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Gene: Tia1 MGI:107914

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Gene Summary

Name:
cytotoxic granule-associated RNA binding protein 1
Synonyms:
mTIA-1,  2310050N03Rik

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 Tia1 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.

The table below shows human diseases associated to Tia1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Welander Distal Myopathy
OMIM:604454
Distal Myopathy, Welander Type
ORPHA:603
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
OMIM:619133

The table below shows human diseases predicted to be associated to Tia1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Glycoprotein Storage Disease
Gout OMIM:232900
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... OMIM:607850
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints ORPHA:50809
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... OMIM:105835
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Osteochondrosis Of The Tarsal Bone
Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti... ORPHA:563991
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... OMIM:208250
Congenital Atransferrinemia
Arthritis ORPHA:1195
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation... ORPHA:2619
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os... ORPHA:1416
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Mueller-Weiss Syndrome
Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Limitation of movement at... ORPHA:566943
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Progressive joint destruction, Joint stiffness, Chondritis, Osteochondros... ORPHA:564003
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,... ORPHA:85435
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Osteoarthritis With Mild Chondrodysplasia
Knee osteoarthritis, Hip osteoarthritis, Joint stiffness, Heberden's node OMIM:604864
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Bullous Impetigo
Pustule, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Dracunculiasis
Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Recurrent cutaneous absc... ORPHA:231
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Cranio-Osteoarthropathy
Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of... ORPHA:1525
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Limitation of joint mobility, Joint stiffness, Genu valgum, Abno... ORPHA:93308
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Mucopolysaccharidosis, Type Ix
Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobility, Periarti... OMIM:601492
Vertical Talus, Congenital
Arthritis OMIM:192950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elbow flexion contracture, Knee flexion contracture, Arthritis, Colitis, Sterile arthritis, Cysti... OMIM:604416
Beukes Hip Dysplasia
Shallow acetabular fossae, Osteoarthritis OMIM:142669
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Abnormal hip joint morphology, Limited elbow extension, Limited ... OMIM:600969
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Abnormalit... ORPHA:2114
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Arthritis ORPHA:2582
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Synovitis, Glomerulonephritis, Arthritis, Serositis ORPHA:567544
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis OMIM:601457
Papa Syndrome
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Myositis, Pustule... ORPHA:69126
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:130060
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis OMIM:616833
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility OMIM:130020
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis ORPHA:2762
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Osteochondritis dissecans, Premature osteoarthritis OMIM:165800
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o... ORPHA:85408
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Abnormality of the ankle, Joint hypermobility, Knee osteoarthritis, Oligoar... ORPHA:85410
Pseudoachondroplasia
Delayed epiphyseal ossification, Irregular acetabular roof, Joint stiffness, Genu valgum, Increas... ORPHA:750
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis OMIM:609939
Dysplasia Epiphysealis Hemimelica
