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Gene: Cdk12 MGI:1098802

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Gene Summary

Name:

cyclin dependent kinase 12

Synonyms:

1810022J16Rik, Crkrs, D11Ertd752e, Crk7

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
abnormal spleen morphology		Cdk12^em1(IMPC)Tcp	HET		Early adult	0.00
abnormal urinary bladder morphology		Cdk12^em1(IMPC)Tcp	HET		Late adult	0.00
decreased circulating HDL cholesterol level		Cdk12^em1(IMPC)Tcp	HET		Early adult	8.57×10^-06
abnormal liver morphology		Cdk12^em1(IMPC)Tcp	HET		Late adult	0.00
decreased exploration in new environment		Cdk12^em1(IMPC)Tcp	HET		Late adult	9.81×10^-05
decreased hemoglobin content		Cdk12^em1(IMPC)Tcp	HET		Early adult	1.39×10^-11
preweaning lethality, complete penetrance		Cdk12^em1(IMPC)Tcp	HOM		Early adult	0.00
enlarged urinary bladder		Cdk12^em1(IMPC)Tcp	HET		Late adult	0.00
decreased hematocrit		Cdk12^em1(IMPC)Tcp	HET		Early adult	4.72×10^-12
increased red blood cell distribution width		Cdk12^em1(IMPC)Tcp	HET		Early adult	6.50×10^-06
decreased erythrocyte cell number		Cdk12^em1(IMPC)Tcp	HET		Early adult	1.03×10^-09
embryonic lethality prior to organogenesis		Cdk12^em1(IMPC)Tcp	HOM		E9.5	0.00
enlarged spleen		Cdk12^em1(IMPC)Tcp	HET		Late adult	0.00
increased spleen weight		Cdk12^em1(IMPC)Tcp	HET		Early adult	2.04×10^-07
increased heart weight		Cdk12^em1(IMPC)Tcp	HET		Early adult	1.97×10^-07

Download data as: TSV XLS

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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.

Eye Morphology

Images Slit Lamp

3 Images

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Eye Morphology

Images Ophthalmoscopy

155 Images

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Eye Morphology

Images Slit Lamp

51 Images

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Histopathology

Images

22 Images

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Gross Pathology and Tissue Collection

Images

13 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

27 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Immunophenotyping

Panel B FCS file(s)

2 Images

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Immunophenotyping

Panel A FCS file(s)

2 Images

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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.

Human diseases associated with Cdk12 (0 diseases)
Human diseases predicted to be associated with Cdk12 (375 diseases)

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		Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency		Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Hemoglobin H Disease		Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hemoglobin E-Beta-Thalassemia Syndrome		Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Fetal Cytomegalovirus Syndrome		Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Beta-Thalassemia, Dominant Inclusion Body Type		Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome		Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome		Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome		Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Ib		Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Atr-16 syndrome		Abnormal erythrocyte morphology	DECIPHER:65
Anemia, Sideroblastic, 3, Pyridoxine-Refractory		Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Hemoglobin-Delta locus		Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome		Splenomegaly, Hepatomegaly, Dementia	ORPHA:2274
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin		Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Cephalin Lipidosis		Abnormality of the spleen	OMIM:212800
Overhydrated Hereditary Stomatocytosis		Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Iron-Refractory Iron Deficiency Anemia		Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Thalassemia, Beta+, Silent Allele		Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1		Persistence of hemoglobin F	OMIM:141749
Hemoglobin E Disease		Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Thrombocytopenia With Congenital Dyserythropoietic Anemia		Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Erythrocytosis, Familial, 8		Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Anemia, Congenital Dyserythropoietic, Type Iv		Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hyperbilirubinemia, Shunt, Primary		Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Ia		Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Congenital Amegakaryocytic Thrombocytopenia		Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency		Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality		Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Alpha-Thalassemia		Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome		Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Acetophenetidin Sensitivity		Hemolytic anemia, Methemoglobinemia	OMIM:200300
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism		Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Delta-Beta-Thalassemia		Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Methemoglobinemia, Beta Type		Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type		Methemoglobinemia	OMIM:617973
Gaucher Disease, Atypical, Due To Saposin C Deficiency		Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Erythroleukemia, Familial, Susceptibility To		Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Cyanosis, Transient Neonatal		Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Reticuloendotheliosis, X-Linked		Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Immunodeficiency 16		Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Red Cell Phospholipid Defect With Hemolysis		Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities		Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Neutrophilia, Hereditary		Splenomegaly, Neutrophilia	OMIM:162830
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase		Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Alpha-Thalassemia-Myelodysplastic Syndrome		Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells		Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Polycythemia Vera		Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Glycoprotein Storage Disease		Splenomegaly	OMIM:232900
Rh Deficiency Syndrome		Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Alpha-Thalassemia Myelodysplasia Syndrome		Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Congenital Dyserythropoietic Anemia Type Iii		Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Immunodeficiency 69		Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Mosaic Variegated Aneuploidy Syndrome 4		Abnormality of chromosome stability	OMIM:620153
Erythrocytosis, Familial, 1		Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome		Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Proteasome-Associated Autoinflammatory Syndrome 5		Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Trimethylaminuria		Splenomegaly, Anemia, Neutropenia	OMIM:602079
Orotic Aciduria		Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Erythrocytosis, Familial, 3		Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Erythrocytosis, Familial, 5		Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Dehydrated Hereditary Stomatocytosis 2		Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Tyrosinemia Type 1		Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Beta-Thalassemia		Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Neutropenia, Severe Congenital, 5, Autosomal Recessive		Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Neutropenia, Severe Congenital, 9, Autosomal Dominant		Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Erythrocytosis, Familial, 4		Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Anemia, Congenital Dyserythropoietic, Type Ii		Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Erythrocytosis, Familial, 6		Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Hemophagocytic Lymphohistiocytosis, Familial, 4		Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Spherocytosis, Type 5		Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Hemophagocytic Lymphohistiocytosis, Familial, 3		Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Niemann-Pick Disease, Type B		Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Autoinflammation With Episodic Fever And Lymphadenopathy		Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Fraxf Syndrome		Folate-dependent fragile site at Xq28	ORPHA:100974
Hb Bart'S Hydrops Fetalis		Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Spherocytosis, Type 4		Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Erythrocytosis, Familial, 7		Increased hematocrit, Polycythemia	OMIM:617981
