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Gene: Ppp3cb MGI:107163

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
protein phosphatase 3, catalytic subunit, beta isoform
Synonyms:
PP2BA beta,  Calnb,  CnAbeta,  1110063J16Rik,  Cnab

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Ppp3cb 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 Ppp3cb by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Wiskott-Aldrich Syndrome 2
Recurrent infections, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 20
Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Recurrent viral upper respira... OMIM:615707
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Immunodeficiency 8
Lymphopenia OMIM:615401
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Secretory Component Deficiency
Secretory IgA deficiency, Chronic intestinal candidiasis OMIM:269650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections OMIM:615206
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Immunodeficiency 81
Impaired neutrophil chemotaxis, Impaired collagen-induced platelet aggregation, Recurrent infecti... OMIM:619374
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Pulmonary insufficiency, Lymp... ORPHA:277
Immunodeficiency 14B, Autosomal Recessive
Recurrent sinusitis, Decreased circulating IgA level, Recurrent pneumonia, Decreased circulating ... OMIM:619281
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Agammaglobulinemia, Recurrent respiratory infections OMIM:615214
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Recurrent sinusitis, Recurrent upper respiratory tract infe... OMIM:613101
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Lymphadenopathy, Splenome... OMIM:608971
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections, ... OMIM:300291
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Immunodeficiency 66
Sepsis, Defective T cell proliferation OMIM:618847
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Agammaglobulinemia 8, Autosomal Dominant
Recurrent infections, Recurrent otitis media, Agammaglobulinemia OMIM:616941
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Decreased circulating antibody level, Dysgammaglobulinemia, Recu... OMIM:308240
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... OMIM:601457
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent upper respiratory tract infections, Increased circulating antibody level, Recurrent oti... OMIM:615559
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Nemaline Myopathy 2
Slender build, EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis... OMIM:256030
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Atrial septal defect, Cryptorchidism, Lymphopenia, Neutropenia... OMIM:612541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Distal Nebulin Myopathy
Slender build, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, Nemaline bod... ORPHA:399103
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia OMIM:153600
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Failure to thrive in infancy, Increased variability in... OMIM:619065
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Proximal muscle weakness in upper li... ORPHA:276435
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber ... OMIM:612937
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Failure to thrive, Hepatosplenome... OMIM:242700
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology ORPHA:33314
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent otitis media, Recurrent sinusitis, Impaired T cell function, Decr... OMIM:607594
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy OMIM:618129
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Rimmed vacuoles, Flexion contracture OMIM:300696
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Decreased specific ... OMIM:300853
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... ORPHA:399086
Childhood-Onset Nemaline Myopathy
Slender build, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging... ORPHA:171439
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology OMIM:609529
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Ataxia-Telangiectasia
Conjunctival telangiectasia, T lymphocytopenia, Defective B cell differentiation, Decreased propo... OMIM:208900
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617006
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Nemaline Myopathy 4
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... OMIM:609285
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Panhypogammaglobulinemia, Failure t... OMIM:602450
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Multiple joint ... ORPHA:424107
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... OMIM:618823
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... OMIM:616470
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recu... OMIM:209920
Myasthenic Syndrome, Congenital, 14
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture OMIM:616228
Gastrointestinal Defects And Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Hematochezia, Hypoplasia of the thymus, Ventricular septal defect OMIM:243150
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity OMIM:616050
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... OMIM:617114
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... ORPHA:98905
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Lymphadenitis, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:331206
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... OMIM:167320
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Slender build, Congenital muscular dystrophy, Flexion contracture, Ty... OMIM:254090
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Arthrogryposis multiplex congenita, Centrally nucleated skeletal muscle fibers, Flexion contractu... OMIM:618484
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Overweight, Centrally nucleated skeletal muscle fibers, Multiple jo... ORPHA:486815
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, F... ORPHA:536516
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture OMIM:605637
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Recurrent ... OMIM:617765
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Atrioventricular canal defect, Bra... ORPHA:40366
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positiv... ORPHA:276
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Myocarditis, Increased B cell count, Cervical lymphad... ORPHA:2442
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Syndromic Diarrhea
Thrombocytosis, Atrial septal defect, Aortic regurgitation, Abnormal heart morphology, Ventricula... ORPHA:84064
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Lymphadenopathy, Eosinophilia, Iron defi... OMIM:603909
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Myopathy, Myosin Storage, Autosomal Recessive
Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Centrally nucleated skeletal musc... OMIM:255160
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... OMIM:611705
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level ORPHA:217390
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Myopathy, Ragged... ORPHA:254864
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... ORPHA:119
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Increased vari... ORPHA:401768
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Type 1 muscle fiber predomi... ORPHA:597
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, H... ORPHA:66628
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, In... ORPHA:1145
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Chronic oral candidiasis, Recurrent otitis media, Impaired ADP-in... OMIM:608233
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, ... OMIM:609560
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, H... ORPHA:179494
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Increased circula... ORPHA:443811
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Myopathy, Fatty replacement of skeletal... ORPHA:397744
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Pulmonary hemorrhage, Decreased proportion of memory B cells, Panhypogammaglob... ORPHA:79124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Cryptorchidism, Failure to thrive, Abnormal heart morphology OMIM:214110
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy, Calf muscle pseudohypertr... OMIM:253700
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Skeletal muscle... OMIM:616867
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter OMIM:619334
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage, Decreased proportion of CD4-positive helpe... ORPHA:543
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Acute leukemia, Epistaxis, Hypopl... ORPHA:906
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Classic Multiminicore Myopathy
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Multiple j... ORPHA:324604
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Camptodact... ORPHA:610
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Generalized amyotrophy, Facial palsy, Muscle fiber necrosis, Ragged... OMIM:258450
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Familial Hemophagocytic Lymphohistiocytosis
Decreased circulating antibody level, Reduced natural killer cell activity ORPHA:540
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content OMIM:610717
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Failure to thrive in infancy, Increased variability in muscle fiber diameter OMIM:619026
Cap Myopathy
Abnormal muscle fiber morphology, Lower limb muscle weakness, Generalized amyotrophy, Facial pals... ORPHA:171881
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:329478
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Muscular dystrophy, Muscle fiber atrophy, Limb-girdle muscular dystrophy ORPHA:369840
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urina... OMIM:613179
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Type 1 muscle fiber pre... ORPHA:171436
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Flexion contracture, ... ORPHA:178148
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Generalized amyotrophy, Rimmed vacuoles, Fatty replacement of skele... ORPHA:52430
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... OMIM:181405
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Orotic Aciduria
Hypochromia, Atrial septal defect, Ventricular septal defect, Folate-unresponsive megaloblastic a... OMIM:258900
Truncus Arteriosus
Adrenocortical abnormality, Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnor... ORPHA:3384
Selective Igm Deficiency
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Dec... ORPHA:331235
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle... OMIM:248800
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Facial palsy, Myopathy, Ragged-red muscle fibers, Muscle ... ORPHA:254886
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Failure to thrive OMIM:614924
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Small for gestational age, Conge... OMIM:615368
Vici Syndrome
Cutaneous anergy, Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG2... OMIM:242840
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Rhabdomyolysis, Facial palsy, Skeletal muscle atrophy, Muscle fiber... OMIM:157640
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Limb-gir... OMIM:616812
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, Decreased proportio... ORPHA:508533
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower limbs, Skeletal... ORPHA:206569
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Ventricular septal defect, Autoimmune hemolytic anemia, Hashimoto thyroiditis... ORPHA:436252
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pre... ORPHA:169189
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the 5th finger... OMIM:617258
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity OMIM:603553
22Q11.2 Deletion Syndrome
