banner
Genes Phenotypes Help, News, Blog

Gene: Tns3 MGI:2443012

Log in to follow

Gene Summary

Name:
tensin 3
Synonyms:
Tens1,  F830010I22Rik,  TEM6

Order Alleles

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
abnormal head morphology Tns3em1(IMPC)Bay HET Early adult 4.16×10-05
decreased cardiac muscle contractility Tns3em1(IMPC)Bay HET Late adult 1.27×10-05
preweaning lethality, incomplete penetrance Tns3em1(IMPC)Bay HOM   Early adult 0.00
increased fasting circulating glucose level Tns3em1(IMPC)Bay HET Late adult 2.80×10-05
increased bone mineral content Tns3em1(IMPC)Bay HET Late adult 3.61×10-05
increased bone mineral density Tns3em1(IMPC)Bay HET Late adult 6.21×10-05

Download data as:  TSV  XLS

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

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.

X-ray

XRay Images Skull Lateral Orientation

24 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

13 Images

View images
X-ray

XRay Images Forepaw

13 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

24 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

24 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

13 Images

View images
X-ray

XRay Images Forepaw

24 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

24 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

View images
X-ray

XRay Images Skull Lateral Orientation

13 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

2 Images

View images
Electrocardiogram (ECG)

Waveform Image

2 Images

View images

Human diseases caused by Tns3 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 Tns3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Diabetes mellitus, Ectopic ossification OMIM:602475
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Melorheostosis With Osteopoikilosis
Hypertension, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Diarrhea 12, With Microvillus Atrophy
Osteopenia, Microvillar PAS-positive secretory granules, Respiratory tract infection, Bronchiecta... OMIM:619445
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis, Failure to thrive, Crypt hyperplasia, Small for gestational age, Villous atrophy OMIM:613217
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Abnormal intestine morphology, Villous atrophy OMIM:251850
Diarrhea 9
Failure to thrive, Villous atrophy OMIM:618168
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Short stature, Enterocolitis, Failure to thrive, Thrombocytopenia, Splenome... OMIM:616050
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Protein-losing enteropathy, Villous atrophy OMIM:615863
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Oligoarthritis, Failure to thrive in infancy, Growth delay, Decre... OMIM:619510
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... OMIM:136300
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Pancytopenia, Inflammation of the large i... OMIM:614700
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses OMIM:166740
Sclerosteosis
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Immunodeficiency 31C
Osteopenia, Autoimmune hemolytic anemia, Delayed puberty, Protein-losing enteropathy, Impaired ly... OMIM:614162
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J... ORPHA:2485
Mueller-Weiss Syndrome
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... ORPHA:566943
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Cholestasis, Growth delay, Ente... ORPHA:95427
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Functional abnormality of the gastroint... ORPHA:90362
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Panacinar emphysema, Hepatocellular carcinoma, Splenomegaly, Bronchiect... OMIM:613490
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Colitis, Chronic hepatitis, Failure to thrive, Intrauterine growth retar... OMIM:614602
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level OMIM:223100
Congenital Disorder Of Glycosylation, Type Id
Clinodactyly of the 5th toe, Joint contracture of the hand, High palate, Failure to thrive, Long ... OMIM:601110
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Reduced bone mineral density, Portal fibrosis, Anemia, Microve... OMIM:619377
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Iron deficiency anemia, Macrocytic anemia, Jejunit... ORPHA:398063
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... ORPHA:92050
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology ORPHA:103907
Feingold Syndrome 2
Postnatal growth retardation, Intestinal atresia, 2-3 toe syndactyly, Short middle phalanx of the... OMIM:614326
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... OMIM:166600
