Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
bromodomain containing 1
Synonyms:
1110059H06Rik

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 Brd1 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 Brd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... OMIM:615631
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Hyperlysinemia, Type I
Anemia, Ectopia lentis OMIM:238700
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:228312
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Decreased hemoglobin concentration,... OMIM:266200
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Microcytic an... ORPHA:848
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract, Neonatal death OMIM:273680
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice OMIM:613839
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hydrocephalus, Hepatomegaly, Splenomegaly, Pallor, Anemia ORPHA:163596
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Delayed puberty, Sideroblasti... OMIM:600462
Primary Myelofibrosis
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... ORPHA:824
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Leishmaniasis
Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Elevated hepatic ... ORPHA:507
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... OMIM:194380
Anemia, Sideroblastic, 1
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... OMIM:300751
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Jaundice OMIM:312500
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Short stature, Pallor, Anisocytosis, Poikilocytosis, Elevated ... ORPHA:98870
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Short stature, Pallor, Hepatosplenomegaly, Hemolytic anemia, R... OMIM:611590
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv... ORPHA:231222
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Megaloblastic anemia, Thrombocytopenia, Short stature ORPHA:49827
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa... ORPHA:300298
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Short stature ORPHA:3319
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Cold Agglutinin Disease
Hemolytic anemia, Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Elliptocytosis 1
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice OMIM:611804
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... OMIM:300908
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Autoimmune thrombocytope... ORPHA:1959
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema, Keratoconus, Cataract, Conjunctivitis OMIM:603165
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:98375
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:246400
Congenital Rubella Syndrome
Corneal opacity, Hepatomegaly, Jaundice, Splenomegaly, Short stature, Thrombocytopenia, Cataract,... ORPHA:290
Nephronophthisis
Anemia ORPHA:655
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... ORPHA:35858
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Retinitis Pigmentosa 60
Pallor OMIM:613983
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Short stature, Bone-marrow foam cells, Anemia... OMIM:607616
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Retinitis Pigmentosa 81
Pallor OMIM:617871
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia, Intrauterine growth retardation ORPHA:295
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Co... OMIM:603552
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Abnormal neutrophi... ORPHA:3226
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... OMIM:616860
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Congenital Toxoplasmosis
Hydrocephalus, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Anemia, Thrombocytopenia, I... ORPHA:858
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Optic Atrophy 9
Pallor OMIM:616289
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Growth delay, Anemia, Thrombocytopenia ORPHA:169079
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Sideroblastic anemia, Hepatom... OMIM:557000
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia, Hepatomegaly OMIM:246450
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatomegaly, Pallor, Eosinophilia, Hepatosplenomegaly, Abnor... ORPHA:331206
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Fanconi Anemia, Complementation Group G
Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Peripheral Cone Dystrophy
Pallor OMIM:609021
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Cataract, Anemia, Hepatic steatosis OMIM:606069
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia OMIM:613313
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia,... OMIM:611490
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia ORPHA:99931
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaundice ORPHA:90033
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Bleeding Disorder, Platelet-Type, 16
Petechiae, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Purpura, Asplenia, Short stature ORPHA:3204
Transaldolase Deficiency
Cirrhosis, Hepatosplenomegaly, Premature skin wrinkling, Anemia, Thrombocytopenia ORPHA:101028
Optic Atrophy 1
Pallor OMIM:165500
Bone Marrow Failure Syndrome 4
Short stature, Leukopenia, Dry skin, Rhizomelia, Anemia, Thrombocytopenia OMIM:618116
Alpha-Heavy Chain Disease
Growth delay, Anemia, Hepatomegaly, Splenomegaly ORPHA:100025
Hereditary Folate Malabsorption
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia ORPHA:90045
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Short stature, Pancytopenia OMIM:616435
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Hemochromatosis, Type 3
Lymphopenia, Cirrhosis, Elevated hepatic transaminase, Purpura, Neutropenia, Anemia OMIM:604250
Mu-Heavy Chain Disease
Anemia, Hepatomegaly, Abnormal B cell count, Splenomegaly ORPHA:100024
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... ORPHA:101096
Infantile Liver Failure Syndrome 1
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... OMIM:615438
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Anemia, Thrombocytopenia, Hepatomegaly ORPHA:2123
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia ORPHA:318
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia, Short stature OMIM:618165
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Sepsis In Premature Infants
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Purpura, N... ORPHA:90051
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, T... ORPHA:86839
Retinitis Pigmentosa 70
Pallor OMIM:615922
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Mild postnatal growth... OMIM:224120
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Retinitis Pigmentosa 27
Pallor OMIM:613750
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenome... OMIM:612840
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia ORPHA:276575
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Fumarase Deficiency
Polycythemia, Pallor, Cholestasis, Hepatic failure OMIM:606812
Immunodeficiency 46
Anemia, Conjunctivitis, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276556
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly ORPHA:28
Fanconi Anemia, Complementation Group I
Short stature, Pallor, Astigmatism, Neutropenia, Intrauterine growth retardation OMIM:609053
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Patent ductus arteriosus, An... OMIM:608104
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Hepatic steatosis,... ORPHA:905
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Growth delay, Neutropenia, Short stature, Persistence of hemog... ORPHA:124
Thrombocytopenia 5
Anemia, Thrombocytopenia, Petechiae, Neutropenia OMIM:616216
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Myelofibrosis
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Neutropenia, Growth delay, Anemia, Thrombocytopenia ORPHA:289916
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... OMIM:606003
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... OMIM:278000
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Pallor, Normocytic anemia, Abnormality of neutrophils, Purpura, Leukemia ORPHA:33226
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Leukopenia, Acute pancreat... ORPHA:20
Retinitis Pigmentosa 73
Pallor OMIM:616544
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... OMIM:301082
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly ORPHA:324575
Neonatal Lupus Erythematosus
Hydrocephalus, Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolyt... ORPHA:398124
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia ORPHA:27
American Trypanosomiasis
Pallor, Hepatomegaly, Splenomegaly ORPHA:3386
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemia, Anemic pallor ORPHA:329971
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Wolman Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Growth delay, Anemia, Bone-marrow foam cells ORPHA:75233
Cyclic Vomiting Syndrome
Pallor, Growth delay OMIM:500007
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Anemia, Intrauterine growth retardation, Neonatal death OMIM:618835
Fanconi Anemia, Complementation Group E
Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reti... OMIM:600901
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Anemia, Intrauterine growth retardation, Neonatal death OMIM:618839
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Short stature, Intrauterine growth retardation, Neutropenia OMIM:617056
Fanconi Anemia, Complementation Group A
Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reti... OMIM:227650
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Fanconi Anemia, Complementation Group C
Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Intr... OMIM:227645
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Beta-Ketothiolase Deficiency
Pallor, Thrombocytosis, Hepatomegaly, Leukocytosis ORPHA:134
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Petechiae, Congenital thrombocytopenia, Acanthocytosis, Poikiloc... OMIM:300367
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Short stature, Pallor, Thrombocytosis, Neutropenia, Primary congen... OMIM:105650
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-... OMIM:613011
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Pallor, Elevated hepatic transaminase, Pancreat... ORPHA:263455
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Splenomegaly, Short stature, Normo... OMIM:611881
Nevus Comedonicus Syndrome
