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Gene: Zdhhc2 MGI:1923452

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Gene Summary

Name:
zinc finger, DHHC domain containing 2
Synonyms:
6430583A19Rik,  5730415P04Rik

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 fasting circulating glucose level Zdhhc2tm1b(KOMP)Wtsi HOM Early adult 3.81×10-06
dilated heart left ventricle Zdhhc2tm1b(KOMP)Wtsi HOM Early adult 1.64×10-07
abnormal lip morphology Zdhhc2tm1b(KOMP)Wtsi HOM Early adult 1.94×10-11

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zdhhc2 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 Zdhhc2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Defective T cell proliferat... OMIM:615615
Immunodeficiency 50
Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Decreased proportion of class-switched memory B cells, Increased circulating i... OMIM:618944
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Pneumonia, Chronic furunculosis, Chronic oral candidiasis, Recurre... OMIM:613953
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Lack of T cell function, Recu... ORPHA:277
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... OMIM:300400
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportio... OMIM:614493
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... OMIM:312863
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Acne, Decreased circulatin... OMIM:300635
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Splenomegaly OMIM:269840
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Recurrent otitis media, Decrease... OMIM:300853
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, B lymphocytopenia, Sinusitis, Decreased specific antibody response to polysacc... ORPHA:70593
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Neutropenia ... OMIM:607594
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... OMIM:618108
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Chronic myelomonocyti... ORPHA:90280
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circul... OMIM:617241
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Pneumonia, T lymphocytopenia, Atopic dermat... OMIM:618806
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Pneumonia, Splenomegaly, Otitis media, T lymphocytopenia OMIM:608971
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Sinusitis, Neutropenia, Lack of T cell function, Neutropenia in presence ... ORPHA:572
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Th... OMIM:618116
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... OMIM:618987
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Megaloblastic anemia, Decreased circulating antibody l... OMIM:617780
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Decreased circulating total IgA, Pneumonia, Chronic oral candidiasis, Hepatitis, De... ORPHA:169160
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, Lack of T... ORPHA:35078
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Recurrent skin infections, Recurrent pneumo... OMIM:616576
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopa... ORPHA:79147
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Bronchiectasis, Increased circulating IgA... OMIM:618534
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Pneumonia, Decreased circulating IgA level, Abnormal immun... ORPHA:276
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... OMIM:616100
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Elevated circulating C-reactive ... OMIM:604416
Immunodeficiency 17
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti... OMIM:615607
Reticular Dysgenesis
Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash, Abnorm... ORPHA:33355
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Autoimmune thro... OMIM:614470
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... ORPHA:217390
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B ... OMIM:606843
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... OMIM:600802
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Elevated circula... OMIM:611762
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Erythroderma, Increased circulating IgA level, Decreased lymphocyte proliferation in... ORPHA:169154
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Partial absence of spe... OMIM:618986
Schnitzler Syndrome
Leukocytosis, Pruritus, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Skin rash ORPHA:37748
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Infectious encephalitis, Decreased circulating IgG level, Fulminant hepatitis, Decre... OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Skin rash, Throm... OMIM:603552
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural kill... OMIM:616050
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Immunodeficiency, Common Variable, 2
Bronchiectasis, Decreased circulating IgA level, Impaired T cell function, Decreased circulating ... OMIM:240500
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Decre... ORPHA:275
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Skin rash OMIM:618048
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Abnormal heart morphology, Maturity-onset diabetes of the young... ORPHA:99886
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid le... OMIM:616871
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymu... OMIM:242700
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Arthritis, Uveitis, Skin rash, Elevated circulating C-reactive protein concentratio... OMIM:120100
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Lymphoproliferative Syndrome 1
Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulating antibody level, An... OMIM:613011
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Stomatitis, Chronic hepatitis, Decreased circulating IgA level, Decreased circulatin... OMIM:308230
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... OMIM:618282
Tularemia
Brain abscess, Leukocytosis, Pneumonia, Anemia, Increased circulating antibody level, Otitis medi... ORPHA:3392
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr... OMIM:147060
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Decreased cir... OMIM:606367
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Pann... OMIM:617099
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Eosin... OMIM:618523
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Pgm3-Cdg
Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... ORPHA:443811
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Parakeratosis, Neutr... OMIM:614204
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Iga Pemphigus
Pustule, Acantholysis, Increased circulating IgA level, Pruritus, Neutrophilic infiltration of th... ORPHA:555905
Cinca Syndrome
Leukocytosis, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinophilia, Elevated c... OMIM:607115
Acute Erythroid Leukemia
Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Erythroder... ORPHA:540
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutropenia, Cutaneous anergy, Chronic ... OMIM:209920
Leishmaniasis
Leukopenia, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating... ORPHA:507
Autosomal Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth... ORPHA:33110
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... OMIM:612260
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Colitis, Bone marrow hypocellularity, Leukopenia OMIM:615190
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Hemolytic anemia OMIM:616744
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Anemia, Increased... OMIM:615934
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Splenomegaly, Uveitis, Decreased circulating total IgM, Panc... OMIM:614700
Immunodeficiency 31C
Eczema, Lymphopenia, Chronic mucocutaneous candidiasis, Autoimmune hemolytic anemia OMIM:614162
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, High palate, Insulin-resistant diabetes mellitus, Diabetic ke... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Downturned corners of mouth, Type I diabetes mellitus OMIM:618856
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Inflammation of the large intestine, Sterile abscess, P... ORPHA:3243
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Stomatitis, Lymphadenitis, Chronic oral candidiasis, Decreased lymphocyte proliferatio... ORPHA:911
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Hepatiti... OMIM:304790
Immunodeficiency 66
Defective T cell proliferation, Recurrent skin infections, Pustule OMIM:618847
Indolent Systemic Mastocytosis
Pruritus, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increa... ORPHA:98848
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Pericarditis, Pruritus, Hepatitis, Bone marrow hypocellularity, Arthri... ORPHA:829
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N... OMIM:301054
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
Immunodeficiency 58
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Recurrent cutaneo... OMIM:618131
X-Linked Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis... ORPHA:47
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Panniculitis, Anemia, Arthritis, Splenomegaly, Increased circulating antibod... OMIM:617591
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Erythroderma, Pneumonia, Hypoplasia of the thymus, Anemia, Sp... OMIM:603554
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Neutropenia, Decreased circulating IgG level, Chroni... OMIM:608809
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... OMIM:152700
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cell funct... OMIM:613179
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Decreased prealbumin level, Neutropenia, Tubulointerstitial nephritis, Neutropenia in pre... ORPHA:37042
Majeed Syndrome
Inflammatory abnormality of the skin, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, M... OMIM:609628
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Pruritus, Anemia, Arthritis, Acne, ... ORPHA:324964
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies, Decreased... OMIM:615952
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxid... OMIM:618935
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... OMIM:615816
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Decreased proportion of naive T cells, Pneumonia, Coombs-positi... ORPHA:83471
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Increased circulating antibody level, Acute pancreatitis, Lymphopenia, Mac... ORPHA:319218
Dengue Fever
Hypoproteinemia, Leukopenia, Pruritus, Skin rash, Thrombocytopenia ORPHA:99828
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis, Elevated circulating C-reac... ORPHA:79099
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Increased circulating interleukin 6, Panniculitis, Acne inversa, Anemia, Elevated ci... OMIM:608068
Good Syndrome
Sinusitis, Bronchiectasis, Decreased circulating antibody level, Anemia, Recurrent skin infection... ORPHA:169105
Hyper-Igd Syndrome
Leukocytosis, Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis, Arthritis... OMIM:260920
Refractory Celiac Disease
Inflammatory abnormality of the skin, Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron... ORPHA:398063
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis OMIM:613148
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Eczema, Psoriasiform dermatitis, Impaired platelet aggregation OMIM:617443
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Pneumonia, Monocytosis, Leukemia, Rhinitis, Recurrent ... ORPHA:486
Mal De Meleda
Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal perivascular i... ORPHA:87503
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy OMIM:520000
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Neutropenia, Infectious encephalitis, Leukopenia, Hepatitis, Anemia, A... ORPHA:292
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin ORPHA:542592
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Decreased proportion of class-switched memory B cells, Decreased cir... OMIM:233600
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Anterior uveitis, Splenomegaly, Juvenile rheumatoid arthritis, Skin rash, Elevated ... ORPHA:85414
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Thrombocytopenia 1
Eczema, Decreased mean platelet volume, Increased circulating IgA level, Intermittent thrombocyto... OMIM:313900
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Infectious encephalitis, Leukopenia, Reduced natural killer cell activity, Anemi... OMIM:603553
Majeed Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Abnormal inflammatory response, Pustule, Hypo... ORPHA:77297
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Impaired T cell function, Elevated circulating creatine kina... OMIM:614576
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Stomatitis, Abscess, Splenomegaly, Osteomyelitis, Neutrophilia, Skin rash, Hyperkeratosi... OMIM:612852
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Eczema, Leukopenia, Panniculitis, Anemia, Arthritis, Recurrent otit... OMIM:615688
Immunodeficiency 49
Inflammatory abnormality of the skin, Eosinophilia, Lymphopenia OMIM:617237
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Liv... ORPHA:183675
Subcorneal Pustular Dermatosis
Pruritus, Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Inters... ORPHA:139402
Immunodeficiency 82 With Systemic Inflammation
Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total IgM, Elevated ci... OMIM:619381
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Chronic mucocutaneous candidiasis, Decreased p... OMIM:242840
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, B lymphocytopenia, Eczema, Infectious encephalitis, Neutrop... ORPHA:391487
Familial Mediterranean Fever
Leukocytosis, Pericarditis, Peritonitis, Elevated circulating amyloid A, Arthritis, Splenomegaly,... OMIM:249100
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Minimal change glomerulonephritis, Impair... ORPHA:1830
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Pericarditis, Peritonitis, Myositis, Fasciitis, Arthritis, Splenomegaly, Uveitis, S... ORPHA:32960
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Leukopenia, Aplasia/... ORPHA:227990
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly OMIM:201100
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Anemia, Arthriti... ORPHA:31205
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... ORPHA:39812
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Dental crowding, Premature loss of teeth, Insulin-resistant diabetes mellitus, Hyper... OMIM:608612
Orotic Aciduria
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... OMIM:258900
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Eosinophilia, Elevated circulating C-reactive protein concentration... ORPHA:449395
B4Galt1-Cdg
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Splenom... ORPHA:79332
Uremic Pruritus
Inflammatory abnormality of the skin, Pruritus, Abnormality of serum cytokine level, Recurrent sk... ORPHA:94059
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Fasting hypoglycemia, Type II diabetes mellitus, Insulin resi... ORPHA:2298
Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Vacuola... ORPHA:565612
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Bronchiectasis, Arthritis, Splenomegaly, Iridocyclitis, Uvei... OMIM:181000
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Increased circulating Ig... ORPHA:48435
Leukocyte Adhesion Deficiency
Sinusitis, Recurrent aphthous stomatitis, Impaired platelet aggregation, Conjunctivitis, Leukocyt... ORPHA:2968
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash OMIM:617321
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Thrombocytosis, Cholangitis, Eczema, Erythrod... ORPHA:3260
Hereditary Orotic Aciduria
Impaired T cell function, Anemia, Splenomegaly ORPHA:30
Dend Syndrome
Hyperglycemia, Downturned corners of mouth, Long philtrum ORPHA:79134
Heart Defects, Congenital, And Other Congenital Anomalies
Ventricular septal defect, Truncus arteriosus, Hyperglycemia, Hypoplastic tricuspid valve, Double... OMIM:600001
22Q11.2 Deletion Syndrome
Impaired T cell function, Chronic otitis media, Seborrheic dermatitis, Hypoplasia of the thymus, ... ORPHA:567
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology ORPHA:2237
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Neutropenia, Acantholysis, Pneu... ORPHA:95455
Progeroid Short Stature With Pigmented Nevi
Allergic conjunctivitis, Allergic rhinitis, Impaired T cell function OMIM:176690
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Digeorge Syndrome
Seborrheic dermatitis, Acne, Impaired T cell function OMIM:188400

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 Zdhhc2

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 Zdhhc2.

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

Title Journal IMPC Allele PubMed ID
S-Acylation controls functional coupling of BK channel pore-forming α-subunits and β1-subunits. The Journal of biological chemistry (June 2019) Zdhhc23tm1(KOMP)Vlcg PMC6690687

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MGI Allele Allele Type Produced
Zdhhc2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Zdhhc2tm44582(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zdhhc2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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