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Gene: Myl4 MGI:97267

Gene Summary

Name:

myosin, light polypeptide 4

Synonyms:

MLC1a, Myla, ELC, ELC1a

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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating iron level	Myl4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.72×10^-05
decreased IgA level	Myl4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.64×10^-07
decreased IgM level	Myl4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.80×10^-05
decreased IgG3 level	Myl4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.67×10^-08

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Myl4 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.

Human diseases associated with Myl4 (2 diseases)
Human diseases predicted to be associated with Myl4 (348 diseases)

The table below shows human diseases associated to Myl4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Atrial Fibrillation, Familial, 18			OMIM:617280
Familial Atrial Fibrillation			ORPHA:334

The table below shows human diseases predicted to be associated to Myl4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen...	OMIM:613494
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:619707
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:613502
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,...	OMIM:613493
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte...	OMIM:607271
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM	OMIM:613500
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Increased cir...	OMIM:618944
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c...	OMIM:300400
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level	OMIM:242870
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:612692
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 62	Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,...	OMIM:618459
Immunodeficiency 18	Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ...	OMIM:615615
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Increased alpha-globulin	OMIM:235900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Decreased serum creatinine,...	OMIM:617744
Immunodeficiency 70	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunodeficiency 11A	Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife...	OMIM:615206
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti...	OMIM:240500
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency 14B, Autosomal Recessive	Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ...	OMIM:619281
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Immunodeficiency 112	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620449
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Decreased circulating total IgM	OMIM:617638
Immunodeficiency 96	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619774
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:607594
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl...	ORPHA:209004
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:618394
Immunodeficiency 52	Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating antibody l...	OMIM:617514
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Immunodeficiency 15B	Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat...	OMIM:615592
Immunodeficiency 102	Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir...	OMIM:301082
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Decreased specific antibody response to polysac...	OMIM:241600
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619510
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618261
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619752
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia	OMIM:619705
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:616100
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgA level...	OMIM:612783
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Hypomagnesemia, Decreased circulating IgA level...	ORPHA:90362
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul...	OMIM:615513
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ...	OMIM:301081
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to po...	ORPHA:70593
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:620210
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:169160
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:615758
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent isohemagglutinin level	OMIM:613501
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Immunodeficiency 9	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612782
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:331206
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hypocalcemia	ORPHA:100025
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Immunodeficiency 64 With Lymphoproliferation	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Defec...	OMIM:618534
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Increased circulating ferritin concentration, Decreased circulat...	OMIM:619802
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Decreased circulating IgG level	OMIM:152800
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level	OMIM:616005
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:275
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:275350
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Abnormal circulatin...	OMIM:620632
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:436159
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:276
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased circulating antibody level	OMIM:619846
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level	OMIM:617006
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Increased circulating IgM level	OMIM:242860
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Iron Overload, Susceptibility To	Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir...	OMIM:620121
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal natural killer cell physiology, Decreased circulating antibody level, Hypertriglyceridem...	OMIM:613101
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level	OMIM:616873
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level	OMIM:615767
Rosaï-Dorfman Disease	Dysgammaglobulinemia	ORPHA:158014
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell...	OMIM:617241
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:612301
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:607143
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Hypoproteinemia	ORPHA:1116
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620040
Immunodeficiency 46	Decreased circulating antibody level	OMIM:616740
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Decreased circulating iron concentration	OMIM:212050
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k...	OMIM:602668
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:601859
Immunodeficiency 47	Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating a...	OMIM:300972
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Elevated transferrin saturation, Increased circulating ferritin concentration	OMIM:205950
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or...	OMIM:300755
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Increased circulating IgE level, Decreased circulating IgA level, Decreased specific anti-polysac...	OMIM:606367
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614700
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Increased circulating IgG level	OMIM:618982
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell activity, Decreased...	OMIM:308240
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level, Increased circulating ferritin concentration, Hypertriglyce...	OMIM:300635
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Increased circulating IgG level, Increased...	OMIM:618048
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia	ORPHA:318
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,...	ORPHA:90363
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Gracile Syndrome	Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti...	OMIM:603358
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ...	ORPHA:35078
Ataxia-Pancytopenia Syndrome	Decreased circulating antibody level, Abnormal platelet function	ORPHA:2585
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant...	OMIM:613496
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:618116
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Decreased circulating IgA level, Decreased circulating IgG2 leve...	OMIM:102700
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level	OMIM:301045
Immunodeficiency 48	Panhypogammaglobulinemia	OMIM:269840
Cernunnos-Xlf Deficiency	Decreased circulating antibody level	ORPHA:169079
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618108
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre...	ORPHA:221139
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating total IgM	OMIM:243700
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
Immunodeficiency 27A	Hypoalbuminemia, Increased circulating IgG level, Increased circulating IgM level	OMIM:209950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia	OMIM:601457
Bloom Syndrome	Decreased circulating total IgM, Elevated hemoglobin A1c, Decreased circulating IgA level, Decrea...	OMIM:210900
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Hypocalcemia	OMIM:212750
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating creatine kinase concentration, Decreased circulating IgA level, Hypertriglyc...	OMIM:613327
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level	OMIM:616576
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:420741
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level	OMIM:613385
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Decreased specific ...	OMIM:300853
Reticular Dysgenesis	Decreased circulating antibody level	ORPHA:33355
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hypocholesterolemia, Decreased circulating IgA level, Decreased circulating IgG ...	OMIM:212065
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:208900
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia	OMIM:619693
Immunodeficiency 114, Folate-Responsive	Increased circulating IgE level, Decreased circulating IgG level, Increased circulating ferritin ...	OMIM:620603
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre...	ORPHA:169154
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Decreased circulating antibody level	ORPHA:397596
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating total IgM, Decreased specific pneumococcal antibody level, Decreased circul...	ORPHA:183675
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:619767
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Hypercalcemia, Hypertriglycerid...	ORPHA:369837
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:603909
Hjv Or Hamp-Related Hemochromatosis	Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ...	ORPHA:79230
Hemochromatosis, Neonatal	Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ...	OMIM:231100
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased...	OMIM:617099
Autoinflammation With Arthritis And Dyskeratosis	Elevated circulating C-reactive protein concentration, Increased circulating IgG level, Increased...	OMIM:617388
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Decreased circulatin...	ORPHA:3261
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Decreased circulating antibody level, Hyperhomocystinemia	OMIM:617780
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Decreased circulating antibody level, Elev...	OMIM:619750
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:125
Multiple Myeloma	Elevated circulating creatinine concentration, Increased circulating IgA level, Increased circula...	ORPHA:29073
Schnitzler Syndrome	Increased circulating IgM level	ORPHA:37748
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre...	ORPHA:508533
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Lymphoproliferative Syndrome 1	Elevated circulating C-reactive protein concentration, Decreased circulating IgG level, Decreased...	OMIM:613011
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ...	ORPHA:74
Maternal Uniparental Disomy Of Chromosome 1	Panhypogammaglobulinemia	ORPHA:251009
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Dubowitz Syndrome	Decreased circulating IgG level, Hypocholesterolemia, Decreased circulating IgA level	OMIM:223370
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Abnormal circ...	OMIM:620376
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Elevated hepatic iron concentration	OMIM:206100
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620005
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis	ORPHA:75563
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level	OMIM:615122
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Agammaglobulinemia 1, Autosomal Recessive	Agammaglobulinemia, Decreased circulating antibody level, Panhypogammaglobulinemia	OMIM:601495
Ataxia-Telangiectasia	Decreased circulating antibody level	ORPHA:100
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ...	OMIM:301000
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Lack ...	ORPHA:572
Selective Igm Deficiency	Paraproteinemia, Decreased specific antibody response to vaccination, Decreased circulating total...	ORPHA:331235
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating interleukin 6 concentration, Increased circulating interfe...	ORPHA:540
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating...	OMIM:619381
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Decreased circ...	OMIM:618183
Mhc Class Ii Deficiency 1	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia	OMIM:209920
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level	OMIM:618165
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Abnormality of B cell physiology, Decreased lymphocyte proliferation in respons...	OMIM:600802
Alg12-Cdg	Hypoalbuminemia, Abnormal circulating IgM level, Hypocholesterolemia, Complete or near-complete a...	ORPHA:79324
Immunodeficiency 67	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:607676
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Increased circulating IgG level, Increased...	OMIM:615934
Roifman Syndrome	Decreased circulating antibody level	ORPHA:353298
Griscelli Syndrome	Bone marrow hypocellularity, Decreased circulating antibody level, Abnormal circulating lipid con...	ORPHA:381
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Decreased circulating antibody level, Hypoproteinemia	OMIM:226300
Immunodeficiency 12	Complete or near-complete absence of specific antibody response to tetanus vaccine, Absent isohem...	OMIM:615468
Immunodeficiency 56	Panhypogammaglobulinemia	OMIM:615207
X-Linked Agammaglobulinemia	Agammaglobulinemia, Hypocalcemia	ORPHA:47
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Hyperbilirubinemia	OMIM:613070
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level	OMIM:616395
Autosomal Agammaglobulinemia	Agammaglobulinemia	ORPHA:33110
