Gene Summary

Name:
cyclin-dependent kinase 12
Synonyms:
1810022J16Rik,  Crkrs,  D11Ertd752e,  Crk7

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Cdk12em1(IMPC)Tcp HET Late adult 9.81×10-05
decreased circulating HDL cholesterol level Cdk12em1(IMPC)Tcp HET Early adult 1.20×10-05
enlarged spleen Cdk12em1(IMPC)Tcp HET Late adult 0.00
decreased erythrocyte cell number Cdk12em1(IMPC)Tcp HET Early adult 3.61×10-11
increased mean platelet volume Cdk12em1(IMPC)Tcp HET   Early adult 8.62×10-05
embryonic lethality prior to organogenesis Cdk12em1(IMPC)Tcp HOM   E9.5 0.00
enlarged urinary bladder Cdk12em1(IMPC)Tcp HET Late adult 0.00
abnormal liver morphology Cdk12em1(IMPC)Tcp HET Late adult 0.00
decreased hemoglobin content Cdk12em1(IMPC)Tcp HET Early adult 1.06×10-12
increased spleen weight Cdk12em1(IMPC)Tcp HET Early adult 1.12×10-07
preweaning lethality, complete penetrance Cdk12em1(IMPC)Tcp HOM   Early adult 0.00
increased red blood cell distribution width Cdk12em1(IMPC)Tcp HET Early adult 1.49×10-06
abnormal urinary bladder morphology Cdk12em1(IMPC)Tcp HET Late adult 0.00
increased heart weight Cdk12em1(IMPC)Tcp HET Early adult 1.51×10-06
decreased hematocrit Cdk12em1(IMPC)Tcp HET Early adult 1.74×10-12

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Electrocardiogram (ECG)

