Gene Summary

Name:
tensin 3
Synonyms:
Tens1,  F830010I22Rik,  TEM6

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral content Tns3em1(IMPC)Bay HET Late adult 2.35×10-05
increased fasting circulating glucose level Tns3em1(IMPC)Bay HET Late adult 1.30×10-05
preweaning lethality, incomplete penetrance Tns3em1(IMPC)Bay HOM   Early adult 0.00
increased bone mineral density Tns3em1(IMPC)Bay HET Late adult 4.34×10-05

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Select physiological systems to view:
Viewing: all phenotypes
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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.

Eye Morphology

VIP of left eye

23 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Eye Morphology

VIP of right eye

23 Images

Eye Morphology

VIP of right fundus

23 Images

Eye Morphology

VIP of left fundus

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 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
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus 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
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Immunodeficiency 31C
Osteopenia, Autoimmune hemolytic anemia, Growth delay, Recurrent respiratory infections, Short st... OMIM:614162
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Osteopenia, Respiratory trac... OMIM:619445
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Diaphyseal sclerosis, Facial hyperostosis OMIM:218300
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Arthritis, Small for gestational age, Villous atrophy OMIM:613217
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
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
Isolated Osteopoikilosis
Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Sclerotic foc... ORPHA:166119
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Short stature, Failure to thrive... OMIM:616050
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Melorheostosis
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Protein-losing enteropathy, Villous atrophy OMIM:615863
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Osteoporosis
Osteoporosis OMIM:166710
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Thickened cortex of bones ORPHA:564003
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Failure to thrive in infancy, Decrease... OMIM:619510
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Cholestasis, Aganglionic megacolon, Abnormality of the small intest... ORPHA:95427
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Trichohepatoenteric Syndrome 2
Intrauterine growth retardation, Small for gestational age, Colitis, Hepatomegaly, Failure to thr... OMIM:614602
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hepatomegaly, Failure to thrive, Protein-losing enteropathy, Villous atrophy, C... OMIM:602579
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Villous atrophy, Thrombocytopenia... OMIM:614700
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Refractory Celiac Disease
Microcytic anemia, Macrocytic anemia, Normocytic anemia, Osteoporosis, Abnormal spleen physiology... ORPHA:398063
Congenital Disorder Of Glycosylation, Type Id
High palate, Clinodactyly, Bifid uvula, Flexion contracture, Adducted thumb, Failure to thrive, L... OMIM:601110
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis,... OMIM:166600
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Arthritis, Abnormal small intestinal mucosa morpholo... ORPHA:92050
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased proportion of CD3-positive T cells, Increased stool alpha1... ORPHA:90362
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Avascular necrosis of the capital femoral epiphysis, Recurrent ... OMIM:619377
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Cholangitis, Colitis, Neutropenia,... OMIM:209920
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short thumb, Short middle phalanx of the 2nd finger, Shor... OMIM:614326
Intermediate Osteopetrosis
Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosis, Osteosclerosis of... ORPHA:210110
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis OMIM:122860
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Failure to thrive in infancy, Decreased proportion of CD4+... OMIM:606367
Gnathodiaphyseal Dysplasia
Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Osteopenia OMIM:166260
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, ... OMIM:304790
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Alpha-Heavy Chain Disease
Splenomegaly, Growth delay, Hepatomegaly, Abnormality of the small intestine, Anemia, Malabsorpti... ORPHA:100025
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Irregular femoral epiphysis, Upper-limb metaphyseal irregularit... OMIM:618728
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Duodenitis, Villous atrophy OMIM:614328
Netherton Syndrome
Hypereosinophilia, Failure to thrive, Abnormal intestine morphology, Intestinal atresia, Villous ... OMIM:256500
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor, Growth delay OMIM:243320
Proprotein Convertase 1/3 Deficiency
Obesity, Malabsorption, Villous atrophy OMIM:600955
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Growth delay, Failure to thrive, Increased fecal bile acid, Steatorrhea OMIM:613291
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification OMIM:215045
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Generalized osteoporosis, Recurrent upper respiratory tract infections, Osteopenia, Hepatosplenom... ORPHA:391487
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Gracile Bone Dysplasia
Brachydactyly, Hypoplastic spleen, Decreased skull ossification, Flared metaphysis, Short stature... OMIM:602361
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Abnormal bone struct... ORPHA:1306
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Intrauterine growth retardation, Rocker bottom foot, Adducted thumb, Dysphagi... ORPHA:89844
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Hypophosphatasia
Emphysema, Bowing of the long bones, Craniosynostosis, Recurrent fractures, Failure to thrive in ... ORPHA:436
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Intrauterine growth retardation, Small for g... ORPHA:84064
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Fat malabsorption, Osteopenia, Intrahepatic cholestasis with episodic jaundice, S... OMIM:211600
Microvillus Inclusion Disease
Abnormality of small intestinal villus morphology, Villous atrophy ORPHA:2290
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Portal hypertension, Small for gestational age, Splenomegaly, ... ORPHA:567983
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Abnormal vertebral segmentation and fusion, Limitation of joint mobil... ORPHA:90650
Immunodeficiency 87 And Autoimmunity
Cholestasis, Autoimmune hemolytic anemia, Villous atrophy, Necrotizing enterocolitis, Thrombocyto... OMIM:619573
Hypercholanemia, Familial 1
Failure to thrive, Fat malabsorption, Rickets, Steatorrhea OMIM:607748
Immunodeficiency 82 With Systemic Inflammation
Osteomalacia, Anemia, Hepatitis, Villous atrophy, Bronchitis, Reduced natural killer cell count, ... OMIM:619381
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Short thumb, Esophagitis, Abnormal lung lobation, Abnormality of the ... ORPHA:2538
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Decreased fibular diameter, Arachnodactyly, Short stature, Postnatal growth... OMIM:619489
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Alg9-Cdg
Bifid uvula, Periportal fibrosis, Rhizomelia, Gastroesophageal reflux, Hepatic cysts, Broad ischi... ORPHA:79328
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia, Flexion contracture OMIM:612138
Mirage Syndrome
Hypoplastic spleen, Decreased body weight, Achalasia, Intrauterine growth retardation, Leukopenia... OMIM:617053
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mineral density, ... ORPHA:1782
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Bronchiectasis, Failure to thrive, Metaphysea... OMIM:242700
Microgastria-Limb Reduction Defects Association
Absent thumb, Absent gallbladder, Hypoplasia of the ulna, Splenogonadal fusion, Hand oligodactyly... OMIM:156810
Sarcoidosis, Susceptibility To, 2
Emphysema, Clubbing, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Splenomegaly, P... OMIM:612387
Idiopathic Bronchiectasis
Emphysema, Clubbing, Respiratory tract infection, Bronchiectasis, Cachexia, Recurrent lower respi... ORPHA:60033
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy OMIM:619063
Bronchogenic Cyst
Bronchogenic cyst, Abnormal stomach morphology, Pneumonia, Abnormal pleura morphology, Pulmonary ... ORPHA:2357
Trichohepatoenteric Syndrome 1
Bifid uvula, Intrauterine growth retardation, Small for gestational age, Cholestasis, Abnormality... OMIM:222470
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Panacinar emphysema, Chronic bronchitis, Hepatocellular carcinoma OMIM:613490
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Esophagitis, Du... OMIM:619079
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Osteomyelitis, Osteopetrosis, Pathologic fractu... OMIM:259700
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Recurrent pneumonia, Abnormal T cell morphology, Protein-losing enteropathy OMIM:613502
Congenital Short Bowel Syndrome
Intestinal malrotation, Decreased intestinal transit time, Abnormal peristalsis, Failure to thriv... OMIM:615237
Albers-Schönberg Osteopetrosis
Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Osteomyelitis, Mandibular osteom... ORPHA:53
Spondyloepiphyseal Dysplasia Tarda
