Gene Summary

Name:
phospholipid scramblase 1
Synonyms:
TRA1,  MmTRA1a,  NOR1,  MmTRA1b,  Tras1,  MuPLSCR2,  Tras2

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
abnormal retina outer nuclear layer morphology Plscr1tm1b(EUCOMM)Hmgu HOM Early adult 2.28×10-08
decreased total retina thickness Plscr1tm1b(EUCOMM)Hmgu HOM Early adult 8.16×10-14
shortened QRS complex duration Plscr1tm1b(EUCOMM)Hmgu HOM Early adult 4.37×10-05
increased startle reflex Plscr1tm1b(EUCOMM)Hmgu HOM Early adult 6.02×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

Echo

M-Mode Images

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Plscr1 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 Plscr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Immunodeficiency 88
Eosinophilia OMIM:619630
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Refractory Anemia
Bone marrow hypocellularity, Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia OMIM:266130
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
3-Methylglutaconic Aciduria, Type Viib
Neutropenia OMIM:616271
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Acute lymphoblastic leukemia OMIM:610738
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Slc35A1-Cdg
Cellulitis, Giant platelets, Abnormal platelet granules, Neutropenia, Thrombocytopenia ORPHA:238459
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:617243
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Eosinophilic Fasciitis
Fasciitis, Cellulitis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Wells Syndrome
Cellulitis, Eosinophilia ORPHA:901
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Immunodeficiency 55
Neutropenia OMIM:617827
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Whim Syndrome 1
Neutropenia OMIM:193670
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Enamel hypoplasia ORPHA:2643
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Cellulitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil ... OMIM:618986
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia OMIM:604250
Nathalie Syndrome
Abnormal EKG OMIM:255990
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic an... ORPHA:486
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Enamel hypoplasia OMIM:251190
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Specific Granule Deficiency 2
Amelogenesis imperfecta, Neutropenia, Anemia, Absent neutrophil specific granules, Thrombocytopenia OMIM:617475
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... OMIM:619705
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Halothane Hepatitis
Eosinophilia OMIM:234350
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Lichtenstein Syndrome
Neutropenia, Enamel hypoplasia OMIM:246550
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Barth Syndrome
Neutropenia, Granulocytopenia OMIM:302060
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Aplastic anemia, Lymphocytosis, Thromb... OMIM:308240
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Retinal Venous Beading
Neutropenia OMIM:180080
Diamond-Blackfan Anemia 11
Neutropenia, Anemia, Anemia of inadequate production, Bone marrow hypocellularity OMIM:614900
Kimura Disease
Eosinophilia ORPHA:482
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Cyclic Neutropenia
Cellulitis, Decreased eosinophil count, Thrombocytopenia, Tooth abscess, Cyclic neutropenia, Peri... ORPHA:2686
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Anemia, Thrombocytopenia ORPHA:289916
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Anemia, Neutropenia, Thrombocytopenia OMIM:614857
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Anemia, Thrombocytopenia, Splenomegaly ORPHA:79312
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Neutropenia, Anemia, Umbilical hernia, Thrombocytopenia OMIM:614520
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Griscelli Syndrome Type 2
Pancytopenia, Neutropenia, Splenomegaly, Hemophagocytosis ORPHA:79477
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Flexion contracture OMIM:253600
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia OMIM:212050
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Increase... ORPHA:98850
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Macrothrombocytopenia OMIM:603585
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Felty Syndrome
Cellulitis, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Neutropeni... ORPHA:47612
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia OMIM:246400
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Cellulitis, Neutrophilia OMIM:266265
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
X-Linked Agammaglobulinemia
Cellulitis, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation ORPHA:47
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune ... ORPHA:572
Onychotrichodysplasia And Neutropenia
Neutropenia, Chronic neutropenia, Lymphocytosis OMIM:258360
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Autosomal Agammaglobulinemia
Neutropenia, Cellulitis ORPHA:33110
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Abnormal EKG, Abnormal atriovent... ORPHA:85451
Neonatal Lupus Erythematosus
Pancytopenia, Splenomegaly, Neutropenia, Anemia, Hemolytic anemia, Aplastic anemia, Thrombocytopenia ORPHA:398124
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Panniculitis, B l... ORPHA:508542
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Transcobalamin Ii Deficiency
Pancytopenia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:275350
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia of the thymus... OMIM:612541
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Bone m... ORPHA:443811
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Impai... OMIM:214500
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia OMIM:608809
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Joint contracture of the hand OMIM:618523
Schimke Immunoosseous Dysplasia
Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cell morphology OMIM:242900
Propionic Acidemia
Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:606054
Immunodeficiency 49
Eosinophilia, Umbilical hernia, Lymphopenia OMIM:617237
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hypoplasia of th... OMIM:603554
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Leukocytosis, Neutrophilia, Panniculitis, Increased proportion of CD4-positive T c... OMIM:617099
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Cohen Syndrome
Neutropenia, Leukopenia OMIM:216550
Methylcobalamin Deficiency Type Cble
Pancytopenia, Increased mean corpuscular volume, Neutropenia, Macrocytic anemia ORPHA:2169
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Cartilage-Hair Hypoplasia
Congenital hypoplastic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutro... OMIM:250250
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:277380
Trichothiodystrophy 3, Photosensitive
Neutropenia, Lymphopenia OMIM:616395
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Flexion contracture, Bone marrow hypocellularity, Splenomegaly, Neutropenia, Anemia, ... OMIM:617303
Immunodeficiency 23
Eosinophilia, Abscess, Neutropenia, Hemolytic anemia, Lymphopenia OMIM:615816
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Fusariosis
Cellulitis, Lung abscess, Neutropenia, Granuloma, Panniculitis, Abnormality of the spleen, Fascii... ORPHA:228119
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Prolonged QT interval, No... OMIM:610198
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, An... ORPHA:158048
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia, Bone marrow hypocellularity ORPHA:445038
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Thrombocytopenia ORPHA:391673
Cinca Syndrome
Anemia, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, B lymphocytopenia, Rectal abscess OMIM:601495
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Fanconi Anemia, Complementation Group C
Pancytopenia, Flexion contracture, Leukemia, Bone marrow hypocellularity, Neutropenia, Anemia, Re... OMIM:227645
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Fanconi Anemia, Complementation Group I
Neutropenia, Bone marrow hypocellularity OMIM:609053
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:308230
Fanconi Anemia, Complementation Group E
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:600901
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Bare Lymphocyte Syndrome, Type Ii
Neutropenia OMIM:209920
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly OMIM:617050
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Bone marrow hypocellularity, Impaired neut... ORPHA:811
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Neutropenia, Anemia, Lymph... ORPHA:1830
Diamond-Blackfan Anemia 7
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612562
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:227650
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia, Flexion contracture OMIM:618005
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent platelet dense granules, Splenomegaly, Neutro... OMIM:608233
Atrial Septal Defect, Ostium Primum Type
Prolonged PR interval, Atrial flutter, Systolic heart murmur, Congestive heart failure, Abnormall... ORPHA:99106
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Aortic regurgitation, Arrhythmia, Congestive heart failur... ORPHA:75566
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Whim Syndrome
Neutropenia, Cellulitis, Abnormality of neutrophil morphology, Lymphopenia ORPHA:51636
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Kasabach-Merritt Syndrome
Leukopenia, Neutropenia, Anemia, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytop... ORPHA:2330
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Megaloblastic anemia ORPHA:79284
Shwachman-Diamond Syndrome 2
Neutropenia, Thrombocytopenia, Normocytic anemia OMIM:617941
Poikiloderma With Neutropenia
Neutropenia, Leukopenia, Splenomegaly OMIM:604173
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Cardiomyopathy OMIM:310200
Friedreich Ataxia
Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Hypertrophic cardiomyopathy, Opt... OMIM:229300
Wolcott-Rallison Syndrome
Neutropenia, Iron deficiency anemia, Lymphocytosis ORPHA:1667
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Neutrophilia, Brain abscess, Liver abscess ORPHA:54251
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... ORPHA:99103
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T cells, Lymphopenia ORPHA:169160
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Hip contracture ORPHA:353298
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Roifman Syndrome
Eosinophilia, Splenomegaly, Hip contracture OMIM:616651
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:615952
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
Chédiak-Higashi Syndrome
Pancytopenia, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocytosis, Splenomegaly, Increas... ORPHA:167
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal eosinophil morphology, Neutropenia, Anemia, Hemolyt... ORPHA:906
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Optic atrophy, Exaggerated startle response ORPHA:320406
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Neutrope... OMIM:557000
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Eosinophilia ORPHA:2070
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Autoimmune thrombocytopenia, Lymphopenia, T lymphocytopenia OMIM:607944
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Congenital Sialidosis Type 2
Cherry red spot of the macula, Hypoplasia of the fovea, Abnormal EKG, Yellow/white lesions of the... ORPHA:93400
Trichothiodystrophy
Multiple joint contractures, Enamel hypoplasia, Increased mean corpuscular hemoglobin concentrati... ORPHA:33364
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Anemia ORPHA:39041
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:277400
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Thrombocytopenia OMIM:619644
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Fanconi Anemia, Complementation Group D2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thro... OMIM:227646
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Dystonia, Exaggerated startle response ORPHA:309246
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Autoimmune hemol... ORPHA:37042
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absen... ORPHA:911
Agammaglobulinemia, X-Linked
Neutropenia, Anemia, T lymphocytopenia, B lymphocytopenia OMIM:300755
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Thrombocytopenia ORPHA:91547
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Bone marrow hypocellularity, Coombs-positive hemolytic anemia, Autoimmune hemolytic... ORPHA:3261
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Neutropenia, Anemia, Acute myeloid leukemia OMIM:601347
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Arrhythmia, Abnormal EKG, Prolonged QT interval, Optic atrophy ORPHA:480864
Leigh Syndrome
Neutropenia, Anemia, Multiple joint contractures ORPHA:506
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Rothmund-Thomson Syndrome
Leukemia, Neutropenia, Anemia, Abnormal dental enamel morphology, Aplastic anemia ORPHA:2909
Glycogen Storage Disease Ib
Neutropenia OMIM:232220
Cirrhotic Cardiomyopathy
Increased circulating troponin I concentration, Left ventricular diastolic dysfunction, Elevated ... ORPHA:57777
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Hermansky-Pudlak Syndrome
Neutropenia, Abnormal dental enamel morphology ORPHA:79430
Adult-Onset Still Disease
Leukocytosis, Neutrophilia, Splenomegaly, Bone marrow hypocellularity ORPHA:829
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Rothmund-Thomson Syndrome Type 1
Leukemia, Neutropenia, Anemia, Abnormal dental enamel morphology, Aplastic anemia ORPHA:221008
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Cohen Syndrome
Neutropenia ORPHA:193
Selective Igm Deficiency
Cellulitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T ... ORPHA:331235
Toxic Epidermal Necrolysis
Neutropenia, Anemia, Thrombocytopenia ORPHA:537
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Ischemic stroke, Myocardial... ORPHA:90065
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Sweet Syndrome
Sterile abscess, Leukocytosis, Neutrophilia, Acute myeloid leukemia, Anemia, Panniculitis, Chroni... ORPHA:3243
Al Amyloidosis
Increased circulating troponin I concentration, Gastrointestinal hemorrhage, Arrhythmia, Jaw clau... ORPHA:85443
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Camptodac... ORPHA:228426
Rothmund-Thomson Syndrome Type 2
Leukemia, Neutropenia, Anemia, Abnormal dental enamel morphology, Aplastic anemia ORPHA:221016
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Hypotension, Limb dystonia, Limb tremor, Exaggerated... OMIM:608643
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Stiff-Person Syndrome
Tachycardia, Opisthotonus, Hypertension, Exaggerated startle response OMIM:184850
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutr... OMIM:105650
Netherton Syndrome
Hypereosinophilia OMIM:256500
Rett Syndrome
Abnormal T-wave, Dystonia, Prolonged QTc interval OMIM:312750
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormality of blood circulation, Heart murmur, Left ventricular outflo... ORPHA:860
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Autosomal Dominant Hyper-Ige Syndrome
Cellulitis, Eosinophilia ORPHA:2314
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Megaloblastic anemia, Thrombocytopenia ORPHA:79282
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Chronic neutropenia, Camptodactyly, Transient neutropenia ORPHA:500095
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypertension, Palpitations, Intracranial hemorrhage, Epistaxis ORPHA:231625
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Neutrophilia, Leukopenia ORPHA:36238
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Cartilage-Hair Hypoplasia
Neutropenia, Anemia ORPHA:175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Retinal detachment, Retinal dysplasia, Pulmonic stenosis, Exaggerated sta... OMIM:253800
X-Linked Intellectual Disability, Nascimento Type
Neutropenia, Recurrent cutaneous abscess formation ORPHA:163956
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Bone marrow hypocellularity, Splenomegaly, Neutropenia, Anemia,... ORPHA:699
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Dermatomyositis
Cellulitis, Chondrocalcinosis, Abnormal eosinophil morphology ORPHA:221
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Neutropenia, Anemia, Lymphocytosis, Thrombocytopenia ORPHA:50918
Zygomycosis
Cellulitis, Neutropenia, Fasciitis, Splenic abscess, Brain abscess ORPHA:73263
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Abscess OMIM:612852
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Cystic Echinococcosis
Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst ORPHA:400
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block ORPHA:268
Aspartylglucosaminuria
Neutropenia, Vacuolated lymphocytes, Hernia OMIM:208400
Scorpion Envenomation
Increased circulating troponin I concentration, Premature ventricular contraction, Arrhythmia, Co... ORPHA:466677
Dopamine Beta-Hydroxylase Deficiency
Syncope, Abnormal EKG, Orthostatic hypotension, Orthostatic syncope ORPHA:230
Sandhoff Disease
Cherry red spot of the macula, Orthostatic hypotension, Exaggerated startle response OMIM:268800
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Abnormal myeloid leukocyte morphology, Anemia ORPHA:79259
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Supraventricular ar... ORPHA:90068
Cardiac Diverticulum
Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Premature ventricular contraction,... ORPHA:1686
Chronic Thromboembolic Pulmonary Hypertension
Abnormal T-wave, Abnormal left ventricular function, Congestive heart failure, Pulmonary embolism... ORPHA:70591
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Bidirectional ventricular ectopy, Prolonged QT interval, Syncope, Prominent U wave OMIM:170390
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in pres... ORPHA:391487
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Absence Of The Pulmonary Artery
Atrial flutter, Reduced ejection fraction, Systolic heart murmur, Congestive heart failure, Abnor... ORPHA:980
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Cherry red spot of the macula, Dystonia, Laryngeal dystonia, Exaggerated startle response, Optic ... ORPHA:845
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Incontinentia Pigmenti
Scarring, Eosinophilia, Leukocytosis OMIM:308300
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Leukocytosis, Neutrophilia, Anemia, Scarring, Umbilical hernia ORPHA:99843
Cushing Disease
Leukocytosis, Lymphopenia, Dorsocervical fat pad, Decreased eosinophil count ORPHA:96253
Alveolar Echinococcosis
Eosinophilia, Cutaneous abscess, Abnormal spleen morphology, Anemia, Liver abscess ORPHA:284
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Neutrophilia, Splenomegaly OMIM:260920
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Dystonia, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy, Tremor ORPHA:2131
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Macrocytic anemia ORPHA:199299
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Cardiomyopathy, Exaggerated startle response ORPHA:79255
Friedreich Ataxia And Congenital Glaucoma
Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Hypertrophic cardiomyopathy, Con... OMIM:229310
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decrea... ORPHA:508533
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Neutropenia, Anemia, Atypical scarring of skin ORPHA:95455
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Optic atrophy, Exaggerated startle response ORPHA:521426
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Ventricular fibrillation, Palpitations, Prolonged QT inte... ORPHA:358
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Abnormal EKG, Congestive heart f... OMIM:601992
Familial Mediterranean Fever
Leukocytosis, Neutrophilia, Splenomegaly OMIM:249100
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Neut... ORPHA:3260
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
African Trypanosomiasis
Optic neuritis, Second degree atrioventricular block, Arrhythmia, Congestive heart failure, Abnor... ORPHA:3385
Incontinentia Pigmenti
Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Eosinophilia ORPHA:464
Sponastrime Dysplasia
Neutropenia ORPHA:93357
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Coccidioidomycosis
Eosinophilia, Atypical scarring of skin, Granuloma, Panniculitis, Abnormality of the spleen, Abscess ORPHA:228123
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Anemia, Thrombocytopenia OMIM:274000
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Hypotension, Prolonged QT interval, ... ORPHA:466650
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Abnormal EKG, Congestive heart f... OMIM:302900
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Lymphopenia, Dorsocervical fat pad, Decreased eosinophil count ORPHA:99889
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Woodhouse-Sakati Syndrome
Abnormal T-wave, Dystonia OMIM:241080
Sarcoidosis
Eosinophilia, Leukopenia, Increased T cell count, Anemia, Hemolytic anemia, Scarring, Thrombocyto... ORPHA:797
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Neutrophilia, Splenomegaly, Thrombocytopenia ORPHA:99827
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Woodhouse-Sakati Syndrome
Abnormal T-wave, Dystonia ORPHA:3464
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Igg4-Related Kidney Disease
Eosinophilia ORPHA:449395
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Prolonged PR interval, Atrial fibr... ORPHA:273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Dystonia, Pulmonic stenosis, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response 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 Plscr1

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 Plscr1.

No publications found that use IMPC mice or data for Plscr1.

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MGI Allele Allele Type Produced
Plscr1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Plscr1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Plscr1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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