Gene Summary

Name:
PR domain containing 2, with ZNF domain
Synonyms:
Riz1,  Riz,  4833427P12Rik,  KMT8,  LOC381568,  E330024L24Rik

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
decreased hematocrit Prdm2em1(IMPC)Marc HOM Early adult 7.88×10-05
increased mean corpuscular hemoglobin concentration Prdm2em1(IMPC)Marc HOM Early adult 1.35×10-34
increased eosinophil cell number Prdm2em1(IMPC)Marc HOM Early adult 1.29×10-15
increased grip strength Prdm2em1(IMPC)Marc HOM Early adult 5.31×10-05
increased basophil cell number Prdm2em1(IMPC)Marc HOM Early adult 2.95×10-16
increased mean corpuscular hemoglobin Prdm2em1(IMPC)Marc HOM Early adult 1.77×10-14
increased circulating creatinine level Prdm2em1(IMPC)Marc HOM Early adult 3.18×10-06

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 Prdm2 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 Prdm2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Desmoid Disease, Hereditary
Desmoid tumors, Breast carcinoma OMIM:135290
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Milroy Disease
Hydrocele testis, Neoplasm of the skin, Angiosarcoma ORPHA:79452
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Bazex Syndrome
Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Kimura Disease
Eosinophilia ORPHA:482
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... OMIM:607115
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Meige Disease
Angiosarcoma, Pleural effusion ORPHA:90186
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma ORPHA:296
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Wells Syndrome
Eosinophilia ORPHA:901
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Immunodeficiency 7
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia OMIM:615387
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... ORPHA:2591
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Liposarcoma
Sarcoma ORPHA:69078
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion, Fibrosarcoma, Abnormality of the ovary ORPHA:314478
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Cutaneous abscess OMIM:147060
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Desmoid Tumor
Fibroma, Neoplasm of the skin, Desmoid tumors ORPHA:873
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... ORPHA:83469
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Adrenocortical Carcinoma
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma ORPHA:1501
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Elevated circulating C-reactive pro... OMIM:617388
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:2902
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Roifman Syndrome
Splenomegaly, Eosinophilia OMIM:616651
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly ORPHA:353298
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... ORPHA:848
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Aicardi Syndrome
Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang... OMIM:304050
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Eosinophilia, Cutaneous abscess OMIM:618282
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Bronchiectasis, Neoplasm of the lung, Neoplasm,... ORPHA:662
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma ORPHA:69077
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... OMIM:613254
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... OMIM:602450
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... ORPHA:199299
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Immunodeficiency 23
Hemolytic anemia, Abscess, Eosinophilia, Neutropenia, Lymphopenia OMIM:615816
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Fibr... ORPHA:733
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... OMIM:619632
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... OMIM:102700
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia OMIM:608104
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Dermatomyositis
Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int... ORPHA:221
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Recurrent pneumonia OMIM:619750
Medulloblastoma
Medulloblastoma OMIM:155255
Netherton Syndrome
Hypereosinophilia OMIM:256500
Cystic Echinococcosis
Abscess, Eosinophilia, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess ORPHA:400
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Pulmonary artery stenosis, Breast carcinoma, Squamous... ORPHA:902
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Desmoid tumors, Adenocarcinoma of the colon ORPHA:247798
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... ORPHA:276152
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Cutaneous abscess ORPHA:284
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Cowden Syndrome
Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Cavernous heman... ORPHA:201
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon ORPHA:447877
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Tuberous Sclerosis 1
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... OMIM:191100
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Abnormality of the pulmonary vasculature ORPHA:33001
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... ORPHA:1018
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... OMIM:618885
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... ORPHA:3260
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... ORPHA:508533
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:99880
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc... ORPHA:36234
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma ORPHA:44890
Igg4-Related Pachymeningitis
Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449427
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:143
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration ORPHA:247691
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... ORPHA:99818
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... ORPHA:90041
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Cowden Syndrome 1
Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian... OMIM:158350
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... ORPHA:49041
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Cowden Syndrome 6
Goiter, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Hydr... OMIM:615109
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Neurofibromatosis Type 1
Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromo... ORPHA:636
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Coccidioidomycosis
Abnormality of the spleen, Granuloma, Abscess, Eosinophilia ORPHA:228123
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca... ORPHA:157794
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... OMIM:162200
Monosomy 22
Aplasia of the thymus, Schwannoma, Gonadal neoplasm, Meningioma, Sarcoma ORPHA:96123
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... ORPHA:449395
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Sarcoidosis
Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopen... ORPHA:797
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... ORPHA:99889
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Igg4-Related Ophthalmic Disease
Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449563
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... ORPHA:340
Carney Triad
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... ORPHA:139411
Lead Poisoning
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... ORPHA:330015
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... ORPHA:411634
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration ORPHA:93126
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Cryptorchidism, Acute lymphoblas... ORPHA:821
Tropical Endomyocardial Fibrosis
Splenomegaly, Hypoalbuminemia, Eosinophilia ORPHA:75565
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... ORPHA:1359
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... ORPHA:363700
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cushing Disease
Decreased eosinophil count, Leukocytosis, Lymphopenia ORPHA:96253
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocytosis ORPHA:171
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Viss Syndrome
Hypereosinophilia OMIM:619472
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... OMIM:619534

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 Prdm2

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 Prdm2.

No publications found that use IMPC mice or data for Prdm2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Prdm2em1(IMPC)Marc Deletion Mice
Prdm2tm249368(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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