Not currently registered for phenotyping at IMPC

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

Gene Summary

platelet/endothelial cell adhesion molecule 1
PECAM-1,  Cd31

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Pecam1 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 Pecam1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Glycoprotein Storage Disease
Gout OMIM:232900
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Synovitis ORPHA:50809
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis OMIM:609655
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Autoimmunity, Nephritis, Arthritis OMIM:216950
Porokeratosis 2, Palmar, Plantar, And Disseminated Type
Palmar telangiectasia, Plantar telangiectasia OMIM:175850
Adult Acute Respiratory Distress Syndrome
Abnormal serum interleukin level, Hypotension, Pneumonia, Abnormality of tumor necrosis factor se... ORPHA:70578
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Pleural effusion, ... ORPHA:330001
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Kienbock Disease
Limitation of joint mobility, Osteochondritis Dissecans, Osteoarthritis, Abnormality of the wrist ORPHA:97332
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Reduced ejection fraction, Arrhythmia, Elevated hepatic transaminase, Increased serum ... ORPHA:542323
Osteochondrosis Of The Tarsal Bone
Chondritis, Abnormal tarsal ossification, Tarsal sclerosis, Tarsal stippling, Osteochondritis Dis... ORPHA:563991
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Hyperextensib... OMIM:105835
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Abnormal serum interleukin level, Synovitis, Reduced bone mineral density, Progre... ORPHA:85435
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Cardiomyopathy, Familial Hypertrophic, 4
Right bundle branch block, Pericardial effusion, Left bundle branch block, Hepatomegaly, Atrioven... OMIM:115197
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Arthritis OMIM:300310
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthritis, Abnormalit... ORPHA:2619
Systemic Capillary Leak Syndrome
Arrhythmia, Pericarditis, Hypotension, Leukocytosis, Pleural effusion, Pedal edema, Oliguria, Pul... ORPHA:188
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Right ventricular failure, Pulmonary capillary hemangiomatosis, Eleva... ORPHA:199241
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Congenital finger flexion contractures, Wrist flexion contracture, Gen... OMIM:208250
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Peripheral edema, Abnormal left ventricular function, Atrial fibrill... ORPHA:75249
Congenital Atransferrinemia
Arthritis ORPHA:1195
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Anemia, Pulmona... OMIM:617300
Mueller-Weiss Syndrome
Chondritis, Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteo... ORPHA:566943
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Hypotension, Pneumonia, Atelectasis, Tachycardia, Cardiac arrest, Pu... ORPHA:70587
Familial Multiple Trichoepithelioma
Telangiectasia of the skin ORPHA:867
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Joint dislocation, Osteoarthritis, Limitation of joint mobilit... ORPHA:1416
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
Osteochondrosis Of The Metatarsal Bone
Chondritis, Progressive joint destruction, Joint stiffness, Sclerosis of foot bone, Osteochondros... ORPHA:564003
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:612649
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema, Atelectasis OMIM:267450
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Eng-Strom Syndrome
Camptodactyly of finger, Arthritis ORPHA:1937
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, Otitis media, Arthritis OMIM:601457
Moyamoya Disease
Telangiectasia ORPHA:2573
Autoimmune Hepatitis
Acute hepatitis, Inflammation of the large intestine, Cirrhosis, Spider hemangioma, Elevated hepa... ORPHA:2137
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Joint stiffness, Heberden's node, Knee osteoarthritis OMIM:604864
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Elevated hepatic transaminase, Decreased mea... ORPHA:244242
Rombo Syndrome
Facial telangiectasia OMIM:180730
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Sinusitis,... OMIM:615504
Peripheral Dysostosis
Joint stiffness, Osteoarthritis ORPHA:1795
Adult-Onset Still Disease
Skin rash, Pleuritis, Elevated hepatic transaminase, Pericarditis, Joint swelling, Leukocytosis, ... ORPHA:829
Uv-Sensitive Syndrome 3
Telangiectasia OMIM:614640
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Elevated hepatic transaminase, Interstitial pneumonitis, Thyro... ORPHA:139402
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Productive cough, Neonatal respiratory d... OMIM:615451
Legionnaires Disease
Hematuria, Pericarditis, Jaundice, Myocarditis, Renal insufficiency, Lymphadenopathy, Endocarditi... ORPHA:549
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Joint dislocation, Joint laxity, Osteoarthritis OMIM:130020
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Increased circulating IgM level, Hemolytic anemia, Decreased circulating IgE, Sclerosi... OMIM:308230
Skin rash, Flexion contracture, Recurrent cutaneous abscess formation, Limitation of joint mobili... ORPHA:231
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infect... OMIM:215520
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Pulmonary edema, Prolonged QTc interval, Syncope, Cardiogenic shock, Decr... ORPHA:66529
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Autoimmune anti... ORPHA:411593
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Oligoarticular Juvenile Idiopathic Arthritis
Joint hypermobility, Abnormal serum interleukin level, Increased serum interferon-gamma level, Au... ORPHA:85410
