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Gene: Ifit1 MGI:99450

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Gene Summary

Name:
interferon-induced protein with tetratricopeptide repeats 1
Synonyms:
ISG56,  Ifi56

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ifit1 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 Ifit1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Immunodeficiency 37
Decreased circulating antibody level, Colitis, Infectious encephalitis, Recurrent infections OMIM:616098
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 24
Recurrent viral infections, Severe varicella zoster infection, Decreased circulating IgG2 level, ... OMIM:615897
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... OMIM:618982
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Dysgammaglobulinemia, Elevated circulating C-reactive protein c... OMIM:308240
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in... OMIM:613500
Immunodeficiency 66
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Pfapa Syndrome
Recurrent pharyngitis, Infectious encephalitis, Arthritis, Weight loss ORPHA:42642
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
C1Q Deficiency 3
Discoid lupus rash, Recurrent bacterial meningitis OMIM:620322
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Hepatitis, Impair... OMIM:308230
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Meningitis OMIM:617900
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Recurrent herpes, Failure to thrive, Complete or near-complet... OMIM:607271
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Skin rash, Pneumonia, Recurrent bacterial meningitis, Reduced na... OMIM:300400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Panhypogammaglobulin... OMIM:601457
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... OMIM:619707
Immunodeficiency 46
Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Conjunctivitis,... OMIM:616740
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Agammaglobulinemia, X-Linked
Sepsis, Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Meningitis, I... OMIM:300755
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Meningitis OMIM:613002
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Increased circulating I... OMIM:605258
Lymphoproliferative Syndrome 2
Severe varicella zoster infection, Recurrent pneumonia, Sepsis, EBV encephalitis, Persistent EBV ... OMIM:615122
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... OMIM:240500
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... OMIM:300853
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Zika Virus Disease
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, M... ORPHA:448237
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Recurrent bacterial infections, Increased c... OMIM:608106
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... OMIM:614379
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Eczema, Recurrent infections OMIM:614493
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... ORPHA:540
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic tinea infection, Chronic oral candidiasis, Onychomycosis... OMIM:212050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Recurrent up... ORPHA:277
Idiopathic Bronchiectasis
Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia... ORPHA:60033
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial inf... OMIM:607594
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia ORPHA:1389
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in... OMIM:606843
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Unusual CNS infe... ORPHA:1163
Mulibrey Nanism
Cachexia ORPHA:2576
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Idiopathic Achalasia
Decreased prealbumin level, Recurrent aspiration pneumonia, Weight loss ORPHA:930
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Acute otitis media, Recurrent candida in... ORPHA:572
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Sepsis, Decreased circulating antibody level, Weight... ORPHA:33355
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... ORPHA:36234
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulointerstitial nephriti... ORPHA:139402
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... ORPHA:83471
Reticular Dysgenesis
Lack of T cell function, Sepsis, Impaired T cell function OMIM:267500
Lyme Disease
Arthritis, Meningitis, Infectious encephalitis, Uveitis ORPHA:91546
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respirator... OMIM:600802
Moynahan Syndrome
Cachexia ORPHA:2574
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Hemophagocytic Lymphohistiocytosis, Familial, 2
Skin rash, Reduced natural killer cell activity, Meningitis, Increased circulating ferritin conce... OMIM:603553
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Meningitis, Infectious encephalitis ORPHA:83317
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Sepsis, Nephritis, Infectious encephalitis, Brai... ORPHA:2552
