Gene Summary

Name:
heterogeneous nuclear ribonucleoprotein D
Synonyms:
Auf1,  Hnrpd

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased anxiety-related response Hnrnpdtm1b(KOMP)Wtsi HET Early adult 5.39×10-05
increased eosinophil cell number Hnrnpdtm1b(KOMP)Wtsi HET Early adult 3.15×10-08
decreased leukocyte cell number Hnrnpdtm1b(KOMP)Wtsi HET Early adult 1.44×10-06
increased basophil cell number Hnrnpdtm1b(KOMP)Wtsi HET Early adult 8.46×10-25
hypoactivity Hnrnpdtm1b(KOMP)Wtsi HET   Early adult 1.34×10-05
decreased lymphocyte cell number Hnrnpdtm1b(KOMP)Wtsi HET Early adult 3.21×10-09
increased thigmotaxis Hnrnpdtm1b(KOMP)Wtsi HET Early adult 4.48×10-05
abnormal behavior Hnrnpdtm1b(KOMP)Wtsi HET Early adult 4.48×10-05

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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 Hnrnpd mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... OMIM:614372
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Immunodeficiency 40
Lymphopenia OMIM:616433
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Obesity, Agammaglobulinemia, Recurrent bacterial inf... OMIM:300310
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Failure to thrive, Recurrent ba... OMIM:613501
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Failure to thrive, Short stature, Recurrent respiratory infections, Recur... OMIM:616022
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia OMIM:615387
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Unsteady gait, Anxiety, Eosinophilia OMIM:618092
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Decreased circulating IgG level, Recurrent bacterial infections OMIM:242870
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Halothane Hepatitis
Eosinophilia OMIM:234350
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivi... OMIM:612692
Immunodeficiency 19
Lymphopenia OMIM:615617
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Immunodeficiency, Common Variable, 6
Enlarged kidney, Purpura, Nephrotic range proteinuria, Mesangial Immune complex deposition, Recur... OMIM:613496
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Kimura Disease
Eosinophilia ORPHA:482
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Complete or near-complete absence of specific antibody response to unconjuga... OMIM:613494
Immunodeficiency 12
Growth delay, Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Recurrent bac... OMIM:613502
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Difficulty walking, Eosinophilia OMIM:253600
Candidiasis, Familial, 2
Hypereosinophilia OMIM:212050
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent upper and lower respiratory tract infect... ORPHA:275
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Abnormal serum interleukin level, BCGosis, Histoplasmos... ORPHA:319552
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Vira... OMIM:209920
Wells Syndrome
Eosinophilia ORPHA:901
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Panhypogammaglobul... ORPHA:572
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Drug-Induced Lupus Erythematosus
Hematuria, Pericarditis, Increased blood urea nitrogen, Petechiae, Malar rash, Elevated circulati... ORPHA:231111
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Hematuria, Chronic kidney disease, Recurrent b... OMIM:609814
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Recurrent bact... OMIM:613779
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Necrotizing enterocoli... OMIM:613860
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Cinca Syndrome
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia OMIM:607115
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Increased circulating guanosine concentration, Recurrent uppe... OMIM:613179
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent sinu... OMIM:607594
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, ... OMIM:307200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Failure to thrive, Recurrent pneumonia OMIM:617475
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Igg4-Related Retroperitoneal Fibrosis
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Budd-Chiari syndro... ORPHA:49041
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent bacterial infections, Imp... OMIM:608184
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Abnormality of serum cyto... ORPHA:94059
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Eosinophilia OMIM:618523
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Bronchiectasis, Recurrent bacterial... OMIM:608957
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent upper and lower respiratory tract infect... ORPHA:911
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Hypertension, Membranoproliferative glomeruloneph... ORPHA:251004
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Irritability, Leuk... OMIM:229050
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Sc... OMIM:308230
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Ane... OMIM:304790
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Roifman Syndrome
Hepatosplenomegaly, Eosinophilia ORPHA:353298
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Disseminated nontuberculous myc... OMIM:300636
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Immune Deficiency Disease
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... OMIM:242850