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Increased circulating antibody level, Myositis, Crohn's... ORPHA:69126
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Lung abscess, Respiratory tract infection, Prostatitis, Cutaneous abscess, Splenic abscess, Acute... ORPHA:31202
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Nasal poly... OMIM:608647
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Congenital Enterovirus Infection
Polyhydramnios, Skin rash, Hydrops fetalis, Hypotension, Leukocytosis, Abnormal macrophage morpho... ORPHA:292
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Finger joint hypermobility, Knee joint hypermobility, Joint stiffness, Limitation of... ORPHA:93308
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Limited knee extension, Delayed epiphysea... OMIM:600969
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Imm... OMIM:614874
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Neutropenia, Pneumonia, Abnormal tracheobronc... ORPHA:1163
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Joint swelling, Hepatic steatosis, Acu... ORPHA:905
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Recurrent pharyngitis, Decrease... OMIM:308240
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Abnormality of the knee, Joint swelling, Joint stiffness, Eczema, Osteoarthritis, Arthritis ORPHA:1525
Autosomal Agammaglobulinemia
Skin rash, Osteomyelitis, Bronchiectasis, Chronic otitis media, Neutropenia, Conjunctivitis, Hepa... ORPHA:33110
Ciliary Dyskinesia, Primary, 26
Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent s... OMIM:615500
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent sinusitis, Sinusitis, Abnormal respirato... OMIM:610852
X-Linked Agammaglobulinemia
Recurrent pneumonia, Skin rash, Abnormal lung morphology, Chronic otitis media, Neutropenia, Thro... ORPHA:47
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Ovarian Hyperstimulation Syndrome
Hypovolemia, Pleural effusion, Peripheral edema, Ascites, Pulmonary edema, Generalized edema, Cap... ORPHA:64739
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Pneumothorax ORPHA:122
Tubular Renal Disease-Cardiomyopathy Syndrome
Abnormal renal resorption, Pericardial effusion, Sudden cardiac death, Hepatic calcification, Hyp... ORPHA:73224
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Ascites, Pulmonary edema, Bradycard... OMIM:261740
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Sinusitis,... OMIM:615505
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Bronchiectasis, Recurrent sinusiti... OMIM:615207
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Pedal edema, Hepatomegaly, Jaun... ORPHA:381
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Arthritis, Knee flexion contracture, Elbow flexion contracture, Acne, Steri... OMIM:604416
Cocaine Intoxication
Ventricular arrhythmia, Hematuria, Acute kidney injury, Cerebral hemorrhage, Pulmonary edema, Hyp... ORPHA:90068
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia OMIM:603284
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Recurrent respiratory infections, Broad nasal tip ORPHA:363523
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Chronic rhinitis, Immotile cilia, Recurrent r... OMIM:618801
Q Fever
Hematuria, Pericarditis, Pericardial effusion, Abnormal left ventricular function, Pneumonia, Mac... ORPHA:781
African Iron Overload
Peritonitis, Micronodular cirrhosis, Viral hepatitis, Hepatic steatosis, Hepatocellular carcinoma... ORPHA:139507
Ethylene Glycol Poisoning
Hematuria, Renal tubular dysfunction, Hypotension, Renal tubular epithelial necrosis, Atrial fibr... ORPHA:31826
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Osteoarthr... ORPHA:2114
Ciliary Dyskinesia, Primary, 7
Restrictive ventilatory defect, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Re... OMIM:611884
Systemic Lupus Erythematosus
Systemic lupus erythematosus, Pericarditis, Lupus nephritis, Malar rash, Antinuclear antibody pos... OMIM:152700
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Arthr... ORPHA:91138
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Arthritis ORPHA:2582
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Microcytic anemia, Cholelithiasis, Hepatomegaly, Thrombocytopenia, Hepatitis, Anemia, Splenomegal... ORPHA:848
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Pericarditis, Malar rash, Antinuclear antibody positivity, Arthritis OMIM:609939
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Synovitis, Glomerulonephritis, Serositis, Arthritis ORPHA:567544
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachycardia, Hep... ORPHA:137675
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respiratory distress, Recurrent... OMIM:608644
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent si... OMIM:617091
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Hydrops fetalis, Abnormal proportion of CD4-positive T cells, Abnormal serum inter... ORPHA:3261
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Thyroiditis, Jaundice, Palmar telangiectasia, Renal insufficiency, C... ORPHA:171
Ciliary Dyskinesia, Primary, 19
Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... OMIM:614935
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Bone marrow h... OMIM:166600
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Immotile sperm, Chronic rhinitis, Chronic sinusitis, Recurren... OMIM:612650
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Joint swelling, Iridocyclitis, Hip osteoarthritis, Flexion contrac... ORPHA:85408
Scorpion Envenomation
Cardiogenic shock, Elevated circulating aspartate aminotransferase concentration, Arrhythmia, Bun... ORPHA:466677
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Avian Influenza
Ground-glass opacification, Myelitis, Elevated hepatic transaminase, Acute kidney injury, Pleural... ORPHA:454836
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Cough, Atelect... OMIM:615067
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyposis, Cough, Respiratory... OMIM:616037
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Familial Spontaneous Pneumothorax
Abnormal pleura morphology, Pneumothorax ORPHA:2903
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Vertical Talus, Congenital
Arthritis OMIM:192950
Ciliary Dyskinesia, Primary, 14
Chronic sinusitis, Abnormal ciliary motility, Reduced sperm motility, Wheezing, Bronchiectasis, C... OMIM:613807
Subcorneal Pustular Dermatosis
Pustule, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Rheuma... ORPHA:48377
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Graft Versus Host Disease
Acute hepatitis, Hemophagocytosis, Gastrointestinal inflammation, Inflammatory abnormality of the... ORPHA:39812
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Viral hepatitis, Panhypogammaglobulinemia, Neutrope... OMIM:209920
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Ciliary dyskinesia, Nasal polyposis, Airway obstruction, Chronic rhinitis, ... OMIM:242680
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Abnormal axonem... OMIM:613808
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Pneumonia, Sinusitis, Shock, Renal insufficiency, Myositis, Myocarditis, ... ORPHA:36234
Mucopolysaccharidosis Type 7
Hydrops fetalis, Lymphedema, Abnormal pleura morphology, Mucopolysacchariduria, Hepatitis, Ascite... ORPHA:584
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune thrombocytopenia, Anticardiolipin IgG antibody positivity, Autoimmunity, Recurrent oti... OMIM:615559
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Nephropathy, Renal tubular acidosis, Jaundic... OMIM:208085
Arthritis, Ectopic ossification in muscle tissue, Joint stiffness, Increased bone mineral density ORPHA:2485
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Gout, Nephritis OMIM:162000
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Osteochondritis Dissecans, Osteoarthritis OMIM:165800
Distal joint laxity, Limited elbow extension, Genu valgum, Irregular carpal bones, Limited hip ex... ORPHA:750
Trichohepatoenteric Syndrome 2
Cirrhosis, Colitis, Hepatomegaly, Hepatitis, Wide nose OMIM:614602
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... OMIM:615444
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Absent respiratory ciliary axoneme radial spokes, Ciliary... OMIM:242670
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Nephropathy, Renal tubular acidosis, Jaundic... OMIM:613404
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Osteoarthritis, Limitation of joint mobility ORPHA:2762
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Hemophilia A
Joint hemorrhage, Osteoarthritis OMIM:306700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Choanal atresia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancre... OMIM:610199
Sydenham Chorea
Endocarditis, Septic arthritis ORPHA:306731
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Chronic ... OMIM:614017
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus, Limitation of joint mobility ORPHA:399180
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Rheumatoid factor positive, Inflammatory abnormality of the skin ORPHA:79099
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Joint laxity, Increased susceptibility to fractures, Congenital bilateral hip dislocation, Premat... OMIM:130060
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Sudden cardiac death,... OMIM:614921
Acute Lung Injury
Abnormality of serum cytokine level, Pneumonia, Acute pancreatitis, Diffuse alveolar hemorrhage, ... ORPHA:178320
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Decreased circulating antibody level, Rheumatoid arth... ORPHA:227990
Congenital Disorder Of Glycosylation, Type Iih
Depressed nasal bridge, Interface hepatitis, Elevated serum transaminases during infections, Elev... OMIM:611182
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Cholelithiasis, Giant cell hepatitis OMIM:214980
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Pulmonary arterial hypertension, Eczema, Renal artery stenosis, Auto... ORPHA:391487
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Increased circulating IgM level, Orthostatic hypotensio... ORPHA:186
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis OMIM:616833
Dysplasia Epiphysealis Hemimelica
Genu valgum, Tarsal synostosis, Recurrent fractures, Joint stiffness, Genu varum, Osteoarthritis ORPHA:1822
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Arthritis, Increased bone mineral density ORPHA:37748
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the knee, Skin rash, Iridocyclitis, Iritis, Autoimmunity, Polyarticular arthritis,... ORPHA:85436
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Decreased circulating antibody level, Septic arthritis, Recurrent pneumonia, Eczema OMIM:617780
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Gastrointestinal Defects And Immunodeficiency Syndrome
Polyhydramnios, Interface hepatitis, Hematochezia, Autoimmune hemolytic anemia, Hypoplasia of the... OMIM:243150
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Abnormality of the epiphyses of the elbow, Genu varum, Abno... ORPHA:166002
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Generalized joint laxity, Hip osteoarthritis, Limited hip movement, Joint stiffness,... OMIM:132400
Felty Syndrome
Osteolysis, Pericarditis, Autoimmunity, Chronic otitis media, Synovitis, Abnormal joint morpholog... ORPHA:47612
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic hepatitis due to cryptosporidium infection, T lymphocytopenia, Abnormal CD4:CD8 ratio, Sk... ORPHA:572
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Autoimmune thrombocytopenia, Decreased circulating antibody level, Rheumatoid arth... ORPHA:227982
Porphyria Cutanea Tarda
Cutaneous abscess, Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, ... ORPHA:101330
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropenia, Pneumonia, Myositis, E... ORPHA:37042
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Autoimmunity, Hashimoto thyroiditis, Juvenile rheumatoid art... ORPHA:275
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Pyoderma, Pneumonia, Septic arthritis, Enterovi... OMIM:300755
Genu valgum, Enlarged joints, Generalized joint laxity, Joint dislocation, Osteoarthritis ORPHA:85198
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Enthesitis, Psoriasiform dermatitis, Ant... OMIM:106300
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Arrhythmia, Persistence of hemoglobin F, Decreased mean... ORPHA:231226
Kawasaki Disease
Skin rash, Arrhythmia, Recurrent pharyngitis, Pericarditis, Proteinuria, Leukocytosis, Cholecysti... ORPHA:2331
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Intracranial hemorrhage, Vasculitis in the skin, Generalized lymphadenopathy, Pul... ORPHA:3260
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Acute hepatic failure, Choanal atresia, Neutropenia in presence of anti-n... ORPHA:228426
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Antinuclear antibody positivity, Arthritis OMIM:616414
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Interlobular bile duct destruction, Increased cir... ORPHA:562639
Farber Lipogranulomatosis
Joint swelling, Arthritis OMIM:228000
Isolated Agammaglobulinemia
Skin rash, Autoimmunity, Pneumonia, Inflammatory abnormality of the eye, Recurrent cutaneous absc... ORPHA:229717
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Choanal atresia, Hashimoto thyroiditis, Hepatomegaly, Pancytopenia, Hepatitis, Decreased circulat... OMIM:613385
Skin rash, Pericarditis, Acute kidney injury, Subconjunctival hemorrhage, Cellular urinary casts,... ORPHA:509
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Delayed tarsal ossification, Premature osteoarthritis, Delayed ossification of carpa... OMIM:607078
Widow'S Peak Syndrome
Hip osteoarthritis, Recurrent patellar dislocation, Arthralgia/arthritis OMIM:314570
Congenital Isolated Acth Deficiency
Hypotension, Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level, Pulmonary edema, Encephali... ORPHA:79139
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Ciliary dyskinesia, Cough, Chronic rhinitis, Chronic sinusitis, Abnormal respirat... OMIM:614679
Fanconi Renotubular Syndrome 5
Emphysema, Decreased DLCO, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Diverticulosis, Small-Intestinal
Thyroiditis, Rheumatoid arthritis, Ulcerative colitis OMIM:223320
Wilson Disease
Cirrhosis, Hemolytic anemia, Hyperphosphaturia, Hepatocellular carcinoma, Aminoaciduria, Glycosur... OMIM:277900
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Chronic hepatitis, Hepatiti... OMIM:269200
Juvenile Idiopathic Arthritis
Skin rash, Abnormal sacroiliac joint morphology, Joint swelling, Autoimmunity, Uveitis, Abnormal ... ORPHA:92
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Misalignment of the p... OMIM:265120
Hemophilia B
Joint hemorrhage, Osteoarthritis OMIM:306900
Albers-Schönberg Osteopetrosis
Genu valgum, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Joint dis... ORPHA:53
Myasthenia Gravis
Pure red cell aplasia, Hemolytic anemia, Rheumatoid arthritis, Hashimoto thyroiditis, Glycosuria,... ORPHA:589
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis ORPHA:1345
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Myocarditis, Increased B ce... ORPHA:2442
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Enlarged interphalangeal joints, Joint swelling, Joint sti... OMIM:208230
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Conjunctivitis, Uveitis, Arthritis OMIM:120100
Skin rash, Hematuria, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pneumonia, Hypert... ORPHA:1855
Spondyloepiphyseal Dysplasia, Nishimura Type
Osteoarthritis, Delayed epiphyseal ossification OMIM:618618
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Hip subluxation, Protrusio acetabuli, Hip osteoarthritis, Limited hip mo... ORPHA:99642
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Recurrent aphthous stomatitis, Erythema nodosum, Arthritis OMIM:611762
Joint hyperflexibility, Abnormality of the elbow, Osteoarthritis, Genu varum ORPHA:429
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Joint dislocation, Osteoarthritis ORPHA:166024
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Hepatic steat... ORPHA:567983
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chronic hepatit... ORPHA:289390
Peritonitis, Pericarditis, Neutropenia, Melena, Sinusitis, Periorbital edema, Myocarditis, Renal ... ORPHA:73263
Lesch-Nyhan Syndrome
Gout ORPHA:510
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Renal insufficiency, Cholestasis, Hepatitis, Cholestatic liver dis... ORPHA:440713
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Neutropenia, Maculopapular exanthema, Abnormality of tumor necrosis factor secretion, ... ORPHA:540
Truncus Arteriosus
Aortic regurgitation, Abnormal heart valve physiology, Anomalous origin of one pulmonary artery f... ORPHA:3384
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Increased circulating antibody level, Rheumatoid ar... ORPHA:48104
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Hematuria, Pericarditis, Scleritis, Large vessel vasculitis, Uve... ORPHA:728
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Colitis, Eczema, Decreased circulating Ig... OMIM:608809
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Abnormal sacroiliac joint morphology, Osteolysis,... ORPHA:793
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Panhypogammaglobulinemia, Pneumonia, Septic ar... OMIM:307200