Spherocytosis, Type 2		Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Sickle Cell Anemia		Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Thrombocytopenia, Anemia, And Myelofibrosis		Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Cryohydrocytosis		Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Dominant Beta-Thalassemia		Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Hemochromatosis, Type 2B		Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Retinitis Pigmentosa And Erythrocytic Microcytosis		Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease		Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Anemia, Hypochromic Microcytic, With Iron Overload 2		Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Persistent Polyclonal B-Cell Lymphocytosis		Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency		Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Adenosine Triphosphate, Elevated, Of Erythrocytes		Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Spherocytosis, Type 1		Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Sea-Blue Histiocyte Disease		Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Alpha-Heavy Chain Disease		Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Thrombocytopenia With Beta-Thalassemia, X-Linked		Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Hypereosinophilic Syndrome, Idiopathic		Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Nephronophthisis 19		Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Dehydrated Hereditary Stomatocytosis		Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Hypobetalipoproteinemia, Familial, 1		Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Beta-Thalassemia		Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia		Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Hypertriglyceridemia, Transient Infantile		Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Familial Apolipoprotein Gene Cluster Deletion Syndrome		Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis		Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Cholestasis, Progressive Familial Intrahepatic, 12		Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
X-Linked Sideroblastic Anemia		Anemia, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Pyruvate Kinase Deficiency Of Red Cells		Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Ghosal Hematodiaphyseal Dysplasia		Splenomegaly, Anemia	ORPHA:1802
Asplenia, Isolated Congenital		Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Immunodeficiency 52		Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Ras-Associated Autoimmune Leukoproliferative Disorder		Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Acquired Idiopathic Sideroblastic Anemia		Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Diamond-Blackfan Anemia 3		Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity		Abnormality of chromosome stability	OMIM:600546
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1		Hepatomegaly, Anisocytosis	OMIM:604273
Bile Acid Synthesis Defect, Congenital, 5		Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Coproporphyria, Hereditary		Hepatomegaly, Confusion, Splenomegaly, Jaundice, Depression, Increased urinary porphobilinogen, E...	OMIM:121300
Gray Platelet Syndrome		Splenomegaly, Thrombocytopenia	ORPHA:721
Glut1 Deficiency Syndrome 2		Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Mu-Heavy Chain Disease		Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Portal Hypertension, Noncirrhotic, 1		Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Sandhoff Disease		Splenomegaly, Hepatomegaly, Motor deterioration, Progressive psychomotor deterioration	ORPHA:796
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss		Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 10		Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Splenoportal Vascular Anomalies		Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Mantle Cell Lymphoma		Splenomegaly, Lymphadenopathy	ORPHA:52416
Elliptocytosis 1		Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Progressive Familial Intrahepatic Cholestasis		Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Cognitive impairment	ORPHA:172
Immunodeficiency 84		Splenomegaly, B lymphocytopenia	OMIM:619437
Glycosylphosphatidylinositol Biosynthesis Defect 1		Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Overhydrated Hereditary Stomatocytosis		Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Harderoporphyria		Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp...	OMIM:618892
T-Cell Lymphoma, Subcutaneous Panniculitis-Like		Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Congenital Bile Acid Synthesis Defect Type 1		Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Encephalopathy Due To Prosaposin Deficiency		Splenomegaly, Hepatomegaly	ORPHA:139406
Short Fifth Metacarpals-Insulin Resistance Syndrome		Splenomegaly, Spherocytosis	ORPHA:66518
N Syndrome		Abnormality of chromosome stability	OMIM:310465
Bile Acid Synthesis Defect, Congenital, 1		Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun...	OMIM:607765
Hemolytic Disease Of Fetus And Newborn, Rh-Induced		Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Galactosemia Iii		Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Osteopetrosis, Autosomal Recessive 8		Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Amyloidosis, Familial Visceral		Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema		Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Galactose Epimerase Deficiency		Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Combined Oxidative Phosphorylation Deficiency 41		Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,...	OMIM:618838
Cholestasis, Progressive Familial Intrahepatic, 9		Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Thrombocythemia 1		Splenomegaly, Thrombocytosis	OMIM:187950
Sclerosing Cholangitis, Neonatal		Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Tangier Disease		Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Mitochondrial Complex I Deficiency, Nuclear Type 39		Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Immunodeficiency 109 With Lymphoproliferation		Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Ataxia-Pancytopenia Syndrome		Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Bone Marrow Failure Syndrome 6		Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Congenital Toxoplasmosis		Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Lymphoproliferative Syndrome 1		Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Neonatal Severe Primary Hyperparathyroidism		Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Immunodeficiency 104		Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Nijmegen Breakage Syndrome-Like Disorder		Chromosomal breakage induced by ionizing radiation	OMIM:613078
