Gene Summary

Name:
interferon-induced protein with tetratricopeptide repeats 2
Synonyms:
Ifi54

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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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 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.

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 Similarity of
phenotypes
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
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... OMIM:618944
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... 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 8
Hyperactivity, Recurrent respiratory infections OMIM:615401
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Decreased specific pneumococcal ... OMIM:615897
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 25
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level OMIM:618982
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Increased circu... OMIM:615513
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Increased circulating IgG level OMIM:619220
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... OMIM:617241
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:619707
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:613493
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paralysis OMIM:608634
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300400
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:613502
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level, Abnormality of humoral immunity ORPHA:277
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Rabies
Cerebral palsy, Attention deficit hyperactivity disorder, Recurrent pharyngitis, Vocal cord pares... ORPHA:770
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM OMIM:613500
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607271
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Butyrylcholinesterase Deficiency
Paralysis, Chronic infection ORPHA:132
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia, Recurrent infections ORPHA:210128
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:612692
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis OMIM:606183
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis OMIM:606777
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619824
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Truncal ataxia, Dysmetria OMIM:617584
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:601859
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level OMIM:618523
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619752
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... ORPHA:449400
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level OMIM:147060
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating anti... OMIM:308240
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Increased circulating IgG level OMIM:243700
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Immunodeficiency 27A
Increased circulating IgM level, Increased circulating IgG level OMIM:209950
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Porphyria, Acute Hepatic
Paresthesia, Paralysis, Respiratory paralysis OMIM:612740
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Paralysis, Distal sensory impairment OMIM:613710
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating antibody ... OMIM:618969
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Myoclonus, Difficulty walking, Attention deficit hyperactivity disorder OMIM:619191
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Horner Syndrome, Congenital
Paralysis OMIM:143000
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... OMIM:618394
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:193670
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity OMIM:615924
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Vocal cord paralysis ORPHA:640
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination OMIM:617182
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Paralysis OMIM:605285
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:619924
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619281
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level OMIM:616005
Boutonneuse Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:83313
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... OMIM:619510
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level OMIM:618495
Immunodeficiency, Common Variable, 1
Impaired T cell function, Decreased circulating IgA level, Decreased circulating IgG level, Decre... OMIM:607594
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Recurrent respiratory infections, Motor ... OMIM:619927
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:603909
Proteasome-Associated Autoinflammatory Syndrome 2
Abnormal circulating IgM level, Increased circulating IgA level, Increased circulating IgG level OMIM:618048
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Acute Peripheral Arterial Occlusion
Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619774
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Myoclonus, ... ORPHA:248111
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgA level, Increased circulati... ORPHA:74
Caffey Disease
Increased circulating antibody level ORPHA:1310
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Recurrent otitis media OMIM:301076
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Vocal cord paralysis, Hand paresthesia OMIM:162500
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Neuronopathy, Distal Hereditary Motor, Type Viib
Vocal cord paralysis OMIM:607641
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Partial absence of specific antibody response to unconjugated pn... OMIM:240500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Decreased... OMIM:606367
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis OMIM:300857
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia OMIM:612716
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tremor, Impaired v... ORPHA:99947
Variegate Porphyria
Paralysis OMIM:176200
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... OMIM:613496
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Increased circulating IgG level OMIM:615816
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... ORPHA:158061
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Complement deficiency, Increased circulating IgG level, Inc... ORPHA:449432
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level OMIM:304790
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Simple Cryoglobulinemia
Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Incr... ORPHA:91139
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:600903
Lassa Fever
Increased circulating IgM level ORPHA:99824
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hyperactivity, Hemiparesis, Gait disturbance, Somatic sensory dysfunctio... ORPHA:43
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Absent specific antibody response, Decreased circulating total I... OMIM:102700
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Increased circulating IgE level, Defective T cell proliferation, Inc... OMIM:618213
Spinocerebellar Ataxia Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... ORPHA:98757
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis OMIM:614470
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Aspergillosis
Increased circulating IgE level ORPHA:1163
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level OMIM:617388
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level ORPHA:2314
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level OMIM:600351
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... ORPHA:540
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis ORPHA:681
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:616100
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis ORPHA:140989
Pgm3-Cdg
Increased circulating IgA level, Increased circulating IgG level, Reduced antigen-specific T cell... ORPHA:443811
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity ORPHA:330015
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Purine Nucleoside Phosphorylase Deficiency
Hypertonia, Ataxia, Hyperactivity, Spastic paraparesis, Cerebral palsy, Spasticity, Recurrent inf... ORPHA:760
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Decr... ORPHA:3261
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, Paraproteinemia ORPHA:329918
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Decre... ORPHA:508533
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Increased circulating IgM level OMIM:617303
Familial Cervical Artery Dissection
Paresthesia, Paralysis ORPHA:36382
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgM level, Increased circulating IgG level ORPHA:562639
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Absent isohemagglutinin level, Decreased serum complement C... OMIM:615559
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
X-Linked Lymphoproliferative Disease
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... ORPHA:2442
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Increased circulating IgG level OMIM:615934
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level ORPHA:2137
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:331206
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:301000
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Rift Valley Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:319251
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgA level... OMIM:619652
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spastic tet... OMIM:272750
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Increased circulating IgG ... ORPHA:29073
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Decreased serum complement C3, Complement deficiency, Decreased... ORPHA:449395
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Trichinellosis
Increased circulating IgE level ORPHA:863
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgM level, Increased circulating IgG l... ORPHA:297
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level ORPHA:275
Japanese Encephalitis
Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Increased circulating IgM level ORPHA:505248
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Leishmaniasis
Increased circulating antibody level ORPHA:507
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Clumsiness, Ankle clonus, Knee clonus, Tongue fasciculations, Vocal cord paralysis, Recur... OMIM:211530
Paragangliomas 2
Vocal cord paralysis OMIM:601650
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Increased circulating IgM level ORPHA:79078
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level ORPHA:37042
Machado-Joseph Disease Type 1
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... ORPHA:276238
Machado-Joseph Disease Type 2
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... ORPHA:276241
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:620040
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Glioblastoma
Paralysis ORPHA:360
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Increased circulating IgE level ORPHA:449563
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Immunodeficiency 97 With Autoinflammation
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619802
Primary Intestinal Lymphangiectasia
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:90362
Tularemia
Increased circulating antibody level ORPHA:3392
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level OMIM:608809
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Vocal cord paralysis OMIM:615490
Pneumocystosis
Increased circulating antibody level ORPHA:723
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Myoclonus, Paralysis ORPHA:83601
Snakebite Envenomation
Pseudobulbar paralysis, Paralysis, Respiratory paralysis ORPHA:449285
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:612301
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Coccidioidomycosis
Increased circulating IgM level, Increased circulating IgG level ORPHA:228123
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Hyperbil... ORPHA:542323
Machado-Joseph Disease Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... ORPHA:276244
Lymphoproliferative Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:613011
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Poliomyelitis
Paraparesis, Inability to walk, Hyperkinetic movements, Meningitis, Infectious encephalitis, Para... ORPHA:2912
Waldenström Macroglobulinemia
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:33226
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Prolidase Deficiency
Increased circulating antibody level OMIM:170100
Insulin-Resistance Syndrome Type B
Decreased serum complement factor B, Increased circulating IgA level, Increased circulating IgG l... ORPHA:2298
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Complement deficiency ORPHA:449427
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Decreased circulating IgA level, Decreased c... OMIM:614700
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level OMIM:301078
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Brucellosis
Increased circulating IgM level, Increased circulating IgG level ORPHA:1304
Hyperkalemic Periodic Paralysis
Hypertonia, Cerebral palsy, Gait disturbance, Paresthesia, Fasciculations, Periodic hyperkalemic ... ORPHA:682
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Mogs-Cdg
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:79330
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Inhalational Botulism
Paralysis ORPHA:254504
Amyotrophic Lateral Sclerosis
Paralysis, Spasticity ORPHA:803
Immunodeficiency 47
Decreased circulating total IgA, Decreased circulating total IgM, Chronic decreased circulating t... OMIM:300972
Porphyria, Acute Intermittent
Paresthesia, Paralysis, Respiratory paralysis OMIM:176000
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
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Paralysis, Myoclonus OMIM:203700
Crimean-Congo Hemorrhagic Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:99827
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level OMIM:617591
Yellow Fever
Increased circulating interleukin 6 concentration, Increased circulating IgM level ORPHA:99829
Scleromyxedema
Paraproteinemia ORPHA:167635
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG2 level, Decreased circulating IgG level, C... OMIM:242840
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgA level, Decreased circul... ORPHA:183675
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating tota... ORPHA:90363
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM ORPHA:420741
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:210900
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level OMIM:619472
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
Mgat2-Cdg
Impaired platelet aggregation, Decreased lymphocyte proliferation in response to mitogen, Decreas... ORPHA:79329
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Selective Igm Deficiency
Decreased specific antibody response to vaccination, Decreased circulating total IgM, Paraprotein... ORPHA:331235
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Periodic hypokalemic paresis, Tremor, Paralysis, Tetraplegia ORPHA:79102
Gitelman Syndrome
Paresthesia, Ataxia, Paralysis OMIM:263800
Encephalocraniocutaneous Lipomatosis
Hemiplegia, Hypertonia, Rigidity, Hemiparesis, Spasticity, Paralysis, Tetraplegia ORPHA:2396
Ataxia-Telangiectasia
Decreased circulating IgA level, Decreased circulating IgG2 level, Decreased circulating IgG leve... OMIM:208900
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Bloom Syndrome
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:125
Andersen-Tawil Syndrome
Periodic paralysis, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis ORPHA:37553
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:620005
Mevalonic Aciduria
Increased circulating IgD level OMIM:610377
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Impaired neutrophil chemot... ORPHA:3132
Q Fever
Increased circulating antibody level, Cryoglobulinemia ORPHA:781
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Decreased circulating total IgM ORPHA:369837
Cysticercosis
Increased circulating antibody level ORPHA:1560
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Gaucher Disease Type 3
Increased circulating antibody level ORPHA:77261
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level ORPHA:91500
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Periodic hypokalemic paresis OMIM:170390
Postinfectious Vasculitis
Increased circulating antibody level, Cryoglobulinemia, Increased circulating IgA level, Abnormal... ORPHA:48435
African Trypanosomiasis
Impaired proprioception, Akinesia, Hemiparesis, Gait disturbance, Tremor, Difficulty walking, Cho... ORPHA:3385
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Hypertonia, Limb ataxia, Spastic paraplegia, Paralysis, Oculomotor apraxia ORPHA:2072
Dubowitz Syndrome
Decreased circulating IgA level, Decreased circulating IgG level OMIM:223370
Primary Sjögren Syndrome
Increased circulating antibody level, Decreased serum complement C3, Complement deficiency, Decre... ORPHA:289390
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgA, Decre... OMIM:619381
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level OMIM:618278
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level OMIM:615846
Lysinuric Protein Intolerance
Increased circulating antibody level, Decreased circulating antibody level, Complement deficiency... ORPHA:470
Pineoblastoma
Paralysis ORPHA:251909
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Gaucher Disease
Increased circulating antibody level ORPHA:355
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM ORPHA:83617
Gitelman Syndrome
Paresthesia, Paralysis ORPHA:358
Marburg Hemorrhagic Fever
Increased circulating antibody level ORPHA:99826
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis ORPHA:91347
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Decreased circulating IgG level 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) Ifit2tm1(KOMP)Vlcg PMC7738193

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MGI Allele Allele Type Produced
Ifit2tm292778(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ifit2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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