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Lymphangiectasis, Cirrhosis, Hepatomegaly, Failure to th... OMIM:602579
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Intermediate Osteopetrosis
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Generalized osteosc... ORPHA:210110
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Neutropenia, Recurrent lower respiratory tract infections, Cholangitis, Viral he... OMIM:209920
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Hep... OMIM:304790
Chylomicron Retention Disease
Growth delay, Failure to thrive, Steatorrhea, Accumulation of lipid droplets in small-bowel enter... OMIM:246700
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pulmonary interstitial lymphocyte infiltration, B l... OMIM:606367
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... OMIM:144750
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Netherton Syndrome
Intestinal atresia, Failure to thrive, Recurrent infection of the gastrointestinal tract, Hypereo... OMIM:256500
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, S... OMIM:618728
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture OMIM:620366
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Failure to thrive, Villous atrophy OMIM:614328
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Failure to thrive, Splenomegaly, Hip dislocation, Villous atrophy OMIM:608776
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Hypophosphatasia
Abnormal metaphysis morphology, Emphysema, Anemia, Bowing of the long bones, Short stature, Failu... ORPHA:436
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Delayed puberty, B lymphocytopenia, Neutropenia in prese... ORPHA:391487
Schnitzler Syndrome
Increased bone mineral density, Arthritis, Vasculitis ORPHA:37748
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Lissencephaly, Recurrent respiratory infections, Atelectasis OMIM:619466
Bronchogenic Cyst
Bronchogenic cyst, Abnormal stomach morphology, Atelectasis, Abnormal peritoneum morphology, Abno... ORPHA:2357
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Tracheobronchomalacia, Pulmonary sequestration, Abnormal lung morphology,... ORPHA:70589
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Decreased skull ossification, Ankyloglossia, Asplenia, Shor... OMIM:602361
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Growth delay, Splenomegaly, Abnormal small intestine morph... ORPHA:100025
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Bronchitis, Crohn's disease, T lymphocytopenia, Splenomegaly, Reduced natural kil... OMIM:619381
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Microlissencephaly, Abnormality of neuronal migration, Hypoplastic spleen, 4-... ORPHA:89844
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Cl... ORPHA:60033
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Gastritis, Colitis, Hypoplasia of the thymus, Intrauterine growth retard... ORPHA:84064
Proprotein Convertase 1/3 Deficiency
Obesity, Villous atrophy OMIM:600955
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Reduced bone mineral density, Hepatomegaly, Joint stiffness, Short ... OMIM:620210
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Intrauterine growth retardation, Decreased CD4:CD8 ratio, Hepatic steat... OMIM:619573
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Clubbing, Portal hypertension... OMIM:620367
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Mediastinal ly... OMIM:612387
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotation, Apla... ORPHA:2538
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Clubbing, Respiratory tract infection, W... ORPHA:79127
Microvillus Inclusion Disease
Abnormal small intestinal villus morphology, Villous atrophy ORPHA:2290
Recurrent Respiratory Papillomatosis
Atelectasis, Tracheomalacia, Abnormal lung morphology, Failure to thrive, Recurrent pneumonia, Dy... ORPHA:60032
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Calcification of cartilage, Pneumonia,... ORPHA:3348
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Thrombocytosis, Cholestasis, Intrauterine growth retardation, ... OMIM:222470
Mirage Syndrome
Rocker bottom foot, Radial club hand, Anemia, Gastroesophageal reflux, Decreased body weight, Asp... OMIM:617053
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Clubbing, Asplenia, Intestinal malrotation, Respiratory tr... ORPHA:244
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Alg9-Cdg
Abnormal lung lobation, Narrow greater sciatic notch, Abnormal bone ossification, Hepatomegaly, R... ORPHA:79328