Mast Cell Sarcoma		Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Hereditary Elliptocytosis		Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Congenital Disorder Of Glycosylation, Type Iio		Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Fanconi Anemia, Complementation Group G		Abnormality of chromosome stability	OMIM:614082
Immunodeficiency 27A		Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Chronic Myeloid Leukemia		Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Diamond-Blackfan Anemia 4		Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect	OMIM:612527
Primary Familial Polycythemia		Polycythemia, Abnormal hemoglobin	ORPHA:90042
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2		Increased susceptibility to spontaneous sister chromatid exchange	OMIM:618097
Sitosterolemia 1		Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Immunodeficiency 76		Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Scleroderma, Familial Progressive		Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Cholestasis, Progressive Familial Intrahepatic, 3		Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Diamond-Blackfan Anemia 12		Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia	OMIM:615550
Glycogen Storage Disease Ixa1		Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Cholestasis-Lymphedema Syndrome		Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Beta-Thalassemia Intermedia		Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Immunodeficiency 42		Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Cholesteryl Ester Storage Disease		Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase		Methemoglobinemia, Polycythemia	OMIM:250800
Cardiomyopathy, Dilated, 1I		Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Leukocyte Adhesion Deficiency, Type Iii		Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency		Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Gaucher Disease, Type Iii		Hepatomegaly, Pancytopenia, Progressive neurologic deterioration, Splenomegaly, Depression, Demen...	OMIM:231000
Lipodystrophy, Congenital Generalized, Type 3		Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Aicardi-Goutieres Syndrome 6		Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Thrombocytopenia	OMIM:615010
Apolipoprotein C-Ii Deficiency		Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Diamond-Blackfan Anemia 6		Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per...	OMIM:612561
Immunodeficiency 32B		Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Felty Syndrome		Splenomegaly, Neutropenia	OMIM:134750
Osteopetrosis, Autosomal Dominant 3		Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis		Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc...	OMIM:612714
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency		Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Combined Immunodeficiency Due To Partial Rag1 Deficiency		Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Osteopetrosis, Autosomal Recessive 4		Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Immunodeficiency 48		Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Cholestasis-Lymphedema Syndrome		Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis		Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Autoimmune Lymphoproliferative Syndrome		Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Leishmaniasis		Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph...	ORPHA:507
Cholesteryl Ester Storage Disease		Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Sickle Cell Disease		Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Erythrocytosis, Familial, 2		Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Transcobalamin Deficiency		Abnormality of chromosome stability	ORPHA:859
Wolman Disease		Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Steatorrhea, Ascites, Anemia	ORPHA:75233
Chylomicron Retention Disease		Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrhea, Hypoc...	ORPHA:71
Hepatoportal Sclerosis		Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Autoinflammation With Pulmonary And Cutaneous Vasculitis		Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Diamond-Blackfan Anemia 5		Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Pseudo-Torch Syndrome 3		Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit...	OMIM:618886
Fanconi Anemia, Complementation Group J		Chromosomal breakage induced by crosslinking agents	OMIM:609054
Spinocerebellar Ataxia, Autosomal Recessive 21		Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Fish-Eye Disease		Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Cold Agglutinin Disease		Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Tempi Syndrome		Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome		Splenomegaly, Pancytopenia	OMIM:614979
Babesiosis		Hemolytic anemia, Hepatomegaly, Renal insufficiency, Confusion, Splenomegaly, Jaundice, Depressio...	ORPHA:108
Griscelli Syndrome Type 2		Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Sea-Blue Histiocytosis		Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Alpha-1-Antitrypsin Deficiency		Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome		Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To		Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Nodular Lymphocyte Predominant Hodgkin Lymphoma		Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Fanconi Anemia, Complementation Group O		Neonatal death, Chromosome breakage	OMIM:613390
Congenital Erythropoietic Porphyria		Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp...	ORPHA:79277
Portal Hypertension, Noncirrhotic, 2		Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Gamma-Heavy Chain Disease		Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Macrophage Activation Syndrome		Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Primary Myelofibrosis		Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Omenn Syndrome		Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Bile Acid Synthesis Defect, Congenital, 3		Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Beta-Thalassemia Major		Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Radial-Renal Syndrome		Chromosome breakage	OMIM:179280
Hemophagocytic Lymphohistiocytosis, Familial, 1		Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Hereditary Spherocytosis		Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Immunodeficiency 7		Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Autoimmune Lymphoproliferative Syndrome, Type Iii		Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Ornithine Transcarbamylase Deficiency		Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Drug-Induced Autoimmune Hemolytic Anemia		Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Hyperlipoproteinemia, Type I		Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Attrv122I Amyloidosis		Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca...	ORPHA:85451