Joint stiffness, Genu valgum, Recurrent fractures, Osteoarthritis, Tarsal synostosis, Genu varum ORPHA:1822
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Melorheostosis
Increased bone mineral density, Joint stiffness, Ectopic ossification in muscle tissue, Arthritis ORPHA:2485
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the ankle, Genu valgum, Abnormality of the epiphyses of the elbow, Osteoarthritis,... ORPHA:166002
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, Anterior uveitis ORPHA:85414
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Joint swelling, Osteolytic defects of the phalanges of th... OMIM:228000
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hypermobility ORPHA:63442
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Epiphyseal Dysplasia, Multiple, 1
Delayed epiphyseal ossification, Hip osteoarthritis, Limited hip movement, Joint stiffness, Genu ... OMIM:132400
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Bronchiectasis OMIM:620321
Dysspondyloenchondromatosis
Joint dislocation, Genu valgum, Generalized joint hypermobility, Osteoarthritis, Enlarged joints ORPHA:85198
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Arthritis OMIM:616414
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:270150
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Lesch-Nyhan Syndrome
Gout ORPHA:510
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu valgum, Generalized osteoscleros... ORPHA:53
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Genu valgum, Delayed tarsal ossification, Delayed ossification of carpa... OMIM:607078
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Arthritis, Skin rash, Erythema nodosum OMIM:611762
Isolated Agammaglobulinemia
Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Re... ORPHA:229717
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis OMIM:152700
Progressive Pseudorheumatoid Dysplasia
Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Enlarged interphalangeal... OMIM:208230
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis ORPHA:1345
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Recurr... ORPHA:33110
Hypochondroplasia
Abnormality of the elbow, Genu varum, Osteoarthritis, Joint hypermobility ORPHA:429
Familial Cold Autoinflammatory Syndrome 1
Conjunctivitis, Skin rash, Arthritis, Uveitis OMIM:120100
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip osteoarthritis, Limited hip movement, Hip contracture, Abnormality of the knee, Hip subluxati... ORPHA:99642
Neuropathy, Hereditary Sensory And Autonomic, Type V
Painless fractures due to injury, Osteomyelitis, Arthropathy, Osteoarthritis, Septic arthritis, R... OMIM:608654
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... ORPHA:324964
Pfapa Syndrome
Arthritis, Infectious encephalitis ORPHA:42642
Multiple Epiphyseal Dysplasia Type 5
Premature osteoarthritis, Limited hip movement, Genu valgum, Joint stiffness, Intervertebral disk... ORPHA:93311
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Chronic sinusitis, Arthritis, Bronchiectasis ORPHA:397596
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ... OMIM:617321
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Sapho Syndrome
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... ORPHA:793
Felty Syndrome
Recurrent pneumonia, Limitation of joint mobility, Abnormal joint morphology, Osteolysis, Episcle... ORPHA:47612
Schnitzler Syndrome
Increased bone mineral density, Skin rash, Arthritis ORPHA:37748
Eosinophilic Fasciitis
Myositis, Arthritis, Fasciitis ORPHA:3165
Zika Virus Disease
Myelitis, Ankle swelling, Wrist swelling, Skin rash, Infectious encephalitis, Arthritis, Conjunct... ORPHA:448237
Enthesitis-Related Juvenile Idiopathic Arthritis
Hip osteoarthritis, Abnormality of the ankle, Anterior uveitis, Sacroiliac arthritis, Abnormal hi... ORPHA:85438
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bronchiectasis, Osteoarthritis, Joint hypermobility OMIM:620080
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... ORPHA:31205
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling... OMIM:186580
Immunodeficiency 68
Septic arthritis, Recurrent skin infections, Lymphadenitis OMIM:612260
Familial Cold Urticaria
Conjunctivitis, Arthritis ORPHA:47045
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Limited elbow extension, Osteoarthritis, Capitate-hamate fusion OMIM:271650