Spina bifida, Cataract, Spina bifida occulta ORPHA:64754
Rh Deficiency Syndrome
Hypochromia, Jaundice, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemoly... ORPHA:71275
Fanconi Anemia, Complementation Group D2
Annular pancreas, Hydrocephalus, Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Pa... OMIM:227646
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Eosi... ORPHA:3260
Pituitary Apoplexy
Pallor, Normochromic anemia, Mydriasis ORPHA:95613
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Short stature, Neutropenia OMIM:617243
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Hemophagocytosis, Splenomegaly, Elevated circulating aspa... ORPHA:158061
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Short stat... OMIM:259720
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia OMIM:223350
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Hepatomegaly, Splenomegaly, Pallor, Growth delay, Anemia ORPHA:667
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Idiopathic Aplastic Anemia
Pancytopenia, Ecchymosis, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the pancreas, Elevated hepatic transaminase, Anemia, Liver abscess ORPHA:54251
Adenohypophysitis
Pallor, Normochromic anemia ORPHA:95512
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Short stature, Severe postnatal growth retardation, Cholestasis, Hypoc... ORPHA:440713
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... OMIM:210250
Retinitis Pigmentosa 51
Pallor OMIM:613464
Incontinentia Pigmenti
Keratitis, Leukocytosis, Short stature, Pallor, Eosinophilia, Erythema, Cataract OMIM:308300
Stormorken Syndrome
Short stature, Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Senior-Loken Syndrome 8
Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Dravet Syndrome
Pallor ORPHA:33069
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation, Microcornea, Short stature ORPHA:1327
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Hepatomegaly, Short stature, Persistence of hemoglobin F, Myoc... OMIM:260400
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Intrauterine growth retardation OMIM:618838
Orthostatic Hypotension 2
Anemia OMIM:618182
Panhypophysitis
Pallor, Normochromic anemia ORPHA:95513
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Nephronophthisis 11
Growth delay, Anemia, Anisocoria, Hepatic fibrosis OMIM:613550
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Short stature, Leukopenia, Dry skin, B lymphocytopenia, Rhizomelic arm shortening, C... ORPHA:508542
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:348
Sheehan Syndrome
Dry skin, Pallor, Normochromic anemia ORPHA:91355
Neutrophilic Dermatosis, Acute Febrile
Anemia, Erythema, Pyoderma gangrenosum OMIM:608068
Retinitis Pigmentosa 75
Pallor, Mixed astigmatism OMIM:617023
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly OMIM:618398
Diamond-Blackfan Anemia 10
Steroid-responsive anemia, Short stature, Macrocytic anemia, Patent ductus arteriosus, Growth del... OMIM:613309
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent... OMIM:615486
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Amish Lethal Microcephaly
Spina bifida, Hepatomegaly ORPHA:99742
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Degcags Syndrome
Hepatomegaly, Congenital hypoplastic anemia, Pallor, Leukopenia, Abnormal spleen morphology, Hepa... OMIM:619488
Pelvis-Shoulder Dysplasia
Hydrocephalus, Short stature, Retinal coloboma, Neonatal short-trunk short stature, Mesomelic/rhi... ORPHA:2839
Anophthalmia Plus Syndrome
Iris coloboma, Spina bifida ORPHA:1104
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Schisis Association
Encephalocele, Spina bifida, Anencephaly ORPHA:63862
Developmental And Epileptic Encephalopathy 50
Anemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis OMIM:616457
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Postnatal growth retardation, Cervical spina bifida, Growth delay, Chorioretinal coloboma OMIM:600122
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Leukocytosis, Pallor, Hemolytic anemia, Thrombocytopenia ORPHA:544482
Myopathy, Mitochondrial, And Ataxia
Pallor, Growth delay, Short stature OMIM:617675
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Hydrocephalus, Hepatomegaly, Pallor, Megalocornea ORPHA:137675
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Short stature OMIM:259730
Kasabach-Merritt Syndrome
Petechiae, Leukopenia, Reticulocytosis, Hepatic hemangioma, Purpura, Neutropenia, Microangiopathi... ORPHA:2330
Mosaic Trisomy 9
Corneal opacity, Abnormal liver lobulation, Patent ductus arteriosus, Spina bifida, Intrauterine ... ORPHA:99776
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Fountain Syndrome
Spina bifida, Erythema, Spina bifida occulta, Short stature ORPHA:3219
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Polycythemia, Pallor, Pancreatic cysts, Pancreatic islet cell adenoma ORPHA:892
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy OMIM:207950
Tangier Disease
Corneal opacity, Hepatosplenomegaly, Dry skin, Anemia, Thrombocytopenia ORPHA:31150
Focal Dermal Hypoplasia
Corneal opacity, Acute hepatic failure, Erythema, Iris coloboma, Hypoplasia of the iris, Patent d... ORPHA:2092
Fanconi Anemia