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Steatorrhea, Hepatomegaly, Failure to thrive, Flexion contracture, Hepatic fibrosis, ... OMIM:212065
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Flexion contracture, Congenital pyloric atresia OMIM:612138
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level OMIM:223000
Cutis Laxa-Marfanoid Syndrome
Emphysema, Limitation of joint mobility, Arachnodactyly, Flexion contracture, Hip dislocation ORPHA:171719
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Patholog... OMIM:259700
Castleman Disease
Intestinal obstruction, Abnormality of the gastrointestinal tract, Jaundice, Mediastinal lymphade... ORPHA:160
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Villous atrophy, Refractory sideroblastic anemia, Hepatomegaly, Anemia, Pancytopenia... OMIM:557000
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Abnormality of the gastrointestinal tract, Atelectasis, Pleural eff... ORPHA:2902
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Lymphadenopathy, Short stature, Failure to thrive, Sp... OMIM:609981
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Dysosteosclerosis
Increased bone mineral density, Coarse metaphyseal trabecularization, Recurrent fractures, Cranio... ORPHA:1782
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Lissencephaly, Acute leukemia, Short stature ORPHA:281090
Diastrophic Dysplasia
Increased bone mineral density, Joint stiffness, Camptodactyly of finger, Joint hypermobility ORPHA:628
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... ORPHA:85188
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Osteogenesis Imperfecta, Type Xiii
Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Osteop... OMIM:614856
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Mediastinal lymphade... ORPHA:2302
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema, Weight loss ORPHA:1164
Albers-Schönberg Osteopetrosis
Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibular osteomyeli... ORPHA:53
Common Variable Immunodeficiency
Emphysema, Lymphadenopathy, Recurrent bronchitis, Gastrointestinal stroma tumor, Bronchiectasis, ... ORPHA:1572
Spondyloepiphyseal Dysplasia Tarda
Localized osteoporosis, Limited elbow movement, Stiff knee, Hip osteoarthritis, Increased bone mi... ORPHA:93284
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pleural effusion, Myelofibrosis, Leukocytosis, Thrombocyto... ORPHA:457077
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ... ORPHA:254361
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coronal craniosynostosis OMIM:616943
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Abnormally low T cell receptor excision circle level, Lymphopenia, Recurrent bronchopu... OMIM:242700
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Prolonged QT interval, Increased bone density with cystic changes... ORPHA:94089
Autoimmune Hypoparathyroidism
Increased bone mineral density, Ventricular arrhythmia, Abnormal left ventricular function, Prolo... ORPHA:36913
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent pneumonia, Protein-losing enteropathy, Neutropenia OMIM:613502
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification ORPHA:163649
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Decreased osteocl... OMIM:259710
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy OMIM:619063
C1Q Deficiency 2
Anemia, Atelectasis, Recurrent lower respiratory tract infections, Arthritis, Bronchiectasis OMIM:620321
Acute Interstitial Pneumonia
Reduced hematocrit, Atelectasis, Lymphadenopathy, Pleural effusion, Bronchiectasis, Interlobular ... ORPHA:79126
Werner Syndrome
Congestive heart failure, Increased bone mineral density, Hypertension, Osteoporosis, Joint stiff... ORPHA:902
Waardenburg Syndrome Type 3
Atelectasis, Tracheomalacia, Abnormal finger morphology, Synostosis of carpal bones, Joint stiffn... ORPHA:896
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Short stature, Cirrhosis, Emphysema, Portal hypertension OMIM:210050
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Ne... ORPHA:157798
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Rectal prolapse, Emphysema, Atelectasis, Sandal gap, Gastroesophageal reflux, Tracheo... OMIM:613177
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Hepatic hemangioma, Abnormal bone ossification, Hepatomegaly, Abnor... ORPHA:73230
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho... ORPHA:2978
Congenital Short Bowel Syndrome
Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ... OMIM:615237