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Wild Type Abeta2M Amyloidosis
Arthritis, Arthropathy ORPHA:85446
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, C... ORPHA:47
Cinca Syndrome
Patellar overgrowth, Skin rash, Arthritis, Uveitis OMIM:607115
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Limitation of joint mobility, Polyarticular arthritis, Sacroiliac arthritis, Abnormality... ORPHA:85436
Ulnar Hemimelia
Abnormality of the humeroulnar joint, Carpal synostosis, Limited elbow flexion, Elbow flexion con... ORPHA:93320
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Polyarticular arthritis, Skin rash, Myositis, Oligoarthritis, Conjunctivitis, Maculop... OMIM:142680
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, D... ORPHA:39812
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Joint stiffness, Genu valgum, Abnormal acetabulum morphology, Abnor... ORPHA:166011
Hemochromatosis, Type 3
Arthritis OMIM:604250
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Arthropathy, Wormian bones, Oste... OMIM:259100
Psoriasis 14, Pustular
Polyarticular arthritis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Cholangitis OMIM:614204
Insulin Autoimmune Syndrome
Arthralgia/arthritis ORPHA:411593
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, Arthritis OMIM:619423
Stickler Syndrome Type 1
Osteoarthritis, Joint hypermobility ORPHA:90653
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho... OMIM:301054
Muckle-Wells Syndrome
Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Arthritis, Conju... ORPHA:575
Dermatoosteolysis, Kirghizian Type
Keratitis, Abnormality of the wrist, Osteoarthritis, Tarsal synostosis, Osteolysis ORPHA:1657
Anti-Glomerular Basement Membrane Disease
Arthritis ORPHA:375
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bones, Increased susceptibi... ORPHA:371428
Scedosporiosis
Pneumonia, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Perica... ORPHA:449280
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Eczematoid dermatitis, Psoriasiform dermatitis, Crohn's disease, Arthritis, B... OMIM:616100
Alpha-Mannosidosis
Synostosis of joints, Chronic otitis media, Arthritis ORPHA:61
Nail-Patella Syndrome
Contracture of the distal interphalangeal joint of the fingers, Patellar aplasia, Patellar disloc... ORPHA:2614
Lyme Disease
Infectious encephalitis, Joint swelling, Arthritis, Uveitis ORPHA:91546
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Septic arthritis... OMIM:610984
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Prostatitis, Acute infect... ORPHA:31202
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Increased susceptibility to fractures, Synov... ORPHA:77297
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Polyarticular arthropathy, ... ORPHA:2848
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Membranous nephropathy, Arthritis, Recurrent sinusitis OMIM:615559
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Delayed epiphyseal ossification, Multiple joint dislocation, Hip subluxation, Elbow flexion contr... ORPHA:93360
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... OMIM:614700
Roifman-Chitayat Syndrome
Pneumonia, Osteopenia, Arthritis OMIM:613328
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Arthritis OMIM:184100
Aortic Aneurysm, Familial Thoracic 12
Arthritis OMIM:619825
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu recurvatum, Ulnar deviation of the wrist, Genu valgum, Limi... OMIM:177170
Takayasu Arteritis
Inflammatory abnormality of the eye, Increased inflammatory response, Arthritis ORPHA:3287
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Episcleritis, Skin rash, Arthritis, Inflammatory abnormality of the eye, Conju... ORPHA:36412
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Recurrent pneumonia, Eczematoid dermatitis OMIM:617780
Antisynthetase Syndrome
Joint dislocation, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis ORPHA:81
Autoimmune Hepatitis
Inflammation of the large intestine, Sclerosing cholangitis, Glomerulonephritis, Arthritis, Acute... ORPHA:2137
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he... OMIM:307200
Behcet Syndrome
Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis OMIM:109650
Microscopic Polyangiitis
Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art... ORPHA:727
