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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
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Glycoprotein Storage Disease
Gout OMIM:232900
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Talo-Patello-Scaphoid Osteolysis
Osteolysis of patellae, Osteolysis of scaphoids, Osteolysis of talus, Enlarged joints, Synovitis ORPHA:50809
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Synovitis, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids OMIM:609655
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Hyperextensibility of the finger joints... OMIM:105835
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility ORPHA:97332
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Osteochondrosis Of The Tarsal Bone
Chondritis, Osteochondritis dissecans, Abnormal tarsal ossification, Arthritis, Tarsal sclerosis,... ORPHA:563991
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Generalized morning stiffness, Arthropathy, Arthritis, Congenital finger flexion contractures, Wr... OMIM:208250
Congenital Atransferrinemia
Arthritis ORPHA:1195
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Knee osteoarthritis, Joint subluxation, Stiff shoulders, Abnormality... ORPHA:2619
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint swelling, Osteoarthritis, Arthritis, Joint dislocation, Limitation of jo... ORPHA:1416
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Mueller-Weiss Syndrome
Knee osteoarthritis, Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Arth... ORPHA:566943
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Chondritis, Osteochondrosis, Progressive joint destructi... ORPHA:564003
Eng-Strom Syndrome
Camptodactyly of finger, Arthritis ORPHA:1937
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Osteoarthritis, Joint laxity, Joint dislocation OMIM:130020
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Joint stiffness, Heberden's node OMIM:604864
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Bullous Impetigo
Septic arthritis, Recurrent bacterial skin infections, Pustule ORPHA:36237
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Arthritis, Limitation of joint mobility, Flexio... ORPHA:231
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Mucopolysaccharidosis, Type Ix
Chondrocalcinosis, Popliteal synovial cyst, Finger joint hypermobility, Hyperextensibility at wri... OMIM:601492
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Reduced bone mineral density, Polyarticular arthritis, Joint swelling, Progressive joint destruct... ORPHA:85435
Cranio-Osteoarthropathy
Joint stiffness, Joint swelling, Abnormality of the knee, Osteoarthritis, Arthritis, Eczema ORPHA:1525
Beukes Hip Dysplasia
Shallow acetabular fossae, Osteoarthritis OMIM:142669
Familial Avascular Necrosis Of Femoral Head
Limited hip movement, Hip osteoarthritis ORPHA:86820
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Osteoarthritis, Delayed epiphyseal ossifi... OMIM:600969
Vertical Talus, Congenital
Arthritis OMIM:192950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Knee flexion contracture, Sterile arthritis, Colitis, Arthritis, Acne, Elbow flexion... OMIM:604416
Multiple Epiphyseal Dysplasia Type 1
Knee joint hypermobility, Finger joint hypermobility, Joint stiffness, Genu varum, Osteoarthritis... ORPHA:93308
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Osteoarthritis, Abnormality of bone mineral density, Abnormal ossific... 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
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, Purulent rhinitis, Pneumonia, Conjunctivitis, Otitis media OMIM:601457
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Spondyloarthropathy, Susceptibility To, 1
Oligoarthritis, Inflammation of the large intestine, Enthesitis, Psoriasiform dermatitis, Anterio... OMIM:106300
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Joint subluxation, Osteopenia, Contracture of the proximal interphalangeal joint of the 3rd finge... OMIM:130060
Papa Syndrome
Increased inflammatory response, Pustule, Arthritis, Acne, Limitation of joint mobility, Crohn's ... ORPHA:69126
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures OMIM:616833
Pseudoachondroplasia
Limited elbow extension, Knee joint hypermobility, Distal joint laxity, Generalized joint laxity,... ORPHA:750
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Joint stiffness, Joint swelling, Enthesitis, Abnormal hip jo... ORPHA:85408
Melorheostosis
Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness, Arthritis ORPHA:2485
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Osteoarthritis, Limitation of joint mobility ORPHA:2762
Idiopathic Non-Lupus Full-House Nephropathy
Glomerulonephritis, Skin rash, Arthritis, Synovitis, Serositis ORPHA:567544
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pericarditis, Arthritis OMIM:609939
Dysplasia Epiphysealis Hemimelica
Joint stiffness, Genu varum, Osteoarthritis, Recurrent fractures, Tarsal synostosis, Genu valgum ORPHA:1822
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteochondritis dissecans, Hip osteoarthritis, Premature osteoarthritis OMIM:165800
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... OMIM:166600
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Immunodeficiency 61
Recurrent otitis media, Arthritis, Recurrent sinusitis OMIM:300310
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormal patella morphology, Genu varum, Abnormality of the knee, Abnormality of the epiphyses of... ORPHA:166002
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
Farber Lipogranulomatosis
Ulnar deviation of the wrist, Osteolysis involving bones of the feet, Joint swelling, Arthritis, ... OMIM:228000
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Epiphyseal Dysplasia, Multiple, 6
Osteoarthritis, Abnormality of the knee OMIM:614135
Epiphyseal Dysplasia, Multiple, 1
Generalized joint laxity, Joint stiffness, Delayed epiphyseal ossification, Hip osteoarthritis, L... OMIM:132400
Dysspondyloenchondromatosis
Generalized joint laxity, Osteoarthritis, Joint dislocation, Enlarged joints, Genu valgum ORPHA:85198
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Osteoarthritis, Joint dislocation, Arthritis, Osteomyelitis, Recurren... ORPHA:53
Sjogren Syndrome
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Rheumatoid arthritis OMIM:270150
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis OMIM:618618
Hemophilia B
Osteoarthritis, Joint hemorrhage OMIM:306900
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Epiphyseal Dysplasia, Multiple, 5
Delayed tarsal ossification, Delayed ossification of carpal bones, Genu valgum, Premature osteoar... OMIM:607078
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Arthritis, Erythema nodosum, Skin rash OMIM:611762
Systemic Lupus Erythematosus
Malar rash, Lupus nephritis, Arthritis, Nephritis, Pericarditis OMIM:152700
Lesch-Nyhan Syndrome
Gout ORPHA:510
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Protrusio acetabuli, Hip subluxation, Hip contracture, Limited hip movem... ORPHA:99642
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality ... ORPHA:229717
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Joint swelling, Joint stiffness, Genu varum, Arthropathy, Osteoporosis, ... OMIM:208230
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, Joint hypermobility, Abnormal... ORPHA:85410
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Joint stiffness ORPHA:1345
Multiple Epiphyseal Dysplasia Type 5
Joint stiffness, Genu varum, Abnormal hip joint morphology, Intervertebral disc degeneration, Del... ORPHA:93311
Hypochondroplasia
Joint hyperflexibility, Abnormality of the elbow, Osteoarthritis, Genu varum ORPHA:429
Autosomal Agammaglobulinemia
Chronic otitis media, Skin rash, Arthritis, Hepatitis, Sinusitis, Recurrent skin infections, Bron... ORPHA:33110
Familial Cold Autoinflammatory Syndrome 1
Uveitis, Conjunctivitis, Arthritis, Skin rash OMIM:120100
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Osteolysis, Inflammation of the large intestine, Skin rash, Abnormal... ORPHA:324964
Juvenile Idiopathic Arthritis
Abnormal joint morphology, Joint stiffness, Joint swelling, Skin rash, Uveitis, Joint dislocation... ORPHA:92
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteoarthritis, Septic arthritis, Osteomyelitis, Recurrent fractures, Painless fract... OMIM:608654
Sapho Syndrome
Craniofacial osteosclerosis, Osteolysis, Inflammation of the large intestine, Enthesitis, Skin ra... ORPHA:793
Pfapa Syndrome
Infectious encephalitis, Arthritis ORPHA:42642
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis OMIM:616414
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal joint morphology, Osteoporosis, Synostosis of carpal bones, Osteoarthritis, Limitation o... ORPHA:93351
Felty Syndrome
Chronic otitis media, Abnormal joint morphology, Osteolysis, Arthritis, Episcleritis, Sinusitis, ... ORPHA:47612
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Enthesitis-Related Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Enthesitis, Abnormal hip joint morphology, Abnormality of th... ORPHA:85438
Schnitzler Syndrome
Increased bone mineral density, Arthritis, Skin rash ORPHA:37748
Ulnar Hemimelia
Limited elbow extension, Abnormal calcification of the carpal bones, Abnormality of the humerouln... ORPHA:93320
Zika Virus Disease
Maculopapular exanthema, Skin rash, Arthritis, Wrist swelling, Infectious encephalitis, Ankle swe... ORPHA:448237
Neuronopathy, Distal Hereditary Motor, Type X
Joint hypermobility, Bronchiectasis, Osteoarthritis OMIM:620080
Eosinophilic Fasciitis
Myositis, Arthritis, Fasciitis ORPHA:3165
Yao Syndrome
Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, Pericarditis OMIM:617321
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Rat-Bite Fever
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Skin rash,... ORPHA:31205
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Blau Syndrome
Camptodactyly of finger, Joint swelling, Flexion contracture of toe, Uveitis, Arthritis, Iritis, ... OMIM:186580
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Genu valgum, Osteoarthritis, Capitate-hamate fusion OMIM:271650
Immunodeficiency 68
Septic arthritis, Recurrent skin infections, Lymphadenitis OMIM:612260
Multiple Epiphyseal Dysplasia, Beighton Type
Joint stiffness, Abnormal hip joint morphology, Osteoarthritis, Abnormal acetabulum morphology, D... ORPHA:166011
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Arthritis, Hepatitis, Sin... ORPHA:47
Wild Type Abeta2M Amyloidosis
Arthropathy, Arthritis ORPHA:85446
Graft Versus Host Disease
Gastrointestinal inflammation, Acute hepatitis, Inflammatory abnormality of the skin, Maculopapul... ORPHA:39812
Familial Cold Urticaria
Conjunctivitis, Arthritis ORPHA:47045
Cinca Syndrome
Patellar overgrowth, Uveitis, Arthritis, Skin rash OMIM:607115
Psoriasis-Related Juvenile Idiopathic Arthritis
Malar rash, Polyarticular arthritis, Oligoarthritis, Generalized morning stiffness, Abnormality o... ORPHA:85436
Periodic Fever, Familial, Autosomal Dominant
Oligoarthritis, Maculopapular exanthema, Polyarticular arthritis, Skin rash, Erysipelas, Myositis... OMIM:142680
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Arthropathy, Osteoporosis, Wormian bones, Osteopenia, Osteolytic defects o... OMIM:259100
Vexas Syndrome
Inflammatory abnormality of the skin, Nasal chondritis, Arthritis, Arteritis, Neutrophilic infilt... OMIM:301054
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, Arthritis OMIM:619423
Insulin Autoimmune Syndrome
Arthralgia/arthritis ORPHA:411593
Stickler Syndrome Type 1
Osteoarthritis, Joint hyperflexibility ORPHA:90653
Hemochromatosis, Type 3
Arthritis OMIM:604250
Psoriasis 14, Pustular
Cholangitis, Oligoarthritis, Polyarticular arthritis, Psoriasiform dermatitis, Pustule OMIM:614204
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Increased bone mineral density, Stiff knee, Increased inflammatory response,... ORPHA:93284
Dermatoosteolysis, Kirghizian Type
Osteolysis, Abnormality of the wrist, Osteoarthritis, Keratitis, Tarsal synostosis ORPHA:1657
Muckle-Wells Syndrome
Camptodactyly of finger, Skin rash, Recurrent aphthous stomatitis, Uveitis, Arthritis, Episclerit... ORPHA:575
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Knee osteoarthritis, Camptodactyly of toe, Camptodactyly of finger, ... ORPHA:2848
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Non Rare In Europe: Buschke-Ollendorff Syndrome
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Arthritis, Recurrent fractures, Fl... ORPHA:1306
Lyme Disease
Infectious encephalitis, Uveitis, Joint swelling, Arthritis ORPHA:91546
Alpha-Mannosidosis
Chronic otitis media, Synostosis of joints, Arthritis ORPHA:61
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Arthritis, Atrophic gastritis, Bronchiectasis, Psoriasiform dermatitis, Crohn's disease, Eczema OMIM:616100
Nail-Patella Syndrome
Patellar dislocation, Achilles tendon contracture, Patellar aplasia, Proximal finger joint hypere... ORPHA:2614
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteolysis, Sclerotic cranial sutures, Arthropathy, Osteoporosis, Osteolysis involving bones of t... ORPHA:371428
Anti-Glomerular Basement Membrane Disease
Arthritis ORPHA:375
Scedosporiosis
Endocarditis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pneumonia, Osteomyelitis, Perica... ORPHA:449280
Complement Factor I Deficiency
Glomerulonephritis, Pyelonephritis, Recurrent otitis media, Recurrent skin infections, Septic art... OMIM:610984
Melioidosis
Osteoarthritis, Parotitis, Hepatitis, Septic arthritis, Foot osteomyelitis, Cutaneous abscess, Pn... ORPHA:31202
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Membranous nephropathy, Arthritis, Recurrent sinusitis OMIM:615559
Adult-Onset Still Disease
Myocarditis, Joint swelling, Skin rash, Arthritis, Hepatitis, Pericarditis ORPHA:829
Majeed Syndrome
Increased bone mineral density, Inflammatory abnormality of the skin, Pustule, Acne, Increased su... ORPHA:77297
Alkaptonuria
Vertebral fusion, Arthropathy, Limited shoulder movement, Arthritis, Limitation of knee mobility,... OMIM:203500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Hip dislocation, Generalized joint laxity, Genu varum, Laryngotracheomalacia, Abnormally shaped c... ORPHA:93360
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Sinusitis, Recurrent otitis media, Infectious encephalitis, Septic arthrit... OMIM:307200
Roifman-Chitayat Syndrome
Arthritis, Pneumonia, Osteopenia OMIM:613328
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Arthritis OMIM:184100
Takayasu Arteritis
Inflammatory abnormality of the eye, Increased inflammatory response, Arthritis ORPHA:3287
Pseudoachondroplasia
Limited elbow extension, Ulnar deviation of the wrist, Genu varum, Limited shoulder movement, Gen... OMIM:177170
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Uveitis, Colitis, Arthritis, Recurrent otitis media, Recurre... OMIM:614700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Eczema, Recurrent pneumonia OMIM:617780
Behcet Syndrome
Erythema nodosum, Arthritis, Iritis, Iridocyclitis, Epididymitis OMIM:109650
Desbuquois Dysplasia 1
Genu varum, Flat acetabular roof, Osteoporosis, Advanced ossification of carpal bones, Advanced t... OMIM:251450
Microscopic Polyangiitis
Peritonitis, Skin rash, Pancreatitis, Uveitis, Arthritis, Episcleritis, Sinusitis, Increased infl... ORPHA:727
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Skin rash, Juvenile rheumatoid arthritis, Anterior uveitis, Pericarditis ORPHA:85414
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Chronic sinusitis, Atopic dermatitis, Skin rash, Arthritis, Recurrent otitis media, ... ORPHA:183675
Hypocomplementemic Urticarial Vasculitis
Skin rash, Uveitis, Joint dislocation, Arthritis, Episcleritis, Inflammatory abnormality of the e... ORPHA:36412
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Myositis, Arthritis, Sinusitis, Flexion contracture, Conjunctivitis, Panniculitis OMIM:617591
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility at elbow, Osteoarthritis, Joint dislocation, Hyperextensibility of the knee, J... OMIM:130000
Mixed Connective Tissue Disease
Myocarditis, Osteolysis, Joint swelling, Joint stiffness, Skin rash, Keratoconjunctivitis sicca, ... ORPHA:809
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Glomerulonephritis, Skin rash, Myositis, Arthritis, Hepatitis, Sinusiti... ORPHA:36234
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Aortic Aneurysm, Familial Thoracic 12
Arthritis OMIM:619825
Autoimmune Hepatitis
Acute hepatitis, Glomerulonephritis, Inflammation of the large intestine, Viral hepatitis, Fulmin... ORPHA:2137
Laron Syndrome
Abnormality of the elbow, Osteoarthritis ORPHA:633
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Arthritis ORPHA:411543
Reactive Arthritis
Inflammation of the large intestine, Joint stiffness, Joint swelling, Enthesitis, Recurrent aphth... ORPHA:29207
Ehlers-Danlos Syndrome, Classic-Like, 2
Hip dislocation, Generalized joint laxity, Osteoporosis, Osteoarthritis, Shoulder dislocation, Os... OMIM:618000
Stickler Syndrome, Type I
Joint stiffness, Arthropathy, Osteoarthritis, Arthritis, Joint hypermobility OMIM:108300
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Recurrent aphthous stomatitis, Limitation of joint mobility, Arthritis ORPHA:343
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Arthritis, Hepatitis, Eczema, Erythroderma OMIM:304790
Rheumatic Fever
Myocarditis, Endocarditis, Arthritis, Sinusitis, Pericarditis ORPHA:3099
Medullary cystic kidney disease 2
Gout, Tubulointerstitial nephritis OMIM:603860
Wilson Disease
Acute hepatitis, Joint swelling, Pathologic fracture, Arthritis, Hepatitis ORPHA:905
Moderate Hemophilia A
Joint swelling, Arthropathy, Joint hemorrhage, Hip contracture, Limitation of joint mobility, Syn... ORPHA:169805
Morgagni-Stewart-Morel Syndrome
Acne, Osteoporosis, Osteoarthritis ORPHA:77296
Hyperuricemia, Hprt-Related
Podagra OMIM:300323
Rheumatoid Arthritis
Polyarticular arthritis, Joint stiffness, Rheumatoid arthritis, Joint swelling OMIM:180300
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Rheumatoid arthritis ORPHA:399180
Severe Hemophilia A
Joint swelling, Progressive joint destruction, Joint hemorrhage, Limitation of joint mobility, Sy... ORPHA:169802
Reynolds Syndrome
Infectious encephalitis, Keratoconjunctivitis sicca, Arthritis, Skin rash ORPHA:779
Pachydermoperiostosis
Eczematoid dermatitis, Osteolysis, Joint swelling, Genu varum, Osteoporosis, Arthritis, Acne, Seb... ORPHA:2796
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis ORPHA:48104
Fusariosis
Peritonitis, Maculopapular exanthema, Myositis, Arthritis, Fasciitis, Sinusitis, Bronchiectasis, ... ORPHA:228119
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint stiffness, Joint swelling, Stiff interphalangeal joints, Arthropathy, Osteoporosis, Arthritis ORPHA:465508
Kid Syndrome
Acne inversa, Recurrent cutaneous abscess formation, Keratitis, Recurrent bacterial skin infectio... ORPHA:477
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, Erythroderma OMIM:619510
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Tubulointerstitial nephritis, Endocarditis, Skin rash, Myositis, Arthritis, Sinusiti... ORPHA:183
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Viral hepatitis, Arthritis ORPHA:91138
Relapsing Polychondritis
Myocarditis, Keratitis, Chondritis, Recurrent aphthous stomatitis, Scleritis, Uveitis, Arthritis,... ORPHA:728
Chikungunya
Osteolysis, Maculopapular exanthema, Joint swelling, Joint stiffness, Stiff interphalangeal joint... ORPHA:324625
Adiposis Dolorosa
Recurrent skin infections, Arthritis ORPHA:36397
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Osteoarthritis, Genu varum OMIM:602111
Alkaptonuria
Reduced bone mineral density, Joint stiffness, Joint swelling, Osteoarthritis, Joint dislocation,... ORPHA:56
Scleroderma
Myocarditis, Keratitis, Uveitis, Arthritis, Osteolytic defects of the phalanges of the hand, Epis... ORPHA:801
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Orchitis, Skin rash, Erysipelas, Uveitis, Myositis, Abnormal sacroiliac joint morpho... ORPHA:32960
Pediatric Systemic Lupus Erythematosus
Malar rash, Skin rash, Arthritis, Discoid lupus rash, Nephritis, Myositis ORPHA:93552
Whipple Disease
Myocarditis, Uveitis, Arthritis, Infectious encephalitis, Myositis, Pericarditis ORPHA:3452
Dowling-Degos Disease
Acne inversa, Arthritis ORPHA:79145
Otospondylomegaepiphyseal Dysplasia
Abnormal joint morphology, Osteoarthritis, Enlarged joints, Limitation of joint mobility, Abnorma... ORPHA:1427
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteoarthritis, Osteomalacia, Hypophosphatemic rickets, Genu valgum OMIM:307800
Hereditary Xanthinuria
Arthropathy, Gout, Rheumatoid arthritis ORPHA:3467
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Osteolysis, Arthritis ORPHA:220393
Farber Disease
Joint swelling, Abnormality of the knee, Osteoporosis, Abnormality of the elbow, Abnormality of t... ORPHA:333
Subcorneal Pustular Dermatosis
Pustule, Rheumatoid arthritis ORPHA:48377
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Flat acetabular roof, Abnormal enchondral ossification, Delayed epiphyseal ossificati... ORPHA:93314
Polymyositis
Chondrocalcinosis, Pericarditis, Arthritis ORPHA:732
Overlap Myositis
Subluxation of the small joints of the hand, Arthritis, Rheumatoid arthritis ORPHA:206572
Localized Scleroderma
Hashimoto thyroiditis, Uveitis, Sclerosis of finger phalanx, Arthritis, Esophagitis, Flexion cont... ORPHA:90289
Brucellosis
Myocarditis, Knee osteoarthritis, Pericarditis, Glomerulonephritis, Orchitis, Endocarditis, Arthr... ORPHA:1304
Multiple Epiphyseal Dysplasia Type 4
Joint stiffness, Metatarsal synostosis, Premature osteoarthritis, Dislocation of the femoral head... ORPHA:93307
Glycogen Storage Disease Vii
Gout OMIM:232800
Spondyloenchondrodysplasia
Skin rash, Juvenile rheumatoid arthritis, Arthritis, Hepatitis, Pneumonia ORPHA:1855
Sweet Syndrome
Acne inversa, Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, ... ORPHA:3243
X-Linked Hypophosphatemia
Rickets, Craniosynostosis, Reduced bone mineral density, Generalized osteosclerosis, Genu varum, ... ORPHA:89936
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis ORPHA:92050
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Recurrent otitis media, Recurrent pneumonia, Infectious encephalitis, Sept... OMIM:300755
Familial Mediterranean Fever
Peritonitis, Orchitis, Skin rash, Erysipelas, Pancreatitis, Osteoarthritis, Arthritis, Pericarditis ORPHA:342
Shigellosis
Peritonitis, Myocarditis, Acute colitis, Uveitis, Ulcerative colitis, Arthritis, Pneumonia, Conju... ORPHA:810
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Skin rash, Colitis, Arthritis, Esophagitis, Chronic gastriti... OMIM:301074
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Pathologic fracture, Osteoarthritis, Osteopenia ORPHA:77259
Systemic Sclerosis
Myocarditis, Glomerulonephritis, Joint swelling, Arthritis, Osteolytic defects of the phalanges o... ORPHA:90291
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Recurrent pneumonia, Flexion contracture, Enlarged joints, Premature osteoarthritis OMIM:215150
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Idiopathic Camptocormia
Abnormal inflammatory response, Myelitis, Myositis, Osteoarthritis ORPHA:1320
Familial Mediterranean Fever
Peritonitis, Orchitis, Erysipelas, Arthritis, Crohn's disease, Pericarditis OMIM:249100
Selective Igm Deficiency
Keratitis, Chronic sinusitis, Atopic dermatitis, Hashimoto thyroiditis, Non-infectious meningitis... ORPHA:331235
Hyper-Igd Syndrome
Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, Serositis OMIM:260920
Simple Cryoglobulinemia
Arthritis, Membranoproliferative glomerulonephritis, Nephritis, Pericarditis, Viral hepatitis ORPHA:91139
Giant Cell Arteritis
Pericarditis, Joint stiffness, Arthritis ORPHA:397
Listeriosis
Peritonitis, Myocarditis, Stiff neck, Endocarditis, Pyelonephritis, Pustule, Infectious encephali... ORPHA:533
Coccidioidomycosis
Peritonitis, Morbilliform rash, Osteolysis, Skin rash, Pancreatitis, Arthritis, Pneumonia, Osteom... ORPHA:228123
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Delayed epiphyseal ossification, Joint laxity, Premature osteoarthritis, Generalized ... ORPHA:93352
Loeys-Dietz Syndrome 6
Knee osteoarthritis, Hip osteoarthritis, Intervertebral disc degeneration OMIM:619656
Catastrophic Antiphospholipid Syndrome
Myocarditis, Arthritis ORPHA:464343
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Arthritis, Chronic oral candidiasis, Psoriasiform dermatitis, Recurrent aspiration pn... ORPHA:221139
Behçet Disease
Optic neuritis, Orchitis, Endocarditis, Recurrent aphthous stomatitis, Pancreatitis, Keratoconjun... ORPHA:117
Juvenile Dermatomyositis
Skin rash, Arthritis, Limitation of joint mobility, Myositis, Pericarditis ORPHA:93672
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Trichorhinophalangeal Syndrome, Type I
Osteoarthritis, Osteopenia, Ivory epiphyses of the distal phalanges of the hand OMIM:190350
Riddle Syndrome
Chronic sinusitis, Arthritis, Recurrent pneumonia, Pneumonia, Otitis media, Recurrent sinusitis ORPHA:420741
Immunoglobulin A Vasculitis
Orchitis, Skin rash, Arthritis, Episcleritis, Infectious encephalitis, Pustule ORPHA:761
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hashimoto thyroiditis, Skin rash, Arthritis, Recurrent otitis media, Panniculitis, Eczema, Erythe... OMIM:615688
Immunodeficiency 82 With Systemic Inflammation
Joint swelling, Skin rash, Colitis, Arthritis, Osteomalacia, Gastritis, Hepatitis, Recurrent otit... OMIM:619381
Wiskott-Aldrich Syndrome
Chronic otitis media, Keratitis, Inflammation of the large intestine, Blepharitis, Arthritis, Sin... ORPHA:906
Gamma-Heavy Chain Disease
Osteolysis, Rheumatoid arthritis, Skin rash ORPHA:100026
Kawasaki Disease
Myocarditis, Skin rash, Cheilitis, Arthritis, Hepatitis, Cholecystitis, Conjunctivitis, Pericarditis ORPHA:2331
Postinfectious Vasculitis
Gastrointestinal inflammation, Glomerulonephritis, Inflammatory abnormality of the skin, Orchitis... ORPHA:48435
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Inflammatory abnormality of the skin, Joint swelling, Chronic hepatitis, Pancreatiti... ORPHA:3260
Marshall Syndrome
Genu valgum, Osteoarthritis ORPHA:560
Primary Sjögren Syndrome
Glomerulonephritis, Optic neuritis, Chronic active hepatitis, Chronic hepatitis, Tubulointerstiti... ORPHA:289390
Hereditary Spherocytosis
Maculopapular exanthema, Gout ORPHA:822
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Osteoarthritis, Congenital finger flexion contractures, Joint hypermo... OMIM:615582
Dysbetalipoproteinemia
Acute pancreatitis, Gout ORPHA:412
Autoimmune Lymphoproliferative Syndrome
Glomerulonephritis, Recurrent aphthous stomatitis, Uveitis, Colitis, Arthritis, Gastritis, Hepati... ORPHA:3261
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Skin rash, Arthritis, Chilblains, Atrophic gastritis, Hepatitis, Pneumonia OMIM:615846
Glycogen Storage Disease Ib
Pancreatitis, Osteoporosis, Inflammation of the large intestine, Gout OMIM:232220
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Arthritis, Osteolytic defects of the phalanges of the hand OMIM:161700
Glycogen Storage Disease Ia
Pancreatitis, Osteoporosis, Gout OMIM:232200
Blau Syndrome
Camptodactyly of finger, Keratitis, Polyarticular arthritis, Joint swelling, Skin rash, Posterior... ORPHA:90340
Multiple Osteochondromas
Femoroacetabular impingement, Abnormality of the knee, Arthritis, Limitation of knee mobility, Li... ORPHA:321
Myasthenia Gravis
Hepatitis, Myositis, Rheumatoid arthritis, Hashimoto thyroiditis ORPHA:589
Sitosterolemia 1
Arthritis OMIM:210250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Gout, Tubulointerstitial nephritis OMIM:174000
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Hip dislocation, Joint stiffness, Joint swelling, Cheilitis, Osteomalacia, ... ORPHA:534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Gout, Pancreatitis, Osteoporosis, Ulcerative colitis, Osteop... ORPHA:79259
Lymphoid Interstitial Pneumonia
Skin rash, Keratoconjunctivitis sicca, Bronchiectasis, Rheumatoid arthritis, Eczema ORPHA:79128
Spondyloenchondrodysplasia With Immune Dysregulation
Joint swelling, Juvenile rheumatoid arthritis, Recurrent otitis media, Pneumonia, Sclerosis of sk... OMIM:607944
Plague
Inflammation of the large intestine, Endocarditis, Skin rash, Abnormality of the elbow, Lymphaden... ORPHA:707
Gaucher Disease
Increased bone mineral density, Osteolysis, Joint stiffness, Osteoarthritis, Joint dislocation, O... ORPHA:355
Wilson Disease
Chondrocalcinosis, Atypical or prolonged hepatitis, Osteoporosis, Osteoarthritis, Osteomalacia, J... OMIM:277900
Aneurysm-Osteoarthritis Syndrome
Craniosynostosis, Knee osteoarthritis, Camptodactyly of finger, Osteochondritis dissecans, Osteop... ORPHA:284984
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Hashimoto thyroiditis, Keratoconjunctivitis sicca, Osteopenia, Hepa... ORPHA:227990
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis ORPHA:99867
Aicardi-Goutières Syndrome
Arthritis, Chilblains, Multiple joint contractures, Myositis, Panniculitis ORPHA:51
Autoimmune Polyendocrinopathy Type 3
Tubulointerstitial nephritis, Hashimoto thyroiditis, Keratoconjunctivitis sicca, Osteopenia, Hepa... ORPHA:227982
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hyperflexibility, Arthritis ORPHA:93111
Glycogen Storage Disease Ic
Chronic pancreatitis, Gout, Inflammation of the large intestine, Stomatitis OMIM:232240
Osteogenesis Imperfecta
Flexion contracture, Osteoporosis, Dislocated radial head, Osteoarthritis, Osteopenia, Wormian bo... ORPHA:666
22Q11.2 Deletion Syndrome
Chronic otitis media, Multiple suture craniosynostosis, Arthritis, Patellar dislocation, Acne, Se... ORPHA:567
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Osteoarthritis, Skin rash ORPHA:2298
Hunter-Macdonald Syndrome
Camptodactyly, Delayed cranial suture closure, Cubitus valgus, Joint contracture of the hand, Pre... OMIM:611962
Stickler Syndrome
Chronic otitis media, Reduced bone mineral density, Hip dislocation, Uveitis, Osteoarthritis, Joi... ORPHA:828
Dermatomyositis
Myocarditis, Chondrocalcinosis, Pericarditis, Arthritis ORPHA:221
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Uveitis, Arthritis, Bronchiectasis, Iridocyclitis OMIM:181000
Marburg Hemorrhagic Fever
Orchitis, Maculopapular exanthema, Skin rash, Pancreatitis, Uveitis, Arthritis, Pericarditis ORPHA:99826
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Rheumatoid arthritis ORPHA:98808
Fabry Disease
Reduced bone mineral density, Arthritis ORPHA:324
Mucopolysaccharidosis Type 2, Severe Form
Limitation of joint mobility, Flexion contracture, Camptodactyly of finger, Arthritis ORPHA:217085
Hypermobile Ehlers-Danlos Syndrome
Osteolysis, Hip dislocation, Keratoconjunctivitis sicca, Abnormality of the wrist, Osteoarthritis... ORPHA:285
Mucopolysaccharidosis Type 2, Attenuated Form
Limitation of joint mobility, Flexion contracture, Camptodactyly of finger, Arthritis ORPHA:217093
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Acute colitis, Pancreatitis, Septic arthritis, Pneumonia ORPHA:544482
Classical Ehlers-Danlos Syndrome
Hip dislocation, Generalized joint laxity, Joint swelling, Dislocated radial head, Osteoarthritis... ORPHA:287
Hutchinson-Gilford Progeria Syndrome
Reduced bone mineral density, Hip dislocation, Osteolytic defects of the distal phalanges of the ... ORPHA:740
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of lower limb joint, Neuropathic arthropathy, Septic arthritis, Recurrent aspiration ... ORPHA:642
Marfan Syndrome
Limited elbow extension, Camptodactyly, Genu recurvatum, Protrusio acetabuli, Joint hypermobility... OMIM:154700
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Hashimoto thyroiditis, Membranous nephropathy, ... ORPHA:49041
Gaisböck Syndrome
Cholecystitis, Gout ORPHA:90041
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Keratoconjunctivitis sicca, Arthritis, Bronchiectasis, Flexion cont... ORPHA:99921
Gitelman Syndrome
Chondrocalcinosis, Gout, Tubulointerstitial nephritis, Hashimoto thyroiditis ORPHA:358
Loeys-Dietz Syndrome 3
Craniosynostosis, Knee osteoarthritis, Camptodactyly, Osteochondritis dissecans, Osteoarthritis, ... OMIM:613795
Mucopolysaccharidosis Type 2
Abnormal epiphyseal ossification, Flexion contracture of digit, Limitation of joint mobility, Hip... ORPHA:580
Tetrasomy 9P
Myositis, Pericarditis, Joint dislocation, Arthritis ORPHA:3310
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis, Keratoconjunctivitis sicca, Arthritis ORPHA:2363
Acromegaly
Acne, Osteoarthritis, Joint swelling ORPHA:963
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920
Somatomammotropinoma
Osteoarthritis, Joint swelling ORPHA:314769
Aspartylglucosaminuria
Chronic otitis media, Joint stiffness, Arthritis ORPHA:93
Marfan Syndrome
Arthralgia/arthritis, Osteoporosis, Osteopenia, Protrusio acetabuli, Limited elbow movement, Join... ORPHA:558
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Osteopenia, Recurrent otitis media, Recurrent skin infections, Widely pa... ORPHA:3455
Choreoacanthocytosis
Arthritis ORPHA:2388
Noonan Syndrome 1
Synovitis, Cubitus valgus OMIM:163950
Vascular Ehlers-Danlos Syndrome
Osteolysis, Congenital hip dislocation, Osteoarthritis, Joint dislocation, Periodontitis, Joint h... 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)