Cryptorchidism, Corneal neovascularization, Abnormality of the tonsils, Obesity, Truncus arterios... ORPHA:567
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, G... ORPHA:169186
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormal... ORPHA:79083
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased specific anti-polysaccharid... ORPHA:3261
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Diaphragmatic e... OMIM:616866
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections ORPHA:30
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Lower limb hypertonia, Lower limb muscle weakness, Upper limb muscle we... ORPHA:99013
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Weight loss, Distal amyotrophy, Cachexia, Ragged-red muscle fibers OMIM:603041
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Weight loss, Autophagic vacuoles, Distal amyotrophy, Facial palsy, ... OMIM:164310
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Small vessel vasculitis... OMIM:600903
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Supraventricular arrhythmia, Microcytic anemia, Hypergonadotropic hypogonadism... ORPHA:2959
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe OMIM:175700
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of facial musculature ORPHA:352447
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Immunodeficiency 58
Recurrent upper respiratory tract infections, Helicobacter pylori infection, Decreased specific a... OMIM:618131
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in muscle fiber diameter OMIM:607459
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Abnormality of the extraocular muscles, Weight loss, Cachexia, Ragged-red ... ORPHA:298
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Increased intramyocellular lipid... ORPHA:502423
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Shoulder girdle muscle weak... ORPHA:600
Treacher-Collins Syndrome
Cryptorchidism, Hypoplasia of the thymus, Failure to thrive, Thyroid hypoplasia, Abnormality of t... ORPHA:861
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy ORPHA:3068
Native American Myopathy
Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Abnormality of skeleta... ORPHA:168572
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Recurrent infections, Decreased specific anti-polysaccharide antibody l... OMIM:614576
Eec Syndrome
Hypoplasia of the thymus, Anterior hypopituitarism, Decreased response to growth hormone stimuati... ORPHA:1896
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Hypothyroidism, Lymphopenia, Neutropenia, Raynaud... OMIM:607944
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the lower limbs, Distal amyotrophy, Cachexia, Skeletal muscle atrop... ORPHA:300605
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Dysgammaglob... OMIM:251260
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Flexion contracture, Failure to thrive, Skeletal muscle atrophy... ORPHA:367
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Polymyositis
Abnormal muscle fiber morphology, Weight loss ORPHA:732
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Congenital contracture, Increased ... OMIM:613150
Myopathy, Mitochondrial, And Ataxia
Distal amyotrophy, Increased variability in muscle fiber diameter OMIM:617675
Ehlers-Danlos Syndrome, Classic-Like
Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Rimmed vacuoles OMIM:606070
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries, Splenomegaly ORPHA:2969
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Decreased T cell activation, Inc... OMIM:618213
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased intramyocellular lipid droplets, Flexion contracture, Rhabdomyolysis, Skeletal muscle a... ORPHA:17
Schimke Immuno-Osseous Dysplasia
Recurrent infections, Impaired T cell function, Abnormal lymphocyte physiology, Bone marrow hypoc... ORPHA:1830
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower limb muscle we... ORPHA:79102
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Absent muscle fiber merosin, Fle... ORPHA:258
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers OMIM:607426
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Wrist flexion contracture, Muscle fiber necrosis, Knee flexion cont... OMIM:618733
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Rhabdomyolysis, Failure to thrive OMIM:124000
Congenital Myasthenic Syndrome
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Distal lower limb muscle weakne... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Distal lower limb muscle weakne... ORPHA:98914
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections OMIM:176690
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Hepatosplenomegaly ORPHA:96123
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Hypomimic face, Ragged-red muscle fibers, Quadriceps muscle weaknes... ORPHA:254892
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Increased muscle lipid content, Skeletal myopathy... ORPHA:565612
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Abnormality of cytokine secretion ORPHA:567983
Bloom Syndrome
Acute myeloid leukemia, Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells... ORPHA:125
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Neoplasm of the thymus, Sudden cardiac death, Pulmonary embolis... ORPHA:744
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Failure to thrive ORPHA:255210
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Digeorge Syndrome
Impaired T cell function, Recurrent infections OMIM:188400
Singleton-Merten Syndrome 1
Tendon rupture, Muscle fiber atrophy, Decreased body weight 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 Ppp3cb

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 Ppp3cb.

No publications found that use IMPC mice or data for Ppp3cb.

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MGI Allele Allele Type Produced
Ppp3cbtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppp3cbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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