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Unusual infection, Pneumonia, Myocarditis, ... ORPHA:781
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Sepsis, Tubulointerstitial nephritis, Colitis, Hypoalbuminemia, Meningitis, Psoriasifor... ORPHA:37042
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Congenital Enterovirus Infection
Skin rash, Meningitis, Myocarditis, Hepatitis, Sepsis, Hypoalbuminemia, Infectious encephalitis ORPHA:292
Meningococcal Meningitis
Skin rash, Infectious encephalitis, Sepsis, Elevated circulating C-reactive protein concentration ORPHA:33475
Legionnaires Disease
Pericarditis, Recurrent pharyngitis, Myocarditis, Hepatitis, Sepsis, Endocarditis, Bone marrow hy... ORPHA:549
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Typhoid
Skin rash, Infectious encephalitis ORPHA:99745
Hemophagocytic Lymphohistiocytosis, Familial, 1
Meningitis, Increased circulating ferritin concentration, Hypoalbuminemia, Failure to thrive, Hyp... OMIM:267700
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Eczema, Failure to thrive in infancy, Increased circulating IgE level,... OMIM:617241
Nocardiosis
Brain abscess, Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Meningitis, Severe infection, L... ORPHA:31204
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Whipple Disease
Myositis, Pericarditis, Cachexia, Myocarditis, Uveitis, Arthritis, Infectious encephalitis ORPHA:3452
Tuberculosis
Weight loss ORPHA:3389
Immunodeficiency 64 With Lymphoproliferation
Failure to thrive, Increased circulating IgA level, Bronchiectasis, Recurrent infections, Increas... OMIM:618534
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Failure to thrive in infancy, Skin rash, Recurrent viral infect... ORPHA:35078
Immunodeficiency 96
Eczema, Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Re... OMIM:619774
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis ORPHA:1194
Cerebral Visual Impairment
Unusual CNS infection, Meningitis, Infectious encephalitis ORPHA:447788
American Trypanosomiasis
Skin rash, Myocarditis, Infectious encephalitis ORPHA:3386
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Bullous Pemphigoid
Weight loss, Eczema, Psoriasiform dermatitis, Recurrent infections ORPHA:703
Brucellosis
Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Increased circulating... ORPHA:1304
Gm1 Gangliosidosis
Recurrent respiratory infections, Weight loss, Aspiration pneumonia, Failure to thrive, Infectiou... ORPHA:354
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Bronchiectasis, Decreased c... OMIM:618131
Hartnup Disease
Skin rash, Infectious encephalitis ORPHA:2116
Reynolds Syndrome
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis ORPHA:779
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Autoinflammation With Infantile Enterocolitis
Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural killer cell act... OMIM:616050
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiec... OMIM:242700
Listeriosis
Brain abscess, Unusual skin infection, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Meningiti... ORPHA:533
Focal Myositis
Myositis, Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Meningitis, Sepsis ORPHA:464370
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Pustule, Synovitis, Weight l... ORPHA:77297
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss, Recurrent infections ORPHA:704
Scedosporiosis
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... ORPHA:449280
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Mcdonough Syndrome
Cachexia ORPHA:2471
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia ORPHA:702
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent herpes, Inflammatory abnormality of the skin, Eczema,... ORPHA:391487
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Pneumonia, Impaired T cell function, Recurrent vir... OMIM:613179
Follicular Lymphoma
Meningitis, Weight loss ORPHA:545
Rift Valley Fever
Skin rash, Severe viral infection, Hepatitis, Uveitis, Increased circulating IgG level, Increased... ORPHA:319251
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Cachexia ORPHA:1933
Christianson Syndrome
Cachexia ORPHA:85278
Immunodeficiency 81
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Recurrent... OMIM:619374
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Skin rash, Recurrent viral infections, Lymphadenitis, Decreased ... ORPHA:331206
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Pe... ORPHA:47612
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Weight loss, Increased circulating IgG level, Increas... OMIM:209950
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Conju... ORPHA:3392
Renpenning Syndrome
Cachexia ORPHA:3242
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Weight loss ORPHA:100083
Japanese Encephalitis
Increased circulating IgM level, Meningitis, Infectious encephalitis, Increased circulating antib... ORPHA:79139
Zygomycosis
Brain abscess, Fasciitis, Unusual skin infection, Sinusitis, Pericarditis, Gastritis, Pustule, In... ORPHA:73263
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Cachexia ORPHA:42
Poliomyelitis
Meningitis, Infectious encephalitis, Myelitis ORPHA:2912
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Failure to thrive, Cachexia ORPHA:217346
Acute Disseminated Encephalomyelitis
Viral hepatitis, Disseminated viral infection, Severe parainfluenza infection, Herpes simplex enc... ORPHA:83597
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss ORPHA:100024
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Inflammatory Bowel Disease (Crohn Disease) 1
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... OMIM:266600
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Tetrasomy 12P
Cachexia ORPHA:884
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Pneumocystosis
Pneumocystis jirovecii pneumonia, Weight loss, Acute infectious pneumonia, Interstitial pneumonit... ORPHA:723
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Pustule, Recurrent tonsillitis, Atopic dermatitis, W... ORPHA:171876
Cysticercosis
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level ORPHA:1560
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Primary Intestinal Lymphangiectasia
Cryptococcal meningitis, Weight loss, Decreased circulating antibody level, Decreased circulating... ORPHA:90362
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Huntington Disease-Like 2
Weight loss ORPHA:98934
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... ORPHA:48435
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Immunodeficiency 68
Recurrent skin infections, Lymphadenitis, Sepsis, Recurrent meningitis, Septic arthritis OMIM:612260
Infantile Krabbe Disease
Failure to thrive, Cachexia, Recurrent infections ORPHA:206436
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Chronic Hiccup
Weight loss ORPHA:396
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Infectious encephalitis ORPHA:847
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis ORPHA:761
Alexander Disease
Failure to thrive, Infectious encephalitis ORPHA:58
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Isaacs Syndrome
Weight loss ORPHA:84142
Wolman Disease
Cachexia ORPHA:75233
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... ORPHA:449400
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Incontinentia Pigmenti
Keratitis, Infectious encephalitis, Uveitis, Skin rash ORPHA:464
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Aredyld Syndrome
Cachexia ORPHA:1133
Hirschsprung Disease
Failure to thrive in infancy, Sepsis, Weight loss ORPHA:388
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:54251
Adult-Onset Still Disease
Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pharyng... ORPHA:829
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Sepsis, Weight loss, Recurrent infections ORPHA:764
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Infectious encephalitis ORPHA:68
Cinca Syndrome
Skin rash, Elevated circulating C-reactive protein concentration, Uveitis, Arthritis, Meningitis OMIM:607115
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Crusting erythematous dermatitis, Synovitis... ORPHA:324625
Mast Cell Sarcoma
Mastocytosis, Weight loss ORPHA:66661
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Roifman Syndrome
Eczema, Recurrent pneumonia, Decreased circulating antibody level, Recurrent otitis media, Decrea... ORPHA:353298
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Ménétrier Disease
Helicobacter pylori infection, Weight loss, Hypoalbuminemia, Hypoproteinemia, Giant hypertrophic ... ORPHA:2494
Angiostrongyliasis
Increased circulating IgA level, Unusual CNS infection, Increased circulating specific IgE antibo... ORPHA:74
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... ORPHA:411703
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Primary Myelofibrosis
Cachexia ORPHA:824
Immunodeficiency 31C
Recurrent respiratory infections, Osteomyelitis, Eczema, Decreased lymphocyte proliferation in re... OMIM:614162
Leishmaniasis
Rhinitis, Increased circulating antibody level, Hypoalbuminemia, Weight loss ORPHA:507
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Hypoalbuminemia, Weight loss ORPHA:103910
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Impaired T cell function, Decreased specific ... OMIM:614576
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Xfe Progeroid Syndrome
Failure to thrive, Hypoalbuminemia, Cachexia OMIM:610965
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Recurrent ... OMIM:617718
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Rett Syndrome
Cachexia OMIM:312750
Epidermodysplasia Verruciformis, Susceptibility To, 5
Cryptococcal meningitis, Persistent human papillomavirus infection OMIM:618309
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... ORPHA:51636
Wiskott-Aldrich Syndrome
Recurrent herpes, Eczema, Increased circulating IgA level, Reduced natural killer cell activity, ... OMIM:301000
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Recurrent respiratory infections, Bone marrow hypocellularity, Weight loss ORPHA:3226
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, Osteomyelitis,... ORPHA:228119
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Eosinophilic Fasciitis
Myositis, Fasciitis, Arthritis, Weight loss ORPHA:3165
Erythrokeratodermia Variabilis
Skin rash, Weight loss ORPHA:317
Riddle Syndrome
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent viral infections, Recu... ORPHA:420741
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Weight loss ORPHA:1164
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj... OMIM:617321
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Atopic dermatitis, Elevated circulating C-reactive protein conce... ORPHA:2902
Huntington Disease-Like 2
Weight loss OMIM:606438
Pseudomyxoma Peritonei
Inflammation of the large intestine, Weight loss ORPHA:26790
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... OMIM:301074
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss ORPHA:312
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Infec... ORPHA:293987
Kaposi Sarcoma
Recurrent herpes, Skin rash, Weight loss ORPHA:33276
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Failure to thrive, Weight loss ORPHA:1842
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia, Weight loss ORPHA:98897
Classic Hodgkin Lymphoma
Skin rash, Bone marrow hypocellularity, Weight loss ORPHA:391
Thymoma
Myositis, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, ... ORPHA:99867
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Eosinophilic Gastroenteritis
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Atopic dermatitis, Weig... ORPHA:2070
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration,... ORPHA:90003
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia ORPHA:220295
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Colitis, Hypoalbuminemia, Recurrent absces... OMIM:619381
Melioidosis
Brain abscess, Unusual skin infection, Foot osteomyelitis, Pneumonia, Osteoarthritis, Sepsis, Hep... ORPHA:31202
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent pneumonia, Recurrent respiratory infections, Cachexia ORPHA:647
Polyarteritis Nodosa
Pericarditis, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Impaired T cell function, Recurrent candida infections OMIM:201100
Chronic Granulomatous Disease
Recurrent respiratory infections, Sinusitis, Eczema, Sepsis, Inflammatory abnormality of the eye,... ORPHA:379
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections, Obesity ORPHA:66628
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections, Obesity ORPHA:179494
Bannayan-Riley-Ruvalcaba Syndrome
Hashimoto thyroiditis, Cachexia ORPHA:109
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Uveitis, Inflammatory abnormality of the eye, Recurrent bacterial infect... ORPHA:36412
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Rheumatoid Arthritis
Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... ORPHA:91139
Sepsis In Premature Infants
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... ORPHA:90051
Juvenile Huntington Disease
Weight loss ORPHA:248111
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Impaired T cell function, Minimal change glomerulonephritis, Abnormal ... ORPHA:1830
Takayasu Arteritis
Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis, Weight loss ORPHA:3287
Arachnoiditis
Meningitis ORPHA:137817
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Cachexia, Decreased body weight ORPHA:800
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Retrobulbar optic neuritis, Meningitis, Uv... ORPHA:1451
Pleural Mesothelioma
Weight loss ORPHA:50251
Cystic Echinococcosis
Invasive parasitic infection, Unusual infection, Weight loss, Membranous nephropathy, Increased c... ORPHA:400
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Severe viral infection, Bronchiectasis, Weight loss, Keratoconjunctivitis sicc... ORPHA:79128
Holocarboxylase Synthetase Deficiency
Perioral eczema, Keratoconjunctivitis, Eczema, Weight loss ORPHA:79242
Perry Syndrome
Weight loss ORPHA:178509
Benign Recurrent Intrahepatic Cholestasis
Pancreatitis, Weight loss ORPHA:65682
Trisomy 18
Cachexia ORPHA:3380
Reactive Arthritis
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss... ORPHA:29207
Seckel Syndrome
Cachexia ORPHA:808
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Wilson Disease
Increased body weight, Hepatitis, Weight loss, Arthritis, Acute hepatitis, Failure to thrive ORPHA:905
Secondary Short Bowel Syndrome
Failure to thrive, Enterocolitis, Sepsis, Weight loss ORPHA:95427
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Small for gestational age, Se... ORPHA:99843
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ... OMIM:242840
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Weight loss ORPHA:133
Coccidioidomycosis
Pericarditis, Coccidioidal meningitis, Osteomyelitis, Pneumonia, Skin rash, Erythema nodosum, Inv... ORPHA:228123
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Cachexia ORPHA:79076
Stickler Syndrome
Recurrent respiratory infections, Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slende... ORPHA:828
Celiac Disease, Susceptibility To, 1
Eczema, Thyroiditis, Weight loss, Recurrent aphthous stomatitis, Stomatitis, Failure to thrive, D... OMIM:212750
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Acute pancreatitis, Pericarditis, Chilblains, Weight loss, Hy... OMIM:619487
Gorham-Stout Disease
Osteomyelitis, Meningitis ORPHA:73
Familial Mediterranean Fever
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Peritonitis, Erysi... OMIM:249100
Refractory Celiac Disease
Hypoproteinemia, Inflammatory abnormality of the skin, Hypoalbuminemia, Weight loss ORPHA:398063
Nodular Non-Suppurative Panniculitis
Panniculitis, Inflammatory abnormality of the eye, Weight loss ORPHA:33577
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Meningitis, Unusual CNS infection, Increas... ORPHA:297
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Maculopapular exanthema,... ORPHA:98850
Liposarcoma
Weight loss ORPHA:69078
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca,... ORPHA:809
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Rhabdoid Tumor
Weight loss ORPHA:69077
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Weight loss ORPHA:216866
Progeroid Short Stature With Pigmented Nevi
Small for gestational age, Allergic rhinitis, Impaired T cell function, Recurrent viral infection... OMIM:176690
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Pancreatitis, Weight loss ORPHA:188
Familial Glucocorticoid Deficiency
Weight loss, Recurrent urinary tract infections, Failure to thrive, Recurrent infections ORPHA:361
Osteosarcoma
Weight loss ORPHA:668
Huntington Disease-Like 1
Weight loss ORPHA:157941
Insulin-Resistance Syndrome Type B
Skin rash, Abnormality of body weight, Pneumonia, Increased circulating IgA level, Osteoarthritis... ORPHA:2298
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Cockayne Syndrome
Keratoconjunctivitis sicca, Malar rash, Cachexia ORPHA:191
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Thymic Carcinoma
Weight loss ORPHA:99868
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Giant Cell Arteritis
Pericarditis, Recurrent pharyngitis, Weight loss, Arthritis, Meningitis ORPHA:397
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Weigh... ORPHA:183
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Pericarditis, Sinusitis, Skin rash, Increased inflammatory resp... ORPHA:900
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Polymyositis
Arthritis, Pericarditis, Elevated circulating creatine kinase concentration, Weight loss ORPHA:732
Marfan Syndrome
Arthralgia/arthritis, Slender build, Cachexia ORPHA:558
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis, Failure to thrive, Weight loss ORPHA:92050
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Weight loss, Increased cir... ORPHA:29073
Acute Promyelocytic Leukemia
Chronic infection, Stomatitis, Weight loss ORPHA:520
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Increased circulating ferritin concentratio... OMIM:615846
Malt Lymphoma
Recurrent respiratory infections, Posterior uveitis, Weight loss ORPHA:52417
Orotic Aciduria
Failure to thrive, Impaired T cell function OMIM:258900
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Bacterial endocarditis ORPHA:2072
Peripheral Primitive Neuroectodermal Tumor
Pancreatitis, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concen... ORPHA:370348
Acrodermatitis Enteropathica
Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis ORPHA:37
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Increased circulating interleukin 6 concentration, Pneumonia, Myocarditis, Severe ... ORPHA:544482
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Hypoalbuminemia, Acute colitis, Weight loss ORPHA:67
Loeffler Endocarditis
Pericarditis, Weight loss ORPHA:75566
Camurati-Engelmann Disease
Slender build, Cachexia ORPHA:1328
Progressive Multifocal Leukoencephalopathy
Meningitis ORPHA:217260
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Keratitis, Weight loss, Aspiration pneumonia, Failure to thrive ORPHA:1018
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Weight loss, ... ORPHA:85408
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arthritis,... OMIM:181000
Budd-Chiari Syndrome
Peritonitis, Cholecystitis, Weight loss ORPHA:131
Nephroblastoma
Weight loss ORPHA:654
Late-Onset Isolated Acth Deficiency
Hepatitis, Sepsis, Weight loss, Failure to thrive, Hashimoto thyroiditis ORPHA:199299
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss ORPHA:747
Trichinellosis
Skin rash, Conjunctivitis, Increased circulating IgE level, Meningitis ORPHA:863
Proteus Syndrome
Cachexia, Recurrent infections ORPHA:744
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration, Elevated c... ORPHA:93672