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Azotemia, Familial
Azotemia OMIM:109160
Complement Factor B Deficiency
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Ataxia, Abscess, Eosinophilia OMIM:615816
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Increased blood urea nitrogen, Orthostatic hypotension, Growth delay, ... OMIM:223900
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Pyelonephritis, Recurrent otitis media, Recurrent si... OMIM:610984
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Increased blood urea nitrogen, Purpura, Anuria, Elevated circulating creatin... OMIM:235400
Adult Idiopathic Neutropenia
Increased circulating IgM level, Recurrent fungal infections, Helicobacter pylori infection, Recu... ORPHA:2688
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Growth delay, Short stature, Recurrent bact... OMIM:616005
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Otitis media, Chronic sinusitis OMIM:300455
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Recurrent fungal infections, Chronic oral candidiasis, Decreased... OMIM:606367
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly OMIM:617388
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Increased blood urea nitrogen, Orthostatic hypotension, Nocturia, Elev... ORPHA:230
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Netherton Syndrome
Hypereosinophilia OMIM:256500
Angiostrongyliasis
Hypereosinophilia, Irritability ORPHA:74
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Immunodeficiency 47
Decreased circulating antibody level, Recurrent bacterial infections OMIM:300972
Vici Syndrome
Cutaneous anergy, Penile hypospadias, Recurrent fungal infections, Growth delay, Decreased circul... OMIM:242840
Mirage Syndrome
Microphallus, Intracranial hemorrhage, Recurrent urinary tract infections, Hyponatremia, Decrease... OMIM:617053
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Recurrent bacterial infections OMIM:616873
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Glycogen Storage Disease Ib
Enlarged kidney, Focal segmental glomerulosclerosis, Hyperuricemia, Hypertension, Hyperlipidemia,... OMIM:232220
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Uveitis, Hypertension, Postnatal growth retardation, Conjunctiviti... ORPHA:90321
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233710
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Thyroiditis, Hyperuricemia, Delayed puberty, Hyperlipidemia, Enlarged kidne... ORPHA:79259
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Increased circulating IgA level,... OMIM:300291
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Proteinuri... ORPHA:470
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Epistaxis, Petechiae, Recurrent bacterial infections, Sepsis, Recurrent skin i... OMIM:612840
Hypocomplementemic Urticarial Vasculitis
Skin rash, Small vessel vasculitis, Hematuria, Uveitis, Glomerulopathy, Meningitis, Arthritis, Co... ORPHA:36412
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Bronchiectasis, Acute infectious pneumonia, Myocardi... ORPHA:60033
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis OMIM:615978
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Aminoaciduria, Decreased platelet glycoprotein Ib, Re... OMIM:603585
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:306400
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Eosinophilia ORPHA:183
Scleroderma
Hypereosinophilia, Anxiety, Depression ORPHA:801
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Hemochromatosis, Type 3
Lymphopenia, Neutropenia, Anemia OMIM:604250
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... ORPHA:508533
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Lethargy, Eosinophilia, Macrocytic anemia ORPHA:199299
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Proportionate short stature, Birth length less than 3rd percentile,... OMIM:244460
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Chronic otitis media, Recurrent viral infections, Pneumonia, Meningi... ORPHA:169090
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Severe intrauterine growth retardation, Postnatal growth retardation, Recurrent bac... OMIM:241410
Alveolar Echinococcosis
Cutaneous abscess, Abnormal spleen morphology, Ataxia, Anemia, Liver abscess, Eosinophilia ORPHA:284
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T ... ORPHA:760
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Abnormal platelet function, Abnormal bleeding, Recurren... ORPHA:167
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Decreased specific antibody response to va... ORPHA:221139
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Hyperoxaluria, Enuresis, Decreased glomer... ORPHA:93598
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Hematuria, Azotemia, Hypertension, Glomerulonephritis, Glo... OMIM:104200
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Hepatosplenom... ORPHA:3260
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Thrombocytopenia, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:274000
Incontinentia Pigmenti
Gait disturbance, Attention deficit hyperactivity disorder, Eosinophilia ORPHA:464
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Growth delay, Mitral regurgitation, Pulmonic stenosis, Hydronephrosis, Failure to thrive, Recurre... OMIM:612541
Whim Syndrome
Severe periodontitis, Parotitis, Bronchiectasis, Recurrent upper respiratory tract infections, Ly... ORPHA:51636
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regurgitation, Pulmonary... ORPHA:99103
Shwachman-Diamond Syndrome
Skin rash, Osteomyelitis, Growth delay, Hypoamylasemia, Recurrent viral infections, Impaired neut... ORPHA:811
Ataxia-Telangiectasia
Gait disturbance, Lymphopenia, Ataxia ORPHA:100
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Goodpasture Syndrome
Pulmonary hemorrhage, Erythrocyte cylindruria, Increased blood urea nitrogen, Cylindruria, Weight... OMIM:233450
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Prolonged bleeding time, Chronic oral candidiasis, Recurrent otitis media, I... OMIM:608233
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Periodontitis, Recurrent bacterial infections, Osteomyelitis... OMIM:116920
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99104
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Coccidioidomycosis
Abscess, Abnormality of the spleen, Granuloma, Eosinophilia ORPHA:228123
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Waddling gait, Anemia OMIM:242900
Infantile Systemic Hyalinosis
Growth delay, Severe short stature, Telangiectasia of the skin, Failure to thrive, Recurrent bact... ORPHA:2176
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Granuloma, Perianal abscess, Splenomegal... OMIM:618935
Chediak-Higashi Syndrome
Recurrent systemic pyogenic infections, Spontaneous, recurrent epistaxis, Recurrent bacterial ski... OMIM:214500
Complement Component 5 Deficiency
Generalized seborrheic dermatitis, Recurrent meningococcal disease OMIM:609536
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level, Growth delay, Recurrent bacterial infections OMIM:248500
Nephrotic Syndrome, Type 14
Lymphopenia, Ataxia OMIM:617575
Igg4-Related Kidney Disease
Eosinophilia ORPHA:449395
Popov-Chang syndrome
Self-injurious behavior, Lymphopenia OMIM:618428
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Ataxia, Thrombocytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity OMIM:127550
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly OMIM:616100
Chromomycosis
Keratoconjunctivitis sicca, Keratitis, Recurrent bacterial infections ORPHA:182
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... OMIM:250250
Sarcoidosis
Hemolytic anemia, Increased T cell count, Thrombocytopenia, Anemia, Leukopenia, Eosinophilia ORPHA:797
Ataxia-Telangiectasia
T lymphocytopenia, Dystonia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, At... OMIM:208900
Primary Ciliary Dyskinesia
Bronchiectasis, Recurrent otitis media, Chronic otitis media, Recurrent sinopulmonary infections,... ORPHA:244
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Sickle Cell Anemia
Renal insufficiency, Hematuria, Hypertension, Recurrent bacterial infections OMIM:603903
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the kidney, Scleritis, Hydroureter, Growth delay, Uveitis, Severe short stature, C... ORPHA:2273
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Short Stature, Microcephaly, And Endocrine Dysfunction
Dysdiadochokinesis, Gait disturbance, Lymphopenia, Ataxia, Anemia, Dysmetria, Broad-based gait OMIM:616541
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Leukopenia, Lymphopenia OMIM:615934
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Legionnaires Disease
Lymphopenia, Bone marrow hypocellularity, Ataxia, Splenomegaly ORPHA:549
Secondary Intestinal Lymphangiectasia
Lymphopenia ORPHA:90363
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia ORPHA:93552
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Ataxia, Pancytopenia, Splenomegaly, Anemia, Leukopenia... OMIM:615688
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Proteasome-Associated Autoinflammatory Syndrome 3
Thrombocytopenia, Lymphopenia, Anemia, Splenomegaly OMIM:617591
Avian Influenza
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:454836
Fusariosis
Lung abscess, Lymphopenia, Granuloma, Neutropenia, Abnormality of the spleen, Brain abscess ORPHA:228119
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Neutropenia, Autoimmune thrombocytopenia OMIM:607944
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Anemia ORPHA:935
Common Variable Immunodeficiency
Lymphopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly ORPHA:1572
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Lymphopenia ORPHA:90362
Primary Sjögren Syndrome
Depression, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Normocytic anemia, ... ORPHA:289390
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Recurrent Staphylococcus aureus infections,... ORPHA:642
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Syndromic Diarrhea
Thrombocytosis, Lymphopenia, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly ORPHA:84064

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 Hnrnpd

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 Hnrnpd.

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

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MGI Allele Allele Type Produced
Hnrnpdtm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Hnrnpdtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hnrnpdtm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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