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Clubbing, Dysphagia, Splenomegaly, Cholangitis, Myelofibrosis, Swelling of proxi... ORPHA:3260
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Jaundice, Abnormal liver parenchyma morphology, Anemi... ORPHA:64743
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Hepatomegaly, Atelectasis, Recurrent lower respirator... OMIM:620233
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Thin bony cortex, Osteopenia ORPHA:85184
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Intestinal pseudo-obstruction, Gastroesophageal reflux, ... OMIM:619350
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Emphysema, Hip dislocation OMIM:614100
Short-Rib Thoracic Dysplasia 12
Short finger, Hamartoma of tongue, Atelectasis, Hepatomegaly, Periportal fibrosis, Short long bon... OMIM:269860
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os... OMIM:112250
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame... OMIM:254450
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Increased bone mineral density, Aortic valve stenosis, Coarse metaphyseal trabecul... ORPHA:2780
Meier-Gorlin Syndrome 6
Delayed puberty, Emphysema, Sandal gap, Gastroesophageal reflux, Tracheobronchomalacia, Failure t... OMIM:616835
Majeed Syndrome
Increased bone mineral density, Synovitis, Flexion contracture, Osteomyelitis, Increased suscepti... ORPHA:77297
Farber Disease
Short finger, Atelectasis, Anemia, Lymphadenopathy, Arthritis, Intrahepatic cholestasis with epis... ORPHA:333
Alg6-Cdg
Protein-losing enteropathy, Jaundice, Shortening of all distal phalanges of the fingers, Failure ... ORPHA:79320
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Leukocytosis, Portal hy... ORPHA:729
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Absence of intrinsic factor, Megaloblast... OMIM:261000
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Osteoporosis, Ankylosis, Recurrent fractures OMIM:239000
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ... ORPHA:86843
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Emphysema, Genu valgum, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Arachnodactyly, Slender long bones with narrow diaphyses, Joint hypermob... ORPHA:536467
Rajab Interstitial Lung Disease With Brain Calcifications 1
Reduced bone mineral density, Cholestasis, Intestinal malrotation, Joint hypermobility, Intrauter... OMIM:613658
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Meier-Gorlin Syndrome 4
Emphysema, Slender long bone, Short stature, Failure to thrive, Patellar aplasia, Intrauterine gr... OMIM:613804
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension, Hyperglycemia, Osteoporosis OMIM:615954
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Abnormal salivary gland morphology, Emphysema, Medias... OMIM:181000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Anemia, Hepatomegaly, Cholestasis, Camptodactyly, Failure to thrive, ... OMIM:608104
Ménétrier Disease
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc... ORPHA:2494
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Atelectasis, Eosinophilia, Cleft palate, Joint hypermobility, Craniosynostosis, Recur... ORPHA:2314
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Postnatal growth retardation, Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly,... ORPHA:79303
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, High palate, Atelectasis, Neonatal death OMIM:300219
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Emphysema, Hepatomegaly, Bronchitis, Hepatocellular carcinoma, Cholestasis, ... ORPHA:60
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Emphysema, Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia, Pulmonary fibr... OMIM:620365
Meier-Gorlin Syndrome 1
Absent sternal ossification, Joint hypermobility, Intrauterine growth retardation, Coxa valga, Ge... OMIM:224690
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Systemic Sclerosis
Abnormal pulmonary interstitial morphology, Abnormal stomach morphology, Osteolytic defects of th... ORPHA:90291
Whim Syndrome
Atelectasis, Parotitis, Lymphopenia, Lymphadenitis, Abnormal neutrophil morphology, Bronchiectasi... ORPHA:51636
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Epistaxis OMIM:612840
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Joint contracture of the hand, Rectal prolapse, Protein-losing enteropathy, Intest... OMIM:235510
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Anemia, Leuko... ORPHA:2070
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Scedosporiosis
Abnormal jejunum morphology, Pleuritis, Bronchitis, Pleural empyema, Arthralgia/arthritis, Septic... ORPHA:449280
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Intrauterine growth retardation, Aspiration pneumonia ORPHA:70588
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral lung agenesis, Pulmonary artery atresia, Short stature, Agenesis... OMIM:601186
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Hematochezia, Osteolysis, N... ORPHA:73263
Thrombocytopenia 6
Thrombocytopenia, Myelofibrosis, Osteoporosis OMIM:616937
Dysosteosclerosis
Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap... OMIM:224300
Pycnodysostosis
Generalized osteosclerosis, Increased bone mineral density, Osteolytic defects of the distal phal... ORPHA:763
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections ORPHA:922
Camurati-Engelmann Disease
Increased bone mineral density, Cortical thickening of long bone diaphyses, Sclerosis of skull ba... OMIM:131300
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Polymicrogyria, Lymphopenia, Inflammation of the large intestine, Pulmonary... OMIM:619708
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Atelectasis, Liver abscess, Lymphadenopathy, Rectal abscess, Granulomatosis, Pleura... OMIM:306400
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Bone marrow hypocellularity, Leukopenia, Intrauterine growth retard... OMIM:615190
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Pylo... OMIM:300048
Gray Platelet Syndrome
Thrombocytopenia, Myelofibrosis, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis OMIM:604571
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Myelofibrosis, Absence of alpha granules, Thrombocytopenia, Macrothr... OMIM:187900
Poems Syndrome
Sclerosis of hand bone, Pulmonary arterial hypertension, Sclerosis of foot bone, Sclerosis of sku... ORPHA:2905
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Anemia, Clubbing of fingers, Glossitis, Cachexia, Clubbing, Hamartoma... OMIM:175500
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Mpi-Cdg
Gastrointestinal hemorrhage, Protein-losing enteropathy, Hepatomegaly, Portal hypertension, Failu... ORPHA:79319
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Intermittent claudication, Atrioventricular block, Raynaud phenom... OMIM:259900
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Emphysema, Pyloric stenosis, Recurrent pneumonia, Small bowel diverticula, Patholog... ORPHA:90349
Juvenile Polyposis Of Infancy
Midclavicular hypoplasia, Rectal prolapse, Protein-losing enteropathy, High, narrow palate, Gastr... ORPHA:79076
Hardikar Syndrome
Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m... OMIM:301068
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, Cachexia, Abnormal gast... ORPHA:1876
12Q14 Microdeletion Syndrome
Diabetes mellitus, Osteopoikilosis ORPHA:94063
Dextrocardia
Abnormal lung lobation, Meckel diverticulum, Pancreatic hypoplasia, Congenital hip dislocation, I... ORPHA:1666
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo... ORPHA:263665
Congenital Tracheomalacia
Pneumothorax, Emphysema, Esophageal atresia, Gastroesophageal reflux, Tracheomalacia, Tracheobron... ORPHA:95430
Oculoskeletodental Syndrome
Protein-losing enteropathy, Hepatomegaly, Elbow flexion contracture, Short stature, Splenomegaly,... OMIM:618440
Atypical Werner Syndrome
Congestive heart failure, Hyperinsulinemia, Progressive clavicular acroosteolysis, Reduced bone m... ORPHA:79474
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Meckel di... ORPHA:141127
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Intes... OMIM:615710
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis OMIM:618476
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo... OMIM:610978
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang... OMIM:161700
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Neonatal death, Congenital pyloric atresia OMIM:619817
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Spontaneous pneumothorax OMIM:618154
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count OMIM:259720
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections, Gastroesophageal reflux, Decreased bod... ORPHA:258
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Atelectasis, Hammertoe, Pancreatitis, Tracheomalacia, Splenic cyst, Polymicrogyria... OMIM:620371
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Extrapulmonary lobar sequestration, Hypoplasia of the small intestine, Postaxial ha... OMIM:200995
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Weight loss ORPHA:103910
Ciliary Dyskinesia, Primary, 1
Atelectasis, Recurrent bronchitis, Asplenia, Bronchiectasis, Pneumonia OMIM:244400
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infections, ... OMIM:619632
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Emphysema, Lymphadenopathy, Arthritis, Pleural effusion, Splenomegaly ORPHA:36412
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Atelectasis, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocytos... OMIM:618278
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Cardiomyopathy, Craniosynostosis, Multiple joint cont... ORPHA:33364
Erdheim-Chester Disease
Increased bone mineral density, Congestive heart failure, Osteomyelitis, Osteolysis ORPHA:35687
Schwartz-Jampel Syndrome
Flexion contracture of toe, Increased bone mineral density, Shoulder flexion contracture, Abnorma... ORPHA:800
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de... ORPHA:2658
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit... ORPHA:234
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Short stature, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Protein-losing enteropathy, Hepatomegaly, Pancreatic lymphangiectas... ORPHA:1655
Primary Hyperoxaluria
Heart block, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Generalized osteoscle... ORPHA:416
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Large for gestational age, High palate, Myelofibrosis, Short stature, Failure to thrive, Joint hy... OMIM:607721
Pearson Syndrome
Postnatal growth retardation, Steatorrhea, Hepatomegaly, Anemia, Pancytopenia, Median cleft palat... ORPHA:699
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Increased bone mineral density, Synostosis of carpal bones, Camptodactyly of f... ORPHA:90652
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... ORPHA:89936
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Hyperglycemia, Transient neonatal diabetes me... ORPHA:552
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hamartomatous stomach polyps, Rectal polyp... ORPHA:2929
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Lymphangioleiomyomatosis
Pneumothorax, Gastrointestinal hemorrhage, Atelectasis, Emphysema, Recurrent respiratory infectio... ORPHA:538
Gaucher Disease Type 3
Increased bone mineral density, Pulmonary arterial hypertension, Osteolysis, Increased susceptibi... ORPHA:77261
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Anorectal anomaly, Multiple suture craniosynostosis, Intestinal malr... ORPHA:567
Ellis Van Creveld Syndrome
Acute leukemia, Neonatal short-limb short stature, Genu valgum, Emphysema, Synostosis of carpal b... ORPHA:289
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita OMIM:259775
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Prolonged QT interval, Increased bone mineral density, Hypertension... ORPHA:79443
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones OMIM:127000
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepati... ORPHA:731
Loeys-Dietz Syndrome 4
Pneumothorax, High, narrow palate, Emphysema, High palate, Eosinophilic infiltration of the esoph... OMIM:614816
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatomegaly, Pancreatic lymphangiectasis, High palate, Postaxial han... OMIM:235255
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Recurrent pneumonia, Polysplenia, Abdominal situs inversus OMIM:620642
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Extramedullary hematopoiesis, Glossoptosis, Postaxial poly... ORPHA:2886
Gaucher Disease
Osteopenia, Increased bone mineral density, Abnormal bone structure, Pulmonary arterial hypertens... ORPHA:355
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification, Prolonged QT interval ORPHA:79444
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Netherton Syndrome
Short stature, Recurrent respiratory infections, Emphysema ORPHA:634
Lujo Hemorrhagic Fever
Stiff neck, Atelectasis, Fulminant hepatitis, Leukocytosis, Leukopenia, Dysphagia, Thrombocytopen... ORPHA:319213
Autosomal Dominant Cutis Laxa
Osteopenia, Postnatal growth retardation, Emphysema, Joint hypermobility, Bronchiolitis, Small bo... ORPHA:90348
Reynolds Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Arthritis, Abnormal gastric mucosa mo... ORPHA:779
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Cog8-Cdg
Failure to thrive, Protein-losing enteropathy ORPHA:95428
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones OMIM:620558
Sarcoidosis
Increased T cell count, Leukopenia, Bone cyst, Portal hypertension, Abnormal lung morphology, Abn... ORPHA:797
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Oculocerebrorenal Syndrome Of Lowe
Abnormal metaphysis morphology, Narrow palate, Delayed puberty, Genu valgum, Atelectasis, Anemia,... ORPHA:534
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Hypermobility of distal interphalangeal joints, Emphysema, Osteolytic defects of th... OMIM:130050
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Atelectasis, Osteoporosis, Failure to thrive, Respiratory tract infection, Dysphagi... ORPHA:365
Neonatal Marfan Syndrome
High, narrow palate, Emphysema, Arachnodactyly, Long fingers, Flexion contracture, Joint hypermob... ORPHA:284979
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Annular pancreas, Esophageal atresia, Meckel diverticulum, Pleural effusi... OMIM:265380
Relapsing Polychondritis
Atelectasis, Arthritis, Limitation of joint mobility, Chondritis, Hepatitis, Chondritis of pinna,... ORPHA:728
Keutel Syndrome
Emphysema, Premature fusion of phalangeal epiphyses, Short hallux, Epiphyseal stippling, Recurren... OMIM:245150
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal duodenum morphology, Abnormal stomach morphology... ORPHA:512
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Hyperglycemia, Type II diabetes mellitus, Myocardial infarction OMIM:615812
Digeorge Syndrome
High, narrow palate, Atelectasis, Anemia, Intervertebral disk degeneration, Gastroesophageal refl... OMIM:188400
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Marfan Syndrome
Osteopenia, Limited elbow movement, High, narrow palate, Reduced bone mineral density, Emphysema,... ORPHA:558
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Arachnodactyly, Joint hypermobility, Recurrent respiratory infections, Peripheral pulm... OMIM:219100
Williams Syndrome
Osteopenia, Congestive heart failure, Increased bone mineral density, Hypertension, Synostosis of... ORPHA:904
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Bifid uvula, Absent thumb, Dysphagia, Joint hypermobility, Intrauterine growth re... ORPHA:500150
Nocardiosis
Pneumothorax, Liver abscess, Emphysema, Pleuritis, Pleural effusion, Lymphadenitis, Peritonitis, ... ORPHA:31204
Viss Syndrome
Rocker bottom foot, Pulmonary artery aneurysm, Intestinal malrotation, Arachnodactyly, Malpositio... OMIM:619472
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Emphysema, High palate, Bowing of the long bones, Arachnodactyly, Long... OMIM:614437
Visceral Myopathy 1
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Intestinal ... OMIM:155310
Chand Syndrome
Short fifth metatarsal, Cleft palate, Atelectasis, Bifid tongue ORPHA:1401
Fabry Disease
Delayed puberty, Reduced bone mineral density, Abnormal femur morphology, Emphysema, Anemia, Arth... ORPHA:324
Sclerosteosis 1
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... OMIM:269500
Marfan Syndrome
Pneumothorax, Narrow palate, Limited elbow extension, Emphysema, Hammertoe, High palate, Camptoda... OMIM:154700
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Pulmonary arterial hypertension, Craniosynostosis, R... ORPHA:667
Proteus Syndrome
Macrodactyly, Bronchogenic cyst, Cachexia, Abnormal finger morphology, Calvarial hyperostosis, Jo... ORPHA:744
Ciliary Dyskinesia, Primary, 20
Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis,... OMIM:615067
Fraser Syndrome 1
Abnormal cortical gyration, Aplasia/Hypoplasia of the thumb, Cutaneous finger syndactyly, Cleft p... OMIM:219000
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Pleural effusion, Hematochezia, Recurrent upper respiratory tract inf... OMIM:618183
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Pneumothorax, High palate, Intestinal malrotation, Arachnodactyly, Cleft palate, Abnormal duodenu... OMIM:601776
Liver Disease, Severe Congenital
Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenomegaly, Joint hypermobility, Intrauterine g... OMIM:619991
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures, Pulmonary arterial hypertension ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones OMIM:269150
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the pulmonary artery, Emphysema, Abnormal intrahepatic bile duct morphology ORPHA:363618
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema OMIM:123700
Sotos Syndrome
Ankle flexion contracture, Aganglionic megacolon, Small cell lung carcinoma, Gastroesophageal ref... ORPHA:821

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 Tns3

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 Tns3.

No publications found that use IMPC mice or data for Tns3.

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
Tns3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tns3em1(IMPC)Bay Exon Deletion Mice

The IMPC Newsletter

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

Subscribe to newsletter