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Gene: Ppp3cb MGI:107163

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Gene Summary

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

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.

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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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
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections OMIM:614493
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Immunodeficiency 20
Recurrent respiratory infections, Reduced natural killer cell activity, Recurrent sinusitis, Recu... OMIM:615707
Secretory Component Deficiency
Chronic intestinal candidiasis, Secretory IgA deficiency OMIM:269650
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Reduced natural ki... OMIM:300400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 24
Decreased circulating IgG level, Recurrent viral infections, Defective T cell proliferation, Redu... OMIM:615897
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Immunodeficiency 81
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... OMIM:619374
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... OMIM:181400
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Recurrent bacterial inf... OMIM:605258
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Recur... OMIM:619281
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Abnormal natural killer cell physiology, Recurrent ... OMIM:613101
Immunodeficiency 11A
Agammaglobulinemia, Recurrent respiratory infections, Reduced antigen-specific T cell proliferati... OMIM:615206
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Failure to thrive, Absence of lymph node germinal center, Increased circ... ORPHA:277
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections OMIM:146830
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Immunodeficiency 66
Defective T cell proliferation, Sepsis OMIM:618847
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in... OMIM:606843
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Recurrent bacterial infections, Increased circulating IgM... OMIM:608106
Immunodeficiency 104
Splenomegaly, Failure to thrive secondary to recurrent infections, T lymphocytopenia, Lymphadenop... OMIM:608971
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Recu... OMIM:300291
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Reduced natural killer cell activity, Recurrent upper respira... OMIM:615559
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... ORPHA:169154
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Paraproteinemia, Upper limb muscle weakness,... ORPHA:171442
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Dysgammaglobulinemia, Reduced natural killer cell activity, Rec... OMIM:308240
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur... OMIM:601457
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh... OMIM:300580
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B l... OMIM:618108
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... OMIM:240500
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Failure to thrive in infancy, T lymphocytopenia, Decreased circu... OMIM:619510
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia OMIM:153600
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300718
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Immunodeficiency, Common Variable, 1
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Decreased circulat... OMIM:607594
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly... OMIM:602450
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology ORPHA:33314
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... OMIM:253700
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat... OMIM:256030
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology OMIM:609529
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... OMIM:618986
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... OMIM:620310
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:602771
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... OMIM:160500
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... OMIM:243150
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... OMIM:620265
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... OMIM:601859
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Immunodeficiency 102
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... OMIM:301082
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Ataxia-Telangiectasia
Decreased circulating IgG level, Conjunctival telangiectasia, Failure to thrive, Diabetes mellitu... OMIM:208900
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... OMIM:618484
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... OMIM:603511
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... ORPHA:399086
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity OMIM:616050
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Immunodeficiency 96
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... OMIM:619774
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Recurrent viral infections, Recurrent upper respiratory tract... OMIM:209920
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Cor triatriatum, Intermittent thrombocytopenia, Perianal abscess, Erythroid hy... OMIM:612541
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Failure to thrive OMIM:613752
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... OMIM:167320
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Acitretin/Etretinate Embryopathy
Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia, A... ORPHA:40366
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... OMIM:617228
Dpm3-Cdg
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness ORPHA:263494
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Immunodeficiency 9
Failure to thrive, Hypoplasia of the thymus OMIM:612782
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Decreased proportion of naive T ... ORPHA:276
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... ORPHA:486815
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... OMIM:603909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle... OMIM:254090
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive OMIM:614096
Syndromic Diarrhea
Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet v... ORPHA:84064
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Spl... OMIM:613011
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Sever... OMIM:102700
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Immunodeficiency 22
Pericarditis, Failure to thrive, Abscess, Capillary leak, Anemia, Decreased circulating total IgM... OMIM:615758
