blood cells, Failure to thrive, Decreased liver function, El... OMIM:230400
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly,... OMIM:606069
Relapsing Fever
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:91547
Galactose Mutarotase Deficiency
Cholestasis, Hepatomegaly, Hypergalactosemia, Decreased liver function ORPHA:570422
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Hepa... ORPHA:890
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... OMIM:243300
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... OMIM:617243
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypo... ORPHA:398063
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, ... OMIM:617872
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:614727
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Immunodeficiency 46
Anemia, Failure to thrive, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... ORPHA:169154
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Stormorken Syndrome
Howell-Jolly bodies, Increased circulating lactate dehydrogenase concentration, Elevated circulat... OMIM:185070
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Aggressive Systemic Mastocytosis
Elevated total serum tryptase, Decreased liver function, Ascites, Hepatosplenomegaly, Pancytopeni... ORPHA:98850
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Fa... ORPHA:331206
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Hyperammonemia ORPHA:28
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ... OMIM:602450
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin ORPHA:2924
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:300298
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia OMIM:605479
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine... OMIM:618805
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failu... OMIM:603553
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... ORPHA:457077
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hyperammonemia, Elevated circulating cre... OMIM:600649
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo... OMIM:619013
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:618858
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Decreased circulating carnitine concentration, Increased serum pyruvate, Elevated c... OMIM:500009
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Failure to thrive, Lymphopenia, B lymphocytopenia, Absent ... ORPHA:277
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Shwachman-Diamond Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Persistence of hemogl... OMIM:260400
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Immunodeficiency 44
Lymphopenia, Elevated circulating alanine aminotransferase concentration OMIM:616636
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat... OMIM:232400
Immunodeficiency 95
Lymphopenia OMIM:619773
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno... OMIM:610333
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp... OMIM:611881
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp... OMIM:601775
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Abnormality of the liver, Decreased circulating carnitine concentration, Mildly ele... ORPHA:254864
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Wolcott-Rallison Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... ORPHA:1667
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:98870
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Lymphopenia, Leukopenia, Splenomegaly OMIM:620210
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... ORPHA:567983
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... ORPHA:158048
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... OMIM:617591
Diffuse Neonatal Hemangiomatosis
Ascites, Anemia, Thrombocytopenia, Hepatomegaly, Hypercalcemia ORPHA:2123
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In... ORPHA:247598
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... OMIM:613280
Babesiosis
Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic an... ORPHA:108
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation wit... OMIM:300400
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... ORPHA:381
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Conjugated hyperbiliru... OMIM:269920
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom... OMIM:619902
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymphopenia, Hypomagn... ORPHA:90362
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Hyperammonemia, Macrocytic anemia, Anemia, Pancreatitis, Thrombocytopenia, Hepatomegaly ORPHA:27
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... ORPHA:398124
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Failure to thrive, Increase... OMIM:263400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Decreased circulating nicotinamide adenine dinucleotide-cytochro... OMIM:250800
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia OMIM:620443
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:606176
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg... OMIM:618935
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age OMIM:616943
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Maturity-Onset Diabetes Of The Young, Type 13
Elevated hemoglobin A1c, Reduced C-peptide level, Abnormality of body mass index OMIM:616329
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Anemia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly ORPHA:289916
Cystic Echinococcosis
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Elevated... ORPHA:400
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... OMIM:609981
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:610377
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy ORPHA:85414
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... OMIM:301110
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly... ORPHA:824
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen... OMIM:242700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Elevated total serum tryptase, Chronic myelomonocytic leukemia, Leukocytosis, ... ORPHA:98849
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Caroli Disease
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Cholelithiasis, Hepatic fibro... ORPHA:53035
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Propionic Acidemia
Hepatomegaly, Hyperammonemia ORPHA:35
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... OMIM:300835
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:603909
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili... ORPHA:234
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Gaucher Disease Type 1
Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Hepatic failure, Increased ... ORPHA:77259
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ... ORPHA:276
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Failure to thrive, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia,... OMIM:613179
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:2584
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... ORPHA:369840
Mirage Syndrome
Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Decreased body weight, Hypona... OMIM:617053
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C... ORPHA:60
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin, Failure to thrive, Cryptorchidism ORPHA:98791
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... OMIM:300972
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h... ORPHA:131
Gracile Bone Dysplasia
Ascites, Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... OMIM:615947
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho... ORPHA:480520
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Failure... OMIM:615895
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Abnormal B cell count, Hepatomegaly, Autoimmune thrombocytopenia, Enlarged... OMIM:613496
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Transcobalamin Ii Deficiency
Failure to thrive, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticuloc... OMIM:275350
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failur... ORPHA:367
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Failure to thrive, Aplasia/Hypoplasia of... ORPHA:100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-posit... OMIM:304790
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Mcleod Syndrome
Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Splenomegaly, Redu... OMIM:300842
Interstitial Lung And Liver Disease
Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Intraalveolar phosph... OMIM:615486
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatitis, Failure to thrive secondary to recurrent infections, Lymphopenia, Hepatosplenomegaly, ... ORPHA:169160
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e... ORPHA:79240
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Elevated circulating propionylcar... OMIM:251110
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Failure to thrive in infancy, Splenomegaly, Abscess, Elevated circulating C-reactive protein conc... OMIM:612852
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia OMIM:619433
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Elevated circulating hepatic transaminase concentration, Neutr... OMIM:618752
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries ORPHA:79084
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia OMIM:615238
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphad... OMIM:617099
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Elevated ... ORPHA:67
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia ORPHA:1302
Avian Influenza
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circulating l... ORPHA:454836
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Increased mean corpuscular volum... OMIM:617052
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,... OMIM:618549
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:610582
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Intraalveolar phospholipid accumulation, Hepatitis, Leukocytosis, Autoimmune hemoly... OMIM:620565
Dengue Fever
Ascites, Leukopenia, Thrombocytopenia, Hepatomegaly, Hypoproteinemia ORPHA:99828
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Small for gestational age OMIM:619278
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, To... ORPHA:2686
Desmoplastic Small Round Cell Tumor
Ascites, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Testicular neoplasm, Hepatomega... ORPHA:83469
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, L... ORPHA:247353
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F OMIM:619769
Cinca Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein conc... ORPHA:1451
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransferase concentration, M... OMIM:257200
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i... OMIM:619510
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Cholangitis, Leukocytosis, Neutrophilia OMIM:614204
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:99901
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hepatomegaly,... ORPHA:699
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Elevated circulating C-reacti... OMIM:615934
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c OMIM:609812
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Hepatic failure, Cholestasis, Lymphopenia, Decreased CD... OMIM:619573
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Exoc... OMIM:557000
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:85212
Klatskin Tumor
Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Elevated circulating luteinizing hormone level OMIM:250790
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hypert... OMIM:618620
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adeno... OMIM:102700
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Anemia, Iron deficiency anemia, Thrombocyt... OMIM:226300
Macrocephaly/Autism Syndrome
Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomegaly, Hydrocele testis OMIM:605309
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Portal hypertension, Hepatomegaly ORPHA:79319
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased pro... ORPHA:760
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... OMIM:606003
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... OMIM:201475
Immunodeficiency 92
Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of class-switched memor... OMIM:619652
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Ery... OMIM:612541
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... ORPHA:811
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Common Variable Immunodeficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Lymphopeni... ORPHA:1572
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Lymphopenia... OMIM:615688
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hypersplenism, Elevated circulating alkaline phosphatase concentration, Fatal... ORPHA:275761
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia ORPHA:1930
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat... OMIM:276700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatom... OMIM:251000
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy... ORPHA:39041
Lead Poisoning
Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration, Abnormal T cell morphol... ORPHA:330015
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Galactokinase Deficiency
Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactitol in plasma, Hepatomegaly, ... ORPHA:79237
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive pro... OMIM:617388
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Cirrhosis, Lymphangiectasis, Hepatomegaly OMIM:602579
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Failure t... ORPHA:443811
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Bone marrow hypo... OMIM:619767
Ciliary Dyskinesia, Primary, 53
Cardiomegaly, Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia ORPHA:99867
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Reynolds Syndrome
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope... OMIM:613471
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:3162
Immunodeficiency 40
Eosinophilic granuloma, Elevated circulating aspartate aminotransferase concentration, Elevated c... OMIM:616433
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Eosinophilia,... ORPHA:293173
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... ORPHA:79456
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:50918
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries ORPHA:79085
Gaucher Disease, Type I
Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:230800
Immunodeficiency 9
Lymphopenia, Hypoplasia of the thymus, Failure to thrive, Abnormal natural killer cell count OMIM:612782
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Failure to thrive, Lymphop... ORPHA:1830
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... OMIM:127550
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Hyponatremia, Pancreatitis, Ly... ORPHA:549
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... OMIM:610717
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Elevated circulating creatine kinase concentration, Polycystic ovaries, Hypert... ORPHA:435660
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C... ORPHA:470
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left ventri... ORPHA:57777
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Elevated circulating C-reactive protein concen... OMIM:249100
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Cardiomegaly, Ch... ORPHA:465508
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in pre... OMIM:600802
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Absence of lymph node germinal center, Splenomegaly, Sclerosing cholangitis, Enlarged ... OMIM:308230
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia OMIM:614868
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hepatic cysts, Hypokalemia, Hepatomegaly, Jaundice... OMIM:613095
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the th... OMIM:243150
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Immunodeficiency 10
Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega... OMIM:612783
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula... ORPHA:98907
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Reduced hepatic glucose-6-phosphate tran... OMIM:232220
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Abdominal adhesions, Neutropenia OMIM:616395
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hypertriglyceridemia, Hepatomegaly ORPHA:435651
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Neutrophilia ORPHA:36238
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia OMIM:619423
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight... ORPHA:171
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra... OMIM:214500
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrulline, Elevat... OMIM:261680
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... OMIM:257220
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Anemia, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia, Primary hyperpar... OMIM:239200
Argininemia
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hepatomeg... OMIM:207800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Hyperkalemia... OMIM:608885
Pneumocystosis
Abnormal neutrophil count, Weight loss, Increased circulating lactate dehydrogenase concentration ORPHA:723
Syndromic Diarrhea
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ... ORPHA:84064
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hyperglycinemia, Hyperammonemia, Anemia, Thrombocytopenia, Neutropenia, Hepatomegal... OMIM:251100
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... OMIM:233710
Pediatric Systemic Lupus Erythematosus
Increased circulating lactate dehydrogenase concentration, Microangiopathic hemolytic anemia, Asc... ORPHA:93552
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Cryptorchidism, Hypertriglyceridemia OMIM:617575
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, Impai... ORPHA:35078
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Neutropenia, Thr... OMIM:242900
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Immunodeficiency 23
Failure to thrive, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia OMIM:615816
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Acute pancreatitis ORPHA:319218
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent... OMIM:222700
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Abnormal lymph node morphology, Decreased HDL cholesterol concentration... ORPHA:85450
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Weight loss, Impaired lymphocyte transfor... OMIM:614162
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... OMIM:233690
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevated circulating C-reactive... ORPHA:3243
Glycogen Storage Disease Ii
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased circula... OMIM:232300
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Microvesicular hepati... OMIM:618278
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent... OMIM:620376
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concentration, Pancreatitis, H... ORPHA:565612
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Cerv... ORPHA:3260
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia, Abnormal B cell count, Decreased proportion of CD4-positive helpe... OMIM:208900
Cartilage-Hair Hypoplasia
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... OMIM:250250
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Cryptorchidism ORPHA:847
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:319213
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa... OMIM:620005
Vipoma
Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p... ORPHA:97282
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas... ORPHA:97278
Citrullinemia, Classic
Hyperammonemia, Hyperglutaminemia, Cirrhosis, Hypoargininemia, Hepatomegaly, Elevated plasma citr... OMIM:215700
Somatostatinoma
Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p... ORPHA:97283
Polycythemia Vera
Acute leukemia, Polycythemia, Portal hypertension, Splenomegaly, Leukocytosis, Portal vein thromb... ORPHA:729
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Granuloma, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granu... OMIM:306400
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia OMIM:260920
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Cryptorchidism, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypoalbuminemia, Elevated circulating hepatic transaminase... ORPHA:99826
Gaucher Disease, Type Iiic
Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly OMIM:231005
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas... ORPHA:97261
Vici Syndrome
Failure to thrive, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:242840
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Abnormality of the pancreas ORPHA:935
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... ORPHA:77293
Fusariosis
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit... ORPHA:228119
Leukocyte Adhesion Deficiency Type Ii
Failure to thrive, Microcytic anemia, Leukocytosis, Hepatomegaly, Neutrophilia, Anemia, Small for... ORPHA:99843
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... ORPHA:906
Yellow Fever
Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase concentration, Elevated c... ORPHA:99829
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hepatic steatos... ORPHA:412
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen, Cryptorchidism OMIM:601186
Glucagonoma
Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p... ORPHA:97280
Porphyria, Congenital Erythropoietic
Cholelithiasis, Elevated circulating uroporphyrin concentration, Reduced erythrocyte uroporphyrin... OMIM:263700
Crimean-Congo Hemorrhagic Fever
Hepatic failure, Increased circulating lactate dehydrogenase concentration, Parotitis, Ascites, P... ORPHA:99827
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney OMIM:200995
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutr... ORPHA:391487
Hardikar Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:301068
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Reduced circulating transferrin concentration, Lymphopenia, Hypocholesterolemia,... ORPHA:90363
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
Glycogen Storage Disease Ic
Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatoblastoma, Hepatome... OMIM:232240
Whim Syndrome
Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia ORPHA:51636
Primary Sjögren Syndrome
Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Parotitis, Lymphopenia, Leukopeni... ORPHA:289390
Alkaptonuria
Methemoglobinemia, Hemolytic anemia, Black pigment gallstones ORPHA:56
Cystic Fibrosis
Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirrhosis, Pancreatitis... OMIM:219700

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 Cyp1a1

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 Cyp1a1.

No publications found that use IMPC mice or data for Cyp1a1.

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
Cyp1a1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cyp1a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cyp1a1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cyp1a1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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