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Recurrent sinusitis, Joint hypermobility, Osteoarthritis, Hyperextensibility o... OMIM:130000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Arthritis ORPHA:411543
Mixed Connective Tissue Disease
Joint stiffness, Skin rash, Joint swelling, Myositis, Gastritis, Keratoconjunctivitis sicca, Arth... ORPHA:809
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Myositis, Arthritis, Sinusitis, Conjunctivitis, Flexion contracture, Panniculitis OMIM:617591
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encephalitis, Myositis, Myo... ORPHA:36234
Laron Syndrome
Osteoarthritis, Abnormality of the elbow ORPHA:633
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, J... OMIM:618000
Stickler Syndrome, Type I
Joint stiffness, Joint hypermobility, Arthropathy, Osteoarthritis, Arthritis OMIM:108300
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Acne, Osteoarthritis ORPHA:77296
Adult-Onset Still Disease
Hepatitis, Interstitial pneumonitis, Skin rash, Joint swelling, Arthritis, Arthralgia/arthritis, ... ORPHA:829
Desbuquois Dysplasia 1
Joint dislocation, Advanced tarsal ossification, Joint hypermobility, Phalangeal dislocation, Ost... OMIM:251450
Reactive Arthritis
Inflammation of the large intestine, Osteomyelitis, Joint stiffness, Recurrent aphthous stomatiti... ORPHA:29207
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Peritonitis, Limitation of joint mobility, Arthritis ORPHA:343
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Erythroderma, Glomerulonephritis, Arthritis OMIM:304790
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Hyperuricemia, Hprt-Related
Podagra OMIM:300323
Severe Hemophilia A
Limitation of joint mobility, Progressive joint destruction, Joint swelling, Synovitis, Limb join... ORPHA:169802
Wilson Disease
Hepatitis, Pathologic fracture, Joint swelling, Arthritis, Acute hepatitis ORPHA:905
Rheumatic Fever
Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericarditis ORPHA:3099
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Limitation of joint mobility ORPHA:399180
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, A... OMIM:203500
Rheumatoid Arthritis
Joint stiffness, Rheumatoid arthritis, Joint swelling, Polyarticular arthritis OMIM:180300
Reynolds Syndrome
Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis ORPHA:779
Moderate Hemophilia A
Limitation of joint mobility, Joint swelling, Hip contracture, Arthropathy, Synovitis, Joint hemo... ORPHA:169805
Pachydermoperiostosis
Limitation of joint mobility, Eczematoid dermatitis, Osteolysis, Osteomyelitis, Joint swelling, S... ORPHA:2796
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Erythroderma, Eczematoid dermatitis OMIM:619510
Fusariosis
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Peritonitis, A... ORPHA:228119
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule ORPHA:48104
Generalized Pustular Psoriasis
Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Uveitis ORPHA:247353
Kid Syndrome
Posterior blepharitis, Folliculitis, Acne inversa, Keratitis, Patellar hypoplasia, Psoriasiform d... ORPHA:477
Adiposis Dolorosa
Recurrent skin infections, Arthritis ORPHA:36397
Otospondylomegaepiphyseal Dysplasia
Limitation of joint mobility, Abnormal joint morphology, Enlarged joints, Osteoarthritis, Abnorma... ORPHA:1427
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Increased inflammatory response, Myositis, Myocarditis, Arthritis, Sinusitis, Tubuloin... ORPHA:183
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Arthritis, Viral hepatitis ORPHA:91138
Relapsing Polychondritis
Uveitis, Limitation of joint mobility, Hepatitis, Keratitis, Recurrent aphthous stomatitis, Chond... ORPHA:728
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint stiffness, Joint swelling, Arthropathy, Arthritis, Osteoporosis, Stiff interphalangeal joints ORPHA:465508
Dowling-Degos Disease
Acne inversa, Arthritis ORPHA:79145
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Malar rash, Skin rash, Myositis, Arthritis ORPHA:93552
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Genu varum, Osteoarthritis OMIM:602111
Hereditary Xanthinuria
Rheumatoid arthritis, Gout, Arthropathy ORPHA:3467
Whipple Disease
Infectious encephalitis, Myositis, Arthritis, Myocarditis, Pericarditis, Uveitis ORPHA:3452
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Skin rash, Otitis media, Hashimoto thyroiditis, Juvenile rheumatoi... ORPHA:275
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Osteolysis, Arthritis ORPHA:220393
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Abnormal sacroiliac j... ORPHA:32960
Chikungunya
Joint stiffness, Skin rash, Maculopapular exanthema, Joint swelling, Crusting erythematous dermat... ORPHA:324625
Hemophilia A
Joint hemorrhage, Osteoarthritis OMIM:306700
Localized Scleroderma
Fasciitis, Sclerosis of finger phalanx, Esophagitis, Hashimoto thyroiditis, Arthritis, Flexion co... ORPHA:90289
Farber Disease
Abnormality of the wrist, Joint swelling, Arthritis, Abnormality of the knee, Osteoporosis, Flexi... ORPHA:333
Subcorneal Pustular Dermatosis
Pustule, Rheumatoid arthritis ORPHA:48377
Polymyositis
Chondrocalcinosis, Arthritis, Pericarditis ORPHA:732
Overlap Myositis
Subluxation of the small joints of the hand, Rheumatoid arthritis, Arthritis ORPHA:206572
Immunodeficiency 67
Septic arthritis OMIM:607676
Brucellosis
Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Infectious encepha... ORPHA:1304
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Genu valgum, Hypophosphatemic rickets, Osteoarthritis OMIM:307800
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Stiff ankle, Elbow flexion contracture, Premature osteoarthritis, D... ORPHA:93307
Glycogen Storage Disease Vii
Gout OMIM:232800
Congenital Tufting Enteropathy
Punctate keratitis, Arthritis ORPHA:92050
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... OMIM:300755
Hemophilia B
Joint hemorrhage, Osteoarthritis OMIM:306900
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,... OMIM:301074
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Genu valgum, Generalized osteo... ORPHA:89936
Shigellosis
Pneumonia, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Acute colitis... ORPHA:810
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal enchondral ossification, Premature osteoarthritis, Abno... ORPHA:93314
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Flexion contracture, Recurrent pneumonia, Enlarged joints OMIM:215150
Systemic Sclerosis
Osteomyelitis, Joint swelling, Osteolytic defects of the phalanges of the hand, Glomerulonephriti... ORPHA:90291
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Congenital Syphilis
Pneumonia, Keratitis, Synovitis, Osteochondrosis, Pancreatitis, Myocarditis, Rhinitis, Maculopapu... ORPHA:499009
Idiopathic Camptocormia
Myositis, Myelitis, Osteoarthritis, Abnormal inflammatory response ORPHA:1320
Selective Igm Deficiency
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Rheumatoid arthritis, Lymphadenitis, C... ORPHA:331235
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Pericarditis OMIM:249100
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Premature osteoarthritis, Joint hypermobility, Generalized bone ... ORPHA:93352
Giant Cell Arteritis
Joint stiffness, Arthritis, Pericarditis ORPHA:397
Hyper-Igd Syndrome
Lymphadenitis, Skin rash, Serositis, Arthritis, Chronic oral candidiasis OMIM:260920
Familial Mediterranean Fever
Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthritis, Pericarditis ORPHA:342
Coccidioidomycosis
Pneumonia, Folliculitis, Morbilliform rash, Osteomyelitis, Skin rash, Peritonitis, Pancreatitis, ... ORPHA:228123
Listeriosis
Pneumonia, Arteritis, Stiff neck, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectious enceph... ORPHA:533
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Psoriasiform dermatitis, Arthritis, Recurrent aspiration pneumonia, Chronic oral cand... ORPHA:221139
Catastrophic Antiphospholipid Syndrome
Myocarditis, Arthritis ORPHA:464343
Simple Cryoglobulinemia
Nephritis, Membranoproliferative glomerulonephritis, Arthritis, Pericarditis, Viral hepatitis ORPHA:91139
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis ORPHA:761
Behçet Disease
Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis... ORPHA:117
Juvenile Dermatomyositis
Limitation of joint mobility, Skin rash, Myositis, Arthritis, Pericarditis ORPHA:93672
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, Arthritis ORPHA:420741
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Pustular rash, Hepatitis, Osteomalacia, Recurrent otitis media, Osteomyelitis, Skin ra... OMIM:619381
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczematoid dermatitis, Recurrent otitis media, Skin rash, Recurrent sinusitis, Hashimoto thyroidi... OMIM:615688
