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Gene: Rnaseh2a MGI:1916974

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Gene Summary

Name:
ribonuclease H2, large subunit
Synonyms:
2400006P09Rik

Order Alleles

IMPC Data Collections

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
preweaning lethality, complete penetrance Rnaseh2aem1(IMPC)Tcp HOM   Early adult 0.00
increased spleen weight Rnaseh2aem1(IMPC)Tcp HET Early adult 2.07×10-10
decreased mean corpuscular hemoglobin Rnaseh2aem1(IMPC)Tcp HET Early adult 2.76×10-06
cataract Rnaseh2aem1(IMPC)Tcp HET   Early adult 4.91×10-05
decreased hemoglobin content Rnaseh2aem1(IMPC)Tcp HET Early adult 9.24×10-05
abnormal ovary morphology Rnaseh2aem1(IMPC)Tcp HET Early adult 0.00
thrombocytosis Rnaseh2aem1(IMPC)Tcp HET Early adult 1.38×10-05
increased monocyte cell number Rnaseh2aem1(IMPC)Tcp HET Early adult 1.35×10-20
embryonic lethality prior to tooth bud stage Rnaseh2aem1(IMPC)Tcp HOM   E12.5 0.00
improved glucose tolerance Rnaseh2aem1(IMPC)Tcp HET Early adult 8.11×10-05
increased mean platelet volume Rnaseh2aem1(IMPC)Tcp HET Early adult 8.47×10-05
decreased mean corpuscular volume Rnaseh2aem1(IMPC)Tcp HET Early adult 8.95×10-10
increased startle reflex Rnaseh2aem1(IMPC)Tcp HET Early adult 6.83×10-06

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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 Ophthalmoscopy

111 Images

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Eye Morphology

Images Slit Lamp

96 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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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Gross Pathology and Tissue Collection

Images

8 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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Human diseases caused by Rnaseh2a 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.

The table below shows human diseases associated to Rnaseh2a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Dystonia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Dystonia, Developmental glaucoma, Micropenis, Neonatal alloimmune thrombocyto... ORPHA:51

