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Gene: Hnrnph1 MGI:1891925

Gene Summary

Name:

heterogeneous nuclear ribonucleoprotein H1

Synonyms:

Hnrph1, E430005G16Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased lymphocyte cell number	Hnrnph1^{tm1b(KOMP)Wtsi}	HET	Early adult	2.60×10^-07
preweaning lethality, complete penetrance	Hnrnph1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased mean platelet volume	Hnrnph1^{tm1b(KOMP)Wtsi}	HET	Early adult	2.74×10^-05
increased mean corpuscular volume	Hnrnph1^{tm1b(KOMP)Wtsi}	HET	Early adult	6.16×10^-26
decreased mean corpuscular hemoglobin concentration	Hnrnph1^{tm1b(KOMP)Wtsi}	HET	Early adult	1.08×10^-18
decreased neutrophil cell number	Hnrnph1^{tm1b(KOMP)Wtsi}	HET	Early adult	8.04×10^-06

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hnrnph1 mutations

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

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

Human diseases associated with Hnrnph1 (0 diseases)
Human diseases predicted to be associated with Hnrnph1 (372 diseases)

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

The table below shows human diseases predicted to be associated to Hnrnph1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye...	OMIM:619041
Bleeding Disorder, Platelet-Type, 15	Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis	OMIM:615193
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane...	OMIM:187800
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia	OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Bleeding Disorder, Platelet-Type, 24	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619271
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Anemia, Erythroid hypoplasia	OMIM:618312
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia	OMIM:261000
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia	OMIM:615285
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia	OMIM:618849
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Agammaglobulinemia 7, Autosomal Recessive	Neutropenia	OMIM:615214
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi...	OMIM:155100
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m...	OMIM:616689
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Immunodeficiency 40	Lymphopenia	OMIM:616433
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis	ORPHA:90044
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Splenomegaly	ORPHA:46532
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Fechtner syndrome	Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets	OMIM:153640
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia	OMIM:615234
Myh9-Related Disease	Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p...	ORPHA:182050
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ...	OMIM:231200
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop...	OMIM:614470
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia	OMIM:613501
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia	OMIM:124900
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem...	ORPHA:3202
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Cyanosis, Transient Neonatal	Methemoglobinemia, Reticulocytosis, Anemia	OMIM:613977
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia	OMIM:229050
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Transcobalamin Deficiency	Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia	ORPHA:859
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri...	OMIM:245480
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor...	ORPHA:98870
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly	OMIM:153670
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	OMIM:603552
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Storage Pool Platelet Disease	Acute leukemia, Decreased mean platelet volume	OMIM:185050
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ...	OMIM:169400
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia	OMIM:598500
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ...	OMIM:210250
Thrombocytopenia 7	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619130
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Majeed Syndrome	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti...	OMIM:609628
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Neutropenia	OMIM:613502
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A...	OMIM:616860
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Agammaglobulinemia 10, Autosomal Dominant	Absent circulating B cells, Transient neutropenia	OMIM:619707
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Methylcobalamin Deficiency Type Cble	Pancytopenia, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	ORPHA:2169
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Lymphopenia, Neutropenia	ORPHA:2688
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	OMIM:619220
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval...	ORPHA:35858
Whim Syndrome 1	Neutropenia	OMIM:193670
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp...	ORPHA:169154
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia...	ORPHA:86839
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis	OMIM:603529
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612562
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis	OMIM:611590
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ...	ORPHA:158057
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb...	OMIM:308240
3-Methylglutaconic Aciduria, Type Viia	Anemia, Anisopoikilocytosis, Neutropenia	OMIM:619835
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Anemia, Neutropenia	OMIM:614900
Specific Granule Deficiency 2	Thrombocytopenia, Anemia, Absent neutrophil specific granules, Neutropenia	OMIM:617475
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Neutropenia	OMIM:251900
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport...	ORPHA:101096
Shwachman-Diamond Syndrome	Increased mean corpuscular volume, Neutropenia, Leukopenia, Aplastic anemia, Normocytic anemia, I...	ORPHA:811
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot...	ORPHA:274
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo...	OMIM:301078
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Anemia, Neutropenia, Splenomegaly	ORPHA:79312
Immunodeficiency 102	Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha...	OMIM:301082
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal...	OMIM:618986
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia	OMIM:616959
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia	OMIM:246400
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg...	OMIM:601859
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope...	OMIM:619705
Blackfan-Diamond Anemia	Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi...	ORPHA:124