Alkaptonuria
Joint dislocation, Joint stiffness, Increased susceptibility to fractures, Joint swelling, Prosta... ORPHA:56
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand OMIM:190350
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Otitis media,... ORPHA:906
Primary Sjögren Syndrome
Arteritis, Parotitis, Chronic active hepatitis, Polyarticular arthropathy, Lymphocytic interstiti... ORPHA:289390
Gaucher Disease Type 1
Osteopenia, Pathologic fracture, Osteoarthritis, Osteoporosis, Osteolysis ORPHA:77259
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Ankle swelling, Eczematoid dermatitis, Joint swelling, Coli... ORPHA:3260
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Skin rash, Osteolysis ORPHA:100026
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl... ORPHA:48435
Marshall Syndrome
Genu valgum, Osteoarthritis ORPHA:560
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hypermobil... OMIM:619656
Blau Syndrome
Posterior uveitis, Limitation of joint mobility, Keratitis, Polyarticular arthritis, Camptodactyl... ORPHA:90340
Loeys-Dietz Syndrome 5
Joint hypermobility, Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finge... OMIM:615582
Dysbetalipoproteinemia
Acute pancreatitis, Gout ORPHA:412
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Chilblains, Skin rash, Arthritis OMIM:615846
Hereditary Spherocytosis
Maculopapular exanthema, Gout ORPHA:822
Glycogen Storage Disease Ia
Osteoporosis, Pancreatitis, Gout OMIM:232200
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Arthritis OMIM:161700
Glycogen Storage Disease Ib
Osteoporosis, Inflammation of the large intestine, Pancreatitis, Gout OMIM:232220
Autoimmune Lymphoproliferative Syndrome
Hepatitis, Recurrent aphthous stomatitis, Gastritis, Glomerulonephritis, Arthritis, Colitis, Pann... ORPHA:3261
Sitosterolemia 1
Arthritis OMIM:210250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Gout OMIM:174000
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Osteomalacia, Joint stiffness, Genu valgum, Recurrent fractures, Joint swelling, J... ORPHA:534
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Skin rash, Keratoconjunctivitis sicca, Bronchiectasis ORPHA:79128
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Inflammation of the large intestine, Periodontitis, Gout, Increased susceptibility to... ORPHA:79259
Multiple Osteochondromas
Limitation of joint mobility, Talipes valgus, Limited hip movement, Genu valgum, Femoroacetabular... ORPHA:321
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis ORPHA:589
Kawasaki Disease
Hepatitis, Skin rash, Cholecystitis, Arthritis, Myocarditis, Conjunctivitis, Cheilitis, Pericarditis ORPHA:2331
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun... ORPHA:707
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Sclerosis of skull base, Joint swelling,... OMIM:607944
Thymoma
Myositis, Rheumatoid arthritis, Glomerulonephritis, Ulcerative colitis ORPHA:99867
Systemic Lupus Erythematosus
Discoid lupus rash, Malar rash, Lupus nephritis, Arthritis, Cheilitis, Serositis ORPHA:536
Glycogen Storage Disease Ic
Inflammation of the large intestine, Gout, Stomatitis, Chronic pancreatitis OMIM:232240
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Iridocyclitis, Keratoconjunctivi... ORPHA:227990
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Arthritis, Joint hypermobility ORPHA:93111
Aicardi-Goutières Syndrome
Chilblains, Multiple joint contractures, Myositis, Arthritis, Panniculitis ORPHA:51
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hyper... ORPHA:284984
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Parotitis, Colitis, Arthritis, Conjunctivitis, Epididymitis OMIM:620376
Gaucher Disease
Osteopenia, Joint dislocation, Hepatitis, Osteolysis, Pathologic fracture, Osteomyelitis, Joint s... ORPHA:355
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Iridocycl... ORPHA:227982
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Skin rash, Osteoarthritis ORPHA:2298
Osteogenesis Imperfecta
Osteopenia, Fractures of the long bones, Genu valgum, Reduced bone mineral density, Increased sus... ORPHA:666
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Joint hypermobility, Seborrheic dermatitis, Arthritis, Patellar... ORPHA:567
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Iridocyclitis, Arthritis, Bronchiectasis, Uveitis OMIM:181000
Hunter-Macdonald Syndrome
Joint contracture of the hand, Delayed cranial suture closure, Premature osteoarthritis, Cubitus ... OMIM:611962
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Autosomal Dominant Dopa-Responsive Dystonia
Rheumatoid arthritis, Progressive flexion contractures ORPHA:98808
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger ORPHA:217085
Marburg Hemorrhagic Fever
Uveitis, Skin rash, Orchitis, Pancreatitis, Arthritis, Maculopapular exanthema, Pericarditis ORPHA:99826
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger ORPHA:217093
Dermatomyositis
Chondrocalcinosis, Heliotrope rash, Skin rash, Myositis, Arthritis, Myocarditis, Pericarditis ORPHA:221
Fabry Disease
Reduced bone mineral density, Arthritis ORPHA:324
Wilson Disease
Chondrocalcinosis, Osteomalacia, Joint hypermobility, Atypical or prolonged hepatitis, Osteoarthr... OMIM:277900
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Pancreatitis, Myocarditis, Septic arthritis, Acute colitis ORPHA:544482
Stickler Syndrome
Joint dislocation, Genu valgum, Joint hypermobility, Osteoarthritis, Chronic otitis media, Reduce... ORPHA:828
Classical Ehlers-Danlos Syndrome
Osteopenia, Shoulder dislocation, Joint swelling, Generalized joint hypermobility, Phalangeal dis... ORPHA:287
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Fasciitis, Keratoconjunctivitis sicca, Arthritis, Flexion contractu... ORPHA:99921
Hutchinson-Gilford Progeria Syndrome
Limitation of joint mobility, Limited wrist movement, Limited hip movement, Joint stiffness, Limi... ORPHA:740
Gaisböck Syndrome
Gout, Cholecystitis ORPHA:90041
Loeys-Dietz Syndrome 3
Osteopenia, Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Join... OMIM:613795
Marfan Syndrome
Genu recurvatum, Premature osteoarthritis, Limited elbow extension, Joint hypermobility, Camptoda... OMIM:154700
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the ankle, Painless fractures due to injury, Fasciitis, Osteomyelitis, Abnormality... ORPHA:642
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Psoriasiform dermatitis, Hashimoto thyroiditis, Membranous nephropathy, Dee... ORPHA:49041
Tetrasomy 9P
Joint dislocation, Glue ear, Myositis, Arthritis, Pericarditis ORPHA:3310
Hypermobile Ehlers-Danlos Syndrome
Limitation of joint mobility, Elbow dislocation, Joint dislocation, Osteolysis, Abnormality of th... ORPHA:285
Gitelman Syndrome
Tubulointerstitial nephritis, Chondrocalcinosis, Gout, Hashimoto thyroiditis ORPHA:358
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints, Flexion contr... ORPHA:580
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis, Keratoconjunctivitis sicca, Arthritis ORPHA:2363
Acromegaly
Acne, Joint swelling, Osteoarthritis ORPHA:963
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920
Aspartylglucosaminuria
Joint stiffness, Chronic otitis media, Arthritis ORPHA:93
Somatomammotropinoma
Joint swelling, Osteoarthritis ORPHA:314769
Choreoacanthocytosis
Arthritis ORPHA:2388
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Camptodactyly of finger, Recurrent otitis media, Joint hypermobility, Synovitis, Wide... ORPHA:3455
Marfan Syndrome
Osteopenia, Limited elbow movement, Joint hypermobility, Arthralgia/arthritis, Osteoporosis, Redu... ORPHA:558
Noonan Syndrome 1
Synovitis, Cubitus valgus OMIM:163950
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Periodontitis, Joint dislocation, Joint hypermobility, Osteoarthritis... ORPHA:286
Welander Distal Myopathy
OMIM:604454
Distal Myopathy, Welander Type
ORPHA:603
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
OMIM:619133

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 Tia1

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 Tia1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The RNA binding proteins TIA1 and TIAL1 promote Mcl1 mRNA translation to protect germinal center responses from apoptosis. Cellular & molecular immunology (July 2023) Tia1tm1c(KOMP)Wtsi 37474714
The splicing regulators TIA1 and TIAL1 are required for the expression of the DNA damage repair machinery during B cell lymphopoiesis. Cell reports (December 2022) Tia1tm1a(EUCOMM)Wtsi Tia1tm1c(EUCOMM)Wtsi Tia1tm1c(KOMP)Wtsi PMC9794549
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Tia1tm1b(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)