Gene Summary

Name:
calcineurin binding protein 1
Synonyms:
Ppp3in,  Cain,  A330070M20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Cabin1em1(IMPC)Ccpcz HET Early adult 0.00
enlarged thymus Cabin1em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Cabin1em1(IMPC)Ccpcz HOM   Early adult 0.00
enlarged heart Cabin1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal thymus morphology Cabin1em1(IMPC)Ccpcz HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Hind Leg and Hip

28 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Human diseases caused by Cabin1 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 Cabin1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgG level OMIM:618944
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased specifi... OMIM:615897
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Immunodeficiency 25
Increased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:605258
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increased circul... OMIM:617241
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Redu... OMIM:300400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function ORPHA:277
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:619707
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgE level OMIM:619632
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:613502
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level OMIM:618523
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:619752
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:859
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgG4 level, Complement deficiency, In... ORPHA:449400
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level OMIM:618495
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level OMIM:147060
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:612692
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency 14A, Autosomal Dominant
Decreased circulating IgG2 level, Decreased specific pneumococcal antibody level, Increased circu... OMIM:615513
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgG level, Increased circulating IgE level OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgG level, Increased circulating IgA level, Increased circulating antibody ... ORPHA:169154
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgE, Decr... OMIM:618394
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:601859
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level OMIM:313900
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating IgE, Decr... OMIM:619510
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased circulating total IgA... OMIM:618969
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level OMIM:618048
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:611926
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Reduced natural killer cell act... OMIM:619281
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Decreased... OMIM:606367
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Decreased circulating IgA level, Partial absence of specific ant... OMIM:240500
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:607594
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Absent specific antibody respon... OMIM:102700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Caffey Disease
Increased circulating antibody level ORPHA:1310
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level OMIM:304790
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level OMIM:615816
Igg4-Related Submandibular Gland Disease
Increased circulating IgG level, Increased circulating IgG4 level, Increased circulating antibody... ORPHA:449432
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Decreased specific anti-polysac... OMIM:600903
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Increased circulating IgG level, Abnormal immunoglobulin level, ... ORPHA:276
Aspergillosis
Increased circulating IgE level ORPHA:1163
Congenital Toxoplasmosis
Hepatomegaly, Anemia, Lymphadenopathy, Cardiomegaly, Thrombocytopenia ORPHA:858
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Reduced natural killer cell activity, Increased circulating IgM ... OMIM:308240
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level OMIM:617388
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis OMIM:614470
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level ORPHA:2314
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level OMIM:615846
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Angiostrongyliasis
Increased circulating IgA level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Defective T cell proliferation, Increased circulating IgE level, Inc... OMIM:618213
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia OMIM:619705
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level OMIM:600351
Pgm3-Cdg
Reduced antigen-specific T cell proliferation, Increased circulating IgG level, Bone marrow hypoc... ORPHA:443811
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Abnormal circulating interleuki... ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating IgG level, Decreased circulating tota... ORPHA:169160
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes OMIM:269920
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating antibody ... ORPHA:508533
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Biventricular hypertrophy, Abnormal mi... ORPHA:860
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, ... OMIM:618652
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
C3 Glomerulopathy
Decreased serum complement C4, Decreased serum complement C3, Paraproteinemia ORPHA:329918
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Increased ... ORPHA:91139
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Reduced natural killer cell activity, Increased circulating antibo... OMIM:615559
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:616100
Neuraminidase Deficiency
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Cardiomyopathy, Cardi... OMIM:256550
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Anemia, Restrictive cardiomyopathy, Cardiomegal... ORPHA:85451
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Increased circulating IgG level OMIM:615934
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level ORPHA:2137
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomega... OMIM:231005
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Increased circulating IgA level, Decreased specific anti-polysac... OMIM:301000
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Agam... OMIM:300755
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:615577
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Lead Poisoning
Abnormality of humoral immunity, Increased circulating IgE level ORPHA:330015
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Immunodeficiency 92
Decreased circulating IgG level, Abnormal B cell proliferation, Partial absence of specific antib... OMIM:619652
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale OMIM:601005
Igg4-Related Kidney Disease
Decreased serum complement C4, Increased circulating IgG1 level, Increased circulating IgG level,... ORPHA:449395
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Anemia, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Hepatomegaly, H... OMIM:603903
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:275350
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Cardiomegaly, Ventricular septal defect, Overriding aorta OMIM:617022
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis OMIM:212140
Trichinellosis
Increased circulating IgE level ORPHA:863
Hemochromatosis, Type 1
Splenomegaly, Hepatomegaly, Testicular atrophy, Cardiomyopathy, Cardiomegaly OMIM:235200
Multiple Myeloma
Increased circulating IgA level, Increased circulating IgG level, Decreased circulating antibody ... ORPHA:29073
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... ORPHA:331206
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level ORPHA:37042
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, Cardiomegaly, ... ORPHA:324410
Leishmaniasis
Increased circulating antibody level ORPHA:507
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular hypertrophy OMIM:619051
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA ORPHA:555905
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Increased circulating IgE level ORPHA:449563
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Tularemia
Increased circulating antibody level ORPHA:3392
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level OMIM:608809
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgG level, Increased circulating IgM l... ORPHA:297
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Reduced n... ORPHA:540
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:613011
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part... OMIM:618986
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Pneumocystosis
Increased circulating antibody level ORPHA:723
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:178320
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Insulin-Resistance Syndrome Type B
Increased circulating IgA level, Decreased serum complement factor B, Increased circulating IgG l... ORPHA:2298
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Partial IgA deficiency, Lack of... ORPHA:35078
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... ORPHA:90362
Prolidase Deficiency
Increased circulating antibody level OMIM:170100
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Complement deficiency ORPHA:449427
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Atrial septal defect, Pancreatic hypoplasia, Splenomegaly, Cer... OMIM:602782
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:210900
Symptomatic Form Of Hemochromatosis Type 1
Splenomegaly, Hepatomegaly, Testicular atrophy, Cardiomyopathy, Cardiomegaly ORPHA:465508
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Hepatomegaly, Chronic hemolytic anemia, Hemolytic... OMIM:618278
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:201475
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:261740
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616897
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Atrial septal defect, Ventricular septal defect, Bicuspid aortic... ORPHA:363705
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes OMIM:230000
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Lassa Fever
Increased circulating IgM level ORPHA:99824
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Atrial septal defect, P... ORPHA:3384
Mogs-Cdg
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Cardiomegal... ORPHA:79330
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:612301
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:614700
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased circulating IgA leve... OMIM:208900
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cardiomegaly, Thrombocytopenia OMIM:608013
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating IgA level, Increased circulating IgG ... OMIM:256040
Sandhoff Disease
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly OMIM:268800
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgG2 level, C... OMIM:242840
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Increased circulating IgG4 level, Increased circulating IgM level ORPHA:79078
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased circulating total IgG, Decreased circulating antibody ... ORPHA:221139
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Left atrial e... ORPHA:57777
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level OMIM:617591
Scleromyxedema
Paraproteinemia ORPHA:167635
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level OMIM:619472
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Alg12-Cdg
Abnormal circulating IgA level, Partial absence of specific antibody response to Haemophilus infl... ORPHA:79324
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
X-Linked Lymphoproliferative Disease
Decreased circulating IgG level, Decreased circulating total IgM, Bone marrow hypocellularity, In... ORPHA:2442
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Immunodeficiency 47
Decreased circulating total IgM, Chronic decreased circulating total IgG, Decreased circulating t... OMIM:300972
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Increased circulating IgM level OMIM:617303
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Brucellosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:1304
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:79329
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy, Hepatomegaly OMIM:608836
Hyper-Igd Syndrome
Increased circulating IgA level, Increased circulating IgD level OMIM:260920
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Cardiomegaly, Hepatomegaly OMIM:618143
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... ORPHA:183675
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly OMIM:252500
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect OMIM:614921
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Left ventricular... OMIM:245600
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Pineal cyst, Patent foramen ovale, Cryptorchidism, Atrial septal ... OMIM:300967
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy, Hepatomegaly ORPHA:228308
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Abnormal heart morphology, Trunc... ORPHA:980
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM ORPHA:420741
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Abnormal mitral valve morphology, Splenomegaly, Abnormal aortic v... ORPHA:581
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Say-Barber-Miller Syndrome
Impaired neutrophil chemotaxis, Decreased circulating IgG level, Transient hypogammaglobulinemia ... ORPHA:3132
Congenital Tracheomalacia
Tetralogy of Fallot, Atrial septal defect, Partial anomalous pulmonary venous return, Abnormal he... ORPHA:95430
Mevalonic Aciduria
Increased circulating IgD level OMIM:610377
Selective Igm Deficiency
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Paraprotein... ORPHA:331235
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, ... ORPHA:1677
Japanese Encephalitis
Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level ORPHA:91500
Q Fever
Increased circulating antibody level, Cryoglobulinemia ORPHA:781
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... ORPHA:125
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Increased circulating IgM level ORPHA:505248
Cysticercosis
Increased circulating antibody level ORPHA:1560
Gaucher Disease Type 3
Increased circulating antibody level ORPHA:77261
Beckwith-Wiedemann Syndrome
Enlarged kidney, Cryptorchidism, Pancreatic hyperplasia, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:130650
Abetalipoproteinemia
Hepatomegaly, Acanthocytosis, Anemia, Reticulocytosis, Cardiomegaly ORPHA:14
Bohring-Opitz Syndrome
Cholelithiasis, Cardiomegaly, Annular pancreas, Abnormal cardiac septum morphology ORPHA:97297
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level OMIM:223370
Postinfectious Vasculitis
Increased circulating antibody level, Increased circulating IgA level, Abnormality of humoral imm... ORPHA:48435
Congenital Total Pulmonary Venous Return Anomaly
Atrial septal defect, Supracardiac total anomalous pulmonary venous connection, Mixed total anoma... ORPHA:99125
Tropical Endomyocardial Fibrosis
Eosinophilia, Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Res... ORPHA:75565
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect, Polycystic ovaries ORPHA:137675
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines OMIM:612132
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Primary Sjögren Syndrome
Decreased serum complement C4, Decreased circulating antibody level, Increased circulating antibo... ORPHA:289390
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Neonatal alloimmune thrombocytopenia, Cardiomega... ORPHA:51
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Beckwith-Wiedemann Syndrome
Enlarged kidney, Pseudohypoparathyroidism, Cryptorchidism, Abnormal pancreas morphology, Hypertro... ORPHA:116
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:365
Lysinuric Protein Intolerance
Increased circulating antibody level, Abnormality of humoral immunity, Complement deficiency, Dec... ORPHA:470
Proteus Syndrome
Testicular neoplasm, Splenomegaly, Ovarian neoplasm, Thymus hyperplasia, Enlarged polycystic ovar... ORPHA:744
Gaucher Disease
Increased circulating antibody level ORPHA:355
Yunis-Varon Syndrome
Tetralogy of Fallot, Cryptorchidism, Atrial septal defect, Cardiomyopathy, Ventricular septal def... ORPHA:3472
Williams Syndrome
Cholelithiasis, Abnormal endocardium morphology, Tetralogy of Fallot, Overriding aorta, Polycysti... ORPHA:904
Yellow Fever
Increased circulating interleukin 6 concentration, Increased circulating IgM level ORPHA:99829
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM ORPHA:171
Marburg Hemorrhagic Fever
Increased circulating antibody level ORPHA:99826
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre... OMIM:619381
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve calcification, Cardiomegaly... OMIM:182250
Generalized Arterial Calcification Of Infancy
Myocardial calcification, Pancreatic calcification, Ventricular hypertrophy, Cardiomegaly, Perica... ORPHA:51608
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150

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 Cabin1

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 Cabin1.

No publications found that use IMPC mice or data for Cabin1.

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MGI Allele Allele Type Produced
Cabin1em1(IMPC)Ccpcz Exon Deletion Mice
Cabin1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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