Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ifit2 MGI:99449

Gene Summary

Name:

interferon-induced protein with tetratricopeptide repeats 2

Synonyms:

Ifi54

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.

No results meet the p-value threshold

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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 Ifit2 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 Ifit2 (0 diseases)
Human diseases predicted to be associated with Ifit2 (424 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ifit2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk...	OMIM:618944
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency 24	Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ...	OMIM:615897
Kimura Disease	Increased circulating IgE level	ORPHA:482
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	OMIM:610163
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level	OMIM:618982
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Spasticity, Bruxism, Aggressive behavior	OMIM:615493
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve...	OMIM:617241
Rabies	Cerebral palsy, Anorexia, Recurrent pharyngitis, Paresthesia, Attention deficit hyperactivity dis...	ORPHA:770
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Spasticity, Bruxism, Aggressive behavior	ORPHA:356996
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to...	OMIM:613493
Spinocerebellar Ataxia Type 23	Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr...	ORPHA:101108
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:619707
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	OMIM:617765
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Spinocerebellar Ataxia 37	Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
Severe Combined Immunodeficiency, X-Linked	Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea...	OMIM:300400
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas...	OMIM:614699
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:613502
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level	OMIM:212050
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le...	ORPHA:98813
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia...	ORPHA:101112
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:618534
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul...	OMIM:613908
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Urocanase Deficiency	Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Schizophrenia 15	Hyperactivity	OMIM:613950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function	ORPHA:277
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity	OMIM:606777
Butyrylcholinesterase Deficiency	Chronic infection, Paralysis	ORPHA:132
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level	OMIM:613500
Immunodeficiency 62	Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,...	OMIM:618459
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Recurrent infections, Truncal ataxia, Action tremor	ORPHA:210128
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level	OMIM:618523
Spinocerebellar Ataxia, Autosomal Recessive 25	Babinski sign, Ataxia, Dysmetria, Truncal ataxia	OMIM:617584
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia	ORPHA:228169
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Agammaglobulinemia 8B, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o...	OMIM:619824
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A...	OMIM:309548
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Epilepsy, Progressive Myoclonic, 12	Ataxia, Dysmetria, Myoclonus, Attention deficit hyperactivity disorder, Difficulty walking	OMIM:619191
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:612692
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio...	ORPHA:100973
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Porphyria, Acute Hepatic	Respiratory paralysis, Paresthesia, Paralysis	OMIM:612740
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level	ORPHA:217390
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level...	OMIM:619752
Igg4-Related Aortitis	Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc...	ORPHA:449400
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:147060
Hartnup Disorder	Episodic ataxia, Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder	OMIM:234500
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,...	OMIM:308240
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM	OMIM:243700
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Schnitzler Syndrome	Increased circulating IgM level	ORPHA:37748
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level	OMIM:209950
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Decreased circulating antibody level	ORPHA:397596
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:169154
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis, Paresthesia	ORPHA:640
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:618969
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Difficulty walking, Distal sensory impairment, Paralysis	OMIM:613710
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi...	OMIM:301107
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:618394
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Immunodeficiency 109 With Lymphoproliferation	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Complete or near...	OMIM:620282
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Spasticity	OMIM:615924
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Recurrent otitis media, Hyperactivity, Inflexible adherence to routines	OMIM:301076
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Dysphagia, Paralysis	OMIM:300857
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Oculomotor apraxia, Spasticity	OMIM:612716
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Ataxia, Unsteady gait, Truncal ataxia, Limb ataxia, Gait disturbance, Dysphagia	ORPHA:284271
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Abnormali...	ORPHA:382
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Acute Lung Injury	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:178320
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Spinocerebellar Ataxia 44	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Frequent falls	OMIM:617691
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619281
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level	OMIM:618495
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:619510
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Immunodeficiency 15B	Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat...	OMIM:615592
Immunodeficiency 36 With Lymphoproliferation	Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:616005
X-Linked Adrenoleukodystrophy	Hyperactivity, Incoordination, Somatic sensory dysfunction, Paralysis, Aggressive behavior, Parap...	ORPHA:43
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair...	ORPHA:99947
Neuropathy, Hereditary Motor And Sensory, Russe Type	Difficulty walking, Distal sensory impairment, Paralysis	OMIM:605285
Immunodeficiency 43	Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:241600
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Netherton Syndrome	Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Acute Peripheral Arterial Occlusion	Paresthesia, Impaired distal tactile sensation, Paralysis	ORPHA:90064
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to walk, Chor...	ORPHA:500180
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level	OMIM:618048
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Immunodeficiency 96	Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Lethal Congenital Contracture Syndrome 7	Oral-pharyngeal dysphagia, Paralysis	OMIM:616286
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level	OMIM:242860
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive...	ORPHA:248111
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hypoesthesia, Vocal cord paralysis, Hand paresthesia	OMIM:162500
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level	OMIM:615285
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Vocal cord paralysis	OMIM:607641
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:70578
Intellectual Developmental Disorder, Autosomal Dominant 67	Recurrent respiratory infections, Hyperactivity, Compulsive behaviors, Attention deficit hyperact...	OMIM:619927
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre...	OMIM:607594
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level	ORPHA:2902
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Parkinsonism, Paralysis	OMIM:105500
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Increased circulating IgA level	OMIM:617099
Variegate Porphyria	Paralysis	OMIM:176200
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir...	OMIM:240500
Cln5 Disease	Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to...	ORPHA:228360
Lethal Congenital Contracture Syndrome 8	Vocal cord paralysis, Distal sensory impairment, Oral-pharyngeal dysphagia	OMIM:616287
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Decreased...	OMIM:606367
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level	OMIM:615816
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:615758
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead...	OMIM:609270
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Dysphagia, Paralysis	ORPHA:230800
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated circulating C-r...	ORPHA:158061
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:619705
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis	OMIM:614198
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level	OMIM:304790
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve...	ORPHA:449432
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level	OMIM:616873
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc...	OMIM:618213
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia...	ORPHA:91139
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Chilblain Lupus	Increased circulating antibody level	ORPHA:90280
Ras-Associated Autoimmune Leukoproliferative Disorder	Decreased lymphocyte apoptosis, Increased circulating antibody level	OMIM:614470
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio...	ORPHA:276
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Broad-based gait, Distal sensory impairment, Gait ataxia, Sensory ataxia, Steppage gait, Difficul...	OMIM:614895
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Increased circulating IgE level, Decreased circulating total I...	OMIM:102700
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:620210
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level	OMIM:617388
Aspergillosis	Increased circulating IgE level	ORPHA:1163
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
Autosomal Dominant Hyper-Ige Syndrome	Increased circulating IgE level	ORPHA:2314
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased circulating fe...	ORPHA:540
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ...	ORPHA:169160
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:616100
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Pgm3-Cdg	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:443811
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Hyperactivity, Abnormal central motor function, Ataxia, Cerebra...	ORPHA:760
Lead Poisoning	Abnormality of humoral immunity, Increased circulating IgE level	ORPHA:330015
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac...	ORPHA:3261
Laryngeal Abductor Paralysis	Vocal cord paralysis, Dysphagia	OMIM:150260
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota...	ORPHA:508533
Mucopolysaccharidosis-Plus Syndrome	Increased circulating IgM level, Bone marrow hypocellularity	OMIM:617303
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Autoimmune Lymphoproliferative Syndrome, Type Iii	Reduced natural killer cell activity, Absent isohemagglutinin level, Increased circulating antibo...	OMIM:615559
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level	ORPHA:2137
Machado-Joseph Disease Type 1	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276238
Machado-Joseph Disease Type 2	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276241
Pyoderma Gangrenosum	Increased circulating antibody level	ORPHA:48104
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Increased circulating IgA level	OMIM:615934
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating antibody level, Decreased circulating total IgM, Reduced antigen-specific T...	ORPHA:331206
Primary Biliary Cholangitis	Increased circulating IgM level, Increased circulating IgA level	ORPHA:186
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Wiskott-Aldrich Syndrome	Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ...	OMIM:301000
Agammaglobulinemia, X-Linked	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula...	OMIM:300755
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Dysphagia, Paralysis	ORPHA:228371
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Familial Cervical Artery Dissection	Paresthesia, Paralysis	ORPHA:36382
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level	OMIM:226990
Trichinellosis	Increased circulating IgE level	ORPHA:863
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Brown-Vialetto-Van Laere Syndrome 1	Recurrent respiratory infections, Ataxia, Vocal cord paralysis, Dysphagia, Clumsiness, Ankle clon...	OMIM:211530
Immunodeficiency 92	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level...	OMIM:619652
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiado...	OMIM:610217
Sweet Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:3243
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Poliomyelitis	Anorexia, Paralysis, Paraparesis, Inability to walk, Hyperkinetic movements, Agitation, Fascicula...	ORPHA:2912
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Snakebite Envenomation	Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Paralysis	ORPHA:449285
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Machado-Joseph Disease Type 3	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276244
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level	ORPHA:79139
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:275
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:436159
Tick-Borne Encephalitis	Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l...	ORPHA:297
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Increased circulating IgM level, Decreased circulating IgG level, Bone marrow hypocellularity	ORPHA:505248
Leishmaniasis	Increased circulating antibody level	ORPHA:507
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level	ORPHA:37042
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level	ORPHA:79078
Glioblastoma	Paralysis	ORPHA:360
Igg4-Related Kidney Disease	Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve...	ORPHA:449395
Amyotrophic Lateral Sclerosis	Spasticity, Agitation, Paralysis	ORPHA:803
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620040
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Tularemia	Increased circulating antibody level	ORPHA:3392
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:90362
Immunodeficiency 97 With Autoinflammation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619802
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Increased circulating IgG4 level	ORPHA:449563
Pneumocystosis	Increased circulating antibody level	ORPHA:723
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph...	ORPHA:35078
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:613011
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating creatinine concentration,...	ORPHA:542323
Congenital Myopathy 15	Waddling gait, Vocal cord paralysis	OMIM:620161
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, A...	OMIM:234200
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Broad-based gait, Vocal cord paralysis	OMIM:615490
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:228123
Igg4-Related Thyroid Disease	Increased circulating IgG4 level	ORPHA:64744
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part...	OMIM:618986
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa...	ORPHA:682
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level	ORPHA:1493
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Waldenström Macroglobulinemia	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:33226
Prolidase Deficiency	Increased circulating antibody level	OMIM:170100
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612301
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis, Dysphagia	ORPHA:684
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614700
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Decreased circulating complement factor B concentration, Increas...	ORPHA:2298
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level	ORPHA:373
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Dysphagia	ORPHA:397744
Igg4-Related Pachymeningitis	Complement deficiency, Increased circulating IgG4 level	ORPHA:449427
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Porphyria, Acute Intermittent	Respiratory paralysis, Paresthesia, Paralysis	OMIM:176000
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level	OMIM:616395
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,...	ORPHA:221139
Inhalational Botulism	Paralysis	ORPHA:254504
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity	OMIM:301078
Brucellosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:1304
Immunodeficiency 47	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:300972
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Primary Sclerosing Cholangitis	Polyclonal elevation of IgM	ORPHA:171
Ebola Hemorrhagic Fever	Increased circulating antibody level	ORPHA:319218
Gitelman Syndrome	Salt craving, Ataxia, Paralysis, Paresthesia, Polydipsia	OMIM:263800
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:99827
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level	OMIM:617591
Yellow Fever	Increased circulating IgM level, Increased circulating interleukin 6 concentration	ORPHA:99829
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat...	OMIM:256040
Scleromyxedema	Paraproteinemia	ORPHA:167635
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord...	ORPHA:99956
Selective Igm Deficiency	Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina...	ORPHA:331235
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:210900
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Dysphagia	ORPHA:142
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Vocal cord paralysis, Myoclonus, Dysphagia	ORPHA:500144
Gaucher Disease Type 1	Increased circulating antibody level	ORPHA:77259
Secondary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulating IgA leve...	ORPHA:90363
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal...	ORPHA:183675
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Dysesthesia, Babinski sign, Vocal cord paralysis, Gait ataxia, Progr...	ORPHA:268882
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Cystic Echinococcosis	Increased circulating antibody level	ORPHA:400
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion	ORPHA:85436
Hyper-Igd Syndrome	Increased circulating IgD level, Increased circulating IgA level	OMIM:260920
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level	OMIM:619472
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Aregenerative Anemia	Abnormality of interleukin secretion	ORPHA:101096
Poems Syndrome	Increased circulating antibody level	ORPHA:2905
Mgat2-Cdg	Decreased circulating IgG level, Impaired platelet aggregation, Decreased lymphocyte proliferatio...	ORPHA:79329
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis	ORPHA:37553
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:125
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Ataxia, Aggressive behavior, Inability to walk, Vocal cord paralysis, Hype...	OMIM:617799
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity	ORPHA:2396
Ataxia-Telangiectasia	Decreased circulating IgG2 level, Decreased circulating IgG level, Defective B cell differentiati...	OMIM:208900
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis	ORPHA:79102
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Al Amyloidosis	Increased circulating antibody level	ORPHA:85443
Mevalonic Aciduria	Increased circulating IgD level	OMIM:610377
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating IgG level, Increased circulating antibody level	ORPHA:91500
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620005
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis	OMIM:203700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ...	ORPHA:3132
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Q Fever	Cryoglobulinemia, Increased circulating antibody level	ORPHA:781
Cysticercosis	Increased circulating antibody level	ORPHA:1560
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Abnormal temper tantrum...	ORPHA:2072
African Trypanosomiasis	Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa...	ORPHA:3385
Gaucher Disease Type 3	Increased circulating antibody level	ORPHA:77261
Alveolar Echinococcosis	Increased circulating antibody level	ORPHA:284
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Vici Syndrome	Decreased circulating IgG2 level, Cutaneous anergy, Decreased circulating IgG level, Decreased T ...	OMIM:242840
Postinfectious Vasculitis	Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase...	ORPHA:48435
Distal Renal Tubular Acidosis	Polydipsia, Paralysis	ORPHA:18
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:223370
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Primary Sjögren Syndrome	Decreased circulating antibody level, Increased circulating antibody level, Decreased circulating...	ORPHA:289390
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:619381
Gitelman Syndrome	Polydipsia, Salt craving, Paresthesia, Paralysis	ORPHA:358
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level	OMIM:181000
Lysinuric Protein Intolerance	Complement deficiency, Abnormality of humoral immunity, Increased circulating antibody level, Dec...	ORPHA:470
Aicardi-Goutieres Syndrome 7	Increased circulating antibody level	OMIM:615846
Pineoblastoma	Paralysis	ORPHA:251909
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level	OMIM:618278
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Gaucher Disease	Increased circulating antibody level	ORPHA:355
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM	ORPHA:83617
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Marburg Hemorrhagic Fever	Increased circulating antibody level	ORPHA:99826
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis	ORPHA:91347
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency	ORPHA:500150

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ifit2

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 Ifit2.

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

Title	Journal	IMPC Allele	PubMed ID
Ifit2 deficiency restricts microglial activation and leukocyte migration following murine coronavirus (m-CoV) CNS infection.	PLoS pathogens (November 2020)	Ifit2^{tm1(KOMP)Vlcg}	PMC7738193

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
Ifit2^{tm292778(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ifit2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us