The table below shows human diseases predicted to be associated to Rnaseh2a 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
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Thrombocythemia 3
Thrombocytosis OMIM:614521
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Cholestasis, Thrombocytosis... ORPHA:232
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Fechtner syndrome
Developmental cataract, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bodies,... OMIM:153640
Myh9-Related Disease
Giant platelets, Presenile cataracts, Neutrophil inclusion bodies, Congenital thrombocytopenia, I... ORPHA:182050
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia OMIM:616871
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Thrombocytosis OMIM:604416
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Cryptorchidism, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Sitosterolemia 1
Abnormality of the liver, Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic h... OMIM:210250
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hepatomegaly, Hemolyt... OMIM:614034
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphop... OMIM:612541
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... OMIM:615234
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Hepatomegaly, Lymphadenopathy, T... OMIM:619644
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis, Micropenis OMIM:610680
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Ane... ORPHA:848
Immunodeficiency 92
Sclerosing cholangitis, Leukocytosis, Cholangitis, Thrombocytosis, Hepatomegaly, B lymphocytopeni... OMIM:619652
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Hemochromatosis, Type 4
Hepatic steatosis, Cataract, Hepatomegaly, Anemia, Diabetes mellitus, Cirrhosis, Glucose intolera... OMIM:606069
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Developmental cataract, Developmental glaucoma, Hyperinsu... OMIM:147630
Spastic Paraparesis And Deafness
Cataract, Hypogonadism, Tremor OMIM:312910
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Cirrhosis, Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Elevat... OMIM:616860
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Cataract, Acanthocytosis, Ambiguous genitalia, male, Intrahep... OMIM:607330
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian insufficiency ORPHA:100025
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Sting-Associated Vasculopathy, Infantile-Onset
Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Anemia, Follicular hyperplasia, Lymphop... OMIM:615934
X-Linked Sideroblastic Anemia
Anemia, Glucose intolerance, Splenomegaly ORPHA:75563
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Micropenis, Abnormality of the ovary, True herma... ORPHA:199310
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Hepatomegaly, Ascites OMIM:226300
3-Methylglutaconic Aciduria Type 4
Cataract, Hypoglycemia, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Methemoglobinemia And Ambiguous Genitalia
Micropenis, Male pseudohermaphroditism, Bifid scrotum, Ambiguous genitalia, Methemoglobinemia, Hy... OMIM:250790
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Blackfan-Diamond Anemia
Developmental cataract, Leukopenia, Developmental glaucoma, Thrombocytosis, Erythroid hypoplasia,... ORPHA:124
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Poems Syndrome
Thrombocytosis, Ascites, Visceromegaly, Increased circulating prolactin concentration, Diabetes m... ORPHA:2905
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Thrombocytosis, Interface hepatitis, Autoimmune hemolytic anemia, Impaired lymphocy... OMIM:243150
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, ... OMIM:615688
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Congenital Rubella Syndrome
Cataract, Corneal opacity, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Aplasia/Hypoplasia of th... ORPHA:290
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Thrombocytosis, Splenomegaly, Hepatomegaly, ... ORPHA:84064
Galactose Epimerase Deficiency
Cataract, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Takenouchi-Kosaki Syndrome
Cryptorchidism, Thrombocytopenia, Hypospadias, Increased mean platelet volume OMIM:616737
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... ORPHA:231222
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Cogan Syndrome
Leukocytosis, Thrombocytosis, Anemia, Keratitis, Conjunctivitis ORPHA:1467
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia, Cataract OMIM:257790
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Beta-Ketothiolase Deficiency
Hypoglycemia, Leukocytosis, Thrombocytosis, Hepatomegaly, Hyperglycemia ORPHA:134
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Leukopenia, Nonketotic hypoglycemia, Leukocytosis, Thrombocytosis, Recurrent ... ORPHA:20
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
3-Methylglutaconic Aciduria, Type Viib
Neutropenia, Cataract OMIM:616271
Trichohepatoenteric Syndrome 1
Abnormality of the pancreas, Cholestasis, Thrombocytosis, Hepatomegaly, Jaundice, Cirrhosis, Hepa... OMIM:222470
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly, Hyperinsulinemia ORPHA:66518
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Thrombocytosis, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotrop... OMIM:212065
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion, Abnormal erythrocyte mor... ORPHA:324636
Hepatocellular Carcinoma
Polycythemia, Hypoglycemia, Portal hypertension, Abnormality of the liver, Thrombocytosis, Ascite... ORPHA:88673
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis, Hypogonadism OMIM:613313
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... ORPHA:98870
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Interstitial Lung And Liver Disease
Hepatic steatosis, Cholestasis, Thrombocytosis, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis OMIM:615486
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Iron deficiency anemia, Type I diabetes mellitus, Macrocytic anemia OMIM:212750
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Increased mean corpuscular hemoglobin c... OMIM:194380
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of thrombocytes... OMIM:612840
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Dystonia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chronic hepatitis, M... ORPHA:3260
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Galactosemia I
Cataract, Hepatomegaly, Hemolytic anemia, Cirrhosis, Premature ovarian insufficiency, Hypergonado... OMIM:230400
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Cataract, Dystonia, Tremor OMIM:617248
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Prolo... OMIM:300908
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Diabetes mellitus, Ascites, Cirrhosis, Hepati... OMIM:271500
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Cataract, Hepatomegaly, Nuclear cataract, Pre... ORPHA:79237
Brucellosis
Abnormality of the liver, Leukopenia, Leukocytosis, Lung abscess, Thrombocytosis, Orchitis, Splen... ORPHA:1304
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Ly... OMIM:603554
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Classic Galactosemia
Hypoglycemia, Dystonia, Action tremor, Cryptorchidism, Cataract, Hepatomegaly, Jaundice, Ascites,... ORPHA:79239
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Galactosemia
Action tremor, Dystonia, Cryptorchidism, Cataract, Hepatomegaly, Jaundice, Ascites, Cirrhosis, Pr... ORPHA:352
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Dominant Beta-Thalassemia
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231226
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormality of the lymphatic system, Thrombocytopenia, Hypospadias, Increased mean platelet volume ORPHA:487796
Beta-Thalassemia Major
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231214
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Cataract, Hepatomegaly, Pancreatitis OMIM:618805
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
Harderoporphyria
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia, Reticulocytosis OMIM:618892
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Primary congenital glaucoma, Thrombocytosis, Elevated red cell ade... OMIM:105650
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Leukocytosis, Thrombocytosis, Anoperineal fistula, Perianal abscess OMIM:618213
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume, Dystonia OMIM:277410
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Neuroleptic Malignant Syndrome
Leukocytosis, Oculogyric crisis, Thrombocytosis, Thrombocytopenia, Tremor ORPHA:94093
Leukocyte Adhesion Deficiency
Leukocytosis, Impaired neutrophil chemotaxis, Impaired platelet aggregation, Bone marrow hypocell... ORPHA:2968
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Cataract, Hepatomegaly, Type I diabetes mellitus ORPHA:251009
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Gonadal calcification, Ambiguous genitalia, Fem... ORPHA:206484
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Shwachman-Diamond Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Chronic neutropenia, Anemia, Diabetes mellitus, ... ORPHA:811
Mevalonic Aciduria
Cataract, Splenomegaly ORPHA:29
Stiff-Person Syndrome
Anemia, Opisthotonus, Diabetes mellitus, Exaggerated startle response OMIM:184850
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopath... ORPHA:79477
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Methylcobalamin Deficiency Type Cble
Pancytopenia, Abnormality of the liver, Neutropenia, Increased mean corpuscular volume, Macrocyti... ORPHA:2169
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Band keratopathy, Thymoma, Chronic hepatitis, Cataract, Iron d... OMIM:269200
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Hypospadias, Cryptorchidism, HbH hemoglobin ORPHA:98791
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis OMIM:618398
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne... OMIM:214500
Mody
Glycosuria, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Pancreatic hypoplasia, Hepa... ORPHA:552
Essential Thrombocythemia
Splenomegaly, Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology ORPHA:3318
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Neuraminidase Deficiency
Vacuolated lymphocytes, Cataract, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Ascites, Ca... OMIM:256550
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Astigmatism, Thrombocytopenia, Cryptorchidism ORPHA:261250
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism, Increased size of nasopharyngeal adenoids OMIM:619769
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Cataract 47
Glycosuria, Microcornea, Cataract OMIM:612018
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Pseudo-Torch Syndrome 1
Dystonia, Cataract, Splenomegaly, Hepatomegaly, Jaundice, Opacification of the corneal stroma, Th... OMIM:251290
Ovarian Fibroma
Mesenteric cyst, Abnormality of the ovary, Peritonitis, Gonadal calcification, Ascites, Ovarian f... ORPHA:314473
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Abnormal salivary gland morphology, Fasting hypoglycemia, Leuk... ORPHA:2298
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Cataract, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Cataract, Fluctuating splenomega... OMIM:610377
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus OMIM:619278
Diamond-Blackfan Anemia 7
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612562
Fish-Eye Disease
Lymphadenopathy, Corneal opacity, Splenomegaly, Hepatomegaly ORPHA:79292
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Acute myeloid leukemia, Hepatomegaly, Neutropeni... OMIM:260400
Sickle Cell Anemia
Increased red cell sickling tendency, Cholelithiasis, Leukocytosis, Splenomegaly, Hepatomegaly, J... OMIM:603903
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Cryptorchidism, Micropenis, Supernumerary nipple, HbH hemoglobin, Reduced alpha/beta synthesis ra... OMIM:141750
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Peritonitis, Gonadal calcification, Asc... ORPHA:314478
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, Band keratopathy, T lymphocytopenia, Hepatic steatosis, Micropenis, Cataract, ... ORPHA:2959
