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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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 Similarity of
phenotypes
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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter