Gene: Ofcc1 MGI:2658851

Log in to follow

Gene Summary

Name:
orofacial cleft 1 candidate 1
Synonyms:
ojoplano,  Opo

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
thrombocytopenia Ofcc1em1(IMPC)J HOM Late adult 1.94×10-05
decreased thigmotaxis Ofcc1em1(IMPC)J HOM   Early adult 5.02×10-05
decreased grip strength Ofcc1em1(IMPC)J HOM Early adult 1.90×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Ofcc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ofcc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Elevated circulating creatine kinase concentration OMIM:616687
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration OMIM:612932
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Myopathy, Vacuolar, With Casq1 Aggregates
Elevated circulating creatine kinase concentration OMIM:616231
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration OMIM:614321
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Elevated circulating creatine kinase concentration OMIM:617232
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Elevated circulating creatine kinase concentration OMIM:618135
Thrombocythemia 3
Thrombocytosis OMIM:614521
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... OMIM:173590
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Thrombocythemia 2
Thrombocytosis OMIM:601977
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Immunodeficiency 62
Autoimmune thrombocytopenia OMIM:618459
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Geniospasm 1
Anxiety OMIM:190100
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration OMIM:606768
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Anemia OMIM:616435
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly ORPHA:721
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Abnormal alpha granule content, Abnormal... OMIM:601399
Myopathy Due To Malate-Aspartate Shuttle Defect
Elevated circulating creatine kinase concentration OMIM:254960
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
+173470 integrin, beta-3
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thro... OMIM:173470
Malaria
Thrombocytopenia, Anemia ORPHA:673
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated N,N-dimethylglycine level OMIM:605850
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia OMIM:601709
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration ORPHA:243343
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia ORPHA:88
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Refractory anemia OMIM:231095
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia OMIM:613987
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Sengers Syndrome
Thrombocytopenia OMIM:212350
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Isovaleric Acidemia
Thrombocytopenia, Pancytopenia, Leukopenia OMIM:243500
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Impaired colla... OMIM:139090
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Sp... OMIM:308240
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia OMIM:619151
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomegaly OMIM:150550
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:848
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:101028
Babesiosis
Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly ORPHA:108
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Leukopenia OMIM:152700
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia ORPHA:507
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemi... ORPHA:824
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia OMIM:603585
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Anemia, Leukopenia, Macrocytic anemia ORPHA:27
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Isolated Agammaglobulinemia
Thrombocytopenia, Abnormal lymphocyte morphology, Anemia, Abnormality of neutrophils ORPHA:229717
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly OMIM:615846
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Neutropenia, Anemia, Splenomegaly ORPHA:79312
Bleeding Disorder, Platelet-Type, 17
Thrombocytopenia, Abnormal thrombocyte morphology, Absence of alpha granules OMIM:187900
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:259710
Preeclampsia
Thrombocytopenia ORPHA:275555
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Rhabdoid Tumor
Thrombocytopenia, Anemia ORPHA:69077
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Ane... OMIM:304790
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia ORPHA:319218
Lig4 Syndrome
Thrombocytopenia, Pancytopenia OMIM:606593
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Letterer-Siwe Disease
Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Anemia OMIM:246400
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Anemia, Splenomegaly ORPHA:398124
Congenital Rubella Syndrome
Thrombocytopenia, Anemia, Splenomegaly ORPHA:290
Stormorken Syndrome
Thrombocytopenia, Asplenia, Howell-Jolly bodies, Anemia OMIM:185070
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Thrombocytopenia OMIM:616577
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Neutropenia, Anemia OMIM:614857
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Anemia OMIM:611209
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia OMIM:608104
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Anemia, Splenomegaly ORPHA:2785
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia OMIM:613989
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Abnormal... ORPHA:86839
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Marburg Hemorrhagic Fever
Thrombocytopenia, Leukopenia ORPHA:99826
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Tularemia
Thrombocytopenia, Anemia, Leukocytosis ORPHA:3392
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Thrombocytopenia, Splenomegaly, Leukopenia, Anemi... OMIM:278000
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Decreased ost... OMIM:259720
Griscelli Syndrome
Thrombocytopenia, Abnormality of neutrophils, Leukopenia, Splenomegaly ORPHA:381
Hermansky-Pudlak Syndrome 5
Thrombocytopenia OMIM:614074
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia, Leukopenia ORPHA:292
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Transaldolase Deficiency
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:606003
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:606054
Crimean-Congo Hemorrhagic Fever
Thrombocytopenia, Leukopenia ORPHA:99827
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Thrombocytopenia, Anemia, Leukopenia OMIM:613845
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia ORPHA:520
Relapsing Fever
Leukocytosis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia ORPHA:91547
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia OMIM:242900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Leukopenia OMIM:251000
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis OMIM:274150
Dengue Fever
Thrombocytopenia, Leukopenia ORPHA:99828
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
X-Linked Agammaglobulinemia
Thrombocytopenia, Neutropenia, Anemia ORPHA:47
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Neutropenia, Thrombocytopenia, Reduced natural killer ... OMIM:608233
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:47612
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277380
Boutonneuse Fever
Thrombocytopenia, Leukopenia ORPHA:83313
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:259700
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Cyclic Neutropenia
Thrombocytopenia, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia ORPHA:2686
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... ORPHA:79124
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Wilson Disease
Thrombocytopenia, Anemia, Splenomegaly ORPHA:905
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis OMIM:235400
Prolidase Deficiency
Thrombocytopenia, Anemia, Splenomegaly OMIM:170100
Fanconi Anemia, Complementation Group E
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:600901
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:614576
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Anemia, Leukocytosis ORPHA:90060
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:169090
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukopenia ORPHA:508542
Fanconi Anemia, Complementation Group A
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227650
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia OMIM:613990
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Gaucher Disease Type 1
Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Hypersplenism, Leukopenia ORPHA:77259
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:540
Lassa Fever
Thrombocytopenia, Leukopenia ORPHA:99824
Necrotizing Enterocolitis
Thrombocytopenia, Neutropenia, Leukocytosis ORPHA:391673
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly OMIM:308230
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Dyskeratosis Congenita, Autosomal Dominant 1
Thrombocytopenia, Lymphopenia, Aplastic anemia, Anemia OMIM:127550
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia OMIM:617303
Immunodeficiency 59 And Hypoglycemia
Thrombocytopenia, Hypochromic anemia, Granulocytopenia, Leukocytosis OMIM:233600
Good Syndrome
Thrombocytopenia, Abnormal leukocyte morphology, Anemia ORPHA:169105
Mevalonic Aciduria
Leukocytosis, Thrombocytopenia, Anemia, Normocytic hypoplastic anemia, Hepatosplenomegaly, Fluctu... OMIM:610377
Shwachman-Diamond Syndrome
Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Normocytic anemia, Pancytopenia... ORPHA:811
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia ORPHA:93552
Mirage Syndrome
Lymphopenia, Thrombocytopenia, Anemia, Leukopenia, Hypoplastic spleen OMIM:617053
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:225750
Pediatric-Onset Graves Disease
Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly ORPHA:525731
Proteasome-Associated Autoinflammatory Syndrome 3
Thrombocytopenia, Lymphopenia, Anemia, Splenomegaly OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia, Hepatosplenom... OMIM:603553
Fanconi Anemia, Complementation Group C
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227645
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Thrombocytopenia, Leukopenia OMIM:301056
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Abnormal leukocyte morphology, Anemia ORPHA:3322
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly OMIM:251880
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia OMIM:267700
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Vacuolated lymphocytes, Abnormal natu... ORPHA:167
Avian Influenza
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:454836
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatosplenomegaly, Anemia, Splenomegaly OMIM:608013
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Adams-Oliver Syndrome
Thrombocytopenia, Leukopenia ORPHA:974
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Neutropenia, Normocytic anemia OMIM:617941
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia OMIM:300514
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:90051
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Anemia, Leukop... ORPHA:2330
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia OMIM:224230
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis ORPHA:340
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Kaposiform Lymphangiomatosis
Abnormal spleen morphology, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly ORPHA:464329
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Anemia, Leukopenia OMIM:603467
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia ORPHA:464343
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
Hellp Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hemolytic anemia, Decreased mean corpuscular... ORPHA:244242
Lathosterolosis
Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology ORPHA:46059
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277400
Fanconi Anemia, Complementation Group D2
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227646
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Farber Disease
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:333
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Thrombocytopenia, Schistocytosis ORPHA:90038
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Nijmegen Breakage Syndrome
Thrombocytopenia, T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia OMIM:251260
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Ivic Syndrome
Thrombocytopenia, Leukocytosis OMIM:147750
Bacterial Toxic-Shock Syndrome
Thrombocytopenia, Increased circulating myelocyte count, Increased circulating metamyelocyte count ORPHA:36234
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Shigellosis
Splenic abscess, Microangiopathic hemolytic anemia, Thrombocytopenia, Leukocytosis ORPHA:810
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Hepatosplenomegaly, Anemia, Leukopenia ORPHA:505248
Gaucher Disease Type 3
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:77261
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... OMIM:105650
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Hepatosplenom... ORPHA:3260
Primary Hyperoxaluria Type 1
Abnormality of circulating enzyme level, Calcinosis, Hyperoxaluria ORPHA:93598
Lysinuric Protein Intolerance
Hemophagocytosis, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia OMIM:222700
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytopenia, Anisocytosis, Leukope... ORPHA:79277
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Tangier Disease
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:31150
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:263700
Dubowitz Syndrome
Thrombocytopenia, Acute lymphoblastic leukemia, Anemia, Abnormality of neutrophils ORPHA:235
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Thrombocytopenia, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:274000
Castleman Disease
Thrombocytopenia, Decreased mean corpuscular volume, Anemia ORPHA:160
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Thrombocytopenia, Decreased hemoglobin concentration OMIM:619005
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia OMIM:612199
Q Fever
Thrombocytopenia, Hepatosplenomegaly, Anemia, Splenomegaly ORPHA:781
Neuroleptic Malignant Syndrome
Thrombocytopenia, Thrombocytosis, Leukocytosis ORPHA:94093
Tick-Borne Encephalitis
Thrombocytopenia, Leukopenia, Leukocytosis ORPHA:297
Stevens-Johnson Syndrome
Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:36426
Toxic Epidermal Necrolysis
Thrombocytopenia, Neutropenia, Anemia ORPHA:537
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Thrombocytopenia, Neutropenia, Megaloblastic anemia ORPHA:79282
Nijmegen Breakage Syndrome
Thrombocytopenia, Hemolytic anemia, Acute leukemia, Autoimmune hemolytic anemia ORPHA:647
Caroli Syndrome
Thrombocytopenia, Hypersplenism, Leukopenia, Leukocytosis ORPHA:480520
Pearson Syndrome
Reticulocytosis, Neutropenia, Thrombocytopenia, Pancytopenia, Anemia, Splenomegaly, Hypoplastic s... ORPHA:699
Dyskeratosis Congenita
Thrombocytopenia, Abnormality of neutrophils, Anemia, Splenomegaly ORPHA:1775
Insulin-Resistance Syndrome Type B
Thrombocytopenia, Leukopenia ORPHA:2298
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Anemia ORPHA:163979
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Deeah Syndrome
Thrombocytopenia, Decreased hemoglobin concentration OMIM:619004
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Hepatocellular Carcinoma
Thrombocytopenia, Polycythemia, Thrombocytosis, Anemia ORPHA:88673
Dyskeratosis Congenita, X-Linked
Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Leukopenia OMIM:305000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly ORPHA:2072
Fanconi Anemia
Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblastic anemia, Leukopenia ORPHA:84
Primary Sjögren Syndrome
Decreased proportion of CD4-positive helper T cells, Lymphopenia, Normocytic anemia, Thrombocytop... ORPHA:289390
Brucellosis
Thrombocytosis, Leukocytosis, Thrombocytopenia, Splenomegaly, Anemia, Hypersplenism, Leukopenia ORPHA:1304
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Gaucher Disease
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:355
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Kikuchi-Fujimoto Disease
Lymphocytosis, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia ORPHA:50918
Infection-Related Hemolytic Uremic Syndrome
Thrombocytopenia, Hemolytic anemia, Leukocytosis ORPHA:544482
22Q11.2 Deletion Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Hypoplasia of the thymus, Splenomegaly ORPHA:567
Lysinuric Protein Intolerance
Hemophagocytosis, Thrombocytopenia, Anemia, Leukopenia, Hepatosplenomegaly ORPHA:470
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia ORPHA:464321
Oculocerebrorenal Syndrome Of Lowe
Thrombocytopenia, Anemia ORPHA:534
Niemann-Pick Disease Type B
Autoimmune thrombocytopenia, Acute promyelocytic leukemia, Thrombocytopenia, Hypersplenism, Splen... ORPHA:77293
Autosomal Recessive Polycystic Kidney Disease
Thrombocytopenia, Hepatosplenomegaly, Hypersplenism, Splenomegaly ORPHA:731
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Proteasome-Associated Autoinflammatory Syndrome 1
Thrombocytopenia, Splenomegaly, Microcytic anemia OMIM:256040
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia ORPHA:51
Sarcoidosis
Hemolytic anemia, Increased T cell count, Thrombocytopenia, Anemia, Leukopenia, Eosinophilia ORPHA:797
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Acute Liver Failure
Thrombocytopenia ORPHA:90062
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia OMIM:163950
Leptospirosis
Thrombocytopenia ORPHA:509

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 Ofcc1

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 Ofcc1.

No publications found that use IMPC mice or data for Ofcc1.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Ofcc1tm237959(L1L2_Bact_P) Targeting vectors
Ofcc1em1(IMPC)J Exon Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter