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Gene: Zbtb46 MGI:1919397

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Gene Summary

Name:
zinc finger and BTB domain containing 46
Synonyms:
Btbd4,  4933406L05Rik,  2610019F01Rik

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
abnormal heart morphology Zbtb46tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal testis morphology Zbtb46tm1.1(KOMP)Vlcg HET Early adult 0.00
small testis Zbtb46tm1.1(KOMP)Vlcg HET Early adult 0.00
enlarged heart Zbtb46tm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, incomplete penetrance Zbtb46tm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 50% (1 of 2)
Brainstem  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Section

18 Images

View images

Human diseases caused by Zbtb46 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 Zbtb46 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Recurrent gastroenteritis, Lymphopenia, D... OMIM:615615
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infec... OMIM:202700
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Decreased lymphocyte proliferation i... OMIM:615592
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... OMIM:615897
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Increased circulating antibody ... OMIM:614470
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Candida... OMIM:619281
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Recurrent bacterial infections, Abnormal neutrophil count, Helicobact... ORPHA:2688
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Ethanolaminosis
Cardiomegaly OMIM:227150
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Myelolymphatic Insufficiency
Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis, Recurrent infections OMIM:235900
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Recurrent respiratory infections, Ag... OMIM:615214
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Recurrent bacterial infections... OMIM:606843
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis... OMIM:613501
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Neutropenia, Monocytopenia ORPHA:86788
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia, Decreased circul... OMIM:242870
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent streptococcus pneumoniae infections, Recur... ORPHA:70592
Whim Syndrome 2
Chronic neutropenia, Recurrent gingivitis, Severe infection OMIM:619407
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Recurrent bacterial infections, Recurrent viral infections, Neutropenia, Recurrent f... OMIM:614868
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent EBV viremia, Decreased CD4:CD8 ratio, Severe varicella zoster infection, Decreased T c... OMIM:300853
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis OMIM:616871
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent otitis media, Recurrent pn... OMIM:613502
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... OMIM:616022
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... OMIM:614493
Reticuloendotheliosis, X-Linked
Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Recurrent bacterial i... OMIM:245480
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Absent ci... OMIM:619707
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Post-vaccination polio, Recurrent otitis media, Recurrent infections, Agammagl... OMIM:616941
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, Sepsis, Severe varicella zoster infection, T lymphocytopenia, Monocytopenia, B lympho... OMIM:618986
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Immunodeficiency 46
Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent sinopulmonary i... OMIM:616740
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Acute myeloid leukemia, Acute lymphoblastic leukemia, Recurrent sinopul... ORPHA:486
Immunodeficiency 20
Reduced natural killer cell count, Severe varicella zoster infection, BCGitis, Reduced natural ki... OMIM:615707
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, BCGitis, Neutrophilia, Recurrent infection... OMIM:226990
Testicular Anomalies With Or Without Congenital Heart Disease
Ambiguous genitalia, Perineal hypospadias, Microphallus, Abnormality of thyroid physiology, Corpu... OMIM:615542
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Recurrent infections, Splenomegaly OMIM:606445
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Recurrent ... OMIM:607271
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... OMIM:614840
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Recurrent infections, Extramedullary he... OMIM:615285
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent respiratory infections, Re... OMIM:613500
Immunodeficiency 91 And Hyperinflammation
Extrapulmonary tuberculosis, Neutrophilia, Severe viral infection, Hepatosplenomegaly, Recurrent ... OMIM:619644
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect, Cryptorchidism DECIPHER:39
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Whim Syndrome 1
Decreased circulating antibody level, Recurrent bacterial infections, Recurrent upper respiratory... OMIM:193670
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent lower respiratory tract infections, Recurrent oral herpes, Neutropenia in presence of a... OMIM:619220
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Lack of T cell function, T lymphocytopenia, B lymphocytopenia... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
Immunodeficiency 67
Liver abscess, Recurrent staphylococcal infections, Recurrent streptococcal infections, Increased... OMIM:607676
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positi... ORPHA:572
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Neutropenia, Infectious encephalitis, Recurrent urinary tract infection... OMIM:209920
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG... OMIM:233650
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD4-positive helper ... ORPHA:169154
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:240500
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... OMIM:620135
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphade... ORPHA:444463
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... OMIM:619846
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... ORPHA:859
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Eosinophilia ORPHA:482
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Immunodeficiency 32A
Granuloma, Lymphadenopathy, Lymphadenitis OMIM:614893
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Lymphoproliferative Syndrome, X-Linked, 1
Severe Epstein Barr virus infection, Infectious encephalitis, Recurrent respiratory infections, R... OMIM:308240
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Recurrent lower respiratory tract infe... OMIM:618534
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Recur... OMIM:600802
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... OMIM:300400
Immunodeficiency 66
Defective T cell proliferation, Meningitis, Sepsis OMIM:618847
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Recurrent enteroviral infections, Decreased circulating total... ORPHA:331206
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Pyoderma, Recurrent bronchopulmonary infections, Abnormally low T cell recepto... OMIM:242700
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Immunodeficiency 102
Recurrent sinusitis, Decreased proportion of CD4-positive helper T cells, Partial absence of spec... OMIM:301082
Trimethylaminuria
Recurrent pneumonia, Anemia, Neutropenia, Splenomegaly OMIM:602079
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Decreased circulating t... ORPHA:35078
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Immunodeficiency With Hyper-Igm, Type 1
Meningitis, Thrombocytopenia, Impaired memory B cell generation, Splenomegaly, Sepsis, Decreased ... OMIM:308230
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Recurrent respiratory infections,... OMIM:612541
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Recurrent respiratory infections, B lymphocytopenia, Decreased circulat... OMIM:601495
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, B lymphocytopenia, Pneumocystis jirovecii pneumonia, Recurrent otitis m... OMIM:301078
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Thymic Aplasia
Opportunistic infection, T lymphocytopenia, Decreased lymphocyte proliferation in response to mit... ORPHA:83471
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:66661
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Decreased lymphocyte proliferation in response to mitogen, Re... OMIM:613179
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... OMIM:601859
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Acute lymphoblastic leukemia OMIM:610738
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:603552
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly OMIM:618982
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Recurrent respiratory infections, Decreased circula... ORPHA:2643
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, B lymphocytopenia, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurre... OMIM:150550
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... OMIM:617241
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Recurrent abscess formation, Hyposegmentation of neutrophil nuclei OMIM:260570
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Bronchiolitis, Neutrophilia, Recurrent otitis media OMIM:266265
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Chronic infection, Norm... ORPHA:75564
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly OMIM:613101
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Mu-Heavy Chain Disease
Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Immunodeficiency 7
Hypereosinophilia, Persistent EBV viremia, Severe varicella zoster infection, Recurrent respirato... OMIM:615387
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... OMIM:619752
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hepatomegaly, Hypogonadotropic hyp... OMIM:235200
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... ORPHA:276
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Attrv30M Amyloidosis
Cardiomegaly, Impotence, Cardiomyopathy ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Recurrent infections, Throm... ORPHA:88
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen, Decreased proportion of CD4-positive h... ORPHA:543
Bone Marrow Failure Syndrome 6
Anemia, Recurrent sinusitis, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularit... OMIM:618849
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... OMIM:618652
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Brain abscess, Liver abscess, Neutrophilia, Abnormality o... ORPHA:54251
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, B lymphocytopenia, Absent circulating B cells, Agammaglobulinemi... OMIM:619705
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocy... ORPHA:3226
Wiskott-Aldrich Syndrome
Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper T cells, Thrombocy... OMIM:301000
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Pgm3-Cdg
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Bone marrow hypocellularity, Eo... ORPHA:443811
Immunodeficiency 40
Severe varicella zoster infection, T lymphocytopenia, Chronic oral candidiasis, Reduced antigen-s... OMIM:616433
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Severe varicella zoster infection, Decreased T cell activation, Perianal abscess, Candida esophag... OMIM:618213
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level, Recurrent otitis media, Hepato... ORPHA:353298
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Immunodeficiency 23
Molluscum contagiosum, Persistent EBV viremia, Severe varicella zoster infection, Hemolytic anemi... OMIM:615816
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... OMIM:300835
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma ORPHA:615
Timothy Syndrome
Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot OMIM:601005
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Hepatos... OMIM:301081
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Pneumocystosis
Increased circulating antibody level, Pneumocystis jirovecii pneumonia, Abnormal neutrophil count... ORPHA:723
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... ORPHA:324410
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Lymphocytosis, Decreased proportion of CD8-positiv... ORPHA:911
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Invasive fungal ... ORPHA:158048
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Hepatom... ORPHA:465508
Hereditary Orotic Aciduria
Anemia, Recurrent respiratory infections, Impaired T cell function, Splenomegaly ORPHA:30
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Fixed Subaortic Stenosis
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... ORPHA:3092
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency 58
Decreased T cell activation, Recurrent respiratory infections, Decreased circulating antibody lev... OMIM:618131
Hyper-Igd Syndrome
Chronic oral candidiasis, Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Incr... OMIM:260920
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level OMIM:618838
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Decreased... OMIM:275350
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertrophic cardi... ORPHA:85451
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Adult-Onset Still Disease
Neutrophilia, Recurrent pharyngitis, Meningitis, Bone marrow hypocellularity, Leukocytosis, Splen... ORPHA:829
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Recurrent infections, Neutropenia OMIM:258360
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Decreased T cell activation, Decreased proportion o... ORPHA:66628
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio... OMIM:258900
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... OMIM:115197
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Decreased T cell activation, Decreased proportion o... ORPHA:179494
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:212140
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Recurrent infections, Thrombocytopenia, Decreased specifi... OMIM:614576
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Coronary Arterial Fistula
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... ORPHA:2041
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Cardiomyopathy OMIM:222300
Schimke Immuno-Osseous Dysplasia
Anemia, Lymphopenia, Abnormal lymphocyte physiology, Impaired T cell function, Bone marrow hypoce... ORPHA:1830
Neuraminidase Deficiency
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:256550
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252920
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Staphylococcal Necrotizing Pneumonia
Leukopenia, Severe infection, Neutrophilia, Leukocytosis, Sepsis ORPHA:36238
Vici Syndrome
Leukopenia, T lymphocytopenia, Decreased T cell activation, Recurrent respiratory infections, Dec... OMIM:242840
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Cantu Syndrome
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve OMIM:239850
Whim Syndrome
Abnormality of neutrophil morphology, Decreased circulating antibody level, Lymphopenia, Recurren... ORPHA:51636
Mogs-Cdg
Hypothyroidism, External genital hypoplasia, Left ventricular hypertrophy, Hydrocele testis, Atri... ORPHA:79330
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypospadias, Cardiomegaly, Micropenis OMIM:616897
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Impotence, Cardiomyopathy OMIM:105210
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... ORPHA:439
Aorta Coarctation
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... ORPHA:1457
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Impaired T cell function, Splenomegaly OMIM:201100
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... OMIM:231005
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Leukocyte Adhesion Deficiency Type Ii
Anemia, Abnormal isohemagglutinin level, Recurrent urinary tract infections, Neutrophilia, Recurr... ORPHA:99843
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Ventricular septal ... OMIM:602782
Aarskog-Scott Syndrome
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... OMIM:305400
Sickle Cell Disease
Priapism, Hepatomegaly, Cholelithiasis, Cardiomegaly, Splenomegaly OMIM:603903
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... OMIM:306955
Relapsing Fever
Leukopenia, Anemia, Neutrophilia, Leukocytosis, Thrombocytopenia ORPHA:91547
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Labi... ORPHA:96191
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:201475
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Sweet Syndrome
Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Recurr... ORPHA:3243
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Beckwith-Wiedemann Syndrome
Gonadoblastoma, Pancreatic hyperplasia, Adrenocortical carcinoma, Enlarged kidney, Hepatomegaly, ... OMIM:130650
Craniofaciofrontodigital Syndrome
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... ORPHA:363705
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... ORPHA:1329
Fucosidosis
Cardiomegaly, Hypothyroidism, Hepatomegaly ORPHA:349
Sandhoff Disease
Cardiomegaly, Impotence, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Cirrhotic Cardiomyopathy
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... ORPHA:57777
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Danon Disease
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... OMIM:300257
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect OMIM:617022
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly, Cryptorchidism OMIM:618143
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Dilated cardiomyopathy, Delayed puberty, Decreased serum insulin-like ... OMIM:614921
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... OMIM:157640
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... ORPHA:3384
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... OMIM:261740
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Pineal cyst, Atrial septal defect, Left ventricu... OMIM:300967
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:608836
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly ORPHA:308552
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:608013
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:230000
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Abscess OMIM:612852
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy ORPHA:228308
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... ORPHA:95430
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormality of the thymus, Cardiomegaly ORPHA:2463
Ogden Syndrome
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Decrea... OMIM:300855
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... ORPHA:1677
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Histiocytoid Cardiomyopathy
Cardiomegaly, Polycystic ovaries, Ventricular septal defect, Hepatomegaly ORPHA:137675
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, S... ORPHA:581
Familial Mediterranean Fever
Neutrophilia, Meningitis, Splenomegaly, Leukocytosis OMIM:249100
Beckwith-Wiedemann Syndrome
Hypothyroidism, Gonadoblastoma, Adrenocortical carcinoma, Enlarged kidney, Hypertrophic cardiomyo... ORPHA:116
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism ORPHA:3063
Steinert Myotonic Dystrophy
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... ORPHA:273
Bohring-Opitz Syndrome
Cardiomegaly, Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas ORPHA:97297
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252500
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... ORPHA:99125
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:618278
Yunis-Varon Syndrome
Ventricular septal defect, Hypoplastic labia majora, Atrial septal defect, Hypospadias, Cryptorch... ORPHA:3472
Aicardi-Goutières Syndrome
Hypothyroidism, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Diabetes mellitus, Cardiomegaly,... ORPHA:51
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Patent foramen ovale, Pancreatic hypoplasia, Dilatation of the ventr... OMIM:619991
Abetalipoproteinemia
Cardiomegaly, Hypothyroidism, Hepatomegaly ORPHA:14
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Williams Syndrome
Hypothyroidism, Precocious puberty, Functional abnormality of male internal genitalia, Abnormal c... ORPHA:904
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly, Pancytopenia OMIM:181000
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly ORPHA:365
Yellow Fever
Opportunistic infection, Neutrophilia, Increased circulating IgM level, Leukocytosis, Thrombocyto... ORPHA:99829
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Epididymi... OMIM:256040
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... ORPHA:75565
Digeorge Syndrome
Anemia, Hypoplasia of the thymus, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumoni... OMIM:188400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
22Q11.2 Deletion Syndrome
Impaired T cell function, Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly ORPHA:567
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pancreatic calcification, Pericardial effusion, Myocardial calcification... ORPHA:51608
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... OMIM:182250

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 Zbtb46

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 Zbtb46.

No publications found that use IMPC mice or data for Zbtb46.

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MGI Allele Allele Type Produced
Zbtb46tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Zbtb46tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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