banner
Genes Phenotypes Help, News, Blog

Gene: C1qtnf3 MGI:1932136

Log in to follow

Gene Summary

Name:
C1q and tumor necrosis factor related protein 3
Synonyms:
CTRP3,  Corcs,  2310005P21Rik,  CORS-26

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level C1qtnf3tm2b(EUCOMM)Wtsi HOM Early adult 2.13×10-07
increased circulating creatine kinase level C1qtnf3tm2b(EUCOMM)Wtsi HOM Late adult 5.01×10-15
increased circulating aspartate transaminase level C1qtnf3tm2b(EUCOMM)Wtsi HOM Late adult 6.95×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Echo

M-Mode Images

48 Images

View images
Embryo LacZ

LacZ images wholemount

8 Images

View images
Adult LacZ

LacZ Images Wholemount

7 Images

View images

Human diseases caused by C1qtnf3 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 C1qtnf3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis OMIM:216950
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Glycoprotein Storage Disease
Gout OMIM:232900
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Histiocytosis, Familial Lipochrome
Polyarticular arthritis, Increased circulating antibody level OMIM:235900
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, Re... OMIM:610163
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:619220
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 61
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... OMIM:300310
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia OMIM:619773
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Congenital Atransferrinemia
Arthritis ORPHA:1195
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi... ORPHA:2619
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... ORPHA:85435
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu... OMIM:618534
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... OMIM:601859
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... OMIM:618982
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia OMIM:247800
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease... OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613502
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... OMIM:617765
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media OMIM:312863
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased circulating IgE level,... ORPHA:98813
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Autoimmunity, Glomerulonephritis, Synovitis, Arthritis, Decreased circulating compleme... ORPHA:567544
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... ORPHA:564003
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... OMIM:619707
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... OMIM:601492
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia OMIM:601457
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, Recurre... OMIM:612692
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity OMIM:130020
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv... OMIM:620321
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... ORPHA:69126
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness OMIM:604864
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... OMIM:300400
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... OMIM:603909
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Reduced isohemagglu... OMIM:618459
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Autoimmune Hepatitis
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle... ORPHA:2137
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... ORPHA:231
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash OMIM:609939
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Antinuclear an... OMIM:618048
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... OMIM:616100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Increased circulat... OMIM:618495
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Common Variable, 2
Impaired T cell function, Autoimmunity, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu... OMIM:240500
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling ORPHA:1525
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Increased circulating IgG... OMIM:209950
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn... OMIM:243700
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,... OMIM:600969
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Activated Pi3K-Delta Syndrome
Pneumonia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, Increased circulat... ORPHA:397596
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Infla... OMIM:619281
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,... OMIM:604416
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... OMIM:617638
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,... ORPHA:93308
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Limitation of joint mobility ORPHA:2582
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence... OMIM:607594
Systemic Lupus Erythematosus
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... OMIM:152700
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Immunodeficiency 109 With Lymphoproliferation
Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Recurrent sinusitis, ... OMIM:620282
Vertical Talus, Congenital
Arthritis OMIM:192950
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti... ORPHA:449400
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ... OMIM:615767
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, Th... OMIM:617388
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Reduced natur... OMIM:615559
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec... OMIM:615513
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Whim Syndrome 1
Decreased circulating IgG level, Bronchiectasis, Decreased circulating antibody level OMIM:193670