Waveform Image

2 Images

Eye Morphology

Images Ophthalmoscopy

155 Images

Histopathology

Images

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

51 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

27 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

2 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images

Human diseases caused by Cdk12 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 Cdk12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Dementia, Splenomegaly, Hepatomegaly ORPHA:2274
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Cirrhosis, Anisocytosis, Spleno... OMIM:616860
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Sitosterolemia 1
Abnormality of the liver, Impaired platelet aggregation, Hypercholesterolemia, Giant platelets, S... OMIM:210250
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Abnormal cardiac septum morphology ORPHA:3319
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis,... OMIM:237800
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly, Hyperbilirubinemia OMIM:179700
Fechtner syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:153640
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia,... OMIM:615234
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Reduced haptoglobin level, Anisocytosis, Jaundice, Spheroc... ORPHA:71275
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Atrial septal defect, Hypochromia, Anisocytosis, Ventri... OMIM:258900
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Abnor... ORPHA:848
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... OMIM:607616
Tyrosinemia Type 1
Generalized aminoaciduria, Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carc... ORPHA:882
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia, Hypertriglyceridemia OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis OMIM:612653
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reti... OMIM:616649
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Hyperbilirubinemia, Stomatocytosis, Retic... OMIM:185000
Nephronophthisis 19
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:616217
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... OMIM:613313
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231226
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reti... OMIM:182900
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Elli... OMIM:109270
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Hepatomegaly, H... OMIM:618278
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Ma... ORPHA:3202
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Syndromic Diarrhea
Tetralogy of Fallot, Hepatoblastoma, Abnormality of the liver, Cirrhosis, Thrombocytosis, Atrial ... ORPHA:84064
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Ventricular septal defect, Macrocytic anemia, Reticu... OMIM:615550
Sandhoff Disease
Hepatomegaly, Motor deterioration, Splenomegaly, Progressive psychomotor deterioration ORPHA:796
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Cholestasis, Hepatic bridging fibros... OMIM:619658
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Progressive Familial Intrahepatic Cholestasis
Cognitive impairment, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:616278
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Acanthocytosis, Intrahepatic cholestasis, Hyperbilirubinemia,... OMIM:607330
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Abnormality of the pancreas, Cholestasis, Thrombocytosis, Hypermethioninemia... OMIM:222470
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... ORPHA:79301
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Prolonged neonatal jaun... OMIM:618892
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly, Decreased circulating c... OMIM:618838
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Amyloidosis, Familial Visceral
Nephrotic syndrome, Cholestasis, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Nephropathy OMIM:105200
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
N Syndrome
Abnormality of chromosome stability OMIM:310465
Diamond-Blackfan Anemia 4
Atrial septal defect, Neutropenia, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion, Polycythemia OMIM:260900
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability OMIM:175800
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Exercise-induced hemolysis, Increas... OMIM:194380
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Takenouchi-Kosaki Syndrome
Abnormal cardiac septum morphology, Thrombocytopenia, Increased mean platelet volume, Pulmonic st... OMIM:616737
Coproporphyria, Hereditary
Anxiety, Splenomegaly, Increased urinary porphobilinogen, Jaundice, Hepatomegaly, Elevated urinar... OMIM:121300
Tangier Disease
Hepatosplenomegaly, Coronary artery stenosis, Orange discolored tonsils, Anemia, Chronic noninfec... ORPHA:31150
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Ascites, Cardiomegaly, Thrombocytopenia ORPHA:858
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis,... OMIM:266200
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of thrombocytes... OMIM:612840
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... OMIM:613011
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis, Neonatal cholesta... OMIM:214900
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hyperbiliru... OMIM:607765
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Macrocytic anemia, Atrial septal defect, Increased mean corpuscular volume, ... OMIM:612561
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B ly... OMIM:603554
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of urine homeostasis, Bili... ORPHA:1414
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... ORPHA:231222
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... OMIM:300635
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Diamond-Blackfan Anemia 5
Leukopenia, Ventricular septal defect, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612528
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Ele... OMIM:616828
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatome... OMIM:612526
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Pancreatitis, Thrombocytopenia, ... ORPHA:79312
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia, Cirrhosis ORPHA:75234
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Acanthocytosis, Hypocholesterolemia, ... ORPHA:71
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Lymphadenitis, Leukocytosis, Anemia, Cardiomegaly, ... OMIM:618886
Gaucher Disease, Type Iii
Pancytopenia, Dementia, Splenomegaly, Hepatomegaly, Progressive neurologic deterioration, Thrombo... OMIM:231000
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Wolman Disease
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Steatorrhea ORPHA:75233
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Leukopenia, Hepatosplenomegaly, Periportal fibrosis, Portal hypertension, Hepa... OMIM:278000
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Cognitive impairment, Leukopenia, Portal hypertension, Peripo... ORPHA:64743
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Splenomegaly, Hepatomegaly, Irritability, Thrombocytopenia OMIM:615846
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Abnormality of the lymphatic ... ORPHA:487796
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Leukopenia, Abnormal circulating porphyrin co... ORPHA:79277
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... ORPHA:158061
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Eleva... OMIM:619463
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Splenomegaly, Hepatomegaly, Irritability, Elevated hepatic transaminase, Cirrhosis OMIM:613489
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Nephrotic syndrome, Hepatosplenomegaly, Elevated circulat... OMIM:615559
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Griscelli Syndrome Type 2
Pancytopenia, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia... ORPHA:79477
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Hepatomegaly, ... ORPHA:822
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231214
Sickle Cell Anemia
Increased red cell sickling tendency, Cholelithiasis, Leukocytosis, Splenomegaly, Hepatomegaly, J... OMIM:603903
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Essential Thrombocythemia
Splenomegaly, Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology ORPHA:3318
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Adenosine deaminase, elevated, hemolytic anemia due to
Hyperuricemia, Elevated red cell adenosine deaminase level, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Hypertrophic cardiomyopathy, ... ORPHA:85451
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Immunodeficiency 54
Chromosome breakage OMIM:609981
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenome... OMIM:263200
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Hypoplasia of penis, Anemia, Ascites, Hypospadias ORPHA:1046
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Aggressive behavior, Acute he... ORPHA:905
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Thro... OMIM:610333
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fi... OMIM:251880
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Elevated hepatic... OMIM:235555
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Atrial septal defect, Increased size of nasopharyngeal adenoids, Ven... OMIM:619769
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Acanthocytosis, Elevated circulating creatine kinase concentration, Abnorma... ORPHA:96180
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Acute myeloid leukemia, Hepatomegaly, Neutropeni... OMIM:260400
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Gaucher Disease, Type Ii
Splenomegaly, Hepatomegaly, Anemia, Progressive neurologic deterioration, Thrombocytopenia OMIM:230900
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepa... ORPHA:131
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Aggressive behavior, Heparan sulfate excretion in urine, Progressive ... OMIM:252920
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Polycythemia, Cirrhosis, ... OMIM:613280
Babesiosis
Hepatic failure, Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Renal insuff... ORPHA:108
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Sp... OMIM:615947
Hemochromatosis, Type 2A
Cirrhosis, Splenomegaly, Hepatomegaly OMIM:602390
Gaucher Disease, Type I
Pancytopenia, Aortic valve stenosis, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocy... OMIM:230800
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Immunodeficiency 32B
Splenomegaly OMIM:226990
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Chromosome breakage OMIM:614083
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Abetalipoproteinemia
Hepatic steatosis, Cirrhosis, Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hepat... ORPHA:14
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hepatic failure, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphad... OMIM:308240
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:158048
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Cardiomyopathy, Ascites... OMIM:235200
Farber Lipogranulomatosis
Irritability, Splenomegaly, Hepatomegaly, Lipogranulomatosis OMIM:228000
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Anxiety, Glomerulonephritis, Splenomegaly, Ja... ORPHA:2137
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatic failure, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Sple... ORPHA:158057
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c OMIM:610582
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Hypertriglyceridemia, Lymp... OMIM:617591
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomega... OMIM:231005
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Icf Syndrome
Abnormality of chromosome stability, Umbilical hernia ORPHA:2268
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Thrombocytosis, Hepatomegaly, Cardiomyopathy, Hypoalbuminemia, Hypocholesterol... OMIM:212065
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Bloom Syndrome
Abnormality of chromosome stability, Chromosome breakage OMIM:210900
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:619183
Gaisböck Syndrome
Increased hematocrit, Increased circulating renin level, Cholecystitis, Hypercholesterolemia, Inc... ORPHA:90041
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Cholestasis, Chronic kidney disease, Hepatomegaly, Splenomegaly, Nephronophthisi... OMIM:615630
Niemann-Pick Disease, Type A
Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:257200
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Splenomegaly, Hepatomega... ORPHA:567983
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Portal hypertension, Multi... OMIM:216360
Hurler-Scheie Syndrome
Abnormality of the tonsils, Splenomegaly, Hepatomegaly ORPHA:93476
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Hepatomegaly OMIM:605309
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Proteinuria, Splenomega... OMIM:256550
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Abnormality of chromosome stability, Chromosome breakage OMIM:208910
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Increased circulating farnesol concentrat... OMIM:618156
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Re... ORPHA:91138
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Dark yellow urine, Bile duct proliferation, Atretic gallbladder... ORPHA:30391
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Potocki-Lupski Syndrome
Atrial septal defect, Hypocholesterolemia, Patent foramen ovale OMIM:610883
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Decreased liver function, Anemia, C... OMIM:606003
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Patent ductus arteriosus OMIM:300514
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly ORPHA:391
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Atrial septal defect, Erythroid hypoplasia, Acute myeloid leukemia, E... ORPHA:124
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Neonatal Lupus Erythematosus
Pancytopenia, Abnormality of the liver, Hepatic failure, Splenomegaly, Hepatomegaly, Neutropenia,... ORPHA:398124
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hepatic steatosis, Cholestasis, Splenomegaly, Myoglobinuria, Hepatomegaly... ORPHA:370
Niemann-Pick Disease, Type C1
Dementia, Fatal liver failure in infancy, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Pro... OMIM:257220
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cognitive impairment, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Asci... ORPHA:731
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Nephrotic syndrome, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurren... OMIM:618935
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Abnormal urinary color, Hemolytic anemia, Splenomegaly ORPHA:98375
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Ascites ORPHA:2414
Mucopolysaccharidosis, Type Iiic
Motor deterioration, Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine OMIM:252930
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Generalized lymphadenopathy, Hepatomegal... ORPHA:829
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Ascites, Pancrea... OMIM:276700
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:618810
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenomega... OMIM:610199
Niemann-Pick Disease, Type C2
