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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
decreased neutrophil cell number	Hnrnph1^{tm1b(KOMP)Wtsi}	HET	Early adult	8.04×10^-06
preweaning lethality, complete penetrance	Hnrnph1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
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
increased mean platelet volume	Hnrnph1^{tm1b(KOMP)Wtsi}	HET	Early adult	2.74×10^-05
increased lymphocyte cell number	Hnrnph1^{tm1b(KOMP)Wtsi}	HET	Early adult	2.60×10^-07

Download data as: TSV XLS

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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.

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 (1 diseases)
Human diseases predicted to be associated with Hnrnph1 (371 diseases)

The table below shows human diseases associated to Hnrnph1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects			OMIM:620083

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

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume	OMIM:252270
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:615193
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Bleeding Disorder, Platelet-Type, 16	Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ...	OMIM:187800
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia	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 arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619271
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Anemia, Steroid-responsive anemia	OMIM:618312
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc...	OMIM:202700
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia	OMIM:618849
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Delta-Beta-Thalassemia	Anemia, Abnormal hemoglobin, Microcytic anemia	ORPHA:231237
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo...	OMIM:261000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu...	OMIM:155100
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Bone Marrow Failure And Diabetes Mellitus Syndrome	T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume	OMIM:620044
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic...	OMIM:616689
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency 110 With Lymphoproliferation	Neutropenia, Lymphopenia	OMIM:614868
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia	OMIM:206100
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets	ORPHA:238459
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Refractory Anemia	Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia...	ORPHA:98826
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo...	ORPHA:232
Familial Pseudohyperkalemia	Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume	ORPHA:90044
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:615285
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia...	OMIM:300946
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:300448
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa...	OMIM:617443
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
X-Linked Severe Congenital Neutropenia	Neutropenia, Monocytopenia	ORPHA:86788
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Myh9-Related Disease	Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p...	ORPHA:182050
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he...	ORPHA:3203
Bernard-Soulier Syndrome	Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ...	OMIM:231200
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia	OMIM:612527
Bleeding Disorder, Platelet-Type, 19	Anemia, Thrombocytopenia, Macrothrombocytopenia	OMIM:616176
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Thrombocytopenia, Abnormal hemoglobin	ORPHA:3319
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt...	ORPHA:75564
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T...	OMIM:300835
Glutathione Synthetase Deficiency	Neutropenia, Hemolytic anemia	OMIM:266130
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Elliptocytosis 3	Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis	OMIM:617948
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro...	ORPHA:67044
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	OMIM:614172
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a...	OMIM:159550
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Cyanosis, Transient Neonatal	Methemoglobinemia, Anemia, Reticulocytosis	OMIM:613977
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem...	OMIM:153670
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi...	ORPHA:3202
Eosinophilia, Familial	Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia	OMIM:131400
Transcobalamin Deficiency	Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia	ORPHA:859
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Specific Granule Deficiency 1	Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac...	OMIM:245480
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Neutropenia, Absent circulating B cells	OMIM:613501
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular...	ORPHA:98870
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:603552
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia	OMIM:229050
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope...	OMIM:169400
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia	OMIM:598500
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia	OMIM:613839
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Neutropenia, Acute lymphoblastic leukemia	OMIM:610738
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega...	OMIM:150550
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Thrombocytopenia 7	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619130
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:846
Sitosterolemia 1	Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia...	OMIM:210250
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi...	OMIM:616860
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Neutropenia	OMIM:613502
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal...	OMIM:612690
Majeed Syndrome	Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat...	OMIM:609628
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Hemochromatosis, Type 3	Anemia, Neutropenia, Lymphopenia	OMIM:604250
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Splenomegaly	OMIM:615234
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia	ORPHA:2688
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Idiopathic Aplastic Anemia	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:88
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia	ORPHA:2169
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune hemoly...	OMIM:619220
Whim Syndrome 1	Neutropenia	OMIM:193670
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport...	ORPHA:169154
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal mean corpuscular volume, Leukocytosis, Thrombocytopenia, Anemia ...	ORPHA:86839
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa...	ORPHA:35858
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis	OMIM:603529
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612562
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an...	OMIM:127550
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ...	ORPHA:158057
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve...	OMIM:608203
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia	OMIM:603585
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly	OMIM:611590
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Diamond-Blackfan Anemia 11	Anemia, Anemia of inadequate production, Neutropenia	OMIM:614900
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Aplastic anemia, Neutropenia, Sp...	OMIM:308240
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Neutropenia, Splenomegaly, Anemia	ORPHA:79312
Specific Granule Deficiency 2	Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia	OMIM:617475
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate...	ORPHA:274
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, ...	OMIM:301078
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly	OMIM:615387
Immunodeficiency 102	Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence...	OMIM:301082
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil...	ORPHA:811
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ...	OMIM:618986
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly	OMIM:246400
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir...	OMIM:619705
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased...	OMIM:601859
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis	OMIM:616959
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Aggressive Systemic Mastocytosis	Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells...	ORPHA:98850
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi...	ORPHA:124
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec...	ORPHA:300298
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop...	OMIM:304790
Immunodeficiency 14B, Autosomal Recessive	B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis	OMIM:619281
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl...	ORPHA:486
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy...	OMIM:613673
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F...	ORPHA:231222
Griscelli Syndrome Type 2	Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia	ORPHA:79477
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Primary Familial Polycythemia	Abnormal hemoglobin, Polycythemia	ORPHA:90042
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia	OMIM:223350
Beta-Thalassemia	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:848
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Sple...	ORPHA:158061
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Neonatal Lupus Erythematosus	Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly	ORPHA:398124
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp...	OMIM:226990
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Anemia, Giant platelets	OMIM:611209
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut...	OMIM:187900
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Neutropenia, Anemia	OMIM:614520
Immunodeficiency By Defective Expression Of Mhc Class Ii	T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Pancytopenia, Autoimmune...	ORPHA:572
Transcobalamin Ii Deficiency	Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:275350
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Evans Syndrome	Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr...	ORPHA:1959
Congenital Enterovirus Infection	Leukopenia, Anemia, Abnormal macrophage morphology, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:292
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop...	OMIM:603909
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia	OMIM:619752
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Neutropenia, Normochromic anemia	OMIM:614857
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia	ORPHA:514
Acute Promyelocytic Leukemia	Leukopenia, Anemia, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:520
Chediak-Higashi Syndrome	Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Impaired neutrophil bactericidal...	OMIM:214500
Propionic Acidemia	Anemia, Thrombocytopenia, Neutropenia, Pancytopenia	OMIM:606054
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Lathosterolosis	Anisopoikilocytosis, Hepatosplenomegaly, Schistocytosis, Increased mean platelet volume, Acanthoc...	OMIM:607330
Felty Syndrome	Anemia, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lymphocyte morphology	ORPHA:47612
Cyclic Neutropenia	Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ...	ORPHA:2686
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Thrombocytopenia, Neutropenia, Anemia	ORPHA:47
Methylmalonic Aciduria, Cblb Type	Anemia, Thrombocytopenia, Neutropenia, Pancytopenia	OMIM:251110
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He...	ORPHA:158048
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, Folate-respons...	OMIM:601775
Syndromic Diarrhea	Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Thrombocytosis, Increased mean platelet volume	ORPHA:84064
Barth Syndrome	Hypochromic microcytic anemia, Neutropenia, Cyclic neutropenia, Granulocytopenia	OMIM:302060
Pgm3-Cdg	Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop...	ORPHA:443811
Methylmalonic Aciduria, Cbla Type	Anemia, Thrombocytopenia, Neutropenia, Pancytopenia	OMIM:251100
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo...	OMIM:607594
Kasabach-Merritt Syndrome	Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop...	ORPHA:2330
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut...	OMIM:260400
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:508542
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume	OMIM:617718
Dominant Beta-Thalassemia	Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos...	ORPHA:231226
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Neutropenia	OMIM:613989
Trichohepatoenteric Syndrome 1	Thrombocytosis, Increased mean platelet volume, Splenomegaly	OMIM:222470
Beta-Thalassemia Major	Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c...	ORPHA:231214
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Imp...	OMIM:608233
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Immunodeficiency 55	Neutropenia, Absent natural killer cells, Lymphopenia	OMIM:617827
Necrotizing Enterocolitis	Thrombocytopenia, Neutropenia, Leukocytosis	ORPHA:391673
Immunodeficiency 92	B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc...	OMIM:619652
Fanconi Anemia, Complementation Group E	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:600901
Wiskott-Aldrich Syndrome	Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos...	OMIM:301000
Pyropoikilocytosis, Hereditary	Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis	OMIM:266140
Schimke Immunoosseous Dysplasia	Anemia, Abnormal T cell morphology, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:242900
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:540
Cartilage-Hair Hypoplasia	Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi...	OMIM:250250
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos...	OMIM:618278
Fanconi Anemia, Complementation Group A	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:227650
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Splenomegaly	ORPHA:86843
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:277380
Trichothiodystrophy 3, Photosensitive	Neutropenia, Lymphopenia	OMIM:616395
Mitochondrial Complex I Deficiency, Nuclear Type 33	Neutropenia	OMIM:618253
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopenia, Acute leu...	ORPHA:3226
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen...	OMIM:612541
Schimke Immuno-Osseous Dysplasia	Anemia, Lymphopenia, Decreased proportion of naive CD8 T cells, Thrombocytopenia, Neutropenia, Ab...	ORPHA:1830
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess	OMIM:615816
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, B lymphocytopenia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hem...	OMIM:614700
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Anemia, Neutrophilia, Liver abscess	ORPHA:54251
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:617303
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:308230
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Pearson Marrow-Pancreas Syndrome	Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Pancytopenia, T...	OMIM:557000
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Fanconi Anemia, Complementation Group C	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:227645
Sepsis In Premature Infants	Anemia, Leukocytosis, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:90051
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos...	ORPHA:911
Methylmalonic Acidemia With Homocystinuria Type Cblf	Neutropenia, Megaloblastic anemia	ORPHA:79284
Wiskott-Aldrich Syndrome	Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph...	ORPHA:906
3-Methylglutaconic Aciduria Type 7	Neutropenia, Infection associated neutropenia	ORPHA:445038
Agammaglobulinemia 1, Autosomal Recessive	Neutropenia, Rectal abscess, B lymphocytopenia	OMIM:601495
Chédiak-Higashi Syndrome	Anemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatosplenomegaly, Hemophagocytos...	ORPHA:167
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Relapsing Fever	Leukopenia, Anemia, Neutrophilia, Leukocytosis, Thrombocytopenia	ORPHA:91547
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr...	OMIM:615952
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm...	OMIM:613179
Aspergillosis	Neutropenia, Eosinophilia	ORPHA:1163
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Fanconi Anemia, Complementation Group I	Neutropenia	OMIM:609053
Bare Lymphocyte Syndrome, Type Ii	Neutropenia	OMIM:209920
Hermansky-Pudlak Syndrome 10	Neutropenia, Splenomegaly	OMIM:617050
Poikiloderma With Neutropenia	Leukopenia, Neutropenia, Splenomegaly	OMIM:604173
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem...	ORPHA:37042
Spondyloenchondrodysplasia With Immune Dysregulation	Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:607944
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Monocytosis, Thrombocytopenia	OMIM:619644
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Neutropenia, Megaloblastic anemia	OMIM:277400
Fusariosis	Brain abscess, Granuloma, Lung abscess, Lymphopenia, Abnormality of the spleen, Neutropenia	ORPHA:228119
Agammaglobulinemia, X-Linked	Anemia, Neutropenia, T lymphocytopenia, B lymphocytopenia	OMIM:300755
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro...	OMIM:301074
Fanconi Anemia, Complementation Group D2	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:227646
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Neutropenia	OMIM:615471
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Diamond-Blackfan Anemia 1	Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea...	OMIM:105650
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia	OMIM:618005
Toxic Epidermal Necrolysis	Thrombocytopenia, Neutropenia, Anemia	ORPHA:537
Eisenmenger Syndrome	Hypochromic microcytic anemia, Increased mean corpuscular volume, Brain abscess, Iron deficiency ...	ORPHA:97214
Whim Syndrome	Neutropenia, Lymphopenia, Abnormality of neutrophil morphology	ORPHA:51636
Khan-Khan-Katsanis Syndrome	Anemia, Neutropenia, Lymphopenia	OMIM:618460
Autoimmune Lymphoproliferative Syndrome	Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an...	ORPHA:3261
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Abnormality of the spleen, Myeloproliferative disorder	ORPHA:79456
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Leigh Syndrome	Anemia, Neutropenia	ORPHA:506
Vici Syndrome	Leukopenia, T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:242840
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis	OMIM:617099
Kikuchi-Fujimoto Disease	Leukopenia, Anemia, Lymphocytosis, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:50918
X-Linked Lymphoproliferative Disease	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	ORPHA:2442
Rothmund-Thomson Syndrome	Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:2909
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia	ORPHA:33364
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Cohen Syndrome	Neutropenia	ORPHA:193
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:221008
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Thrombocytopenia, Neutropenia, Megaloblastic anemia	ORPHA:79282
Thymoma	Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia	ORPHA:99867
Pediatric-Onset Graves Disease	Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly	ORPHA:525731
Glycogen Storage Disease Ib	Neutropenia, Splenomegaly	OMIM:232220
Hermansky-Pudlak Syndrome	Abnormality of thrombocytes, Neutropenia	ORPHA:79430
Adult-Onset Still Disease	Neutrophilia, Splenomegaly, Leukocytosis	ORPHA:829
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:221016
Cartilage-Hair Hypoplasia	Anemia, Neutropenia	ORPHA:175
Pearson Syndrome	Anemia, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hypoplastic spleen, Neutropenia, Splenom...	ORPHA:699
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Staphylococcal Necrotizing Pneumonia	Leukopenia, Neutrophilia, Leukocytosis	ORPHA:36238
Sweet Syndrome	Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Leukoc...	ORPHA:3243
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph...	ORPHA:391487
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia	ORPHA:139402
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Lead Poisoning	Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia	ORPHA:330015
Selective Igm Deficiency	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-positive T cell...	ORPHA:331235
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Pancytopenia, Hepatosplenome...	ORPHA:228426
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Anemia, Abnormal myeloid leukocyte morphology	ORPHA:79259
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Neutrophilia, Splenomegaly, Abscess	OMIM:612852
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Zygomycosis	Brain abscess, Neutropenia, Splenic abscess	ORPHA:73263
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:301040
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Chronic neutropenia, Transient neutropenia	ORPHA:500095
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Glycogen Storage Disease Ic	Cyclic neutropenia	OMIM:232240
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly	OMIM:260920
Aspartylglucosaminuria	Neutropenia, Vacuolated lymphocytes	OMIM:208400
Familial Mediterranean Fever	Neutrophilia, Splenomegaly, Leukocytosis	OMIM:249100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455
Sponastrime Dysplasia	Neutropenia	ORPHA:93357
Liver Disease, Severe Congenital	Leukopenia, Anemia, Lymphocytosis, Thrombocytopenia, Splenomegaly	OMIM:619991
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects		OMIM:620083

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

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