Gracile Syndrome	Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr...	ORPHA:53693
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased lymphocyte proliferati...	OMIM:618986
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level	OMIM:256500
Hereditary Folate Malabsorption	Decreased circulating antibody level	ORPHA:90045
Icf Syndrome	Decreased circulating antibody level	ORPHA:2268
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Decreased circulating antibody level	OMIM:615952
Macrocephaly/Autism Syndrome	Decreased circulating antibody level	OMIM:605309
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Elevated circulating C-reactive protein concentration, Increased circulating IgE level, Increased...	OMIM:620565
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Immunodeficiency 23	Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level	OMIM:615816
Pgm3-Cdg	Bone marrow hypocellularity, Increased circulating IgE level, Increased circulating IgA level, Re...	ORPHA:443811
Thymoma	Abnormal lymphocyte physiology, Decreased circulating antibody level, Abnormal lymphocyte prolife...	ORPHA:99867
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Elevated circula...	OMIM:614576
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Increased circulating IgA level, Hyper...	ORPHA:186
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Decreased circulating complement factor B concentration, Hypotriglyceridemia, Ab...	ORPHA:2298
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Agammaglobulinemia, Decreased circulating antibody level	OMIM:243150
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Increased circulating ferritin concentration, Decreased HDL chol...	ORPHA:470
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity	OMIM:301078
Good Syndrome	Decreased circulating antibody level	ORPHA:169105
Immunodeficiency 58	Decreased T cell activation, Decreased circulating antibody level, Decreased specific antibody re...	OMIM:618131
Schimke Immunoosseous Dysplasia	Abnormal immunoglobulin level, Decreased circulating antibody level	OMIM:242900
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Abnormality of iro...	OMIM:222470
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM	ORPHA:83617
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Increased circulating IgM level	OMIM:617303
Hyper-Igd Syndrome	Increased circulating IgD level, Increased circulating IgA level	OMIM:260920
Beta-Thalassemia	Abnormality of iron homeostasis	ORPHA:848
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:79329
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level	OMIM:617425
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Hyperbilirubinemia, Increased circulating IgM level	ORPHA:562639
Postinfectious Vasculitis	Abnormality of humoral immunity, Elevated haptoglobin level, Increased circulating antibody level...	ORPHA:48435
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Decreased circulating antibody level	OMIM:616084
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating antibody level	ORPHA:293978
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	ORPHA:935
Viss Syndrome	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level	OMIM:619472
Mannosidosis, Alpha B, Lysosomal	Decreased circulating antibody level	OMIM:248500
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Panhypogammaglobulinemia, Abnormal circulating interleukin concentration, Abnormal circulating in...	ORPHA:79124
Japanese Encephalitis	Hyponatremia, Increased circulating IgM level, Increased circulating antibody level	ORPHA:79139
Cowden Syndrome 1	Decreased circulating antibody level	OMIM:158350
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased circulating antibody l...	ORPHA:3132
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,...	OMIM:618213
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449432
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat...	OMIM:256040
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Increased circulating IgM level	ORPHA:79078
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ...	ORPHA:465508
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulat...	ORPHA:505248
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Panhypogammaglobulinemia	OMIM:307200
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Increased circulating IgG level, Increased...	ORPHA:297
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Decreased circulating antibody level	ORPHA:79396
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Common Variable Immunodeficiency	Decreased circulating antibody level	ORPHA:1572
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Decreased circulating IgG2 level, Elevated cir...	OMIM:242840
Cartilage-Hair Hypoplasia	Decreased circulating antibody level, Hypocalcemia	ORPHA:175
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Syndromic Diarrhea	Abnormality of iron homeostasis, Panhypogammaglobulinemia	ORPHA:84064
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Elevated hepatic iron concentration	ORPHA:231222
Hennekam Syndrome	Decreased circulating antibody level, Hypocalcemia	ORPHA:2136
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Bone marrow hypocellularity, Decreased cir...	OMIM:615688
Autoimmune Polyendocrinopathy Type 4	Decreased circulating antibody level	ORPHA:227990
Whim Syndrome	Decreased circulating antibody level	ORPHA:51636
Autoimmune Polyendocrinopathy Type 3	Decreased circulating antibody level	ORPHA:227982
Trichothiodystrophy	Panhypogammaglobulinemia	ORPHA:33364
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Increased total iron binding capacity, Hyperglycin...	ORPHA:309854
Primary Sjögren Syndrome	Reduced circulating complement concentration, Decreased circulating antibody level, Increased cir...	ORPHA:289390
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Unconjugated hyperbilirubinemia	OMIM:618278
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:228123
Nijmegen Breakage Syndrome	Dysgammaglobulinemia	OMIM:251260
Dominant Beta-Thalassemia	Abnormality of iron homeostasis	ORPHA:231226
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ...	ORPHA:99829
Brucellosis	Elevated circulating C-reactive protein concentration, Increased circulating IgG level, Increased...	ORPHA:1304
Primary Sclerosing Cholangitis	Hypoalbuminemia, Polyclonal elevation of IgM	ORPHA:171
Thrombocytopenia-Absent Radius Syndrome	Decreased circulating antibody level	OMIM:274000
Gaucher Disease	Increased circulating ferritin concentration, Increased circulating antibody level, Polyclonal el...	ORPHA:355
Beta-Thalassemia Major	Abnormality of iron homeostasis	ORPHA:231214
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Increased circulating IgM level, Elevated circulating creatine k...	ORPHA:99827
Sponastrime Dysplasia	Decreased circulating antibody level	ORPHA:93357
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency	ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Decreased circulating antibody level	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Decreased circulating antibody level	ORPHA:261552
Atrial Fibrillation, Familial, 18		OMIM:617280
Familial Atrial Fibrillation		ORPHA:334

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 Myl4

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 Myl4.

No publications found that use IMPC mice or data for Myl4.

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
Myl4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Myl4^{tm47401(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Myl4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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