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Eczema, Craniosynostosis, Keratitis, Increased circulating IgE level, Hip dislocatio... OMIM:618523
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... ORPHA:85408
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Ulcerative colitis, Decreased circulating total ... OMIM:618394
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis ORPHA:79099
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Skin rash, Increased ... OMIM:615934
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures OMIM:616833
Schnitzler Syndrome
Increased circulating IgM level, Increased bone mineral density, Skin rash, Arthritis ORPHA:37748
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue ORPHA:2762
Melorheostosis
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness ORPHA:2485
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Recurre... ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Autoimmune thrombocytopenia, Increased circulating IgE level, In... ORPHA:169154
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... OMIM:619510
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... OMIM:301082
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ... OMIM:619752
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat... ORPHA:3261
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum ORPHA:1822
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans OMIM:165800
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Increased circulating IgE level, Re... OMIM:147060
Immunodeficiency 105
Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... OMIM:619924
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... ORPHA:33110
Myeloma, Multiple
Paraproteinemia OMIM:254500
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Increased circulating IgG level, Limited elbow flexion, Limited... ORPHA:206594
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Decreased circulating complement factor B concentr... OMIM:610984
Pseudoachondroplasia
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed epiphyseal oss... ORPHA:750
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... ORPHA:166002
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating I... OMIM:619824
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Auto... ORPHA:436159
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... OMIM:228000
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Recurrent skin infections, Joint stiffness, Reduced bone mineral density, Decr... OMIM:620210
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea... OMIM:615577
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complet... OMIM:613496
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis OMIM:616414
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... ORPHA:91139
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Increased circ... ORPHA:169160
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Autoimmunity, Abnormal joint morphology, Limitation of joi... ORPHA:47612
Immunodeficiency 96
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... OMIM:619774
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Pneumonia, Arthritis, ... ORPHA:229717
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Increased circulating IgE level, Recurrent pneu... OMIM:618282
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eczema, Autoimmunity, Incre... ORPHA:443811
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu valgum, Hip oste... OMIM:132400
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum ORPHA:85198
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... OMIM:617241
Boutonneuse Fever
Skin rash, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanthema ORPHA:83313
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis OMIM:618618
Hemophilia B
Osteoarthritis, Joint hemorrhage OMIM:306900
Lesch-Nyhan Syndrome
Gout ORPHA:510
Zika Virus Disease
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Increased circulating IgM lev... ORPHA:448237
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Familial Cold Autoinflammatory Syndrome 2
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis OMIM:611762
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Erythema... OMIM:614700
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... OMIM:607078
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eczema, Allergic rhinitis, ... OMIM:615816
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... ORPHA:85436
Mu-Heavy Chain Disease
Increased circulating antibody level, Osteolysis, Osteoporosis ORPHA:100024
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm... ORPHA:183675
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Recurre... ORPHA:47
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Joint stiffness ORPHA:1345
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Eczema, Recurrent pneumonia, Decreased circulating antibody level, Septic arthritis OMIM:617780
Albers-Schönberg Osteopetrosis
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... ORPHA:53
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormality of the elbow, Increased circulating IgE level, Abnormality of the wrist ORPHA:89843
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Hypochondroplasia
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum ORPHA:429
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... OMIM:614069
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Sclerosing cholangitis, Abnormal B cell proliferation, Eso... OMIM:619652
Rheumatoid Arthritis
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... OMIM:180300
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... OMIM:208230
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, B... OMIM:241600
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Conjunctivitis, Skin rash, Uveitis OMIM:120100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatit... OMIM:304790
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Pfapa Syndrome
Arthritis, Infectious encephalitis ORPHA:42642
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R... ORPHA:331235
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Sapho Syndrome
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... ORPHA:793
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Angiostrongyliasis
Stiff neck, Increased circulating IgA level, Increased circulating specific IgE antibody, Increas... ORPHA:74
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... OMIM:300755
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movement, Hip osteoart... ORPHA:99642
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr... ORPHA:324964
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... OMIM:619705
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... ORPHA:93284
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... OMIM:608654
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Juvenile rheumatoid arth... ORPHA:85414
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... ORPHA:93311
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Immunodeficiency 22
Pericarditis, Autoimmunity, Decreased circulating total IgM, Panniculitis, Decreased circulating ... OMIM:615758
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... ORPHA:93351
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia OMIM:616069
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level, Autoimmunity, Autoimmune th... OMIM:614470
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Autoimmunity, Increased circulating IgE level, Inc... ORPHA:449432
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Fulminant hepatitis, Decreased circul... OMIM:308240
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Osteoarthritis, Bronchiectasis, Joint hypermobility OMIM:620080
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Eosinophilic Fasciitis
Arthritis, Fasciitis, Myositis ORPHA:3165
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis, Inc... OMIM:617591
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Anti-Glomerular Basement Membrane Disease
Arthritis, Autoimmunity ORPHA:375
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Rheumatoid factor positive, Pneumonia, Glomerulone... ORPHA:1304
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Peritonitis, Limitation of joint mobility, Arthritis, Recurrent ... ORPHA:343
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... OMIM:186580
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Decreased circulating co... ORPHA:329918
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lymphadenitis, Decreased circulating antibo... ORPHA:331206
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca OMIM:617321
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Familial Cold Urticaria
Arthritis, Conjunctivitis ORPHA:47045
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... ORPHA:64744
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Majeed Syndrome
Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Pustul... ORPHA:77297
Spondyloepimetaphyseal Dysplasia, Irapa Type
Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum OMIM:271650
Wild Type Abeta2M Amyloidosis
Arthropathy, Arthritis ORPHA:85446
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Cinca Syndrome
Patellar overgrowth, Arthritis, Skin rash, Uveitis OMIM:607115
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Impaired oxidative burst, Abnormal circulating IgG level OMIM:226990
Enthesitis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligoarthritis, Enthesitis, Arth... ORPHA:85438
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... ORPHA:2298
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Increased circulating IgG level, Tubulointerstitial ne... ORPHA:449395
Pediatric Systemic Lupus Erythematosus
Myositis, Antiphospholipid antibody positivity, Skin rash, Antinuclear antibody positivity, Disco... ORPHA:93552
Hemochromatosis, Type 3
Arthritis OMIM:604250
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Kimura Disease
Increased circulating IgE level ORPHA:482
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis ORPHA:90653
Ulnar Hemimelia
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... ORPHA:93320
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyarticular arthritis, Conjunctiv... OMIM:142680
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... OMIM:259100
Thymoma
Myositis, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Glomer... ORPHA:99867
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge... ORPHA:166011
Combined Oxidative Phosphorylation Deficiency 53
Arthritis, Osteomyelitis, Septic arthritis OMIM:619423
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Graft Versus Host Disease
Fasciitis, Myositis, Acute hepatitis, Dupuytren contracture, Limited elbow movement, Maculopapula... ORPHA:39812
Psoriasis 14, Pustular
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis OMIM:614204
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist ORPHA:1657
Tularemia
Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Increased circulating antibody level, Oti... ORPHA:3392
Adult-Onset Still Disease
Pericarditis, Skin rash, Myocarditis, Hepatitis, Joint swelling, Arthritis, Bone marrow hypocellu... ORPHA:829
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Lyme Disease
Arthritis, Infectious encephalitis, Joint swelling, Uveitis ORPHA:91546
Muckle-Wells Syndrome
Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a... ORPHA:575
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Decreased circulating ant... OMIM:613011
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Joint dislocation, Skin rash, Autoimmunity, Uveitis, Arthritis, Conjunctivitis, Com... ORPHA:36412
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Severe Hemophilia A
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join... ORPHA:169802
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Chronic rh... OMIM:256500
Immunodeficiency 36 With Lymphoproliferation
Autoimmunity, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgG level, D... OMIM:616005
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Osteolysis, Inc... ORPHA:228123
Moderate Hemophilia A
Arthropathy, Hip contracture, Limitation of joint mobility, Synovitis, Joint swelling, Joint hemo... ORPHA:169805
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Decreased circulating antibody level, Increased circ... ORPHA:29073
Catastrophic Antiphospholipid Syndrome
Antiphospholipid antibody positivity, Anticardiolipin IgG antibody positivity, Myocarditis, Syste... ORPHA:464343
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Recurrent skin infections, Eczema, Neutropenia in presence of anti-n... OMIM:619802
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Alpha-Mannosidosis
Chronic otitis media, Arthritis, Synostosis of joints ORPHA:61
Adult-Onset Nemaline Myopathy
Paraproteinemia, Flexion contracture ORPHA:171442
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Peeling Skin Syndrome 1
Increased circulating IgE level, Erythroderma OMIM:270300
Nail-Patella Syndrome
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... ORPHA:2614
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation OMIM:184100
Cryoglobulinemic Vasculitis
Viral hepatitis, Circulating immune complexes, Arthritis, Keratoconjunctivitis sicca, Cryoglobuli... ORPHA:91138
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art... ORPHA:449280
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Bone marrow hypocellularity, Recurrent aphthous stomatitis, Chronic ... OMIM:301078
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... ORPHA:727
Melioidosis
Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Septic arth... ORPHA:31202
Roifman-Chitayat Syndrome
Osteopenia, Arthritis, Pneumonia OMIM:613328
Overlap Myositis
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... ORPHA:206572
Thrombocytopenia 1
Increased circulating IgE level, Joint hemorrhage, Eczema, Increased circulating IgA level OMIM:313900
Alkaptonuria
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... OMIM:203500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Adult Idiopathic Neutropenia
Increased circulating IgM level, Antineutrophil antibody positivity, Recurrent aphthous stomatitis ORPHA:2688
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh... ORPHA:100026
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... ORPHA:227990
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation... ORPHA:221139
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis OMIM:109650
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Autoimmunity, Gastritis, Joint stiffness, Myocarditis, Osteoly... ORPHA:809
Aortic Aneurysm, Familial Thoracic 12
Arthritis OMIM:619825
Hyper-Igd Syndrome
Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, I... OMIM:260920
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant... ORPHA:1855
Takayasu Arteritis
Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis ORPHA:3287
Adiposis Dolorosa
Arthritis, Recurrent skin infections, Autoimmunity ORPHA:36397
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce... ORPHA:35078
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Autoimmunity,... ORPHA:158061
Rift Valley Fever
Skin rash, Hepatitis, Uveitis, Increased circulating IgG level, Increased circulating IgM level, ... ORPHA:319251
Q Fever
Pericarditis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Maculopapular exa... ORPHA:781
Pseudoachondroplasia
Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car... OMIM:177170
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Systemic Lupus Erythematosus
Lupus nephritis, Antinuclear antibody positivity, Discoid lupus rash, Anti-La/SS-B antibody posit... ORPHA:536
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Gout ORPHA:411543
Laron Syndrome
Osteoarthritis, Abnormality of the elbow ORPHA:633
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Multiple joint dislocation, Gener... ORPHA:93360
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Sinusitis, Inflammatory abnormali... OMIM:102700
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... ORPHA:227982
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Colitis, Pso... ORPHA:37042
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... OMIM:130000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Acne, Osteoporosis ORPHA:77296
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... ORPHA:3409
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ... OMIM:242860
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased lymphoc... OMIM:606367
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Igg4-Related Pachymeningitis
Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Nephritis, Pan... ORPHA:449427
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Decreased circulating total IgM, Arthritis, Otitis media, Recurre... ORPHA:420741
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Skin rash, Eczema, Recurrent fractures, Craniosynostosis, Increased ci... ORPHA:2314
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Reactive Arthritis
Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthritis, Inflammation of the... ORPHA:29207
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgA level, Increased circulating IgM level, Joint swelling, Pann... OMIM:617099
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility OMIM:108300
Wilson Disease
Hepatitis, Joint swelling, Arthritis, Acute hepatitis, Pathologic fracture ORPHA:905
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Hip dislocation, Knee disloca... OMIM:618000
Rheumatic Fever
Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis ORPHA:3099
Hyperuricemia, Hprt-Related
Podagra OMIM:300323
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Myasthenia Gravis
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... ORPHA:589
Reynolds Syndrome
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis ORPHA:779
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Phalangeal dislocation, Osteoarthritis, Osteoporosis, Advanced o... OMIM:251450
Prolidase Deficiency
Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Systemic lupus erythematosus, Incr... OMIM:170100
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Flexion contracture, Osteolysis, Autoimmunity ORPHA:220393
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Increased circulating ant... ORPHA:77259
Caffey Disease
Increased circulating antibody level ORPHA:1310
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased circulating total IgG, Osteomalacia, Pneumonia, Skin rash, Recurrent ski... OMIM:619381
Pachydermoperiostosis
Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteolysi... ORPHA:2796
Generalized Pustular Psoriasis
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma ORPHA:247353
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Myocarditis, Endoc... ORPHA:183
Tick-Borne Encephalitis
Stiff neck, Increased circulating IgG level, Increased circulating IgM level, Abnormality of seru... ORPHA:297
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Keratitis, Antinuclear antibody positiv... ORPHA:449563
Dowling-Degos Disease
Arthritis, Acne inversa ORPHA:79145
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... ORPHA:228119
Netherton Syndrome
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... ORPHA:634
Chikungunya
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Crusting erythematous derm... ORPHA:324625
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Limited elbow extension, Genu varum OMIM:602111
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... ORPHA:1163
Polymyositis
Arthritis, Pericarditis, Autoimmunity, Chondrocalcinosis ORPHA:732
Pneumocystosis
Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody level, Chron... ORPHA:723
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Localized Scleroderma
Fasciitis, Autoimmunity, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finge... ORPHA:90289
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Joint stiffness ORPHA:1493
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Autoimmunity ORPHA:2902
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess... OMIM:301074
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Joint stiffness, Osteoporosis, Arthritis, Joint swelling, Stiff interphalangeal joints ORPHA:465508
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi... ORPHA:728
Leishmaniasis
Rhinitis, Increased circulating antibody level ORPHA:507
Alkaptonuria
Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Join... ORPHA:56
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... ORPHA:32960
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Hypophosphatemic rickets OMIM:307800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Eczema, Erythema nodosum, Decreased circulating antibody level, Arthritis, Panniculiti... OMIM:615688
Whipple Disease
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis ORPHA:3452
Say-Barber-Miller Syndrome
Eczema, Craniosynostosis, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Hip dislo... ORPHA:3132
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita... ORPHA:1427
Glycogen Storage Disease Vii
Gout OMIM:232800
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l... OMIM:607944
Alg12-Cdg
Ulnar deviation of the wrist, Partial absence of specific antibody response to Haemophilus influe... ORPHA:79324
Farber Disease
Abnormality of the knee, Flexion contracture, Osteoporosis, Abnormality of the elbow, Arthritis, ... ORPHA:333
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Antinuclear antibody ... ORPHA:90291
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Autoimmune antibody positivity ORPHA:90003
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Chronic decreased cirulating IgG2, Chronic oral candidiasis,... OMIM:615607
Lymphoid Interstitial Pneumonia
Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... ORPHA:79128
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Stiff neck, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Increased ... ORPHA:99827
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis ORPHA:92050
Multiple Epiphyseal Dysplasia Type 4
Dislocation of the femoral head, Joint stiffness, Flexion contracture, Delayed femoral head ossif... ORPHA:93307
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia, Pneumonia, Otitis media OMIM:602450
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Scleritis, Increased... ORPHA:91500
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:607143
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Primary Biliary Cholangitis
Autoimmunity, Increased circulating IgA level, Antinuclear antibody positivity, Osteoporosis, Hep... ORPHA:186
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Decreased circulating total IgM, Osteopetrosis, Decreased circulating IgG le... OMIM:612301
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Enlarged joints, Flexion contracture, Recurrent pneumonia OMIM:215150
Encephalitis Lethargica
Stiff neck, Increased circulating antibody level, Autoimmunity ORPHA:83600
Idiopathic Camptocormia
Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis ORPHA:1320
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular inflammatory infilt... ORPHA:49041
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... ORPHA:93314
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Arthritis, Erysipelas, Pancreatitis ORPHA:342
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Acut... ORPHA:810
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Autoimmunity, Limitation of joint mobility, Arthritis ORPHA:93672
Ebola Hemorrhagic Fever
Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema ORPHA:319218
Blau Syndrome
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... ORPHA:90340
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:90362
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Eczema, Reduced natural killer cell activity, Increased circulating ... OMIM:301000
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas OMIM:249100
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration OMIM:619656
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Craniosynostosis, Increased circulating IgE level, Elbow flexion contract... ORPHA:508533
Sitosterolemia 1
Arthritis, Impaired platelet aggregation OMIM:210250
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Generalized bone deminer... ORPHA:93352
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Autoimmunity, Keratitis, Arthritis, Inflammation of the large intestine, Conju... ORPHA:906
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:300972
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Arthritis, In... OMIM:615846
Giant Cell Arteritis
Arthritis, Pericarditis, Joint stiffness ORPHA:397
Bloom Syndrome
Skin rash, Pneumonia, Cheilitis, Uveitis, Decreased circulating antibody level, Decreased circula... ORPHA:125
Lassa Fever
Increased circulating IgM level, Conjunctivitis ORPHA:99824
Listeriosis
Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocardit... ORPHA:533
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis ORPHA:761
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, Bronchiectasis, Decreased circulating IgG2 level, Def... OMIM:208900
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation... OMIM:181000
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand OMIM:190350
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Recurrent pneumonia, Increased circulating IgM level, Bone marrow hypocellul... OMIM:617303
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Decreased circulating IgG level, Flexion contracture, Erythroderma OMIM:601675
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, Cholecystitis ORPHA:2331
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Mgat2-Cdg
Osteopenia, Decreased circulating antibody level, Decreased lymphocyte proliferation in response ... ORPHA:79329
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis OMIM:161700
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Pericarditis, Flexion contracture, Decreased circulating IgG level, Decreased circula... OMIM:212065
Bloom Syndrome
Bronchiectasis, Malar rash, Decreased circulating total IgM, Decreased circulating IgG level, Dec... OMIM:210900
Viss Syndrome
Joint laxity, Chronic gastritis, Recurrent joint dislocation, Eczema, Generalized joint laxity, I... OMIM:619472
Gaucher Disease
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Recurrent fractures... ORPHA:355
Hereditary Spherocytosis
Maculopapular exanthema, Gout ORPHA:822
Dysbetalipoproteinemia
Acute pancreatitis, Gout ORPHA:412
Marshall Syndrome
Osteoarthritis, Genu valgum ORPHA:560
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Genu valgum, Delayed ossification of carpal bones, Laryngotracheomalacia, Decreased c... OMIM:271510
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Lead Poisoning
Abnormality of humoral immunity, Tubulointerstitial nephritis, Increased circulating IgE level, S... ORPHA:330015
Poems Syndrome
Sclerosis of hand bone, Sclerosis of skull base, Increased circulating antibody level, Sclerosis ... ORPHA:2905
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Rheumatoid arthritis ORPHA:98808
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Joint hypermobility, Decreased circulating IgA level, Decreased ... OMIM:617062
Glycogen Storage Disease Ia
Osteoporosis, Pancreatitis, Gout OMIM:232200
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Ankle swelling, Cholangitis, Eczema, Chronic hepatitis, Art... ORPHA:3260
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Autoimmunity, Decreased circulating antibody level, Decreased c... ORPHA:90363
Japanese Encephalitis
Stiff neck, Genu recurvatum, Elbow flexion contracture, Increased circulating IgM level, Increase... ORPHA:79139
Glycogen Storage Disease Ib
Inflammation of the large intestine, Osteoporosis, Pancreatitis, Gout OMIM:232220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Gout OMIM:174000
Loeys-Dietz Syndrome 5
Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finger flexion contracture... OMIM:615582
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Flexion contracture, Increased circulating IgM level, Conjunctivitis, Bone marro... ORPHA:505248
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Autoimmunity, Chilblains, Increased circulating interferon... ORPHA:51
Multiple Osteochondromas
Abnormality of the knee, Limitation of joint mobility, Abnormal carpal morphology, Femoroacetabul... ORPHA:321
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Osteoporosis, Enterocolitis, Gout, Increased susceptibility to fractures, Ulcerative ... ORPHA:79259
Vici Syndrome
Decreased circulating IgG level, Decreased T cell activation, Chronic mucocutaneous candidiasis, ... OMIM:242840
Cystic Echinococcosis
Membranous nephropathy, Increased circulating antibody level ORPHA:400
Plague
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Enterocolitis,... ORPHA:707
Lysinuric Protein Intolerance
Osteopenia, Glomerulonephritis, Antinuclear antibody positivity, Osteoporosis, Decreased circulat... ORPHA:470
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Joint stiffness, Hip dislocation, Cheilitis, Genu valgum, Join... ORPHA:534
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Myocarditis, Pancreatitis, Septic a... ORPHA:544482
Marburg Hemorrhagic Fever
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthritis, Increased circula... ORPHA:99826
22Q11.2 Deletion Syndrome
Acne, Autoimmunity, Impaired T cell function, Seborrheic dermatitis, Multiple suture craniosynost... ORPHA:567
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hyperflexibility, Arthritis ORPHA:93111
Wilson Disease
Osteomalacia, Osteoarthritis, Atypical or prolonged hepatitis, Osteoporosis, Chondrocalcinosis, J... OMIM:277900
Glycogen Storage Disease Ic
Stomatitis, Inflammation of the large intestine, Gout, Chronic pancreatitis OMIM:232240
Dubowitz Syndrome
Decreased circulating IgG level, Eczema, Otitis media, Decreased circulating IgA level OMIM:223370
Gaucher Disease Type 3
Increased bone mineral density, Increased circulating antibody level, Osteolysis, Increased susce... ORPHA:77261
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Craniosynostosis, Decreased circulating total IgM, Decreased circulating IgG level, Delayed crani... OMIM:620005
Dermatomyositis
Pericarditis, Autoimmunity, Myocarditis, Arthritis, Chondrocalcinosis ORPHA:221
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... ORPHA:284984
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Cysticercosis
Iridocyclitis, Stiff neck, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Hunter-Macdonald Syndrome
Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the hand, Delayed c... OMIM:611962
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis ORPHA:863
Scleromyxedema
Paraproteinemia ORPHA:167635
Alveolar Echinococcosis
Increased circulating antibody level, Cholangitis, Cutaneous abscess ORPHA:284
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Abnormality ... ORPHA:642
Osteogenesis Imperfecta
Osteopenia, Recurrent fractures, Protrusio acetabuli, Fractures of the long bones, Osteoarthritis... ORPHA:666
Primary Sclerosing Cholangitis
Osteopenia, Autoimmunity, Osteoporosis, Hepatitis, Uveitis, Polyclonal elevation of IgM, Ulcerati... ORPHA:171
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Fabry Disease
Arthritis, Reduced bone mineral density ORPHA:324
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Stickler Syndrome
Joint dislocation, Protrusio acetabuli, Osteoarthritis, Hip dislocation, Uveitis, Reduced bone mi... ORPHA:828
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... ORPHA:285
Mucopolysaccharidosis Type 2, Severe Form
Arthritis, Flexion contracture, Camptodactyly of finger, Limitation of joint mobility ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Arthritis, Flexion contracture, Camptodactyly of finger, Limitation of joint mobility ORPHA:217093
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Gaisböck Syndrome
Cholecystitis, Gout ORPHA:90041
Classical Ehlers-Danlos Syndrome
Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo... ORPHA:287
Tetrasomy 9P
Joint dislocation, Myositis, Pericarditis, Systemic lupus erythematosus, Arthritis ORPHA:3310
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... ORPHA:740
Chronic Graft Versus Host Disease
Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthritis, Keratoco... ORPHA:99921
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Recurrent skin infections, Camptodactyly of finger, Synovitis, Widely patent fontanel... ORPHA:3455
Noonan Syndrome 1
Cubitus valgus, Synovitis OMIM:163950
Gitelman Syndrome
Tubulointerstitial nephritis, Chondrocalcinosis, Hashimoto thyroiditis, Gout ORPHA:358
Marfan Syndrome
Genu recurvatum, Protrusio acetabuli, Flexion contracture, Premature osteoarthritis, Camptodactyl... OMIM:154700
Loeys-Dietz Syndrome 3
Joint laxity, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, ... OMIM:613795
Mucopolysaccharidosis Type 2
Limitation of joint mobility, Abnormal epiphyseal ossification, Contractures of the large joints,... ORPHA:580
Lacrimoauriculodentodigital Syndrome
Arthritis, Keratoconjunctivitis sicca, Keratoconjunctivitis ORPHA:2363
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Vertebral fusion, Increased circulating IgE level, Camptodactyly of f... ORPHA:373
Acromegaly
Joint swelling, Osteoarthritis, Acne ORPHA:963
Ramon Syndrome
Juvenile rheumatoid arthritis OMIM:266270
Aspartylglucosaminuria
Chronic otitis media, Arthritis, Joint stiffness ORPHA:93
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sagittal craniosynostosis, Hyperextensible hand joints, Secretory IgA deficiency, Metopic synosto... ORPHA:500150
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level OMIM:618278
Somatomammotropinoma
Joint swelling, Osteoarthritis ORPHA:314769
Choreoacanthocytosis
Arthritis ORPHA:2388
Yellow Fever
Increased circulating IgM level, Increased circulating interleukin 6 concentration, Skin rash, Ac... ORPHA:99829
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility... ORPHA:286

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 C1qtnf3

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 C1qtnf3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Deficiency of C1q/TNF-related protein 3 (CTRP3) decreases adipose tissue weight in diet-induced obesity mice. Molecular biology reports (October 2020) C1qtnf3tm1a(KOMP)Wtsi 33057992

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.

MGI Allele Allele Type Produced
C1qtnf3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
C1qtnf3tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
C1qtnf3tm2b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
C1qtnf3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter