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Gene: Mmp3 MGI:97010

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

matrix metallopeptidase 3

Synonyms:

SLN1, SLN-1, Str1, STR-1, progelatinase, stromelysin-1, Stmy1, stromelysin 1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Mmp3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Mmp3 (0 diseases)
Human diseases predicted to be associated with Mmp3 (485 diseases)

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

The table below shows human diseases predicted to be associated to Mmp3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti...	OMIM:607850
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Chondrocalcinosis 2	Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis	OMIM:118600
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Glycoprotein Storage Disease	Gout	OMIM:232900
Kienbock Disease	Abnormality of the wrist, Osteochondritis Dissecans, Osteoarthritis, Limitation of joint mobility	ORPHA:97332
Developmental Dysplasia Of The Hip 2	Arthritis, Hip osteoarthritis	OMIM:615612
Angel-Shaped Phalangoepiphyseal Dysplasia	Premature osteoarthritis, Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed os...	OMIM:105835
Arthritis, Sacroiliac	Sacroiliac arthritis	OMIM:108100
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor...	OMIM:308220
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Talo-Patello-Scaphoid Osteolysis	Synovitis, Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Osteolysis of patellae	ORPHA:50809
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	OMIM:609655
Agammaglobulinemia 2, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re...	OMIM:613500
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Osteoarthritis, Hip osteoarthritis	OMIM:271600
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Brachydactylous Dwarfism, Mseleni Type	Hip osteoarthritis, Knee osteoarthritis, Osteopenia, Abnormality of the wrist, Joint subluxation,...	ORPHA:2619
Peripheral Dysostosis	Joint stiffness, Osteoarthritis	ORPHA:1795
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Chondrocalcinosis Due To Apatite Crystal Deposition	Osteoarthritis of the small joints of the hand, Costal cartilage calcification, Arthropathy, Chon...	OMIM:118610
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in...	OMIM:613495
Osteoarthritis With Mild Chondrodysplasia	Joint stiffness, Knee osteoarthritis, Heberden's node, Hip osteoarthritis	OMIM:604864
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Jo...	ORPHA:1416
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Familial Avascular Necrosis Of Femoral Head	Limited hip movement, Hip osteoarthritis	ORPHA:86820
Ehlers-Danlos Syndrome, Hypermobility Type	Joint hypermobility, Osteoarthritis, Joint dislocation, Joint laxity	OMIM:130020
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Beukes Hip Dysplasia	Shallow acetabular fossae, Osteoarthritis	OMIM:142669
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Osteochondrosis Of The Tarsal Bone	Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Osteocho...	ORPHA:563991
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ...	OMIM:605258
Immunodeficiency 35	Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre...	OMIM:611521
Immunodeficiency 34	Recurrent mycobacterial infections, Severe recurrent varicella	OMIM:300645
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis	ORPHA:93283
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c...	OMIM:613494
Mannose-Binding Lectin Deficiency	Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr...	OMIM:614372
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Epiphyseal Dysplasia, Multiple, 3	Abnormal hip joint morphology, Limited knee extension, Delayed epiphyseal ossification, Limited e...	OMIM:600969
Immunodeficiency 18	Recurrent respiratory infections, Recurrent otitis media, Defective T cell proliferation, Recurre...	OMIM:615615
Hemophilia A	Joint hemorrhage, Osteoarthritis	OMIM:306700
Hip Dysplasia, Beukes Type	Abnormality of bone mineral density, Abnormal bone ossification, Osteoarthritis, Abnormal ossific...	ORPHA:2114
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial hypertrophy, Constrictive pericarditis, Congenital finger flexion contractures, Generali...	OMIM:208250
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,...	OMIM:613501
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Epiphyseal Dysplasia, Multiple, 2	Flattened knee epiphyses, Knee osteoarthritis, Genu varum	OMIM:600204
Multiple Epiphyseal Dysplasia Type 1	Abnormal acetabulum morphology, Genu varum, Delayed epiphyseal ossification, Genu valgum, Finger ...	ORPHA:93308
Cranio-Osteoarthropathy	Eczema, Abnormality of the knee, Arthritis, Joint stiffness, Osteoarthritis, Joint swelling	ORPHA:1525
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis	OMIM:616833
Candidiasis, Familial, 1	Chronic mucocutaneous candidiasis, Cutaneous anergy, Recurrent viral infections	OMIM:114580
Immunodeficiency 24	Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ...	OMIM:615897
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections, Decreased circulating IgA level, Impaired memory B cell generatio...	OMIM:606843
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,...	OMIM:608106
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Immunodeficiency 61	Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory...	OMIM:300310
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Osteochondritis Dissecans, Osteoarthritis, Hip osteoarthritis	OMIM:165800
Immunodeficiency, Common Variable, 3	Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ...	OMIM:613493
Mueller-Weiss Syndrome	Sclerosis of foot bone, Chondritis, Limitation of movement at ankles, Knee osteoarthritis, Arthri...	ORPHA:566943
Progressive Osseous Heteroplasia	Osteoarthritis, Ectopic ossification in muscle tissue, Limitation of joint mobility	ORPHA:2762
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger	ORPHA:1937
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hyperflexibility	ORPHA:63442
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Agammaglobulinemia 6, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,...	OMIM:612692
Epiphyseal Dysplasia, Multiple, 6	Osteoarthritis, Abnormality of the knee	OMIM:614135
Multicentric Reticulohistiocytosis	Arthritis	ORPHA:139436
Hemophilia B	Joint hemorrhage, Osteoarthritis	OMIM:306900
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Agammaglobulinemia 4, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent pneumonia, ...	OMIM:613502
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Immunodeficiency 12	Recurrent bacterial infections, Recurrent viral infections	OMIM:615468
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Genu varum, Genu valgum, Joint stiffness, Recurrent fractures, Osteoarthritis	ORPHA:1822
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Chondritis, Osteochondrosis, Arthritis, Joint stiffness, Progressive join...	ORPHA:564003
Bullous Impetigo	Recurrent bacterial skin infections, Pustule, Septic arthritis	ORPHA:36237
Spondyloepiphyseal Dysplasia, Nishimura Type	Osteoarthritis, Delayed epiphyseal ossification	OMIM:618618
Hemophilia A With Vascular Abnormality	Joint hemorrhage, Osteoarthritis	OMIM:306800
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Congenital bilateral hip dislocation, Increased susceptibility to fractures, Osteopenia, Joint su...	OMIM:130060
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Premature osteoarthritis	OMIM:184840
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media	OMIM:616022
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi...	OMIM:166600
Vertical Talus, Congenital	Arthritis	OMIM:192950
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Joint stiffness, Osteoarthritis	ORPHA:1345
Dracunculiasis	Recurrent cutaneous abscess formation, Arthritis, Skin rash, Flexion contracture, Limitation of j...	ORPHA:231
Epiphyseal Dysplasia, Multiple, 1	Hip osteoarthritis, Generalized joint laxity, Delayed epiphyseal ossification, Genu valgum, Limit...	OMIM:132400
Ficolin 3 Deficiency	Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat...	OMIM:613860
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Genu varum, Abnormality of the knee, Abnormality of the epiphyses of the elbow, Genu valgum, Abno...	ORPHA:166002
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Dysspondyloenchondromatosis	Generalized joint laxity, Joint dislocation, Genu valgum, Enlarged joints, Osteoarthritis	ORPHA:85198
Spondyloarthropathy, Susceptibility To, 1	Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,...	OMIM:106300
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis	ORPHA:166100
Epiphyseal Dysplasia, Multiple, 5	Premature osteoarthritis, Delayed tarsal ossification, Delayed ossification of carpal bones, Genu...	OMIM:607078
Widow'S Peak Syndrome	Arthralgia/arthritis, Recurrent patellar dislocation, Hip osteoarthritis	OMIM:314570
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Polyarticular arthritis, Synovitis, Symmetric polyarthritis, Reduced bone mineral density, Osteop...	ORPHA:85435
Pseudoachondroplasia	Limited hip extension, Genu varum, Increased laxity of ankles, Irregular acetabular roof, Osteoar...	ORPHA:750
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Limitation of joint mobility	ORPHA:2582
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand	ORPHA:85169
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections	OMIM:614868
Hypochondroplasia	Osteoarthritis, Joint hyperflexibility, Genu varum, Abnormality of the elbow	ORPHA:429
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Immunodeficiency 33	Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b...	OMIM:300636
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Immunodeficiency 51	Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr...	OMIM:613953
Progressive Pseudorheumatoid Dysplasia	Genu varum, Osteoporosis, Enlarged interphalangeal joints, Joint contracture of the hand, Camptod...	OMIM:208230
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip osteoarthritis, Hip contracture, Abnormality of the knee, Limited hip movement, Hip subluxati...	ORPHA:99642
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cystic acne, Sterile arthritis, Acne, Arthritis, Knee flexion contracture, Colitis, Elbow flexion...	OMIM:604416
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Cd8 Deficiency, Familial	Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections	OMIM:608957
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Synovial hypertrophy, Abnormal hip joint morphology, Synovitis, Ankle swelling, Hip osteoarthriti...	ORPHA:85408
Albers-Schönberg Osteopetrosis	Generalized osteosclerosis, Joint dislocation, Arthritis, Genu valgum, Osteomyelitis, Mandibular ...	ORPHA:53
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Arthritis, Otitis media, Purulent rhinitis, Conjunctivitis	OMIM:601457
Immunodeficiency, Common Variable, 2	Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr...	OMIM:240500
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal joint morphology, Osteoporosis, Synostosis of carpal bones, Genu valgum, Limitation of j...	ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limited elbow extension, Capitate-hamate fusion, Genu valgum	OMIM:271650
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Multiple Epiphyseal Dysplasia Type 5	Abnormal acetabulum morphology, Genu varum, Abnormal hip joint morphology, Delayed proximal femor...	ORPHA:93311
Bare Lymphocyte Syndrome, Type Ii	Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ...	OMIM:209920
Immune Deficiency Disease	Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM	OMIM:242850
Melorheostosis	Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness	ORPHA:2485
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Reduced delayed hypersensitivity	OMIM:607624
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Immunodeficiency, Common Variable, 1	Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr...	OMIM:607594
Stickler Syndrome Type 1	Osteoarthritis, Joint hyperflexibility	ORPHA:90653