Dementia, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Sea-bl... OMIM:607625
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Hematuria, Proteinuria, Biliary tract obstruction, Splenomegaly, Hepato... ORPHA:77259
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Nephrotic syndrome, Leukocytosis, Splenomegaly, Hep... ORPHA:39041
Symptomatic Form Of Hemochromatosis Type 1
Portal hypertension, Cholangiocarcinoma, Chronic hepatic failure, Splenomegaly, Hepatomegaly, Apa... ORPHA:465508
Duodenal Neuroendocrine Tumor
Increased hematocrit, Intrahepatic cholestasis with episodic jaundice, Tricuspid stenosis, Pulmon... ORPHA:100076
Mcleod Syndrome
Elevated circulating alanine aminotransferase concentration, Anxiety, Elevated circulating aspart... OMIM:300842
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hepatic steatosis, Cholestasis, Splenomegaly, Myoglobinuria, Hepatomegaly... ORPHA:264580
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Ventricular septal defect, Perimembranous ventricular septal defect, Reduced alph... OMIM:301040
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Decreased liver function, Neutropenia, An... ORPHA:540
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hydronephrosis, Hypersplenism... OMIM:301068
Alg12-Cdg
Hyponatremia, Patent foramen ovale, Biventricular hypertrophy, Muscular ventricular septal defect... ORPHA:79324
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Chylous ascites, Secondary hyperaldosteronism, Reduced circulating tra... ORPHA:90363
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603553
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3162
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents, Patent ductus arteriosus OMIM:603467
Primary Sclerosing Cholangitis
Cholelithiasis, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cholangiocarcinoma, Abnorma... ORPHA:171
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Splenomegaly, Aminoaciduria, Orotic acid crystalluria,... ORPHA:30
Joubert Syndrome With Hepatic Defect
Intrahepatic biliary atresia, Portal hypertension, Splenomegaly, Hepatomegaly, Neoplasm of the li... ORPHA:1454
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Emotional lability, Irritability, Splenomegaly, Hepatomegaly OMIM:201100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Splenomegaly, Myoglobinuria, Hepatomegaly, Anemia, Elevated hepatic trans... ORPHA:79240
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Spinal dysraphism ORPHA:175
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Splenomegaly, Hepatomegaly, Mucopolysacchariduria ORPHA:585
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Hepatocellular Carcinoma
Hypokalemia, Abnormality of the liver, Portal hypertension, Hyponatremia, Hypercalcemia, Thromboc... ORPHA:88673
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Hydronephrosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphop... OMIM:612541
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... ORPHA:464329
Scheie Syndrome
Splenomegaly, Hepatomegaly, Mucopolysacchariduria ORPHA:93474
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Hepatic failure, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Irritability, Hy... OMIM:259720
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:612387
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Splenomegaly, Hepatomegaly, Mucopolysacchariduria OMIM:272200
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Increased LDL cholesterol concentration, Abnormal T cell... ORPHA:330015
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Liver abscess, Mediastinal lymphadenopathy ORPHA:379
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Splenomegaly, Pancreatitis ORPHA:90970
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
X-Linked Lymphoproliferative Disease
Pancytopenia, Hepatic failure, Histiocytosis, Absent natural killer cells, Increased T cell count... ORPHA:2442
Fanconi Anemia
Abnormality of chromosome stability, Spina bifida, Umbilical hernia, Patent ductus arteriosus ORPHA:84
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne... OMIM:214500
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents OMIM:600901
Hyperparathyroidism, Neonatal Severe
Hypercalciuria, Polyuria, Splenomegaly, Hyperphosphaturia, Hepatomegaly, Aminoaciduria, Anemia OMIM:239200
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233710
Triosephosphate Isomerase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaun... OMIM:615512
Fanconi Anemia, Complementation Group A
Chromosomal breakage induced by crosslinking agents OMIM:227650
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents, Patent ductus arteriosus OMIM:227646
Q Fever
Abnormality of the liver, Hepatosplenomegaly, Hematuria, Cholecystitis, Splenomegaly, Hepatomegal... ORPHA:781
Familial Tumoral Calcinosis
Nephrocalcinosis, Splenomegaly, Hepatomegaly ORPHA:53715
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune... OMIM:102700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, Aminoaciduria, B lymphocyto... OMIM:616084
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233690
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents OMIM:227645
Niemann-Pick Disease Type C
Cognitive impairment, Low frustration tolerance, Abnormality of the liver, Hepatosplenomegaly, He... ORPHA:646
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Hemolytic anemia, Lymphadeno... ORPHA:1572
Nijmegen Breakage Syndrome
Abnormality of chromosome stability ORPHA:647
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Right ventricular hypertrophy OMIM:616028
Hyper-Igd Syndrome
Renal angiomyolipoma, Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Neutrophilia, Splenomegaly... OMIM:260920
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Hypocholesterolemia, Ventricular septal defect OMIM:244450
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Elevated hep... ORPHA:309854
Pearson Syndrome
Glycosuria, Exocrine pancreatic insufficiency, Pancytopenia, Lacticaciduria, Hepatic failure, Pro... ORPHA:699
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Hepatitis, Elev... ORPHA:3261
Reynolds Syndrome
Biliary cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic transaminase OMIM:613471
Gaucher Disease Type 3
Pancytopenia, Hematuria, Proteinuria, Dementia, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia ORPHA:77261
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Ascites, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver absces... OMIM:306400
Familial Mediterranean Fever
Nephrocalcinosis, Nephrotic syndrome, Proteinuria, Ascites, Peritonitis, Splenomegaly, Acute hepa... ORPHA:342
Familial Mediterranean Fever
Nephrotic syndrome, Leukocytosis, Peritonitis, Neutrophilia, Splenomegaly, Hepatomegaly, Stage 5 ... OMIM:249100
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Acute pancreatitis, Nephrolithiasis, Splenomegaly, Hepatomegaly, Elevated hepa... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Acute pancreatitis, Nephrolithiasis, Splenomegaly, Hepatomegaly, Elevated hepa... OMIM:269700
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Atrial septal defect, Ventricular septal defect, Cholestatic liver... OMIM:270400
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neoplas... ORPHA:77293

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 Cdk12

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 Cdk12.

No publications found that use IMPC mice or data for Cdk12.

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MGI Allele Allele Type Produced
Cdk12em1(IMPC)Tcp Exon Deletion Mice, Tissue
Cdk12tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cdk12tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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