Gene Summary

zinc finger protein 474

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 neutrophil cell number Zfp474em1(IMPC)Ccpcz HOM Early adult 2.60×10-09
increased eosinophil cell number Zfp474em1(IMPC)Ccpcz HOM Early adult 7.30×10-13
increased red blood cell distribution width Zfp474em1(IMPC)Ccpcz HOM Early adult 5.84×10-05
abnormal skin morphology Zfp474em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Zfp474em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Zfp474em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Zfp474em1(IMPC)Ccpcz HOM Early adult 8.15×10-13
decreased lymphocyte cell number Zfp474em1(IMPC)Ccpcz HOM Early adult 3.54×10-07
enlarged heart Zfp474em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Zfp474em1(IMPC)Ccpcz HOM Early adult 0.00

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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.


XRay Images Hind Leg and Hip

32 Images


XRay Images Skull Dorso Ventral Orientation

16 Images


XRay Images Whole Body Lateral Orientation

16 Images


XRay Images Whole Body Dorso Ventral

32 Images


XRay Images Skull Lateral Orientation

16 Images


XRay Images Forepaw

16 Images

Human diseases caused by Zfp474 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 Zfp474 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos... OMIM:615631
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Immunodeficiency 88
Eosinophilia OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Hepatosplenomegaly, Bilateral single transverse palmar creases, ... ORPHA:353298
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Roifman Syndrome
Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture, Ventricular septal defect,... OMIM:616651
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor... ORPHA:75566
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Cardiomegaly OMIM:227150
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... OMIM:616860
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macrocytic anemia, Anisocytosis, P... OMIM:300835
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Joint contracture of the hand, Hip dislocation, Clubbing OMIM:618523
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Omenn Syndrome
Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Hypothyroidism, Eo... ORPHA:39041
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of f... OMIM:616738
Neutropenia, Chronic Familial
Clubbing, Neutropenia, Clubbing of fingers OMIM:162700
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia, Hepatomegaly OMIM:615387
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Decreased eosinophil count OMIM:131430
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... OMIM:274000
Cinca Syndrome
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis OMIM:607115
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ... OMIM:258900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Hypothyroidism, ... OMIM:304790
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Lymphopenia, Single transverse... OMIM:617425
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Scapular winging OMIM:253600
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocy... OMIM:603554
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Splenomegaly, ... OMIM:602450
Wells Syndrome
Eosinophilia ORPHA:901
Hemochromatosis, Type 3
Cardiomyopathy, Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Neutropenia, Anemia, Impo... OMIM:604250
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Hypothyr... OMIM:615952
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231226
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
O'Sullivan-Mcleod Syndrome
Intrinsic hand muscle atrophy, Eosinophilia, Hand muscle weakness ORPHA:99965
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Camptodactyly, Rocker bottom foot, Anisocytosis OMIM:604273
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia ORPHA:169160
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... OMIM:301310
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Severe B lymphocytopenia, Abnormal pelvic girdle bone morphology, Gro... OMIM:102700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Eosinophilia, Atrial septal defect, Sterile abscess, Pulmonic stenosis OMIM:618282
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the testis size, Abnormal heart morphology, Abscess, Ovarian c... ORPHA:400
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Hypothyroidism OMIM:618999
Peeling Skin Syndrome 1
Eosinophilia, Palmoplantar hyperhidrosis OMIM:270300
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Palmoplantar hyperkeratosis, Hepato... OMIM:617388
Eosinophilic Gastroenteritis
Anemia, Eosinophilia, Leukocytosis ORPHA:2070
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... OMIM:620501
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Cardiom... OMIM:618278
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Hepatomegaly, Auto... OMIM:614470
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Lymphopenia, Tetralogy of Fallot, Ventricu... OMIM:618624
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Eosinophilia, Abnormal long bone morphology, Neutropenia ORPHA:1163
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Eosinophilia, Lymphocytosis, Thyroiditis ORPHA:139402
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Immunodeficiency 23
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia OMIM:615816
Infantile Sialic Acid Storage Disease
Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Metaphyseal irregularity OMIM:269920
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotrop... ORPHA:199299
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Congenital hip dislocation, Cardiomyopath... OMIM:300280
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Alveolar Echinococcosis
Cutaneous abscess, Abnormal pericardium morphology, Eosinophilia, Abnormal spleen morphology, Abn... ORPHA:284
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Hemochromatosis, Type 1
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Amenorrhe... OMIM:235200
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Wolfram Syndrome 1
Limited mobility of proximal interphalangeal joint, Cardiomyopathy, Sideroblastic anemia, Hypothy... OMIM:222300
Congenital Toxoplasmosis
Hepatomegaly, Anemia, Cardiomegaly, Thrombocytopenia ORPHA:858
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... OMIM:602782
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce... OMIM:243700
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Short foot, Brachydactyly, Neutrophilia OMIM:266265
Eosinophilic Granulomatosis With Polyangiitis
Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocard... ORPHA:183
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Tetragametic Chimerism
Abnormal cellular immune system morphology, Clitoral hypertrophy, Bifid scrotum, Abnormality of t... ORPHA:199310
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Neuraminidase Deficiency
Cardiomyopathy, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lympho... OMIM:256550
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Anemia OMIM:618838
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Thromboc... ORPHA:3260
Diamond-Blackfan Anemia 11
Finger aplasia, Bone marrow hypocellularity, Absent thumb, Unilateral radial aplasia, Anemia of i... OMIM:614900
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Genital ulcers, Thrombocytopenia OMIM:616744
Immunodeficiency 95
Lymphopenia OMIM:619773
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Mirage Syndrome
Microphallus, Radial club hand, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Le... OMIM:617053
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Lymphatic Filariasis
Hypereosinophilia, Abnormal scrotum morphology, Orchitis, Vaginal hydrocele, Hydrocele testis, Ep... ORPHA:2035
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly OMIM:601163
Cantu Syndrome
Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs, Broad hallux,... OMIM:239850
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Abnormal heart morphology, Absent radius, Pancytopenia, Cryptorchidism... OMIM:600901
Netherton Syndrome
Hypereosinophilia OMIM:256500
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Aarskog-Scott Syndrome
Short 5th finger, Elevated circulating luteinizing hormone level, Clinodactyly, Radial deviation ... OMIM:305400
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Male infertility, Abnormal heart morphology, Absent radius, Pancytopen... OMIM:227650
Granuloma, Abnormality of the male genitalia, Abnormality of the spleen, Abscess, Abnormal long b... ORPHA:228123
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Eosinophilia OMIM:158310
Pseudo-Torch Syndrome 3
Cardiomegaly, Anemia, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Cardi... ORPHA:465508
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Supernumerary nipple, Camptodactyly of finger, Abnormal h... ORPHA:464
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly OMIM:620210
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal testis morphology, Neutrophilia, Anemia, Liver abscess ORPHA:54251
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia OMIM:613987
Attrv30M Amyloidosis
Cardiomegaly, Impotence, Cardiomyopathy ORPHA:85447
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia ORPHA:2314
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal thumb morphology, Mitral valve prolapse, Cardiomegaly, Abnormal a... ORPHA:324410
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Secundum atrial septal defect, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Leukop... OMIM:612541
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Ventricular septal de... OMIM:616897
Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Polycystic ovaries, Del... ORPHA:100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Short humerus, N... ORPHA:508542
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Hypereosinophilia ORPHA:74
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Incontinentia Pigmenti
Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplastic nipples, Eosin... OMIM:308300
Hepatosplenomegaly, External genital hypoplasia, Overlapping fingers, Cardiomegaly, Left ventricu... ORPHA:79330
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepato... ORPHA:3226
Mulibrey Nanism
Single transverse palmar crease, Cardiomegaly, Thickened cortex of long bones, Pericardial constr... OMIM:253250
Cartilage-Hair Hypoplasia
Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Lymphopenia, Femoral bowing, Limited... OMIM:250250
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Femoral bowing, Ventricular septal defect, Cardiomegaly, Hypoplasia of the t... OMIM:617022
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Lymphopenia, Autoimmune hemolytic anemia, Patent foramen ovale, Ne... OMIM:614868
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Splenom... OMIM:301078
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypothyroidis... OMIM:601005
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases ORPHA:1116
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency 44
Lymphopenia OMIM:616636
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly OMIM:620603
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Short long bone, ... OMIM:301110
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... ORPHA:79277
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Mitral valve prolapse, Bicuspid aortic valve, Talipes equinovar... OMIM:245600
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia ORPHA:99931
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Elevated circulating thyroid-stimulating hormone concentration, Bilate... OMIM:242900
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Noonan Syndrome 14
Clinodactyly, Hypertrophic cardiomyopathy, Lymphopenia, Limited elbow extension, Cryptorchidism, ... OMIM:619745
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Talipes equinovarus, Neutropenia OMIM:619752
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Enlarged lacrimal glands, Parotitis, Leukopenia, Enlargement of parotid gland, Abnormal reproduct... ORPHA:797
Igg4-Related Pachymeningitis
Eosinophilia, Parotitis ORPHA:449427
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly,... ORPHA:158687
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Cantú Syndrome
Short distal phalanx of finger, Finger syndactyly, Hypertrophic cardiomyopathy, Abnormal heart va... ORPHA:1517
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Ciliary Dyskinesia, Primary, 53
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... OMIM:620642
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly OMIM:212140
Developmental And Epileptic Encephalopathy 95
Short distal phalanx of finger, Short fourth metatarsal, Cryptorchidism, Single transverse palmar... OMIM:618143
Igg4-Related Kidney Disease
Sialadenitis, Prostatitis, Abnormality of the anterior pituitary, Eosinophilia, Enlarged kidney, ... ORPHA:449395
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Eosinophilia, Enlarge... ORPHA:449563
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Bi... OMIM:306955
Reni Syndrome
Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, Hypothyroidism, Micropenis OMIM:617575
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis OMIM:605309
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia ORPHA:88
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
2-3 toe syndactyly, Premature ovarian insufficiency, Lymphopenia ORPHA:391307
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Hepatomegaly OMIM:619644
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Clinodactyly, Lymphopenia, Cryptorchidism, Anemia, Hypothyroidism, Limb u... OMIM:616541
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Abnormality of the menstrual cycle, Microcytic an... ORPHA:906
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Cryptorchidism, Ventricular se... ORPHA:3472
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia, Bilateral cryptorchidism OMIM:616395
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Splenomegaly, Abscess, Peri... OMIM:618935
Refsum Disease, Classic
Cardiomegaly, Short fourth metatarsal, Cardiomyopathy OMIM:266500
Viss Syndrome
Coronary sinus enlargement, Hip dislocation, Hypereosinophilia, Genu valgum, Right ventricular hy... OMIM:619472
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hip dislocation, Hypoplastic scapulae, Varus deformity of hu... OMIM:252500
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of ... OMIM:243150
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin metatarsal cortices, Small hypothenar eminence, Thin metacarpal cortices, Slender long bone,... ORPHA:2463
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Autoinflammatory Disease, Systemic, With Vasculitis
Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Increased T cell count, ... OMIM:620376
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Lymphopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:617591
Down Syndrome
Secundum atrial septal defect, Polycythemia, Sandal gap, Tetralogy of Fallot, Atrioventricular ca... ORPHA:870
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia, Hip dislocation OMIM:300322
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Glandular hypospadias, Cardiomegaly, Talipes equinovarus, Short femur OMIM:620306
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Hypothyroidism... OMIM:158350
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia OMIM:616100
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Lymphopenia, Pancytopenia, Leukopenia, Ventricular septal defect, Bicusp... OMIM:620654
Adult-Onset Still Disease
Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Myocarditis, Anemia, Neutrophilia, Hepat... ORPHA:829
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly OMIM:617713
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Beck-Fahrner Syndrome
Cardiomegaly, Hip dysplasia, Ventricular septal defect OMIM:618798
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Dilated cardiomyopathy, Elbow flexion contracture, Cardiomegaly, Long toe, Long fing... OMIM:608836
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3... ORPHA:760
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Small hand, Lymphopenia, Cryptorchidism, Patent foram... OMIM:620005
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Hypoplastic scapulae, Finger swelling, Elevated circulating thyroid-stimu... OMIM:256040
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:608013
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence OMIM:268800
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Spondyloenchondrodysplasia With Immune Dysregulation
Short iliac bones, Lymphopenia, Metaphyseal sclerosis, T lymphocytopenia, Hypothyroidism, Neutrop... OMIM:607944
Sweet Syndrome
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Abnormality of the hand, Acute ... ORPHA:3243
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Increased circulating procalcitonin concentration, Neutrophilia, Diabet... ORPHA:36238
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype... ORPHA:99889
Ogden Syndrome
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Polycythe... OMIM:300855
Primary Intestinal Lymphangiectasia
Lymphopenia, Reduced proportion of CD4+ effector memory T cells, Anemia, Pericardial effusion, De... ORPHA:90362
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, T lymphocytopenia, Impaired lymphoc... ORPHA:35078
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil... OMIM:613179
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Orchitis, Neutrophilia, Hepatomegaly, Pericarditis OMIM:249100
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Coxa valga OMIM:230000
Truncus Arteriosus
Aplasia/hypoplasia involving bones of the extremities, Abnormal heart morphology, Tetralogy of Fa... ORPHA:3384
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Lymphopenia, Leukopenia, Decreased proportion of CD4-posi... OMIM:242840
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... OMIM:300967
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Limited elbow movemen... ORPHA:268
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Abnormal metaphysis morphology, Long fibula ORPHA:935
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Naxos Disease
Dilated cardiomyopathy, Palmoplantar keratoderma, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation OMIM:147060
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Impotence, Cardiomyopathy OMIM:105210
Whim Syndrome
Parotitis, Tetralogy of Fallot, Lymphopenia, Abnormal neutrophil morphology, Neutropenia, Cervix ... ORPHA:51636
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Neutrophilia, Hepatomegaly,... OMIM:620565
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Type I diabetes mellitus, Dilated cardiomyopathy, Lymphopenia, Hepat... OMIM:615688
Hepatomegaly, Hypothyroidism, Cardiomegaly ORPHA:349
Acanthocytosis, Reticulocytosis, Cardiomegaly, Talipes equinovarus, Anemia, Hypothyroidism, Hepat... ORPHA:14
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... ORPHA:96191
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Patent fo... ORPHA:391487
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... OMIM:127550
Khan-Khan-Katsanis Syndrome
Clinodactyly, Lymphopenia, Patent foramen ovale, Postaxial polydactyly, Neutropenia, Anemia OMIM:618460
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Splenomegaly, Abscess, Neutrophilia OMIM:612852
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia OMIM:617099
Syndromic Diarrhea
Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia, Splenomegaly, Ventricular septal def... ORPHA:84064
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adrenocortical cytomega... OMIM:130650
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, Talipes equinovarus, Finger joi... OMIM:620371
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Decreased serum insulin-like gro... OMIM:614921
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Cryptorchidism, Arachnodactyly, Slender toe, Long toe, Camptodac... ORPHA:3063
Mucopolysaccharidosis Type 3
Avascular necrosis of the capital femoral epiphysis, Genu valgum, Splenomegaly, Abnormal aortic v... ORPHA:581
Abnormal neutrophil count ORPHA:723
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Overlapping toe, Leukocytosis, Anemia, Limb undergrowth, Neutrophilia, Hepatom... ORPHA:99843
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Immunodeficiency 31C
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hypothyroidism, Delayed puberty, Impaired... OMIM:614162
Charge Syndrome
Lymphopenia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial septal defect, A... OMIM:214800
Liver Disease, Severe Congenital
Pancreatic hypoplasia, Dilatation of the ventricular cavity, Leukopenia, Splenomegaly, Patent for... OMIM:619991
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cardiomegaly, Abnormal cardiac septum morphology, Metacarpophal... ORPHA:97297
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular canal defect, Lymphopenia, De... OMIM:619573
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... OMIM:261740
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Beckwith-Wiedemann Syndrome
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Adrenocor... ORPHA:116
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomega... ORPHA:51
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Expanded metatarsal... OMIM:182250
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy ORPHA:228308
Common Variable Immunodeficiency
Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:1572
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Neutrophilia OMIM:260920
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Dilated cardiomyopathy, Shoulder girdle muscle weak... ORPHA:273
Williams Syndrome
Genu valgum, Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries... ORPHA:904
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, Arachnodactyly ORPHA:91387
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect, Polycystic ovaries ORPHA:137675
Crimean-Congo Hemorrhagic Fever
Neutrophilia, Parotitis, Adrenal insufficiency, Pancytopenia, Leukopenia, Splenomegaly, Leukocyto... ORPHA:99827
Myocarditis, Abnormal eosinophil morphology, Palmar hyperkeratosis, Pericarditis ORPHA:221
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:365
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Adrenal calcification, Abnormal hip joint morphology, Pancreatic calcifi... ORPHA:51608


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 Zfp474

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 Zfp474.

No publications found that use IMPC mice or data for Zfp474.

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MGI Allele Allele Type Produced
Zfp474em1(IMPC)Ccpcz Exon Deletion Mice
Zfp474tm279483(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zfp474tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Zfp474tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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