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Female hypogonadism, Cataract, Hypoparathyroidism, Male hypogonadism, Asplenia, C... OMIM:240300
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypochromic anemia, Cataract, Abnormality of neutrophils, Ocular albinism, Iris hypopigmentation ORPHA:2720
Proteus-Like Syndrome
Heterochromia iridis, Polycystic ovaries, Cataract, Splenomegaly, Abnormality of the parathyroid ... ORPHA:2969
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Cataract, Male hypogonadism, Hypogonadism OMIM:240950
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Insulin resistance, Micropenis, Abnormality of the ovary, Cataract, Astigmatism... OMIM:209900
Thymoma
Leukemia, Prostate neoplasm, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Cataract, Thrombocytopenia, Neutropenia, Anemia, B lymph... ORPHA:508542
Lathosterolosis
Microcornea, Cataract, Hypoplasia of penis, Hepatomegaly, Intrahepatic cholestasis, Anisopoikiloc... ORPHA:46059
Doors Syndrome
Thrombocytosis, Adrenal hyperplasia, Cataract, Ambiguous genitalia ORPHA:79500
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Cataract, Uterine leiomyosarcoma, Vaginal neoplasm ORPHA:523
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Cryptorchidism, Hypoplasia of penis, Male pseudohermaphroditis... ORPHA:847
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Neonatal hypoglycemia, Opisthotonus, Bone marrow hypocellularity, Cataract, Ne... ORPHA:445038
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Alpha-Mannosidosis, Adult Form
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly ORPHA:309288
Hereditary Cryohydrocytosis With Reduced Stomatin
Zonular cataract, Hepatosplenomegaly, Cataract, Jaundice, Spontaneous hemolytic crises, Stomatocy... ORPHA:168577
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Micropenis, Shawl scrotum, HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hy... OMIM:301040
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cataract, Giant cell hepatitis, Type II diabetes mellitus, Cholestatic liver dise... ORPHA:79095
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cryptorchidism, Cataract, Corneal opacity, Athetosis, Anemia, Ocular albinism, Iris hypopigmentation ORPHA:2719
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Cataract, Conjunctivitis, Anemia OMIM:226600
Dyskeratosis Congenita
Cirrhosis, Bone marrow hypocellularity, Abnormal morphology of female internal genitalia, Catarac... ORPHA:1775
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Glycosuria, Exocrine pancreatic insufficiency, Abnormality of t... ORPHA:699
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the u... ORPHA:3130
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Sandhoff Disease
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly, Exaggerated startle response OMIM:268800
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Stiff Person Spectrum Disorder
Diabetes mellitus, Exaggerated startle response ORPHA:3198
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries ORPHA:2795
Lead Poisoning
Abnormal sperm morphology, Imbalanced hemoglobin synthesis, Anemia, Oligospermia, Abnormal T cell... ORPHA:330015
Dyskeratosis Congenita, X-Linked
Pancytopenia, Pterygium, Leukopenia, Bone marrow hypocellularity, Cirrhosis, Cryptorchidism, Uret... OMIM:305000
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Sclerocornea, Microcornea, Cataract, Cryptorchidism, True her... ORPHA:564
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Tetraamelia Syndrome 1
Adrenal gland agenesis, Cataract, Vaginal atresia, Absent external genitalia, Hypoplasia of the f... OMIM:273395
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Eisenmenger Syndrome
Abnormality of the liver, Hepatomegaly, Iron deficiency anemia, Increased mean corpuscular volume... ORPHA:97214
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal ovarian morphology, Polycystic ovaries, Cryptorchidism, Micropenis, Abnormality of femal... ORPHA:95699
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Dystonia, Laryngeal dystonia, Precocious puberty, Exaggerated startle response, Tremor ORPHA:845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Exaggerated startle response OMIM:253800
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the anterior pituitary, Dystonia, Cryptorchidism, Uterine prolapse, Increased circ... ORPHA:438213
Turner Syndrome
Hepatic steatosis, Biliary cirrhosis, Hyperinsulinemia, Abnormality of the ovary, Neck pterygia, ... ORPHA:881
Mosaic Monosomy X
Hepatic steatosis, Biliary cirrhosis, Hyperinsulinemia, Abnormality of the ovary, Neck pterygia, ... ORPHA:99228
Monosomy X
Hepatic steatosis, Biliary cirrhosis, Hyperinsulinemia, Abnormality of the ovary, Neck pterygia, ... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic steatosis, Biliary cirrhosis, Hyperinsulinemia, Abnormality of the ovary, Neck pterygia, ... ORPHA:99413
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Dystonia, Developmental glaucoma, Micropenis, Neonatal alloimmune thrombocyto... ORPHA:51
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hematocolpos, Chordee, Cryptorchidism, Hypospadias, Exaggerated startle response, Hydrocele testi... OMIM:619522

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 Rnaseh2a

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 Rnaseh2a.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Two RNase H2 Mutants with Differential rNMP Processing Activity Reveal a Threshold of Ribonucleotide Tolerance for Embryonic Development. Cell reports (October 2018) Rnaseh2atm1(KOMP)Wtsi PMC6309994

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MGI Allele Allele Type Produced
Rnaseh2atm433006(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rnaseh2atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rnaseh2atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rnaseh2atm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Rnaseh2aem1(IMPC)Tcp Exon Deletion Mice

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