Congenital Disorder Of Glycosylation, Type Iij		Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Irritability, Cirrhosis, Hepatic failure	OMIM:613489
Autoimmune Lymphoproliferative Syndrome, Type Iia		Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Immunodeficiency 98 With Autoinflammation, X-Linked		Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Immunodeficiency 54		Chromosome breakage	OMIM:609981
Follicular Lymphoma		Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Cholestasis, Progressive Familial Intrahepatic, 2		Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Lethal Hemolytic Anemia-Genital Anomalies Syndrome		Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant		Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Ataxia-Telangiectasia		Abnormality of chromosome stability	ORPHA:100
B-Cell Expansion With Nfkb And T-Cell Anergy		Splenomegaly, Increased B cell count	OMIM:616452
Fanconi Anemia, Complementation Group T		Chromosomal breakage induced by crosslinking agents	OMIM:616435
Gaisböck Syndrome		Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Fanconi Anemia, Complementation Group D1		Chromosomal breakage induced by crosslinking agents	OMIM:605724
Glycogen Storage Disease Ixb		Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Hyperlipoproteinemia, Type Id		Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Mitochondrial Complex Iv Deficiency, Nuclear Type 16		Chromosomal breakage induced by crosslinking agents	OMIM:619060
Chylomicron Retention Disease		Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Renal-Hepatic-Pancreatic Dysplasia 1		Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,...	OMIM:208540
Glycogen Storage Disease Ixc		Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Fragile X Syndrome		Folate-dependent fragile site at Xq28	OMIM:300624
Bile Acid Synthesis Defect, Congenital, 2		Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin		Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect, Increased size of n...	OMIM:619769
Maturity-Onset Diabetes Of The Young, Type 14		Elevated hemoglobin A1c	OMIM:616511
Gaucher Disease, Type I		Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy...	OMIM:230800
Hereditary Methemoglobinemia		Methemoglobinemia	ORPHA:621
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome		Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Wilson Disease		Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Fanconi Anemia, Complementation Group U		Chromosome breakage, Patent ductus arteriosus	OMIM:617247
Glycogen Storage Disease Xii		Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Hemochromatosis, Type 2A		Splenomegaly, Hepatomegaly, Cirrhosis	OMIM:602390
Hypermanganesemia With Dystonia 1		Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Pancreatic Lipase Deficiency		Hypocholesterolemia, Steatorrhea	OMIM:614338
Hemochromatosis, Type 1		Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Cardiomyo...	OMIM:235200
Maternal Uniparental Disomy Of Chromosome 4		Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Fragile X Syndrome		Folate-dependent fragile site at Xq28	ORPHA:908
Budd-Chiari Syndrome		Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Niemann-Pick Disease, Type A		Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Pfapa Syndrome		Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Caroli Disease		Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Shwachman-Diamond Syndrome 1		Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Thrombocytopenia, Steato...	OMIM:260400
Immunodeficiency 64 With Lymphoproliferation		Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Fanconi Anemia, Complementation Group S		Chromosome breakage	OMIM:617883
Cholestasis, Progressive Familial Intrahepatic, 1		Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Abetalipoproteinemia		Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocyto...	ORPHA:14
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant		Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Infantile Liver Failure Syndrome 3		Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Peroxisome Biogenesis Disorder 3B		Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia	OMIM:266510
Fanconi Anemia, Complementation Group V		Chromosomal breakage induced by crosslinking agents	OMIM:617243
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease		Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Autoimmune Hepatitis		Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Proteasome-Associated Autoinflammatory Syndrome 4		Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Farber Lipogranulomatosis		Splenomegaly, Hepatomegaly, Lipogranulomatosis, Irritability	OMIM:228000
Mucopolysaccharidosis, Type Iiib		Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Heparan sulfate excretion in ur...	OMIM:252920
Icf Syndrome		Umbilical hernia, Abnormality of chromosome stability	ORPHA:2268
Proteasome-Associated Autoinflammatory Syndrome 3		Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia,...	OMIM:617591
Indolent Systemic Mastocytosis		Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Gaucher Disease, Type Iiic		Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity		Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Lymphoproliferative Syndrome 2		Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Adams-Oliver Syndrome 6		Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Methemoglobinemia And Ambiguous Genitalia		Methemoglobinemia	OMIM:250790
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis		Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Potocki-Lupski Syndrome		Atrial septal defect, Patent foramen ovale, Hypocholesterolemia	OMIM:610883
Fanconi Anemia, Complementation Group Q		Chromosome breakage	OMIM:615272
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16		HbH hemoglobin, Microcytic anemia	ORPHA:98791
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome		Folate-dependent fragile site at Xq28	ORPHA:85327
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis		Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Coach Syndrome 1		Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abno...	OMIM:216360
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)		Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Myelofibrosis		Splenomegaly, Myeloproliferative disorder	OMIM:254450
Acquired Methemoglobinemia		Methemoglobinemia	ORPHA:464453
Squalene Synthase Deficiency		Bicuspid aortic valve, Increased circulating farnesol concentration, Decreased LDL cholesterol co...	OMIM:618156
Parenteral Nutrition-Associated Cholestasis		Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Cryoglobulinemic Vasculitis		Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha...	ORPHA:91138
Isolated Biliary Atresia		Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Fanconi Anemia, Complementation Group B		Abnormality of chromosome stability, Patent ductus arteriosus	OMIM:300514
Neonatal Lupus Erythematosus		Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr...	ORPHA:398124
Congenital Disorder Of Glycosylation, Type Ia		Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, Hypoalbuminemia, Hepatic fibros...	OMIM:212065
Transaldolase Deficiency		Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom...	OMIM:606003
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal		Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia	OMIM:618810
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin		Persistence of hemoglobin F	OMIM:617101
Lig4 Syndrome		Abnormality of chromosome stability	ORPHA:99812
Bone Marrow Failure Syndrome 3		Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome		Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Niemann-Pick Disease, Type C1		Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Diamond-Blackfan Anemia		Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Fanconi Anemia, Complementation Group I		Chromosomal breakage induced by crosslinking agents	OMIM:609053
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome		Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation		Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Granulomatous Disease, Chronic, Autosomal Recessive, 5		Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Fanconi Anemia, Complementation Group N		Chromosomal breakage induced by crosslinking agents	OMIM:610832
Autosomal Recessive Polycystic Kidney Disease		Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Fanconi Anemia, Complementation Group R		Chromosomal breakage induced by crosslinking agents	OMIM:617244
Systemic-Onset Juvenile Idiopathic Arthritis		Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Gaucher Disease Type 1		Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Hematuria...	ORPHA:77259
Primary Sclerosing Cholangitis		Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Immunodeficiency 47		Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Lead Poisoning		Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Thymoma		Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Autoimmune Hemolytic Anemia, Warm Type		Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Alg12-Cdg		Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, B lymphocytopenia, H...	ORPHA:79324
Dyskeratosis Congenita, Autosomal Recessive 8		Chromosomal breakage induced by crosslinking agents	OMIM:620133
Hardikar Syndrome		Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Bloom Syndrome		Chromosome breakage, Abnormality of chromosome stability	OMIM:210900
Secondary Intestinal Lymphangiectasia		Lymphopenia, Reduced circulating transferrin concentration, Chylous ascites, Hypoalbuminemia, Cir...	ORPHA:90363
Hereditary Orotic Aciduria		Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Fanconi Anemia, Complementation Group P		Chromosomal breakage induced by crosslinking agents	OMIM:613951
Fanconi Anemia, Complementation Group F		Patent ductus arteriosus, Chromosomal breakage induced by crosslinking agents	OMIM:603467
Fanconi Anemia, Complementation Group L		Chromosome breakage, Chromosomal breakage induced by crosslinking agents	OMIM:614083
Tyrosinemia, Type I		Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome...	OMIM:276700
Wilson Disease		Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Elevated...	OMIM:277900
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia		Splenomegaly, Leukocytosis	OMIM:618042
Glycogen Storage Disease Ib		Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Cartilage-Hair Hypoplasia		Abnormality of chromosome stability, Spinal dysraphism	ORPHA:175
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism		Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
Fanconi Anemia, Complementation Group E		Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl...	OMIM:600901
Heterotaxy, Visceral, 1, X-Linked		Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Acute Panmyelosis With Myelofibrosis		Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Fanconi Anemia, Complementation Group A		Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl...	OMIM:227650
Diamond-Blackfan Anemia 1		Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked		Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Per...	OMIM:301040
Congenital Tricuspid Valve Dysplasia		Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Fanconi Anemia, Complementation Group D2		Deficient excision of UV-induced pyrimidine dimers in DNA, Patent ductus arteriosus, Chromosomal ...	OMIM:227646
Fanconi Anemia, Complementation Group C		Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl...	OMIM:227645
Revesz Syndrome		Abnormality of chromosome stability	OMIM:268130
Fanconi Anemia		Umbilical hernia, Patent ductus arteriosus, Spina bifida, Abnormality of chromosome stability	ORPHA:84
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome		Abnormal hemoglobin, Anemia	ORPHA:847
Granulomatous Disease, Chronic, Autosomal Recessive, 1		Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2		Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Dubowitz Syndrome		Acute lymphoblastic leukemia, Aplastic anemia, Hypocholesterolemia	OMIM:223370
Granulomatous Disease, Chronic, Autosomal Recessive, 4		Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Nijmegen Breakage Syndrome		Abnormality of chromosome stability	ORPHA:647
Riddle Syndrome		Chromosomal breakage induced by ionizing radiation	ORPHA:420741
Kaufman Oculocerebrofacial Syndrome		Atrial septal defect, Ventricular septal defect, Hypocholesterolemia	OMIM:244450
Smith-Lemli-Opitz Syndrome		Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia...	OMIM:270400
Chronic Visceral Acid Sphingomyelinase Deficiency		Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Depression, Neoplasm of t...	ORPHA:77293
Meningioma		Chromosomal breakage induced by ionizing radiation	ORPHA:2495

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

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cdk12^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Cdk12^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cdk12^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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