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Sinusitis, Eczema, Keratitis, Sepsis, Arthritis, Inflammation o... ORPHA:906
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Arthritis, Weight loss ORPHA:465508
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media OMIM:608710
Al Amyloidosis
Increased circulating antibody level, Increased circulating NT-proBNP concentration, Hypoalbumine... ORPHA:85443
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Hepatitis, Uveitis, Polyclonal elevation of IgM, Weight l... ORPHA:171
Solitary Fibrous Tumor
Reduced C-peptide level, Weight loss ORPHA:2126
Kawasaki Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Hepatitis, Cheilitis, Arthritis, Con... ORPHA:2331
Perry Syndrome
Weight loss OMIM:168605
Stevens-Johnson Syndrome
Recurrent respiratory infections, Sepsis, Weight loss, Conjunctivitis, Pancreatitis ORPHA:36426
Imerslund-Gräsbeck Syndrome
Failure to thrive, Angular cheilitis, Weight loss ORPHA:35858
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Erysipelas, Arthritis, Meningitis... ORPHA:342
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Weight ... ORPHA:79078
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Weight loss ORPHA:677
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Oromandibular Dystonia
Weight loss ORPHA:93958
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Sepsis, Weight loss, Conjunctivitis, Pancreatitis ORPHA:537
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Fatal Familial Insomnia
Weight loss OMIM:600072
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Elevated circulating C... ORPHA:49041
Acute Adrenal Insufficiency
Recurrent acute respiratory tract infection, Failure to thrive, Increased circulating renin level... ORPHA:95409
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Hypoalbuminemia, Cachexia ORPHA:75565
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Cholangitis, Weight loss ORPHA:284
Poems Syndrome
Increased circulating antibody level, Weight loss ORPHA:2905
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Tubulointerstitial nephritis, Weight loss ORPHA:85450
Cryptococcosis
Osteomyelitis, Pneumonia, Meningitis, Peritonitis, Sepsis, Prostatitis ORPHA:1546
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Primary Hepatic Neuroendocrine Carcinoma
Elevated carcinoembryonic antigen level, Elevated circulating alpha-fetoprotein concentration, We... ORPHA:100085
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Bronchial Neuroendocrine Tumor
Pneumonia, Weight loss ORPHA:97287
Kikuchi-Fujimoto Disease
Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Myocarditis, Weight lo... ORPHA:50918
Malignant Atrophic Papulosis
Peritonitis, Arteritis, Weight loss ORPHA:679
Short Syndrome
Weight loss ORPHA:3163
Pituitary Dermoid And Epidermoid Cysts
Meningitis ORPHA:91351
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Klatskin Tumor
Weight loss ORPHA:99978
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Tropical Pancreatitis
Chronic calcifying pancreatitis, Weight loss ORPHA:103918
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein co... ORPHA:91500
Caroli Disease
Abnormal circulating alpha-fetoprotein concentration, Cholangitis, Weight loss ORPHA:53035
Castleman Disease
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:160
Norrie Disease
Failure to thrive, Cachexia ORPHA:649
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Gallbladder Neuroendocrine Tumor
Cholecystitis, Weight loss ORPHA:100086
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Plague
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Sepsis, Enterocolitis, Endocarditis, Acu... ORPHA:707
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Weight loss ORPHA:20
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Weight loss ORPHA:98849
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Failure to thrive, Aspiration pneumonia, Weight loss ORPHA:2020
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Weight loss OMIM:613673
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Mucolipidosis Type Ii
Recurrent respiratory infections, Otitis media, Weight loss ORPHA:576
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mildly elevated creatine kinase, Weight loss OMIM:607459
Acute Transverse Myelitis
Invasive parasitic infection, Severe viral infection, Disseminated nontuberculous mycobacterial i... ORPHA:139417
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Myocarditis, Weight loss, Arthritis ORPHA:221
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Weight loss ORPHA:309031
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Weight loss ORPHA:35687
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Leptospirosis
Pericarditis, Skin rash, Hepatitis, Uveitis, Hyperproteinemia, Optic neuritis, Meningitis ORPHA:509
22Q11.2 Deletion Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Obesity, Arthritis, Chronic otitis media, ... ORPHA:567
Polycythemia Vera
Weight loss ORPHA:729
Lynch Syndrome
Weight loss ORPHA:144
Thyrotoxic Periodic Paralysis
Obesity, Mildly elevated creatine kinase, Weight loss ORPHA:79102
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis ORPHA:2237
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Recurrent pneumonia, Obesity, Recurrent in... OMIM:188400
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Addison Disease
Failure to thrive, Increased circulating renin level, Hashimoto thyroiditis, Weight loss ORPHA:85138
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Oculopharyngodistal Myopathy 1
Elevated circulating creatine kinase concentration, Weight loss OMIM:164310
Familial Thrombocytosis
Weight loss ORPHA:71493
Chronic Graft Versus Host Disease
Fasciitis, Urinary bladder inflammation, Bronchiectasis, Weight loss, Recurrent infections, Arthr... ORPHA:99921
Pulmonary Alveolar Microlithiasis
Increased circulating surfactant protein level, Bronchiectasis, Weight loss ORPHA:60025
Hydranencephaly
Meningitis ORPHA:2177
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Fanconi Anemia
Recurrent urinary tract infections, Weight loss ORPHA:84
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Sacral Defect With Anterior Meningocele
Meningitis OMIM:600145
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Glucagonoma
Stomatitis, Skin rash, Weight loss ORPHA:97280
Parathyroid Carcinoma
Pancreatitis, Weight loss ORPHA:143
Zollinger-Ellison Syndrome
Esophagitis, Weight loss ORPHA:913
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
African Trypanosomiasis
Pericarditis, Keratitis, Myocarditis, Weight loss, Optic neuritis, Conjunctivitis, Iritis, Myelitis ORPHA:3385
Ppoma
Weight loss ORPHA:97278
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss OMIM:219800
Sarcoidosis
Maculopapular exanthema, Erythema nodosum, Bronchiectasis, Uveitis, Weight loss, Tubulointerstiti... ORPHA:797
Somatostatinoma
Weight loss ORPHA:97283
Grfoma
Weight loss ORPHA:97261
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Increased body weight, Recurrent cutaneous fungal infections, Weight loss, Truncal obesity,... ORPHA:99889
Vipoma
Weight loss ORPHA:97282
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Acne, Weight loss ORPHA:90794
Choreoacanthocytosis
Arthritis, Elevated circulating creatine kinase concentration, Weight loss ORPHA:2388
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Osteoarthritis, Weight loss ORPHA:740
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Multiple Endocrine Neoplasia Type 1
Weight loss ORPHA:652
Goodpasture Syndrome
Glomerulonephritis, Weight loss OMIM:233450

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 Ifit1

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 Ifit1.

There are 12 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
IFIT1 Exerts Opposing Regulatory Effects on the Inflammatory and Interferon Gene Programs in LPS-Activated Human Macrophages. Cell reports (October 2018) Ifit1tm1(KOMP)Vlcg PMC6492923
Human and Murine IFIT1 Proteins Do Not Restrict Infection of Negative-Sense RNA Viruses of the Orthomyxoviridae, Bunyaviridae, and Filoviridae Families. Journal of virology (July 2015) Ifit1tm1(KOMP)Vlcg PMC4542382
Sendai virus pathogenesis in mice is prevented by Ifit2 and exacerbated by interferon. Journal of virology (September 2014) Ifit1tm1(KOMP)Vlcg PMC4248979
A viral RNA structural element alters host recognition of nonself RNA. Science (New York, N.Y.) (January 2014) Ifit1tm1(KOMP)Vlcg PMC4209899
Attenuation and restoration of severe acute respiratory syndrome coronavirus mutant lacking 2'-o-methyltransferase activity. Journal of virology (January 2014) Ifit1tm1(KOMP)Vlcg PMC3993736
Host-cell sensors for Plasmodium activate innate immunity against liver-stage infection. Nature medicine (December 2013) Ifit1tm1(KOMP)Vlcg PMC4096771
Ifit2 deficiency results in uncontrolled neurotropic coronavirus replication and enhanced encephalitis via impaired alpha/beta interferon induction in macrophages. Journal of virology (November 2013) Ifit1tm1(KOMP)Vlcg PMC3911674
Sequestration by IFIT1 impairs translation of 2'O-unmethylated capped RNA. PLoS pathogens (October 2013) Ifit1tm1(KOMP)Vlcg PMC3789756
Interferon-induced Ifit2/ISG54 protects mice from lethal VSV neuropathogenesis. PLoS pathogens (May 2012) Ifit1tm1(KOMP)Vlcg PMC3355090
2'-O methylation of the viral mRNA cap by West Nile virus evades ifit1-dependent and -independent mechanisms of host restriction in vivo. PLoS pathogens (May 2012) Ifit1tm1(KOMP)Vlcg PMC3349756
IFIT1 is an antiviral protein that recognizes 5'-triphosphate RNA. Nature immunology (June 2011) Ifit1tm1(KOMP)Vlcg 21642987
2'-O methylation of the viral mRNA cap evades host restriction by IFIT family members. Nature (November 2010) Ifit1tm1(KOMP)Vlcg PMC3058805

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MGI Allele Allele Type Produced
Ifit1em1(IMPC)Bay Exon Deletion Mice
Ifit1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Ifit1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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