Aggressive Systemic Mastocytosis	Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I...	ORPHA:98850
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Thrombocytopenia 1	Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume	OMIM:313900
Retinal Venous Beading	Neutropenia	OMIM:180080
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe...	ORPHA:300298
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,...	OMIM:304790
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani...	OMIM:613673
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	OMIM:251190
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Autosomal Dominant Severe Congenital Neutropenia	Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni...	ORPHA:486
Beta-Thalassemia	Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia	ORPHA:848
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Neutropenia	OMIM:600351
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Neonatal Lupus Erythematosus	Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia	ORPHA:398124
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia	ORPHA:79477
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia	OMIM:223350
Transcobalamin Ii Deficiency	Neutropenia, Macrocytic anemia, Reticulocytopenia, Pancytopenia	OMIM:275350
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc...	ORPHA:158061
Immunodeficiency By Defective Expression Of Mhc Class Ii	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope...	ORPHA:572
Beta-Thalassemia Intermedia	Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E...	ORPHA:231222
Immunodeficiency 97 With Autoinflammation	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly...	OMIM:619802
Bleeding Disorder, Platelet-Type, 17	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Thrombocytopenia	OMIM:616737
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Congenital Enterovirus Infection	Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia	ORPHA:292
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia	OMIM:619752
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg...	OMIM:603909
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Neutropenia	OMIM:614857
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia	OMIM:141700
Chediak-Higashi Syndrome	Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric...	OMIM:214500
Lathosterolosis	Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increased mean platelet ...	OMIM:607330
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Anemia, Neutropenia, Pancytopenia	OMIM:251110
Acute Promyelocytic Leukemia	Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia	ORPHA:520
Acute Monoblastic/Monocytic Leukemia	Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia	ORPHA:514
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Wiskott-Aldrich Syndrome, Autosomal Dominant	Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla...	OMIM:600903
Felty Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Anemia, Thrombocytopenia	ORPHA:47612
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ...	OMIM:607594
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A...	ORPHA:158048
Propionic Acidemia	Thrombocytopenia, Anemia, Neutropenia, Pancytopenia	OMIM:606054
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Neutropenia	ORPHA:47
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Anemia, Neutropenia, Pancytopenia	OMIM:251100
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Thrombocytosis	ORPHA:84064
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti...	OMIM:601775
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Pgm3-Cdg	Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese...	ORPHA:443811
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pancytopenia	OMIM:277380
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l...	OMIM:260400
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:508542
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers...	ORPHA:231226
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Thrombocytosis, Splenomegaly	OMIM:222470
Immunodeficiency 55	Neutropenia, Lymphopenia, Absent natural killer cells	OMIM:617827
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ...	ORPHA:231214
Immunodeficiency 92	Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi...	OMIM:619652
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Impaired AD...	OMIM:608233
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, B lymphocytopenia, Neutropenia	OMIM:301081
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis	OMIM:266140
Wiskott-Aldrich Syndrome	Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr...	OMIM:301000
Kasabach-Merritt Syndrome	Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop...	ORPHA:2330
Fanconi Anemia, Complementation Group E	Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia	OMIM:600901
Necrotizing Enterocolitis	Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Schimke Immunoosseous Dysplasia	Lymphopenia, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Abnormal T cell morphology	OMIM:242900
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	ORPHA:540
Cartilage-Hair Hypoplasia	Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation...	OMIM:250250
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Neutropenia	OMIM:608809
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem...	OMIM:618278
Acute Panmyelosis With Myelofibrosis	Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Acute myeloid leukemia	ORPHA:86843
Fanconi Anemia, Complementation Group A	Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia	OMIM:227650
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Thrombocytopenia	ORPHA:487796
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,...	OMIM:612541
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope...	ORPHA:3226
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells,...	ORPHA:1830
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia	OMIM:616395
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased proportion of class-switc...	OMIM:614700
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Wolcott-Rallison Syndrome	Neutropenia, Lymphocytosis, Iron deficiency anemia	ORPHA:1667
Immunodeficiency 23	Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia	OMIM:615816
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Brain abscess, Neutrophilia	ORPHA:54251
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia	OMIM:617303
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Refractory sideroblastic anemia, Pancytope...	OMIM:557000
Shwachman-Diamond Syndrome 2	Thrombocytopenia, Normocytic anemia, Neutropenia	OMIM:617941
Fanconi Anemia, Complementation Group C	Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia	OMIM:227645
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Neutropenia	ORPHA:79284
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:308230
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio...	ORPHA:911
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	ORPHA:90051
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, B lymphocytopenia, Neutropenia	OMIM:601495
Wiskott-Aldrich Syndrome	Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function...	ORPHA:906
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal...	ORPHA:167
3-Methylglutaconic Aciduria Type 7	Infection associated neutropenia, Neutropenia	ORPHA:445038
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm...	OMIM:613179
Relapsing Fever	Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia	ORPHA:91547
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibo...	OMIM:615952
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor...	ORPHA:98849
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Bare Lymphocyte Syndrome, Type Ii	Neutropenia	OMIM:209920
Fanconi Anemia, Complementation Group I	Neutropenia	OMIM:609053
Hermansky-Pudlak Syndrome 10	Neutropenia, Splenomegaly	OMIM:617050
Castleman Disease	Decreased mean corpuscular volume, Anemia, Thrombocytopenia	ORPHA:160
Poikiloderma With Neutropenia	Leukopenia, Neutropenia, Splenomegaly	OMIM:604173
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:277400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Autoimmune thrombocytopenia, ...	ORPHA:37042
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia	OMIM:619644
Spondyloenchondrodysplasia With Immune Dysregulation	Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia	OMIM:607944
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Neutropenia	OMIM:615471
Agammaglobulinemia, X-Linked	Anemia, Neutropenia, B lymphocytopenia, T lymphocytopenia	OMIM:300755
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Fusariosis	Lymphopenia, Abnormality of the spleen, Brain abscess, Neutropenia, Granuloma, Lung abscess	ORPHA:228119
Fanconi Anemia, Complementation Group D2	Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia	OMIM:227646
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay	Anemia, Acute myeloid leukemia, Neutropenia	OMIM:601347
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c...	OMIM:301074
Eisenmenger Syndrome	Increased mean corpuscular volume, Brain abscess, Hypochromic microcytic anemia, Iron deficiency ...	ORPHA:97214
Whim Syndrome	Lymphopenia, Abnormality of neutrophil morphology, Neutropenia	ORPHA:51636
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia	OMIM:618005
Diamond-Blackfan Anemia 1	Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ...	OMIM:105650
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph...	ORPHA:3261
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Leigh Syndrome	Anemia, Neutropenia	ORPHA:506
X-Linked Lymphoproliferative Disease	Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia...	ORPHA:2442
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Neutrophilia, Leukocytosis	OMIM:617099
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Kikuchi-Fujimoto Disease	Lymphocytosis, Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia	ORPHA:50918
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Trichothiodystrophy	Anemia, Increased mean corpuscular hemoglobin concentration, Neutropenia	ORPHA:33364
Rothmund-Thomson Syndrome	Anemia, Leukemia, Aplastic anemia, Neutropenia	ORPHA:2909
Thymoma	Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia	ORPHA:99867
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Thrombocytopenia, Neutropenia	ORPHA:79282
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:141750
Cohen Syndrome	Neutropenia	ORPHA:193
Rothmund-Thomson Syndrome Type 1	Anemia, Leukemia, Aplastic anemia, Neutropenia	ORPHA:221008
Pediatric-Onset Graves Disease	Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly	ORPHA:525731
Adult-Onset Still Disease	Neutrophilia, Leukocytosis, Splenomegaly	ORPHA:829
Hermansky-Pudlak Syndrome	Abnormality of thrombocytes, Neutropenia	ORPHA:79430
Glycogen Storage Disease Ib	Neutropenia, Splenomegaly	OMIM:232220
Cartilage-Hair Hypoplasia	Anemia, Neutropenia	ORPHA:175
Rothmund-Thomson Syndrome Type 2	Anemia, Leukemia, Aplastic anemia, Neutropenia	ORPHA:221016
Pearson Syndrome	Neutropenia, Splenomegaly, Reticulocytosis, Hypoplastic spleen, Pancytopenia, Anemia, Thrombocyto...	ORPHA:699
Staphylococcal Necrotizing Pneumonia	Leukopenia, Neutrophilia, Leukocytosis	ORPHA:36238
Sweet Syndrome	Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le...	ORPHA:3243
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Selective Igm Deficiency	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell...	ORPHA:331235
Lead Poisoning	Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis	ORPHA:330015
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Pancytop...	ORPHA:228426
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune...	ORPHA:391487
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Anemia, Chronic neutropenia, Abnormal myeloid leukocyte morphology	ORPHA:79259
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Abscess, Neutrophilia, Splenomegaly	OMIM:612852
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Chronic neutropenia, Transient neutropenia	ORPHA:500095
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:301040
Zygomycosis	Splenic abscess, Brain abscess, Neutropenia	ORPHA:73263
Hyper-Igd Syndrome	Hepatosplenomegaly, Neutrophilia, Leukocytosis, Splenomegaly	OMIM:260920
Leukocyte Adhesion Deficiency Type Ii	Anemia, Microcytic anemia, Neutrophilia, Leukocytosis	ORPHA:99843
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno...	ORPHA:3260
Aspartylglucosaminuria	Vacuolated lymphocytes, Neutropenia	OMIM:208400
Familial Mediterranean Fever	Neutrophilia, Leukocytosis, Splenomegaly	OMIM:249100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455
Sponastrime Dysplasia	Neutropenia	ORPHA:93357
Liver Disease, Severe Congenital	Lymphocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia	OMIM:619991
Crimean-Congo Hemorrhagic Fever	Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Pancytopenia, Thrombocytopenia	ORPHA:99827
Yellow Fever	Thrombocytopenia, Neutrophilia, Leukocytosis	ORPHA:99829

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 Hnrnph1

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 Hnrnph1.

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

Title	Journal	IMPC Allele	PubMed ID
Dynamic changes in RNA-protein interactions and RNA secondary structure in mammalian erythropoiesis.	Life science alliance (July 2021)	Hnrnph1^{tm1b(KOMP)Wtsi}	PMC8321672

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MGI Allele	Allele Type	Produced
Hnrnph1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Hnrnph1^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Hnrnph1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Hnrnph1^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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