Agammaglobulinemia 1, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Decreased circulating antibody level, Recurre...	OMIM:601495
Ehlers-Danlos Syndrome, Classic-Like, 2	Knee dislocation, Osteoporosis, Shoulder dislocation, Hip dislocation, Osteoarthritis	OMIM:618000
Hemochromatosis, Type 4	Osteoarthritis	OMIM:606069
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe...	OMIM:608184
Idiopathic Non-Lupus Full-House Nephropathy	Synovitis, Arthritis, Serositis, Skin rash, Glomerulonephritis	ORPHA:567544
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Keratitis, Abnormality of the wrist, Osteoarthritis, Osteolysis	ORPHA:1657
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Limitation ...	ORPHA:69126
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal acetabulum morphology, Abnormal hip joint morphology, Genu valgum, Limitation of joint m...	ORPHA:166011
Ulnar Hemimelia	Limited elbow flexion, Abnormal calcification of the carpal bones, Abnormality of the humeroulnar...	ORPHA:93320
Whim Syndrome 1	Recurrent bacterial infections, Decreased circulating IgG level, Decreased circulating antibody l...	OMIM:193670
Lesch-Nyhan Syndrome	Gout	ORPHA:510
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my...	ORPHA:319552
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up...	OMIM:300853
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections	OMIM:146830
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Pericarditis, Arthritis	OMIM:609939
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev...	ORPHA:275
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Arthritis, Joint swelling, Ulnar deviation of the wrist, ...	OMIM:228000
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Uveitis, Rheumatoid arthritis, Abnormal...	ORPHA:85410
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Reticular Dysgenesis	Sepsis, Lack of T cell function, Impaired T cell function	OMIM:267500
Laron Syndrome	Osteoarthritis, Abnormality of the elbow	ORPHA:633
Caspase 8 Deficiency	Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ...	OMIM:607271
Myasthenic Syndrome, Congenital, 6, Presynaptic	Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p...	OMIM:254210
Melioidosis	Pneumonia, Prostatitis, Hepatitis, Septic arthritis, Parotitis, Acute infectious pneumonia, Osteo...	ORPHA:31202
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Immunodeficiency 67	Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf...	OMIM:607676
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren...	OMIM:243700
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Decreased circulating antibody level	OMIM:616873
Sjogren Syndrome	Keratoconjunctivitis sicca, Rheumatoid arthritis, Tubulointerstitial nephritis	OMIM:270150
Diverticulosis, Small-Intestinal	Rheumatoid arthritis, Thyroiditis, Ulcerative colitis	OMIM:223320
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Genu varum	ORPHA:93356
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Recurrent herpes, Dec...	ORPHA:276
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormal hip joint morphology, Hip osteoarthritis, Abnormality of the elbow, Oligoarthritis, Knee...	ORPHA:85438
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Defective T cell proliferation, Recurrent infections	OMIM:614493
Immunodeficiency, Common Variable, 6	Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-...	OMIM:613496
Ectodermal Dysplasia And Immunodeficiency 1	Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti...	OMIM:300291
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level	ORPHA:169079
Specific Granule Deficiency 1	Recurrent bacterial infections, Impaired neutrophil bactericidal activity	OMIM:245480
Familial Cold Autoinflammatory Syndrome 1	Conjunctivitis, Uveitis, Arthritis, Skin rash	OMIM:120100
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Osteoporosis, Acne	ORPHA:77296
Systemic Lupus Erythematosus	Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash	OMIM:152700
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Skin rash	OMIM:611762
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis...	ORPHA:93284
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Lack of T cell...	ORPHA:572
Pfapa Syndrome	Infectious encephalitis, Arthritis	ORPHA:42642
Pseudoachondroplasia	Limited hip extension, Genu varum, Irregular carpal bones, Delayed epiphyseal ossification, Genu ...	OMIM:177170
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p...	OMIM:605809
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Crescentic glomerulonephritis, Arthritis	OMIM:616414
Congenital Myasthenic Syndromes With Glycosylation Defect	Abnormal peripheral nervous system synaptic transmission, Facial palsy, Fatigable weakness, Favor...	ORPHA:353327
Desbuquois Dysplasia 1	Genu varum, Osteoporosis, Radioulnar dislocation, Joint dislocation, Advanced ossification of car...	OMIM:251450
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	Genu varum, Laryngotracheomalacia, Multiple joint dislocation, Generalized joint laxity, Abnormal...	ORPHA:93360
Spondyloepimetaphyseal Dysplasia, Missouri Type	Osteoarthritis, Genu varum, Limited elbow extension	OMIM:602111
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections	OMIM:613779
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Prolonged miniature endplate currents, Fatigable weakness	OMIM:601462
Thymic Aplasia	Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Chroni...	ORPHA:83471
Adult Idiopathic Neutropenia	Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur...	ORPHA:2688
Ehlers-Danlos Syndrome, Classic Type, 1	Hyperextensibility of the finger joints, Hyperextensibility of the knee, Joint dislocation, Joint...	OMIM:130000
Immunodeficiency 66	Sepsis, Defective T cell proliferation, Meningitis	OMIM:618847
Immunodeficiency With Hyper-Igm, Type 1	Recurrent bacterial infections, Sepsis, Decreased circulating IgA level, Impaired memory B cell g...	OMIM:308230
Pulmonary Nodular Lymphoid Hyperplasia, Familial	Rheumatoid arthritis	OMIM:178610
Isolated Agammaglobulinemia	Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Otitis media, Inflammator...	ORPHA:229717
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility	OMIM:313400
Eosinophilic Fasciitis	Fasciitis, Arthritis, Myositis	ORPHA:3165
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Septic arthritis	OMIM:612260
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections, Increased circulating antibody level	OMIM:202700
Schnitzler Syndrome	Arthritis, Increased bone mineral density, Skin rash	ORPHA:37748
Juvenile Idiopathic Arthritis	Psoriasiform dermatitis, Abnormal joint morphology, Abnormal sacroiliac joint morphology, Joint d...	ORPHA:92
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Inflammation of the large intestine, Abnormal sacroiliac joint morpholog...	ORPHA:324964
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Autosomal Agammaglobulinemia	Sinusitis, Bronchiectasis, Chronic otitis media, Hepatitis, Arthritis, Osteomyelitis, Recurrent s...	ORPHA:33110
Myasthenic Syndrome, Congenital, 5	Prolonged miniature endplate currents, Fatigable weakness	OMIM:603034
Otospondylomegaepiphyseal Dysplasia	Abnormal joint morphology, Abnormally ossified vertebrae, Limitation of joint mobility, Enlarged ...	ORPHA:1427
Van Den Bosch Syndrome	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Recurrent respirato...	ORPHA:3417
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Osteoarthritis, Hypophosphatemic rickets	OMIM:307800
Yao Syndrome	Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash	OMIM:617321
Hemochromatosis, Type 2A	Arthritis	OMIM:602390
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Decreased miniature endplate potentials, Facial palsy	OMIM:608930
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Dec...	ORPHA:331206
Wilson Disease	Chondrocalcinosis, Osteoporosis, Joint hypermobility, Osteomalacia, Osteoarthritis, Atypical or p...	OMIM:277900
Insulin Autoimmune Syndrome	Arthralgia/arthritis	ORPHA:411593
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Limitation of joint mobility	ORPHA:399180
Cinca Syndrome	Arthritis, Patellar overgrowth, Uveitis, Skin rash	OMIM:607115
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent opportunistic infections, Lack of T cell function, Recurrent otitis media, Increased ci...	ORPHA:277
Complement Factor I Deficiency	Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent skin infections, Glomerul...	OMIM:610984
Sapho Syndrome	Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Abnormal sacroi...	ORPHA:793
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis	OMIM:300455
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Premature osteoarthritis, Recurrent pneumonia, Flexion contracture, Enlarged joints	OMIM:215150
Hemochromatosis, Type 3	Arthritis	OMIM:604250
Alkaptonuria	Prostatitis, Joint dislocation, Arthritis, Reduced bone mineral density, Joint stiffness, Osteoar...	ORPHA:56
Felty Syndrome	Sinusitis, Pericarditis, Episcleritis, Synovitis, Abnormal joint morphology, Chronic otitis media...	ORPHA:47612
Blau Syndrome	Eczema, Pericarditis, Synovitis, Flexion contracture of toe, Arthritis, Nongranulomatous uveitis,...	OMIM:186580
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary...	ORPHA:183675
Wild Type Abeta2M Amyloidosis	Arthropathy, Arthritis	ORPHA:85446
Psoriasis 14, Pustular	Cholangitis, Polyarticular arthritis, Psoriasiform dermatitis, Pustule, Oligoarthritis	OMIM:614204
Vexas Syndrome	Inflammatory abnormality of the skin, Nasal chondritis, Chondritis of pinna, Neutrophilic infiltr...	OMIM:301054
Stickler Syndrome, Type I	Arthropathy, Osteoarthritis	OMIM:108300
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal acetabulum morphology, Limb joint contracture, Genu varum, Delayed epiphyseal ossificati...	ORPHA:93314
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi...	OMIM:147060
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Combined Oxidative Phosphorylation Deficiency 53	Arthritis, Septic arthritis, Osteomyelitis	OMIM:619423
Anti-Glomerular Basement Membrane Disease	Arthritis	ORPHA:375
Idiopathic Camptocormia	Abnormal inflammatory response, Osteoarthritis, Myositis, Myelitis	ORPHA:1320
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Arthritis, Cervical subluxation	OMIM:184100
Lyme Disease	Joint swelling, Uveitis, Infectious encephalitis, Arthritis	ORPHA:91546
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Eczema, Recurrent pneumonia, Septic arthritis	OMIM:617780
Periodic Fever, Familial, Autosomal Dominant	Polyarticular arthritis, Myositis, Oligoarthritis, Maculopapular exanthema, Skin rash, Erysipelas...	OMIM:142680
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo...	ORPHA:911
Hyperuricemia, Hprt-Related	Podagra	OMIM:300323
Multiple Epiphyseal Dysplasia Type 4	Elbow flexion contracture, Metatarsal synostosis, Genu valgum, Dislocation of the femoral head, C...	ORPHA:93307
Rat-Bite Fever	Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi...	ORPHA:31205
Psoriasis-Related Juvenile Idiopathic Arthritis	Polyarticular arthritis, Psoriasiform dermatitis, Abnormality of the knee, Oligoarthritis, Sacroi...	ORPHA:85436
Immunodeficiency 36	Recurrent bacterial infections, Recurrent respiratory infections, Decreased circulating antibody ...	OMIM:616005
Agammaglobulinemia, X-Linked	Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid...	OMIM:300755
Behcet Syndrome	Epididymitis, Arthritis, Iridocyclitis, Iritis, Erythema nodosum	OMIM:109650
Selective Igm Deficiency	Sepsis, Severe varicella zoster infection, Recurrent herpes, Recurrent infections, Nontuberculous...	ORPHA:331235
Gaucher Disease Type 1	Osteopenia, Pathologic fracture, Increased bone mineral density, Osteoarthritis, Osteolysis	ORPHA:77259
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Eczematoid dermatitis, Seborrheic dermatitis, Osteoporosis, Wormian bones, Arthritis, Osteopenia,...	OMIM:259100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout	OMIM:617056
X-Linked Agammaglobulinemia	Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Hepatitis, Arthritis, Ost...	ORPHA:47
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py...	OMIM:307200
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Glycogen Storage Disease Vii	Gout	OMIM:232800
Purine Nucleoside Phosphorylase Deficiency	Recurrent bacterial infections, Recurrent opportunistic infections, Impaired T cell function, Rec...	OMIM:613179
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Eczema, Inflammation of the large intestine, Chronic gastritis, Arthritis, Colitis	OMIM:608809
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease	OMIM:616100
Immunodeficiency 27B	Recurrent mycobacterial infections	OMIM:615978
Spondyloepimetaphyseal Dysplasia, Shohat Type	Genu varum, Generalized bone demineralization, Delayed epiphyseal ossification, Premature osteoar...	ORPHA:93352
Buschke-Ollendorff Syndrome	Generalized osteosclerosis, Craniosynostosis, Arthritis, Osteopoikilosis, Flexion contracture, Jo...	ORPHA:1306
Majeed Syndrome	Inflammatory abnormality of the skin, Abnormal inflammatory response, Pustule, Synovitis, Increas...	ORPHA:77297
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand	OMIM:601344
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Trichorhinophalangeal Syndrome, Type I	Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand, Osteopenia	OMIM:190350
Muckle-Wells Syndrome	Episcleritis, Arthritis, Uveitis, Skin rash, Camptodactyly of finger, Recurrent aphthous stomatit...	ORPHA:575
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Anterior uveitis, Juvenile rheumatoid arthritis, Skin rash, Joint swelling	ORPHA:85414
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Graft Versus Host Disease	Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut...	ORPHA:39812
Roifman-Chitayat Syndrome	Arthritis, Pneumonia, Osteopenia	OMIM:613328
Alpha-Mannosidosis	Chronic otitis media, Arthritis, Synostosis of joints	ORPHA:61
Familial Mediterranean Fever	Pericarditis, Peritonitis, Arthritis, Pancreatitis, Skin rash, Orchitis, Osteoarthritis, Erysipelas	ORPHA:342
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent bacterial infections, Severe varicella zoster infection, Decreased circulating IgA leve...	OMIM:606367
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout	OMIM:300661
Severe Hemophilia A	Limb joint contracture, Synovitis, Joint hemorrhage, Limitation of joint mobility, Progressive jo...	ORPHA:169802
Scedosporiosis	Sinusitis, Arthralgia/arthritis, Pericarditis, Pneumonia, Endocarditis, Septic arthritis, Osteomy...	ORPHA:449280
Adult-Onset Still Disease	Myocarditis, Pericarditis, Hepatitis, Arthritis, Skin rash, Joint swelling	ORPHA:829
Rheumatoid Arthritis	Joint stiffness, Polyarticular arthritis, Rheumatoid arthritis, Joint swelling	OMIM:180300
Immunodeficiency 81	Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections...	OMIM:619374
Alkaptonuria	Vertebral fusion, Intervertebral disc degeneration, Arthritis, Limited hip movement, Limited shou...	OMIM:203500
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Arthritis	ORPHA:411543
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu...	OMIM:233710
Zika Virus Disease	Wrist swelling, Infectious encephalitis, Ankle swelling, Arthritis, Skin rash, Maculopapular exan...	ORPHA:448237
Autoimmune Lymphoproliferative Syndrome, Type Iii	Membranous nephropathy, Recurrent otitis media, Recurrent sinusitis, Arthritis	OMIM:615559
Postsynaptic Congenital Myasthenic Syndromes	Decreased miniature endplate potentials, Facial palsy, Fatigable weakness of respiratory muscles,...	ORPHA:98913
Moderate Hemophilia A	Synovitis, Hip contracture, Joint hemorrhage, Limitation of joint mobility, Arthropathy, Joint sw...	ORPHA:169805
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of t...	ORPHA:371428
Pyoderma Gangrenosum	Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis	ORPHA:48104
Takayasu Arteritis	Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis	ORPHA:3287
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ...	ORPHA:169090
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy	OMIM:183350
Brucellosis	Myocarditis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Hip osteoarthritis, ...	ORPHA:1304
Proteasome-Associated Autoinflammatory Syndrome 3	Sinusitis, Myositis, Panniculitis, Arthritis, Skin rash, Flexion contracture, Conjunctivitis	OMIM:617591
Nail-Patella Syndrome	Abnormality of the knee, Cubitus valgus, Reduced bone mineral density, Contracture of the distal ...	ORPHA:2614
Marshall Syndrome	Osteoarthritis, Genu valgum	ORPHA:560
Granulomatous Disease, Chronic, X-Linked	Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu...	OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu...	OMIM:233690
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Arthritis, Limitation of joint mobility, Peritonitis	ORPHA:343
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Pustule	ORPHA:48377
Immunodeficiency 21	Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in...	OMIM:614172
Specific Granule Deficiency 2	Recurrent bacterial infections, Sepsis, Recurrent otitis media, Recurrent pneumonia	OMIM:617475
Wilson Disease	Hepatitis, Arthritis, Acute hepatitis, Pathologic fracture, Joint swelling	ORPHA:905
Autoimmune Hepatitis	Inflammation of the large intestine, Sclerosing cholangitis, Fulminant hepatitis, Arthritis, Acut...	ORPHA:2137
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Recurrent bacterial infections, Decreased circulating total IgA, Decreased specific antibody resp...	ORPHA:221139
Reynolds Syndrome	Arthritis, Infectious encephalitis, Skin rash, Keratoconjunctivitis sicca	ORPHA:779
Microscopic Polyangiitis	Sinusitis, Pericarditis, Episcleritis, Peritonitis, Arthritis, Pancreatitis, Increased inflammato...	ORPHA:727
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Joint dislocation, Arthritis, Uveitis, Inflammatory abnormality of the eye, Skin ra...	ORPHA:36412
Rheumatic Fever	Sinusitis, Myocarditis, Pericarditis, Endocarditis, Arthritis	ORPHA:3099
Vici Syndrome	Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat...	OMIM:242840
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Erythroderma, Hepatitis, Arthritis, Glomerulonephritis	OMIM:304790
Reactive Arthritis	Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Enthesitis,...	ORPHA:29207
Loeys-Dietz Syndrome 5	Flexion contracture of toe, Congenital finger flexion contractures, Joint hypermobility, Eosinoph...	OMIM:615582
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent infection of the gastrointestinal tract, Lack of T cell function, Recurrent opportunist...	ORPHA:35078
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Mixed Connective Tissue Disease	Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Arthritis, Gastritis, Skin rash,...	ORPHA:809
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Recurrent otitis media, Decreased lymphocyte proliferation in response to anti-...	OMIM:600802
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Pneumonia, Bronchiectasis, Recurrent otitis media, Arthritis...	OMIM:614700
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Eczema, Erythroderma	OMIM:619510
Immunodeficiency 10	Recurrent bacterial infections, Recurrent infections	OMIM:612783
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Rec...	OMIM:102700
Synaptic Congenital Myasthenic Syndromes	Facial palsy, Recurrent lower respiratory tract infections, Abnormal synaptic transmission at the...	ORPHA:98915
Adiposis Dolorosa	Recurrent skin infections, Arthritis	ORPHA:36397
Dowling-Degos Disease	Acne inversa, Arthritis	ORPHA:79145
Cryoglobulinemic Vasculitis	Keratoconjunctivitis sicca, Viral hepatitis, Arthritis	ORPHA:91138
Bacterial Toxic-Shock Syndrome	Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Myositis, Fasciitis, Hep...	ORPHA:36234
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Gaucher Disease	Hepatitis, Joint dislocation, Arthrogryposis multiplex congenita, Osteopenia, Osteomyelitis, Incr...	ORPHA:355
Pachydermoperiostosis	Eczematoid dermatitis, Genu varum, Seborrheic dermatitis, Osteoporosis, Acne, Arthritis, Osteomye...	ORPHA:2796
Immunodeficiency 23	Severe varicella zoster infection, Increased circulating IgG level, Chronic mucocutaneous candidi...	OMIM:615816
Symptomatic Form Of Hemochromatosis Type 1	Osteoporosis, Arthritis, Joint stiffness, Stiff interphalangeal joints, Arthropathy, Joint swelling	ORPHA:465508
Insulin-Resistance Syndrome Type B	Nephritis, Osteoarthritis, Skin rash, Pneumonia	ORPHA:2298
Autosomal Dominant Severe Congenital Neutropenia	Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent ear ...	ORPHA:486
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increased circul...	OMIM:617241
Pgm3-Cdg	Recurrent bacterial infections, Sepsis, Increased circulating IgA level, Recurrent fungal infecti...	ORPHA:443811
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Flexion contracture, Osteolysis	ORPHA:220393
Fusariosis	Sinusitis, Pneumonia, Bronchiectasis, Peritonitis, Myositis, Fasciitis, Panniculitis, Arthritis, ...	ORPHA:228119
Leukocyte Adhesion Deficiency, Type I	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent gram-negative bact...	OMIM:116920
Hunter-Macdonald Syndrome	Premature osteoarthritis, Cubitus valgus, Joint contracture of the hand, Camptodactyly, Delayed c...	OMIM:611962
Overlap Myositis	Subluxation of the small joints of the hand, Arthritis, Rheumatoid arthritis	ORPHA:206572
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Recurrent bacterial infections	OMIM:603585
Omenn Syndrome	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections	OMIM:603554
Aneurysm-Osteoarthritis Syndrome	Knee osteoarthritis, Osteoporosis, Intervertebral disc degeneration, Osteoarthritis of the small ...	ORPHA:284984
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Peritonitis, Myositis, Abnormal sacroiliac joint morphology, Fasciitis, Arthritis, ...	ORPHA:32960
Relapsing Polychondritis	Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hepatitis, Arthritis, K...	ORPHA:728
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Arthritis, Increase...	ORPHA:183
Sitosterolemia 1	Arthritis	OMIM:210250
Chikungunya	Infectious encephalitis, Synovitis, Arthritis, Ankle joint effusion, Joint swelling, Osteolysis, ...	ORPHA:324625
Whipple Disease	Myocarditis, Infectious encephalitis, Pericarditis, Myositis, Arthritis, Uveitis	ORPHA:3452
Complement Component 5 Deficiency	Recurrent meningococcal disease	OMIM:609536
Pediatric Systemic Lupus Erythematosus	Myositis, Discoid lupus rash, Nephritis, Arthritis, Malar rash, Skin rash	ORPHA:93552
Polymyositis	Chondrocalcinosis, Pericarditis, Arthritis	ORPHA:732
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis	OMIM:612840
Osteogenesis Imperfecta	Fractures of the long bones, Increased susceptibility to fractures, Osteoporosis, Wormian bones, ...	ORPHA:666
Stickler Syndrome	Chronic otitis media, Joint dislocation, Reduced bone mineral density, Genu valgum, Hip dislocati...	ORPHA:828
Congenital Tufting Enteropathy	Arthritis, Punctate keratitis	ORPHA:92050
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyo...	OMIM:242700
Kid Syndrome	Keratoconjunctivitis sicca, Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess fo...	ORPHA:477
Hypermobile Ehlers-Danlos Syndrome	Keratoconjunctivitis sicca, Joint dislocation, Wormian bones, Abnormality of the wrist, Hip dislo...	ORPHA:285
Scleroderma	Myocarditis, Pericarditis, Episcleritis, Fasciitis, Arthritis, Osteomyelitis, Keratitis, Uveitis,...	ORPHA:801
Localized Scleroderma	Sclerosis of finger phalanx, Fasciitis, Esophagitis, Arthritis, Uveitis, Flexion contracture, Has...	ORPHA:90289
Hermansky-Pudlak Syndrome 2	Recurrent bacterial infections, Reduced natural killer cell activity, Chronic oral candidiasis, R...	OMIM:608233
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Recurrent candida infections, Impaired T cell function	OMIM:201100
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Myosi...	ORPHA:3243
X-Linked Hypophosphatemia	Genu varum, Sacroiliac joint synovitis, Rickets, Generalized osteosclerosis, Craniosynostosis, Ar...	ORPHA:89936
Spondyloenchondrodysplasia	Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis, Skin rash	ORPHA:1855
Farber Disease	Abnormality of the knee, Abnormality of the elbow, Osteoporosis, Arthritis, Abnormality of the wr...	ORPHA:333
Classical Ehlers-Danlos Syndrome	Generalized joint laxity, Shoulder dislocation, Dislocated radial head, Osteopenia, Joint swellin...	ORPHA:287
Immunodeficiency 58	Decreased specific antibody response to vaccination, Helicobacter pylori infection, Recurrent cut...	OMIM:618131
Familial Mediterranean Fever	Pericarditis, Peritonitis, Arthritis, Crohn's disease, Orchitis, Erysipelas	OMIM:249100
Autoimmune Lymphoproliferative Syndrome	Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,...	OMIM:601859
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Osteolytic defects of the phalanges of the hand, Arthritis, Foot acroosteolysis	OMIM:161700
Postinfectious Vasculitis	Persistent human papillomavirus infection, Severe varicella zoster infection, Recurrent Staphyloc...	ORPHA:48435
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections	ORPHA:60033
Hyper-Igd Syndrome	Lymphadenitis, Chronic oral candidiasis, Arthritis, Serositis, Skin rash	OMIM:260920
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Osteolytic defects of the distal phalanges of the hand, Reduced...	ORPHA:740
Marfan Syndrome	Genu recurvatum, Joint hypermobility, Protrusio acetabuli, Limited elbow extension, Camptodactyly...	OMIM:154700
Acromegaly	Osteoarthritis, Acne, Joint swelling	ORPHA:963
Shigellosis	Myocarditis, Pneumonia, Peritonitis, Acute colitis, Arthritis, Uveitis, Ulcerative colitis, Conju...	ORPHA:810
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Abnormal epiphyseal ossification, Contractures of the large joints, Limitatio...	ORPHA:580
Loeys-Dietz Syndrome 3	Hip osteoarthritis, Knee osteoarthritis, Craniosynostosis, Intervertebral disc degeneration, Eosi...	OMIM:613795
Immunodeficiency 47	Recurrent bacterial infections, Decreased circulating total IgA, Decreased circulating total IgG,...	OMIM:300972
Immunoglobulin A Vasculitis	Infectious encephalitis, Episcleritis, Pustule, Arthritis, Skin rash, Orchitis	ORPHA:761
Somatomammotropinoma	Osteoarthritis, Joint swelling	ORPHA:314769
Chédiak-Higashi Syndrome	Recurrent bacterial infections, Abnormal platelet function, Recurrent infections, Decreased nerve...	ORPHA:167
Simple Cryoglobulinemia	Pericarditis, Nephritis, Arthritis, Membranoproliferative glomerulonephritis, Viral hepatitis	ORPHA:91139
Lymphatic Filariasis	Ankle swelling, Lymphadenitis, Knee osteoarthritis, Epididymitis, Orchitis, Glomerulonephritis	ORPHA:2035
Catastrophic Antiphospholipid Syndrome	Myocarditis, Arthritis	ORPHA:464343
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Skin rash, Osteolysis	ORPHA:100026
Hereditary Spherocytosis	Gout, Maculopapular exanthema	ORPHA:822
Systemic Sclerosis	Myocarditis, Pericarditis, Arthritis, Osteomyelitis, Joint swelling, Recurrent skin infections, F...	ORPHA:90291
Juvenile Dermatomyositis	Pericarditis, Myositis, Arthritis, Skin rash, Limitation of joint mobility	ORPHA:93672
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis	Granulomatous coronary arteritis, Rheumatoid arthritis, Iritis	OMIM:108050
Whim Syndrome	Recurrent bacterial infections, Sepsis, Decreased circulating antibody level, Meningitis, Recurre...	ORPHA:51636
Dysbetalipoproteinemia	Gout, Acute pancreatitis	ORPHA:412
Giant Cell Arteritis	Joint stiffness, Pericarditis, Arthritis	ORPHA:397
Riddle Syndrome	Pneumonia, Chronic sinusitis, Arthritis, Otitis media, Recurrent pneumonia, Recurrent sinusitis	ORPHA:420741
Behçet Disease	Keratoconjunctivitis sicca, Infectious encephalitis, Pericarditis, Endocarditis, Retrobulbar opti...	ORPHA:117
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Gout	OMIM:174000
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Recurrent infections, Decreased specific anti-polysaccharide antibody level, Impai...	OMIM:614576
Listeriosis	Myocarditis, Stiff neck, Infectious encephalitis, Pericarditis, Pustule, Pneumonia, Endocarditis,...	ORPHA:533
Glycogen Storage Disease Ia	Osteoporosis, Gout, Pancreatitis	OMIM:232200
Myasthenia Gravis	Hashimoto thyroiditis, Hepatitis, Rheumatoid arthritis, Myositis	ORPHA:589
Chediak-Higashi Syndrome	Recurrent infections, Decreased nerve conduction velocity, Recurrent bacterial skin infections, I...	OMIM:214500
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Eczema, Panniculitis, Recurrent otitis media, Arthritis, Skin rash, Recurrent sinusitis, Hashimot...	OMIM:615688
Glycogen Storage Disease Ib	Osteoporosis, Gout, Pancreatitis	OMIM:232220
Blau Syndrome	Abnormal inflammatory response, Polyarticular arthritis, Pericarditis, Synovitis, Posterior uveit...	ORPHA:90340
Coccidioidomycosis	Pericarditis, Folliculitis, Pneumonia, Peritonitis, Panniculitis, Arthritis, Pancreatitis, Osteom...	ORPHA:228123
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections, Decreased circulating antibody level	OMIM:248500
Wiskott-Aldrich Syndrome	Sepsis, Recurrent herpes, Increased circulating IgA level, Recurrent otitis media, Abnormal delay...	OMIM:301000
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections	OMIM:244460
Kawasaki Disease	Myocarditis, Pericarditis, Cheilitis, Hepatitis, Arthritis, Skin rash, Cholecystitis, Conjunctivitis	ORPHA:2331
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Wiskott-Aldrich Syndrome, Autosomal Dominant	Increased circulating IgA level, Abnormal delayed hypersensitivity skin test, Decreased specific ...	OMIM:600903
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent bacterial infections, Sepsis, Recurrent respiratory infections	OMIM:612541
Primary Sjögren Syndrome	Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i...	ORPHA:289390
Obesity Due To Congenital Leptin Deficiency	Recurrent upper respiratory tract infections, Orthostatic hypotension due to autonomic dysfunctio...	ORPHA:66628
Mirage Syndrome	Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections	OMIM:617053
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthritis, Keratiti...	ORPHA:906
Lymphoid Interstitial Pneumonia	Keratoconjunctivitis sicca, Eczema, Bronchiectasis, Rheumatoid arthritis, Skin rash	ORPHA:79128
Leukocyte Adhesion Deficiency	Recurrent bacterial infections, Sepsis, BCGosis, Recurrent fungal infections, Chronic oral candid...	ORPHA:2968
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Cholangitis, Eczema, Erythroderma, Ankle swelling, Arthriti...	ORPHA:3260
Obesity Due To Leptin Receptor Gene Deficiency	Recurrent upper respiratory tract infections, Orthostatic hypotension due to autonomic dysfunctio...	ORPHA:179494
Thymoma	Glomerulonephritis, Rheumatoid arthritis, Ulcerative colitis, Myositis	ORPHA:99867
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Bronchiectasis, Hepatitis, Recurrent otitis media, Arthritis, Osteomyelitis, Gastritis...	OMIM:619381
Multiple Osteochondromas	Abnormality of the carpal bones, Abnormality of the knee, Femoroacetabular impingement, Arthritis...	ORPHA:321
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Recurrent otitis media, Rheumatoid arthritis, Juvenile rheumatoid arthritis, Recurrent...	OMIM:607944
Autoimmune Lymphoproliferative Syndrome	Glomerulonephritis, Hepatitis, Panniculitis, Arthritis, Gastritis, Uveitis, Thyroiditis, Recurren...	ORPHA:3261
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Arthritis, Joint hyperflexibility	ORPHA:93111
Immunodeficiency 87 And Autoimmunity	Recurrent bacterial infections, Sepsis, Abnormal lymphocyte proliferation, Recurrent fungal infec...	OMIM:619573
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Recurrent otitis media, Recurrent mycobacterial infections	ORPHA:244
Autoimmune Polyendocrinopathy Type 4	Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Hepatitis, Osteopen...	ORPHA:227990
Autosomal Dominant Dopa-Responsive Dystonia	Progressive flexion contractures, Rheumatoid arthritis	ORPHA:98808
Plague	Inflammation of the large intestine, Abnormality of the elbow, Endocarditis, Lymphadenitis, Chapp...	ORPHA:707
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Severe varicella zoster infection, Defective T cell proliferation, Increased circulating IgG leve...	OMIM:618213
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Increased susceptibility to fractures, Osteoporosis, Gout, P...	ORPHA:79259
Glycogen Storage Disease Ic	Chronic pancreatitis, Gout	OMIM:232240
Autoimmune Polyendocrinopathy Type 3	Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Hepatitis, Osteopen...	ORPHA:227982
Hereditary Orotic Aciduria	Recurrent respiratory infections, Impaired T cell function	ORPHA:30
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Periodontitis, Osteoarthritis, Joint hyperflexibil...	ORPHA:286
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Cheilitis, Arthritis, Genu valgum, Periodontitis, Hip dislocation, Recurren...	ORPHA:534
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Bronchiectasis, Arthritis, Iridocyclitis, Uveitis	OMIM:181000
Aicardi-Goutières Syndrome	Myositis, Panniculitis, Arthritis, Multiple joint contractures, Chilblains	ORPHA:51
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal lymphocyte physiology, Recurrent infections, Impaired T cel...	ORPHA:1830
Shwachman-Diamond Syndrome	Recurrent bacterial infections, Sepsis, Recurrent viral infections, Bone marrow hypocellularity, ...	ORPHA:811
Dermatomyositis	Myocarditis, Chondrocalcinosis, Pericarditis, Arthritis	ORPHA:221
Sickle Cell Anemia	Recurrent bacterial infections	OMIM:603903
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent aspiration pneumonia, Fasciitis, Neuropathic arthropathy, Septic arthritis, Osteomyelit...	ORPHA:642
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Pneumonia, Acute colitis, Pancreatitis, Septic arthritis	ORPHA:544482
Gaisböck Syndrome	Gout, Cholecystitis	ORPHA:90041
Marburg Hemorrhagic Fever	Pericarditis, Arthritis, Pancreatitis, Uveitis, Maculopapular exanthema, Skin rash, Orchitis	ORPHA:99826
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger	ORPHA:217093
Fabry Disease	Arthritis, Reduced bone mineral density	ORPHA:324
22Q11.2 Deletion Syndrome	Chronic otitis media, Seborrheic dermatitis, Acne, Arthritis, Multiple suture craniosynostosis, P...	ORPHA:567
Igg4-Related Retroperitoneal Fibrosis	Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Membranous nephropathy...	ORPHA:49041
Chronic Graft Versus Host Disease	Keratoconjunctivitis sicca, Urinary bladder inflammation, Bronchiectasis, Fasciitis, Arthritis, F...	ORPHA:99921
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Aspartylglucosaminuria	Chronic otitis media, Arthritis, Joint stiffness	ORPHA:93
Gitelman Syndrome	Hashimoto thyroiditis, Chondrocalcinosis, Tubulointerstitial nephritis, Gout	ORPHA:358
Lysinuric Protein Intolerance	Recurrent bacterial infections, Increased circulating antibody level, Decreased circulating antib...	ORPHA:470
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Lacrimoauriculodentodigital Syndrome	Keratoconjunctivitis sicca, Keratoconjunctivitis, Arthritis	ORPHA:2363
Tetrasomy 9P	Joint dislocation, Pericarditis, Arthritis, Myositis	ORPHA:3310
Noonan Syndrome 1	Cubitus valgus, Synovitis	OMIM:163950
Velocardiofacial Syndrome	Recurrent infections, Impaired T cell function	OMIM:192430
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent bacterial infections, Recurrent respiratory infections, Aganglionic megacolon, Recurren...	ORPHA:2273
Orotic Aciduria	Impaired T cell function	OMIM:258900
Wiedemann-Rautenstrauch Syndrome	Synovitis, Recurrent otitis media, Osteopenia, Joint hypermobility, Widely patent fontanelles and...	ORPHA:3455
Marfan Syndrome	Arthralgia/arthritis, Osteoporosis, Osteopenia, Joint hypermobility, Protrusio acetabuli, Limited...	ORPHA:558
Progeroid Short Stature With Pigmented Nevi	Recurrent viral infections, Impaired T cell function	OMIM:176690
Choreoacanthocytosis	Arthritis	ORPHA:2388
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology	ORPHA:2237
Digeorge Syndrome	Recurrent infections, Impaired T cell function	OMIM:188400

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 Mmp3

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 Mmp3.

No publications found that use IMPC mice or data for Mmp3.

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