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Central Core Disease
Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea... ORPHA:597
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... ORPHA:179494
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, De... OMIM:308230
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... ORPHA:443811
Wiskott-Aldrich Syndrome
Increased circulating IgA level, Reduced natural killer cell activity, Recurrent upper respirator... OMIM:301000
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Recurrent pneumonia, Impaired ADP-induced platelet aggregat... OMIM:608233
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hypertension, Absen... ORPHA:79124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Failure to thrive, Reduced natural killer cel... OMIM:242860
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... ORPHA:353327
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Failure to thrive, Hypoplasia of the thymus, Abnormal heart morphology OMIM:214110
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Thyroiditis, Lympha... ORPHA:83471
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormal lymph node morphology, Decreased... ORPHA:543
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss OMIM:613662
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Decreased circulating antibody level ORPHA:540
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... ORPHA:324604
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Failure to thrive, Skeletal muscle autophagosome accumulation, Centrally nucleat... OMIM:619518
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... OMIM:620285
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Impaired T cell function, Recurrent viral infections, Recurre... OMIM:613179
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy OMIM:619026
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Orotic Aciduria
Ventricular septal defect, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblas... OMIM:258900
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... ORPHA:171881
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Increased circulating IgE level, Incr... OMIM:243700
Agammaglobulinemia, X-Linked
Cor pulmonale, Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, Lymph node... OMIM:300755
Bethlem Myopathy
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... ORPHA:610
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Vici Syndrome
Decreased circulating IgG level, Atrial septal defect, Failure to thrive, Left ventricular hypert... OMIM:242840
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell prol... OMIM:616433
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity OMIM:603553
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Typical Nemaline Myopathy
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... ORPHA:171436
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... OMIM:620278
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98853
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... ORPHA:169189
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... ORPHA:508533
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath... OMIM:248800
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Rectal abscess, Hypoplasia of the thymus,... ORPHA:436252
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib... ORPHA:52430
22Q11.2 Deletion Syndrome
Impaired T cell function, Hypoplasia of the thymus, Atrial septal defect, Hypothyroidism, Hypopar... ORPHA:567
Roifman Syndrome
Recurrent otitis media, Decreased T cell activation, Recurrent pneumonia, Decreased circulating a... ORPHA:353298
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... ORPHA:3261
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele... OMIM:615368
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Co... ORPHA:391487
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Small for gestational age, Hypergonadotropic hypogonadism, Supraventric... ORPHA:2959
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus... OMIM:613327
Digeorge Syndrome
Ventricular septal defect, Impaired T cell function, Parathyroid agenesis, Decreased circulating ... OMIM:188400
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Failure to thrive OMIM:615595
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... OMIM:618131
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Hypoplasia of the thymus, Patent foramen ovale, Right ventr... OMIM:613177
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Weight loss, Decreas... OMIM:619381
Treacher-Collins Syndrome
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Failure to thrive, T... ORPHA:861
Optic Atrophy 11
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping OMIM:617302
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Recurrent infect... OMIM:614576
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Increased variability in muscl... OMIM:164310
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, T lymphocytopenia, Neutropenia,... OMIM:607944
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter OMIM:604377
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Increased circulating IgE level, Increased circulating IgG leve... OMIM:618213
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology ORPHA:3068
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... ORPHA:168572
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr... ORPHA:502423
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia... OMIM:251260
Polymyositis
Weight loss, Abnormal muscle fiber morphology ORPHA:732
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology, Recurrent ... ORPHA:1830
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Secundum atrial septal defect, Cryptorchidism, Hypoplasia of the thymu... OMIM:264090
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... OMIM:613150
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Obes... ORPHA:98908
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Increased... ORPHA:17
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections OMIM:176690
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula... ORPHA:79102
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Hypothyroidism, Congenital hypothyroidism, Hydrocele testis... OMIM:620186
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion, Small for gestational age ORPHA:567983
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Proteus Syndrome
Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged... ORPHA:744

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ppp3cbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppp3cbem1(IMPC)Ccpcz Exon Deletion Mice
Ppp3cbtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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