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemo... OMIM:614700
Rheumatoid Arthritis
Joint swelling, Rheumatoid arthritis, Anti-citrullinated protein antibody positivity, Rheumatoid ... OMIM:180300
Secondary Intestinal Lymphangiectasia
Autoimmunity, Decreased circulating antibody level, Recurrent skin infections, Arthritis ORPHA:90363
Hemophilia A With Vascular Abnormality
Joint hemorrhage, Osteoarthritis OMIM:306800
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Abnormal sacroiliac joint morphology, Osteolysis,... ORPHA:324964
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Synostosis of carpal bones, Abnormal joint morphology, Abnormality of ... ORPHA:93351
Pfapa Syndrome
Encephalitis, Arthritis ORPHA:42642
Alstrom Syndrome
Elevated hepatic transaminase, Chronic active hepatitis, Hepatic steatosis, Hypertension, Otitis ... OMIM:203800
Multiple Epiphyseal Dysplasia Type 5
Genu valgum, Intervertebral disc degeneration, Abnormal hip joint morphology, Decreased hip abduc... ORPHA:93311
Blau Syndrome
Camptodactyly of finger, Pericarditis, Joint swelling, Iritis, Flexion contracture of toe, Uveiti... OMIM:186580
Vexas Syndrome
Chondritis of pinna, Arteritis, Neutrophilic infiltration of the skin, Nasal chondritis, Arthriti... OMIM:301054
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Bronchiectasis, Recurrent pneumonia OMIM:242700
Chronic Mucocutaneous Candidiasis
Skin rash, Hematuria, Cheilitis, Hepatitis, Hemoptysis, Recurrent respiratory infections ORPHA:1334
Ulnar Hemimelia
Limited elbow extension, Dislocated radial head, Humeroradial synostosis, Congenital finger flexi... ORPHA:93320
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Joint swelling, Pericarditis, Autoimmunity, Juvenile rheumatoid arthritis, Anterior uv... ORPHA:85414
Eosinophilic Fasciitis
Myositis, Arthritis, Fasciitis ORPHA:3165
Yao Syndrome
Skin rash, Inflammatory abnormality of the skin, Pericarditis, Keratoconjunctivitis sicca, Arthritis OMIM:617321
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Arthritis ORPHA:375
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Genu valgum, Osteoarthritis, Capitate-hamate fusion OMIM:271650
Autosomal Dominant Cutis Laxa
Emphysema ORPHA:90348
Familial Cold Urticaria
Conjunctivitis, Arthritis ORPHA:47045
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Decreased liver function, Acute hepatitis OMIM:238970
Lichen Planopilaris
Hepatitis ORPHA:525
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Skin rash, Pericarditis, Thyroiditis, Decreased circulating antibody level, Keratoconjunctivitis ... ORPHA:99867
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Abnormal hip joint morphology, Joint stiffness, Double-layered patella, Limitation o... ORPHA:166011
Emphysema, Respiratory insufficiency ORPHA:436
Wild Type Abeta2M Amyloidosis
Arthropathy, Arthritis ORPHA:85446
Cinca Syndrome
Skin rash, Patellar overgrowth, Uveitis, Arthritis OMIM:607115
Zika Virus Disease
Skin rash, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Conjunctivitis, An... ORPHA:448237
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Panniculitis, Flexion contracture, Conjunctiviti... OMIM:617591
Majeed Syndrome
Pustule, Flexion contracture, Synovitis, Increased bone mineral density, Abnormal inflammatory re... ORPHA:77297
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Iridocyclitis, Chronic oral candidiasis, Chronic active hepatitis, Chronic atrophic gastritis, Ch... OMIM:240300
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Shoulder dislocation, Knee dislocation, Hip dislocation, Osteoarthritis OMIM:618000
Hemochromatosis, Type 3
Arthritis OMIM:604250
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Hip osteoarthritis, Abnormality of the elbow, Enthesitis, Sacroili... ORPHA:85438
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema... ORPHA:31205
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Increased circulating IgA level, Recurrent aphthous stomatitis, Limitation of joint ... ORPHA:343
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Dermatoosteolysis, Kirghizian Type
Osteolysis, Tarsal synostosis, Keratitis, Abnormality of the wrist, Osteoarthritis ORPHA:1657
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Glomerulonephritis, Sinusitis, Recur... OMIM:610984
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Maculopapular exanthema, Conjunctivitis, Erysipelas, Oligoarthritis, Polyarticular art... OMIM:142680
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteoporosis, Wormian bones, Seborrheic dermatitis, Eczematoid dermatitis, Osteolytic defects of ... OMIM:259100
Severe Hemophilia A
Joint hemorrhage, Joint swelling, Synovitis, Progressive joint destruction, Limitation of joint m... ORPHA:169802
Gaucher Disease
Cirrhosis, Hydrops fetalis, Hematuria, Pulmonary fibrosis, Increased circulating antibody level, ... ORPHA:355
Lyme Disease
Uveitis, Joint swelling, Encephalitis, Arthritis ORPHA:91546
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis ORPHA:90653
Combined Immunodeficiency-Enteropathy Spectrum
Polyhydramnios, Peritoneal abscess, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Hypoplasi... ORPHA:436252
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Psoriasis 14, Pustular
Pustule, Cholangitis, Oligoarthritis, Polyarticular arthritis, Psoriasiform dermatitis OMIM:614204
Muckle-Wells Syndrome
Skin rash, Camptodactyly of finger, Uveitis, Conjunctivitis, Episcleritis, Recurrent aphthous sto... ORPHA:575
Synostosis of joints, Chronic otitis media, Arthritis ORPHA:61
Moderate Hemophilia A
Joint hemorrhage, Joint swelling, Synovitis, Hip contracture, Limitation of joint mobility, Arthr... ORPHA:169805
Nail-Patella Syndrome
Abnormality of the elbow, Antecubital pterygium, Elbow flexion contracture, Osteochondritis Disse... ORPHA:2614
Pediatric Systemic Lupus Erythematosus
Skin rash, Systemic lupus erythematosus, Antineutrophil antibody positivity, Discoid lupus rash, ... ORPHA:93552
Catastrophic Antiphospholipid Syndrome
Systemic lupus erythematosus, Anticardiolipin IgG antibody positivity, Abnormality of serum cytok... ORPHA:464343
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Sclerotic cranial sutures, Osteolysis involving bones of the upper limb... ORPHA:371428
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Arthritis OMIM:184100
Mccune-Albright Syndrome
Renal phosphate wasting, Hyperphosphaturia, Hepatocellular adenoma, Cholestasis, Pancytopenia, He... ORPHA:562
Sweet Syndrome
Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Panniculitis, Abn... ORPHA:3243
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Joint swelling, Osteoarthritis of the distal inte... ORPHA:93284
Hypocomplementemic Urticarial Vasculitis
Skin rash, Autoimmunity, Uveitis, Conjunctivitis, Episcleritis, Joint dislocation, Inflammatory a... ORPHA:36412
Arthralgia/arthritis, Pericarditis, Endocarditis, Pneumonia, Septic arthritis, Sinusitis, Osteomy... ORPHA:449280
Mixed Connective Tissue Disease
Skin rash, Osteolysis, Pericarditis, Joint swelling, Autoimmunity, Keratoconjunctivitis sicca, Jo... ORPHA:809
Acute Liver Failure
Skin rash, Hepatocellular necrosis, Gastrointestinal hemorrhage, Elevated hepatic transaminase, I... ORPHA:90062
Microscopic Polyangiitis
Peritonitis, Skin rash, Pericarditis, Increased inflammatory response, Autoimmunity, Uveitis, Epi... ORPHA:727
Limited elbow extension, Genu valgum, Irregular carpal bones, Limited hip extension, Joint laxity... OMIM:177170
Behcet Syndrome
Epididymitis, Iridocyclitis, Iritis, Erythema nodosum, Arthritis OMIM:109650
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Takayasu Arteritis
Arthritis, Inflammatory abnormality of the eye, Increased inflammatory response ORPHA:3287
Laron Syndrome
Abnormality of the elbow, Osteoarthritis ORPHA:633
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension, Hashimoto thyroiditis, Normocytic anemia, Hepatitis, Eosino... ORPHA:199299
Intervertebral disc degeneration, Limited hip movement, Limitation of knee mobility, Limited shou... OMIM:203500
Roifman-Chitayat Syndrome
Osteopenia, Pneumonia, Arthritis OMIM:613328
Desbuquois Dysplasia 1
Osteoporosis, Joint laxity, Advanced tarsal ossification, Radioulnar dislocation, Phalangeal disl... OMIM:251450
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu valgum, Multiple joint dislocation, Hip subluxation, Joint laxity, Generalized joint laxity,... ORPHA:93360
Glycogen Storage Disease Vii
Gout OMIM:232800
Adiposis Dolorosa
Autoimmunity, Recurrent skin infections, Arthritis ORPHA:36397
Multiple Osteochondromas
Genu valgum, Osteolysis, Elbow dislocation, Synostosis of joints, Madelung deformity, Recurrent f... ORPHA:321
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure... ORPHA:415
Myelitis, Pericarditis, Autoimmunity, Flexion contracture, Uveitis, Anti-centromere antibody posi... ORPHA:801
Gamma-Heavy Chain Disease
Skin rash, Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rh... ORPHA:100026
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Rheumatic Fever
Endocarditis, Pericarditis, Sinusitis, Myocarditis, Arthritis ORPHA:3099
Acute Disseminated Encephalomyelitis
Viral hepatitis, Cerebral edema, Myelitis, Optic neuritis ORPHA:83597
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Joint swelling, Enthesitis, Conjuncti... ORPHA:29207
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Bronchiectasis, Emphysema, Posterior pharyn... ORPHA:1572
Reynolds Syndrome
Skin rash, Keratoconjunctivitis sicca, Encephalitis, Arthritis ORPHA:779
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Arthritis ORPHA:411543
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Infection-Related Hemolytic Uremic Syndrome
Pleuritis, Acute kidney injury, Pneumonia, Myocarditis, Decreased urine output, Anuria, Hypertens... ORPHA:544482
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Lymphadenitis, Increased circulating IgD level, Increased ci... OMIM:260920
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Recurrent respiratory infections OMIM:219100
Medullary cystic kidney disease 2
Gout, Tubulointerstitial nephritis OMIM:603860
Ehlers-Danlos Syndrome, Classic Type, 1
Joint hypermobility, Hyperextensibility of the knee, Recurrent sinusitis, Hyperextensibility at e... OMIM:130000
Skin rash, Osteolysis, Joint swelling, Ankle joint effusion, Maculopapular exanthema, Stiff inter... ORPHA:324625
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Endocarditis, Increased inflammatory response, Autoimmunity, Sinusitis, Tubulointersti... ORPHA:183
Osteoporosis, Seborrheic dermatitis, Osteolysis, Joint swelling, Eczematoid dermatitis, Limitatio... ORPHA:2796
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Pulmonary hypoplasia, Pulmonary art... OMIM:613177
Diffuse Cutaneous Systemic Sclerosis
Autoimmunity, Osteolysis, Flexion contracture, Arthritis ORPHA:220393
Netherton Syndrome
Emphysema, Asthma, Recurrent respiratory infections ORPHA:634
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Joint swelling, Stiff interphalangeal joints, Joint stiffness, Arthropathy, Arthritis ORPHA:465508
Peritonitis, Bronchiectasis, Panniculitis, Maculopapular exanthema, Pneumonia, Keratitis, Fasciit... ORPHA:228119
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Atelectasis, Chylothorax, Hemoptysis, ... ORPHA:538
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Chronic oral candidiasis, Decreased specific antibody response to vaccination, Decreased circulat... ORPHA:221139
Riddle Syndrome
Chronic sinusitis, Recurrent sinusitis, Pneumonia, Decreased circulating IgA level, Recurrent pne... ORPHA:420741
Epididymitis, Increased circulating IgM level, Endocarditis, Pericarditis, Arteritis, Hip osteoar... ORPHA:1304
Meier-Gorlin Syndrome 6
Short nose, Underdeveloped nasal alae, Emphysema, Laryngomalacia, Tracheobronchomalacia, Simplifi... OMIM:616835
Prostatitis, Joint swelling, Reduced bone mineral density, Joint stiffness, Joint dislocation, Os... ORPHA:56
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, Anemia, Pulmonary a... OMIM:600376
Hereditary Xanthinuria
Gout, Rheumatoid arthritis, Arthropathy ORPHA:3467
Sitosterolemia 1
Impaired platelet aggregation, Arthritis OMIM:210250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Osteoarthritis, Genu varum OMIM:602111
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Abnormal joint morphology, Abnormally ossified vertebrae, Osteoarthritis, Limita... ORPHA:1427
Localized Scleroderma
Esophagitis, Sclerosis of finger phalanx, Autoimmunity, Flexion contracture, Uveitis, Hashimoto t... ORPHA:90289
Autoimmunity, Chondrocalcinosis, Pericarditis, Arthritis ORPHA:732
Gaucher Disease Type 1
Osteolysis, Increased circulating antibody level, Increased bone mineral density, Pathologic frac... ORPHA:77259
Whipple Disease
Pericarditis, Uveitis, Encephalitis, Myocarditis, Myositis, Arthritis ORPHA:3452
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Decreased circulating antibody level, Recurrent otitis media, Panniculitis, Recurrent ... OMIM:615688
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Abnormal sacroiliac joint morphology, Pericarditis, Uveitis, Orchitis, Co... ORPHA:32960
Spondyloenchondrodysplasia With Immune Dysregulation
Systemic lupus erythematosus, Joint swelling, Autoimmune thrombocytopenia, Autoimmunity, Rheumato... OMIM:607944
Sarcoidosis, Susceptibility To, 1
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:181000
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Osteomalacia OMIM:307800
Systemic Sclerosis
Pericarditis, Joint swelling, Anti-topoisomerase I antibody positivity, Flexion contracture, Anti... ORPHA:90291
Multiple Epiphyseal Dysplasia Type 4
Genu valgum, Delayed femoral head ossification, Flexion contracture, Contracture of the proximal ... ORPHA:93307
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, Anemia, High-output... OMIM:187300
Farber Disease
Osteoporosis, Abnormality of the knee, Joint swelling, Abnormality of the elbow, Flexion contract... ORPHA:333
Occipital Horn Syndrome
Esophagitis, Bladder diverticulum, Cholestasis, Jaundice, Hepatitis ORPHA:198
X-Linked Hypophosphatemia
Genu valgum, Craniosynostosis, Sacroiliac joint synovitis, Rickets, Generalized osteosclerosis, E... ORPHA:89936
Peritonitis, Skin rash, Folliculitis, Osteolysis, Increased circulating IgM level, Pericarditis, ... ORPHA:228123
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Flexion contracture, Premature osteoarthritis, Recurrent pneumonia OMIM:215150
Stickler Syndrome, Type I
Osteoarthritis, Arthropathy OMIM:108300
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Epistaxis... OMIM:175050
Insulin-Resistance Syndrome Type B
Skin rash, Systemic lupus erythematosus, Autoimmunity, Pneumonia, Increased circulating IgG level... ORPHA:2298
Peritonitis, Acute colitis, Uveitis, Pneumonia, Ulcerative colitis, Conjunctivitis, Myocarditis, ... ORPHA:810
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Systemic lupus erythematosus, Antineutrophil antibod... ORPHA:49041
Abnormal sputum, Pleuritis, Respiratory distress, Dyspnea, Pleural effusion, Emphysema, Nonproduc... ORPHA:31204
Juvenile Dermatomyositis
Skin rash, Pericarditis, Autoimmunity, Myositis, Limitation of joint mobility, Arthritis ORPHA:93672
Keutel Syndrome
Recurrent bronchitis, Emphysema, Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasi... OMIM:245150
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Familial Mediterranean Fever
Peritonitis, Skin rash, Pericarditis, Orchitis, Erysipelas, Pancreatitis, Osteoarthritis, Arthritis ORPHA:342
Alström Syndrome
Abnormal liver physiology, Chronic kidney disease, Pulmonary arterial hypertension, Abnormal coro... ORPHA:64
Blau Syndrome
Skin rash, Camptodactyly of finger, Iridocyclitis, Pericarditis, Joint swelling, Retrobulbar opti... ORPHA:90340
Giant Cell Arteritis
Joint stiffness, Pericarditis, Arthritis ORPHA:397
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand OMIM:190350
Familial Mediterranean Fever
Peritonitis, Pericarditis, Orchitis, Erysipelas, Crohn's disease, Arthritis OMIM:249100
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Delayed epiphyseal ossification, Joint laxity, Premature osteo... ORPHA:93352
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Rheumatoid arthritis, Granulomatous coronary arteritis, Iritis OMIM:108050
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Peripheral pulmonary artery stenosis, Respiratory insufficiency, Recurrent pneumonia, ... ORPHA:90349
Peritonitis, Pustule, Endocarditis, Pericarditis, Pyelonephritis, Arteritis, Cholecystitis, Pneum... ORPHA:533
Immunoglobulin A Vasculitis
Skin rash, Pustule, Orchitis, Episcleritis, Encephalitis, Arthritis ORPHA:761
Congenital Tufting Enteropathy
Punctate keratitis, Arthritis ORPHA:92050
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormal platelet function, Autoimmunity, Chronic otitis med... ORPHA:906
Behçet Disease
Endocarditis, Pericarditis, Increased inflammatory response, Retrobulbar optic neuritis, Orchitis... ORPHA:117
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Recurrent pneumonia, Emphysema, Wide nasal bridge, Recurrent bronchopulmonary infections OMIM:219721
Hereditary Spherocytosis
Gout, Maculopapular exanthema ORPHA:822
Ehlers-Danlos Syndrome, Vascular Type
Spontaneous pneumothorax, Emphysema, Pulmonary bulla, Hemothorax, Nodular pattern on pulmonary HR... OMIM:130050
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Arthritis OMIM:161700
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the pulmonary artery, Emphysema ORPHA:363618
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Cough, Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Tachypnea OMIM:613658
Marshall Syndrome
Genu valgum, Osteoarthritis ORPHA:560
Aicardi-Goutières Syndrome
Increased serum interferon-gamma level, Autoimmunity, Panniculitis, Chilblains, Multiple joint co... ORPHA:51
Glycogen Storage Disease Ia
Osteoporosis, Gout, Pancreatitis OMIM:232200
Gout, Acute pancreatitis ORPHA:412
Kid Syndrome
Recurrent bacterial skin infections, Osteolysis, Keratitis, Arthritis ORPHA:477
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Gout, Tubulointerstitial nephritis OMIM:174000
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Rheumatoid arthritis ORPHA:98808
Cutis Laxa, Autosomal Recessive, Type Ib
Bulbous nose, Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation, Depressed nasal ... OMIM:614437
Glycogen Storage Disease Ib
Osteoporosis, Gout, Pancreatitis OMIM:232220
Juvenile Polyposis Syndrome
Anasarca, Gastrointestinal hemorrhage, Hematochezia, Spontaneous, recurrent epistaxis, Hepatic ar... ORPHA:2929
Loeys-Dietz Syndrome 5
Joint hypermobility, Congenital finger flexion contractures, Flexion contracture of toe, Osteoart... OMIM:615582
Neonatal Marfan Syndrome
Neonatal respiratory distress, Emphysema, Hypoxemia, Wide nasal bridge ORPHA:284979
Inflammation of the large intestine, Skin rash, Chapped lip, Endocarditis, Lymphadenitis, Abnorma... ORPHA:707
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteoporosis, Inflammation of the large intestine, Thyroiditis, Periodontitis, Ulcerative colitis... ORPHA:79259
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Joint swelling, Joint hyperflexibility, Periodontitis, Chronic otitis media, Recurre... ORPHA:534
Pericarditis, Chondrocalcinosis, Autoimmunity, Myocarditis, Arthritis ORPHA:221
22Q11.2 Deletion Syndrome
Seborrheic dermatitis, Autoimmunity, Joint hyperflexibility, Chronic otitis media, Impaired T cel... ORPHA:567
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hyperflexibility, Arthritis ORPHA:93111
Osteogenesis Imperfecta
Osteoporosis, Joint hypermobility, Wormian bones, Genu valgum, Protrusio acetabuli, Dislocated ra... ORPHA:666
Hunter-Macdonald Syndrome
Cubitus valgus, Camptodactyly, Delayed cranial suture closure, Joint contracture of the hand, Pre... OMIM:611962
Abnormal lung morphology, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Abnormal pleura morphology... ORPHA:797
Stickler Syndrome
Genu valgum, Protrusio acetabuli, Joint hyperflexibility, Chronic otitis media, Uveitis, Reduced ... ORPHA:828
Hereditary Sensory And Autonomic Neuropathy Type 4
Osteomyelitis, Painless fractures due to injury, Septic arthritis, Neuropathic arthropathy, Fasci... ORPHA:642
Aneurysm-Osteoarthritis Syndrome
Osteoporosis, Camptodactyly of finger, Intervertebral disc degeneration, Protrusio acetabuli, Joi... ORPHA:284984
Hypermobile Ehlers-Danlos Syndrome
Wormian bones, Osteolysis, Elbow dislocation, Joint hyperflexibility, Keratoconjunctivitis sicca,... ORPHA:285
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arthritis ORPHA:217085
Glycogen Storage Disease Ic
Gout, Chronic pancreatitis OMIM:232240
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arthritis ORPHA:217093
Marfan Syndrome
Spontaneous pneumothorax, Emphysema, Pulmonary artery dilatation, Hemoptysis ORPHA:558
Fabry Disease
Chronic pulmonary obstruction, Emphysema, Dyspnea, Respiratory insufficiency ORPHA:324
Classical Ehlers-Danlos Syndrome
Dislocated radial head, Joint swelling, Generalized joint laxity, Phalangeal dislocation, Shoulde... ORPHA:287
Hutchinson-Gilford Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Limited wrist movement, Limitation of mov... ORPHA:740
Chronic Graft Versus Host Disease
Bronchiectasis, Urinary bladder inflammation, Flexion contracture, Keratoconjunctivitis sicca, Fa... ORPHA:99921
Marfan Syndrome
Joint hypermobility, Limited elbow extension, Protrusio acetabuli, Genu recurvatum, Camptodactyly... OMIM:154700
Gitelman Syndrome
Gout, Tubulointerstitial nephritis, Hashimoto thyroiditis, Chondrocalcinosis ORPHA:358
Noonan Syndrome 1
Cubitus valgus, Synovitis OMIM:163950
Tetrasomy 9P
Systemic lupus erythematosus, Pericarditis, Joint dislocation, Myositis, Arthritis ORPHA:3310
Wiedemann-Rautenstrauch Syndrome
Joint hypermobility, Camptodactyly of finger, Recurrent otitis media, Synovitis, Widely patent fo... ORPHA:3455
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Flexion contracture of digit, Abnormal epiphyseal ossification, Contractures ... ORPHA:580
Osteoarthritis, Joint swelling, Acne ORPHA:963
Loeys-Dietz Syndrome 3
Intervertebral disc degeneration, Craniosynostosis, Protrusio acetabuli, Joint laxity, Hip osteoa... OMIM:613795
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis sicca, Keratoconjunctivitis, Arthritis ORPHA:2363
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Short nose, Emphysema, Wide nasal bridge, Polymicrogyria, Respiratory f... ORPHA:500150
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920
Osteoarthritis, Joint swelling ORPHA:314769
Chronic otitis media, Joint stiffness, Arthritis ORPHA:93
Ramon Syndrome
Juvenile rheumatoid arthritis OMIM:266270
Arthritis ORPHA:2388
Vascular Ehlers-Danlos Syndrome
Osteolysis, Congenital hip dislocation, Joint hyperflexibility, Periodontitis, Joint dislocation,... ORPHA:286


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 Pecam1

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 Pecam1.

No publications found that use IMPC mice or data for Pecam1.

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MGI Allele Allele Type Produced
Pecam1tm235501(L1L2_Bact_P) Targeting vectors
Pecam1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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