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Gene: Zfp474 MGI:1914008

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Gene Summary

Name:
zinc finger protein 474
Synonyms:
4933409D10Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased neutrophil cell number Zfp474em1(IMPC)Ccpcz HOM Early adult 2.60×10-09
abnormal skin morphology Zfp474em1(IMPC)Ccpcz HOM Early adult 0.00
increased eosinophil cell number Zfp474em1(IMPC)Ccpcz HOM Early adult 1.08×10-12
enlarged heart Zfp474em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Zfp474em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Zfp474em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lymphocyte cell number Zfp474em1(IMPC)Ccpcz HOM Early adult 3.54×10-07
abnormal testis morphology Zfp474em1(IMPC)Ccpcz HOM Early adult 0.00
preweaning lethality, incomplete penetrance Zfp474em1(IMPC)Ccpcz HOM Early adult 0.00
increased red blood cell distribution width Zfp474em1(IMPC)Ccpcz HOM Early adult 5.84×10-05
abnormal digit morphology Zfp474em1(IMPC)Ccpcz HOM Early adult 8.15×10-13

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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XRay Images Forepaw

16 Images

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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
phenotypes		 Matching phenotypes Source
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom... OMIM:615631
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia 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
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Brachydactyly, Hypogonadotropic hypogonadism, Eosi... ORPHA:353298
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Short metacarpal, Ventricular septal defect, Eosinoph... OMIM:616651
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad... OMIM:613673
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:601859
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate p... OMIM:224120
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, ... OMIM:616860
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Clubbing, Eosinophilia, Hip dislocation OMIM:618523
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Thyroiditis, Abnormal metaphys... ORPHA:39041
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:603909
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Neutropenia, Chronic Familial
Clubbing of fingers, Clubbing, Neutropenia OMIM:162700
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec... OMIM:274000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutrope... OMIM:616738
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Cinca Syndrome
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly OMIM:607115
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Eosi... OMIM:617425
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Eosinophilia OMIM:253600
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, B lymphocytopeni... OMIM:602450
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Coombs-positive hemolytic anemia, Ne... OMIM:304790
Dominant Beta-Thalassemia
Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Extramedullary hematopoiesis, De... ORPHA:231226
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Rocker bottom foot, Anisocytosis, Camptodactyly OMIM:604273
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Pgm3-Cdg
Hemolytic anemia, Brachydactyly, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor... ORPHA:443811
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Cardiomyopathy, Impotence, Neutropenia, Lymphopenia, Anemia, Ameno... OMIM:604250
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Cutaneous abscess OMIM:147060
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, T lymphocytopenia, Narrow greater sciatic notch, Short phalanx of finger,... ORPHA:508533
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Pulmonic stenosis, Atrial septal defect, Sterile abscess OMIM:618282
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Wells Syndrome
Eosinophilia ORPHA:901
Cystic Echinococcosis
Hepatomegaly, Abscess, Abnormality of the testis size, Eosinophilia, Abnormal heart morphology, O... ORPHA:400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
O'Sullivan-Mcleod Syndrome
Eosinophilia, Intrinsic hand muscle atrophy, Hand muscle weakness ORPHA:99965
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Peeling Skin Syndrome 1
Palmoplantar hyperhidrosis, Eosinophilia OMIM:270300
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Eosinophilia, Hepatosplenomegaly OMIM:618999
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... ORPHA:444463
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Palmopla... OMIM:617388
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
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... OMIM:618278
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Noonan Syndrome 12
Ventricular septal defect, Decreased response to growth hormone stimulation test, Proximal placem... OMIM:618624
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... OMIM:614470
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Limited mobili... OMIM:222300
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... OMIM:235200
Aspergillosis
Abnormal long bone morphology, Eosinophilia, Neutropenia ORPHA:1163
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphocytosis, Thyroiditis, Eosinophilia ORPHA:139402
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Metaphyseal irregularity OMIM:269920
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia OMIM:615816
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... OMIM:300280
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly ORPHA:858
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Alveolar Echinococcosis
Liver abscess, Abnormal pelvis bone morphology, Abnormal pericardium morphology, Eosinophilia, Pa... ORPHA:284
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia ORPHA:2902
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Premature ovarian in... ORPHA:199299
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma, Cardiomegaly OMIM:613576
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocarditis, Hypertrophic cardiomyop... ORPHA:183
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Tar... OMIM:603903
Congenital Disorder Of Glycosylation, Type Iic
Short foot, Brachydactyly, Neutrophilia, Reduction of neutrophil motility OMIM:266265
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnormality of the palmar crea... OMIM:618652
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Splenomegaly, Leukocytos... ORPHA:3260
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bicuspid aortic valve, Anemia of inadequate production, Absent thumb, Uni... OMIM:614900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy OMIM:601163
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia, Cardiomegaly OMIM:618838
Aarskog-Scott Syndrome
Short palm, Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease,... OMIM:305400
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Cantu Syndrome
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... OMIM:239850
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Netherton Syndrome
Hypereosinophilia OMIM:256500
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Thromb... OMIM:600901
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Lymphatic Filariasis
Orchitis, Epididymitis, Hypereosinophilia, Vaginal hydrocele, Hydrocele testis, Abnormality of th... ORPHA:2035
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Rocker bottom foot, Cryptorchidi... OMIM:617053
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly ORPHA:85447
Coccidioidomycosis
Abnormal sperm morphology, Pericarditis, Abscess, Eosinophilia, Abnormality of the endocrine syst... ORPHA:228123
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryp... OMIM:227650
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Eosinophilia OMIM:158310
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers OMIM:616744
Incontinentia Pigmenti
Finger syndactyly, Eosinophilia, Supernumerary nipple, Camptodactyly of finger, Abnormal hand mor... ORPHA:464
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly OMIM:618886
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia OMIM:620210
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve... ORPHA:324410
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormal testis morphology, Anemia ORPHA:54251
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Single transverse palmar crease, Intermittent thrombocytopenia, Se... OMIM:612541
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic ... ORPHA:465508
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Impaired neutrophil chemotaxi... OMIM:618986
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Ataxia-Telangiectasia
Lymphopenia, Diabetes mellitus, Polycystic ovaries, Type II diabetes mellitus, Delayed puberty, A... ORPHA:100
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Hypospadias, Fractured radius, Cardiomegaly, Decreased fi... OMIM:616897
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyse... OMIM:613320
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... ORPHA:3226
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Thrombocytopenia, Reticulocytopeni... ORPHA:508542
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Incontinentia Pigmenti
Eosinophilia, Supernumerary nipple, Leukocytosis, Breast aplasia, Hypoplastic nipples, Breast hyp... OMIM:308300
Mulibrey Nanism
Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Pericardial con... OMIM:253250
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Mogs-Cdg
Atrial septal defect, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly... ORPHA:79330
Igg4-Related Submandibular Gland Disease
Eosinophilia, Abnormality of the thyroid gland, Prostatitis, Enlarged lacrimal glands, Abnormal p... ORPHA:449432
Lymphangiectasia, Intestinal
Stillbirth, Lymphopenia OMIM:152800
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Femoral bowing, Short long bone, Hypop... OMIM:617022
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph... OMIM:250250
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... OMIM:614868
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Cutaneous syndactyly, Tetralogy of Fallo... OMIM:601005
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Bilateral single transverse palmar creases ORPHA:1116
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Schimke Immunoosseous Dysplasia
Pancytopenia, Bilateral cryptorchidism, Thrombocytopenia, Elevated circulating thyroid-stimulatin... OMIM:242900
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Patent foramen o... OMIM:245600
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Noonan Syndrome 14
Scapular winging, Cryptorchidism, Clinodactyly, Mitral valve prolapse, Deep palmar crease, Pulmon... OMIM:619745
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... ORPHA:75565
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Igg4-Related Ophthalmic Disease
Eosinophilia, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroidi... ORPHA:449563
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Talipes equinovarus, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Igg4-Related Pachymeningitis
Eosinophilia, Parotitis ORPHA:449427
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cardiomega... OMIM:618143
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy OMIM:212140
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... ORPHA:1517
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Lethal Acantholytic Erosive Disorder
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5... ORPHA:158687
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Myocarditis, Leukocytosis, Bone marrow hy... ORPHA:829
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At... OMIM:306955
Sarcoidosis
Hepatomegaly, Hemolytic anemia, Hyperthyroidism, Diabetes insipidus, Eosinophilia, Abnormal repro... ORPHA:797
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... ORPHA:439
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Premature ovarian insufficiency, 2-3 toe syndactyly ORPHA:391307
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia OMIM:605309
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Reni Syndrome
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Lymphopenia, Hypothyroidism OMIM:617575
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Cryptorchidism, Clinodactyly, Dilated cardiomyopathy, Limb undergrowth, Microp... OMIM:616541
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Lymphopenia, Neutropenia OMIM:616395
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor... ORPHA:3472
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... ORPHA:906
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Abnormality of the anterior pituitary, Thyroiditis, Sialadenitis, Pro... ORPHA:449395
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Refsum Disease, Classic
Cardiomyopathy, Short fourth metatarsal, Cardiomegaly OMIM:266500
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... OMIM:619767
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Long toe, Ventricular septal de... OMIM:619472
Lesch-Nyhan Syndrome
Testicular atrophy, Hip dislocation, Megaloblastic anemia OMIM:300322
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Neonatal death, A... OMIM:608013
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circ... ORPHA:276
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Hypoplastic scapulae, Cardiomegaly, Coxa valga, Splenomegaly, Metaphyseal widening,... OMIM:252500
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... OMIM:243150
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Thenar muscle atrophy, Thin metatarsal c... ORPHA:2463
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Anemia, Finger swelling, Lymphopenia, Thrombocytopenia OMIM:617591
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphopenia OMIM:616100
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly OMIM:268800
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Tapered toe, Cardiomegaly, Tapered finger, Long fingers, Dilated cardiomy... OMIM:608836
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia OMIM:620306
Beck-Fahrner Syndrome
Hip dysplasia, Ventricular septal defect, Cardiomegaly OMIM:618798
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cyst, Ovaria... OMIM:158350
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism OMIM:617713
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Abnormality of the hand, Leukocytosis, Dilated cardiomyopat... ORPHA:3243
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... ORPHA:760
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Tapered finger, Cryptorchidism, Patent foramen ovale,... OMIM:620005
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... OMIM:300855
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Autoimmune thrombocytopenia, Short iliac bones, Metaphyseal sclerosis, Met... OMIM:607944
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Microcy... OMIM:256040
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis OMIM:249100
Primary Intestinal Lymphangiectasia
Pericardial effusion, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced proporti... ORPHA:90362
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Diabetes mellitus, Leukocytosis, Leukopenia, Increased circulating procalcitonin co... ORPHA:36238
Fucosidosis
Hepatomegaly, Coxa valga, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes OMIM:230000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Cardiomegaly OMIM:105210
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Th... ORPHA:391487
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Cardiomegaly, ... ORPHA:268
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Vici Syndrome
Lymphopenia, Left ventricular hypertrophy, Dilated cardiomyopathy, Decreased proportion of CD4-po... OMIM:242840
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... OMIM:300967
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... ORPHA:3384
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Hepatosplenomegal... OMIM:615688
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Lymphopenia, Long fibula, Anemia ORPHA:935
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Neutropenia, Clinodactyly, Lymphopenia, Patent foramen ovale, Anemia OMIM:618460
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Talipes equinovarus, Hypothyroidism,... ORPHA:14
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... OMIM:127550
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Aortic valve st... ORPHA:2306
Primary Sclerosing Cholangitis
Hepatomegaly, Abnormal eosinophil morphology, Splenomegaly, Thyroiditis, Hepatosplenomegaly, Palm... ORPHA:171
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Hepatomegaly, Neutrophilia, Abscess OMIM:612852
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... ORPHA:96191
Whim Syndrome
Lymphopenia, Abnormal neutrophil morphology, Neutropenia, Cervix cancer, Tetralogy of Fallot, Par... ORPHA:51636
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Syndromic Diarrhea
Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean plate... ORPHA:84064
Fucosidosis
Hepatomegaly, Hypothyroidism, Cardiomegaly ORPHA:349
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Familial Aortic Dissection
Cardiomegaly ORPHA:229
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Arachnodactyly, Cryptorchidism, Slender toe, Abnormality of the Leydig cel... ORPHA:3063
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... OMIM:614921
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Abnormal spermatogenesis, T lymphocytopenia, Acute lympho... OMIM:208900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Overlapping toe, Microcytic anemia, Leukocytosis, Broad palm, Limb un... ORPHA:99843
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... OMIM:130650
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, Ge... ORPHA:581
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Liver Disease, Severe Congenital
Hepatomegaly, Hypospadias, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Bili... OMIM:619991
Bohring-Opitz Syndrome
Ulnar deviation of the wrist, Cardiomegaly, Bilateral wrist flexion contracture, Fixed elbow flex... ORPHA:97297
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Lymphopenia, Autoim... OMIM:619573
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Abnormal palm... OMIM:214800
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Polycythemia, Cardiomegaly, Cryptorchidism, Adrenocortic... ORPHA:116
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Aicardi-Goutières Syndrome
Diabetes mellitus, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chroni... ORPHA:51
Singleton-Merten Syndrome 1
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... OMIM:182250
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly ORPHA:228308
Hyper-Igd Syndrome
Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly OMIM:260920
Dermatomyositis
Myocarditis, Pericarditis, Abnormal eosinophil morphology ORPHA:221
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Arachnodactyly, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Atrial septal defect, Clinodactyly of t... ORPHA:904
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Orchitis, Pericardial effusion, Splenomegaly, Epididymi... ORPHA:99827
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries ORPHA:137675
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:365
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Myocardial ca... ORPHA:51608

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 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
Zfp474tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Zfp474tm279483(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zfp474tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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