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Gene: Hpse MGI:1343124

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Gene Summary

Name:
heparanase
Synonyms:
Hpa

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IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased circulating creatinine level Hpsetm1b(EUCOMM)Hmgu HOM   Early adult 2.11×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Gross Pathology and Tissue Collection

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Immunophenotyping

Panel B FCS file(s)

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X-ray

XRay Images Skull Lateral Orientation

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Histopathology

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Immunophenotyping

Panel A FCS file(s)

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Human diseases caused by Hpse 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 Hpse by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Eosinophilia, Familial
Anemia, Recurrent bronchitis, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Abnormal pleura morphology, Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Eosino... OMIM:617638
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... OMIM:212050
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Recurrent respiratory infe... OMIM:226990
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... OMIM:619802
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Hepatitis, Increased circulating antibody level, Decreased proportion o... ORPHA:169160
Juvenile Temporal Arteritis
Conjunctivitis, Eosinophilia, Leukocytosis, Allergic rhinitis ORPHA:26137
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Maculopapular exanthema, Leukemia ORPHA:157991
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Bronchiectasis, Eczema, Recurrent otitis media, Eosinophilia, Keratitis, Recurrent respiratory in... OMIM:618523
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD4-positive helper T cells, T lymphocytopenia, Recurrent lower respirato... ORPHA:169154
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... OMIM:243700
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Recurrent sinusitis, Ec... OMIM:618282
Halothane Hepatitis
Hepatitis, Viral hepatitis, Eosinophilia OMIM:234350
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis, Recurrent sinopulmonary infectio... OMIM:147060
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Eczema, Lymphopenia, Recurrent respiratory inf... OMIM:300988
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... OMIM:601859
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased cir... ORPHA:331206
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Benign Cephalic Histiocytosis
Skin rash, Histiocytosis, Inflammatory abnormality of the skin ORPHA:157997
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Neutropenia, Periodontitis, Acut... ORPHA:486
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Malar rash, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta... OMIM:603909
Pgm3-Cdg
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... ORPHA:443811
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision... OMIM:602450
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Immunodeficiency 7
Hypereosinophilia, Chronic oral candidiasis, Recurrent respiratory infections, Recurrent otitis m... OMIM:615387
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemi... OMIM:247800
Eosinophilic Fasciitis
Arthritis, Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia ORPHA:3165
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Hepatitis, Arthritis, Coombs-positive hemolytic anemia, Eczema, Autoimmune thrombocytopen... OMIM:304790
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Pleural effusion, Hypersensitivity pneumonitis, Leukocytosis, Increased circul... ORPHA:2902
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy... ORPHA:90045
Esophagitis, Eosinophilic, 1
Esophagitis, Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Esophagitis, Eosinophilia OMIM:613412
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Inflammatory abnormality of the skin, Skin ra... OMIM:102700
Cinca Syndrome
Anemia, Skin rash, Arthritis, Uveitis, Hepatosplenomegaly, Eosinophilia, Leukocytosis OMIM:607115
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Recurrent bacterial skin infections, Chronic oral candidiasis, Skin rash, Lymphocy... ORPHA:911
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level, Eczema, Recurrent otitis media... ORPHA:353298
Aspergillosis
Osteomyelitis, Neutropenia, Bronchiectasis, Hepatitis, Pleuritis, Pleural effusion, Sinusitis, Hy... ORPHA:1163
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Bronchiectasis, Recurrent lower respiratory tract infections, Decreased eosinoph... OMIM:619632
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ... OMIM:618986
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Iga Pemphigus
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Ulcerative coliti... ORPHA:555905
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Immunodeficiency 102
Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive helper T cells, Recurre... OMIM:301082
Immunodeficiency 23
Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Recurrent respiratory infections, Increased ... OMIM:615816
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Uveitis, Autoimmu... OMIM:617388
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pleura morphology, Abnormal eosinophil morphology ORPHA:724
Omenn Syndrome
Anemia, Thyroiditis, Eosinophilia, Erythroderma, Leukocytosis, Pneumonia, Splenomegaly, Abnormal ... ORPHA:39041
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Reticulocytosis, Glomerulonephritis, Gastritis, Bone marrow hyp... ORPHA:3261
Netherton Syndrome
Hypereosinophilia, Allergic rhinitis, Erythroderma, Increased circulating IgE level, Decreased ci... OMIM:256500
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Eryt... OMIM:603554
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Atopic dermatitis, Membranous nephropathy OMIM:618999
Wiskott-Aldrich Syndrome
Eczema, Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper T cells, D... OMIM:301000
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... ORPHA:449400
Lymphoproliferative Syndrome, X-Linked, 2
Erythema nodosum, Hepatitis, Folliculitis, Decreased circulating antibody level, Pancytopenia, In... OMIM:300635
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Lympho... ORPHA:139402
Cyclic Neutropenia
Respiratory tract infection, Enterocolitis, Perianal abscess, Periodontitis, Decreased eosinophil... ORPHA:2686
Roifman Syndrome
Eczema, Recurrent otitis media, Recurrent pneumonia, Eosinophilia, Splenomegaly OMIM:616651
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Micro... ORPHA:846
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Recurrent respiratory infections, Increased circu... ORPHA:2314
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal pulmonary interstitial morphology, Abnormal natural killer cell physiology, Decr... OMIM:613101
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Eczema, Bone marrow hypocellularity, Refractory anemia, Monoc... OMIM:616871
Eosinophilic Gastroenteritis
Anemia, Allergic rhinitis, Leukocytosis, Eosinophilia, Atopic dermatitis ORPHA:2070
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Acute Erythroid Leukemia
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity ORPHA:318
Wells Syndrome
Eosinophilia ORPHA:901
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Cystic Echinococcosis
Abnormal subpleural morphology, Peritoneal abscess, Increased circulating antibody level, Splenic... ORPHA:400
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... OMIM:619374
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... OMIM:615285
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Decreased circulating antibody level, Eczema, Bone marrow hypocellularity, Th... OMIM:618116
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Bronchiectasis, Emphysema ORPHA:1164
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:615715
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Reticular Dysgenesis
Leukopenia, Anemia, Decreased circulating antibody level, Skin rash, Abnormality of neutrophils, ... ORPHA:33355
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Tubulointerstitial nephritis, Abnormal pleura morphology, Skin rash, Arthritis, Nas... ORPHA:183
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Lymphopenia, Eosinophilia, Erythroderma OMIM:617425
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Nephritis, Sinusitis, Parotitis, Eosinophilia, A... ORPHA:449427
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Systemic Lupus Erythematosus
Malar rash, Leukopenia, Hemolytic anemia, Arthritis, Pleuritis, Nephritis, Pericarditis, Lupus ne... OMIM:152700
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol... ORPHA:232
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Coccidioidomycosis
Osteomyelitis, Pleural empyema, Folliculitis, Erythema nodosum, Skin rash, Arthritis, Morbillifor... ORPHA:228123
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Unilateral cryptorchidism, Macrocytic anemia, Increased mean corpusc... OMIM:300946
Loeffler Endocarditis
Pericarditis, Eosinophilia ORPHA:75566
Beta-Thalassemia
Anemia, Hypertrophic cardiomyopathy, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splen... ORPHA:848
Scleroderma
Hypereosinophilia, Abnormal pulmonary interstitial morphology, Myelitis, Osteomyelitis, Arthritis... ORPHA:801
Alveolar Echinococcosis
Anemia, Increased circulating antibody level, Liver abscess, Abnormal spleen morphology, Cutaneou... ORPHA:284
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Fibrocystic lung disease, Chronic mucocutaneous candidiasis, Recurrent pneu... OMIM:158310
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Stomatitis, Pancytopenia, Autoimmune th... OMIM:613011
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia OMIM:617744
Idiopathic Hypereosinophilic Syndrome
Splenomegaly, Anemia, Erythroderma, Inflammatory abnormality of the skin, Arthritis, Neutrophilia... ORPHA:3260
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation, Recurrent skin infections OMIM:614171
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating anti... ORPHA:508533
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Prostatitis, Thyroiditis, Cholangitis, Abnormal lung morphology... ORPHA:449563
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Prostatitis, Increased circulating antibody level, Increased ci... ORPHA:449432
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Igg4-Related Kidney Disease
Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Pericarditis, Eosinophilia... ORPHA:449395
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Reduction of neutrophil motility, Abnormally low T ... OMIM:608203
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Primary Familial Polycythemia
Epistaxis, Abnormal hemoglobin, Polycythemia ORPHA:90042
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Colit... ORPHA:2442
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic anemia, I... OMIM:612561
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Colitis OMIM:615190
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Epididymitis, Glomerulonephritis, Abnormal lung morphology, Orc... ORPHA:2035
Sarcoidosis
Pneumothorax, Bronchiectasis, Keratoconjunctivitis sicca, Pleural effusion, Increased T cell coun... ORPHA:797
Late-Onset Isolated Acth Deficiency
Hepatitis, Normocytic anemia, Hashimoto thyroiditis, Macrocytic anemia, Eosinophilia ORPHA:199299
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Eczema, Thrombocytopenia, Arthritis, Neutropenia, Recurrent respiratory... ORPHA:906
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Incontinentia Pigmenti
Uveitis, Leukocytosis, Eosinophilia, Keratitis, Maculopapular exanthema OMIM:308300
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Cholelithiasis, Increased HbA2 hemoglobin, Erythroid hyperplasia... ORPHA:231222
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Incontinentia Pigmenti
Skin rash, Uveitis, Eosinophilia, Keratitis, Infectious encephalitis ORPHA:464
Acquired Methemoglobinemia
Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia ORPHA:464453
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Thrombocytopenia-Absent Radius Syndrome
Anemia, Decreased circulating antibody level, Hepatosplenomegaly, Eosinophilia, Leukocytosis, Thr... OMIM:274000
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... OMIM:613095
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Extramedullary hematopoiesis, Decreased mean corpuscular hem... ORPHA:231226
Beta-Thalassemia Major
Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin c... ORPHA:231214
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty... OMIM:608836
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia, Cryptorchidism ORPHA:98791
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceridemia OMIM:618885
Juvenile Nephropathic Cystinosis
Aminoaciduria, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circula... ORPHA:411634
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Primary Sclerosing Cholangitis
Splenomegaly, Hepatitis, Thyroiditis, Abnormal eosinophil morphology, Ulcerative colitis, Uveitis... ORPHA:171
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Elevated circulating creatinine concentra... ORPHA:85450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Elevated circulating luteinizing hormone level OMIM:250790
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Persistence of hemoglobin F OMIM:619769
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Viss Syndrome
Hypereosinophilia, Pulmonary artery aneurysm, Pneumothorax, Increased circulating IgG level, Ecze... OMIM:619472
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Dermatomyositis
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Arthritis, Abnormal... ORPHA:221
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... ORPHA:90038
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cushing Disease
Recurrent cutaneous fungal infections, Decreased eosinophil count, Lymphopenia, Leukocytosis, Acne ORPHA:96253
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Low anterior hairline, Reticulocytopenia, Pure red cell aplas... ORPHA:124
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Lead Poisoning
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Hypertension, Anemia ORPHA:330015
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Thymoma
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia ORPHA:75565
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Cryptorchidism ORPHA:847
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circula... ORPHA:99826
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio, Cryptorchidism OMIM:301040
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Cushing Syndrome Due To Ectopic Acth Secretion
Recurrent cutaneous fungal infections, Decreased eosinophil count, Lymphopenia, Small cell lung c... ORPHA:99889
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... OMIM:619534
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... ORPHA:91500

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.

Phenotype Allele Zygosity Sex Life Stage
Mammary gland - MPATH pathological process term hyperplasia Hpsetm1b(EUCOMM)Hmgu HOM Early adult

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 Hpse.

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

Title Journal IMPC Allele PubMed ID
Bone marrow niche-derived extracellular matrix-degrading enzymes influence the progression of B-cell acute lymphoblastic leukemia. Leukemia (January 2020) Hpsetm1a(EUCOMM)Hmgu PMC7266746

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MGI Allele Allele Type Produced
Hpsetm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Hpsetm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hpsetm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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