Intrauterine growth retardation, Abnormality of the liver, Hydrocephalus, Short stature, Leukopen... ORPHA:84
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Trisomy 18
Short stature, Holoprosencephaly, Anencephaly, Microcornea, Iris coloboma, Cataract, Cyclopia, Gr... ORPHA:3380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Buphthalmos, Pallor, Megalocornea, Opacification of the corneal stroma, Coloboma, ... OMIM:253280
Thrombocytopenia-Absent Radius Syndrome
Corneal opacity, Leukocytosis, Short stature, Eosinophilia, Hepatosplenomegaly, Cataract, Patent ... OMIM:274000
Tay-Sachs Disease
Pallor OMIM:272800
Hereditary Pheochromocytoma-Paraganglioma
Pallor, Aniridia ORPHA:29072
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Waardenburg Syndrome Type 1
Meningocele, Spina bifida, Heterochromia iridis ORPHA:894
Nail-Patella Syndrome
Microphakia, Short stature, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pteryg... OMIM:161200
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Jacobsen Syndrome
Annular pancreas, Short stature, Microcornea, Iris coloboma, Cataract, Growth delay, Thrombocytop... ORPHA:2308
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Rare Circulatory System Disease
Pallor ORPHA:98028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Limb Body Wall Complex
Myelomeningocele, Corneal opacity, Hydrocephalus, Lens subluxation, Short umbilical cord, Anencep... ORPHA:2369
Fibular Hemimelia
Abnormal anterior chamber morphology, Thrombocytopenia, Spina bifida ORPHA:93323
Prolactinoma
Pallor, Delayed puberty ORPHA:2965
22Q11.2 Deletion Syndrome
Cholelithiasis, Hydrocephalus, Splenomegaly, Corneal neovascularization, Short stature, Hypoplasi... ORPHA:567
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida, Cataract OMIM:616038
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Patent ductus arteriosus ORPHA:1120
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
Alternating Hemiplegia Of Childhood
Pallor, Mydriasis ORPHA:2131
Hallermann-Streiff Syndrome
Dry skin, Optic disc coloboma, Iris coloboma, Cataract, Proportionate short stature, Spina bifida... OMIM:234100
Neu-Laxova Syndrome
Lack of skin elasticity, Cataract, Pterygium, Spina bifida, Intrauterine growth retardation ORPHA:2671
Esophageal Atresia
Pallor, Growth delay, Coloboma ORPHA:1199
Multiple Endocrine Neoplasia Type 2
Pallor, Neoplasm of the liver, Prominent corneal nerve fibers ORPHA:653
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Microcornea, Arrhinencephaly, Spina bifida, Intrauterine grow... ORPHA:3412
Cerebrocostomandibular Syndrome
Myelomeningocele, Short stature, Hydranencephaly, Meningocele, Spina bifida, Intrauterine growth ... ORPHA:1393
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Neu-Laxova Syndrome 1
Intrauterine growth retardation, Short umbilical cord, Hydranencephaly, Small placenta, Cataract,... OMIM:256520
Pagod Syndrome
Short stature, Abnormality of the spleen, Meningocele, Encephalocele, Spina bifida ORPHA:991
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Waardenburg Syndrome, Type 1
Myelomeningocele, Hypoplastic iris stroma, Blue irides, Heterochromia iridis, Spina bifida OMIM:193500
Basal Cell Nevus Syndrome
Iris coloboma, Spina bifida, Cataract, Hydrocephalus OMIM:109400
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Rhizomelia, E... ORPHA:63259
Tsh-Secreting Pituitary Adenoma
Pallor, Delayed puberty ORPHA:91347
Aicardi Syndrome
Hepatoblastoma, Optic disc coloboma, Cataract, Postnatal growth retardation, Spina bifida OMIM:304050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Short stature, Retinal coloboma, Coloboma, Iris coloboma, Spin... ORPHA:508498
Rubinstein-Taybi Syndrome 1
Growth delay, Short stature, Accessory spleen, Hepatic hemangioma, Spina bifida occulta, Coloboma... OMIM:180849
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Hydrocephalus, Spina bifida, Developmental cataract ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Hydrocephalus, Spina bifida, Developmental cataract ORPHA:363958
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Patent ductus arteriosus, Cyst of the ductus choledochus OMIM:619480
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Short stature, Lisch nodules, Spina bifida OMIM:162200
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Campomelic Dysplasia
Disproportionate short-limb short stature, Neonatal short-limb short stature, Hydrocephalus, Spin... OMIM:114290
Vater/Vacterl Association
Intrauterine growth retardation, Patent ductus arteriosus, Postnatal growth retardation, Spina bi... OMIM:192350
Congenital Total Pulmonary Venous Return Anomaly
Pallor, Patent ductus arteriosus, Hepatomegaly ORPHA:99125
Split Cord Malformation
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele, Penetr... ORPHA:573278
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322

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 Brd1

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 Brd1.

No publications found that use IMPC mice or data for Brd1.

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MGI Allele Allele Type Produced
Brd1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Brd1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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