Premature osteoarthritis, Hip osteoarthritis, Increased bone mineral density, Limited wrist movem... ORPHA:93284
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Clinodactyly, Bifid uvula, Intrauterine growth retardation, Small for gestational ag... ORPHA:96184
Metaphyseal Dysplasia, Braun-Tinschert Type
Sclerosis of middle finger phalanx, Osteopenia, Increased bone mineral density, Thin bony cortex,... ORPHA:85188
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Short stature, Failure t... OMIM:601847
Intrinsic Factor Deficiency
Absence of intrinsic factor, Megaloblastic anemia, Increased mean corpuscular volume, Malabsorpti... OMIM:261000
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Transient neonatal diabetes mellitus, Maternal diabetes, Maturity-onset di... ORPHA:99886
Diastrophic Dysplasia
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Disorder Of Bile Acid Synthesis
Fat malabsorption, Abnormality of the liver, Cholestasis, Biliary tract abnormality, Rickets ORPHA:79168
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Immunodeficiency 54
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Sh... OMIM:609981
Castleman Disease
Myelofibrosis, Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Jaundice, ... ORPHA:160
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thr... OMIM:607765
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Lissencephaly, Short stature, Acute leukemia ORPHA:281090
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of calv... OMIM:601376
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Diaphyseal sclerosis, Recurrent fractures, Osteomyelitis, Mandibular osteom... OMIM:259710
Congenital Disorder Of Glycosylation, Type Ih
Intrauterine growth retardation, Cholestasis, Hepatomegaly, Anemia, Failure to thrive, Protein-lo... OMIM:608104
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Arachnodactyly, Limitation of joint mobility, Hip dislocation ORPHA:171719
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Dysphagia, Pancreatitis, Thrombocytopeni... ORPHA:3260
Serrated Polyposis Syndrome
Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neoplasm, Adenomatous coloni... ORPHA:157798
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anemia, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho... ORPHA:2978
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Delayed patellar ossification, Increased bone mineral density ORPHA:163649
Alg6-Cdg
Brachydactyly, Shortening of all distal phalanges of the fingers, Abnormality of the liver, Jaund... ORPHA:79320
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Clubbing, Hypersensitivity pneumonitis, Honeycomb lung, Chronic bronchitis, Respirator... ORPHA:79127
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Osteopenia, Increased bone mineral density ORPHA:85184
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Eosinophilic Gastroenteritis
Hematochezia, Eosinophilia, Abnormality of the gastrointestinal tract, Leukocytosis, Anemia, Mala... ORPHA:2070
Common Variable Immunodeficiency
Emphysema, Gastrointestinal stroma tumor, Abnormality of the liver, Pneumonia, Failure to thrive ... ORPHA:1572
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Slender long bone, Metaphyseal widening, Generalized bone demineralization, Gastroesophageal refl... ORPHA:73230
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Bronchopulmonary Dysplasia
Emphysema, Small for gestational age, Pulmonary sequestration, Abnormal lung morphology, Tracheob... ORPHA:70589
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone density with cystic changes, Increased bone mineral density ORPHA:94089
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Hepatic steatosis, Cholestasis, Extramedullary hematopoiesis, Hepatomegaly, Ja... ORPHA:79303
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Gastrointestinal hemorrhage, Periportal fibrosis,... ORPHA:64743
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Recurrent fractures, Increased bone mineral density, Osteoporosis, Ankylosis OMIM:239000
Matthew-Wood Syndrome
Intrauterine growth retardation, Abnormal spleen morphology, Failure to thrive, Duodenal stenosis... ORPHA:2470
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Weight loss, Bronchiectasis ORPHA:1164
Majeed Syndrome
Flexion contracture, Increased bone mineral density, Increased susceptibility to fractures, Osteo... ORPHA:77297
Polycythemia Vera
Myelofibrosis, Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Acut... ORPHA:729
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Gastrointestinal carcinoma, Clubbing, Hamartomatous polyposis, Anemia, Malabsorptio... OMIM:175500
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Short palm, Coronal craniosynostosis, Mild postnatal growth retardat... OMIM:235510
Surfactant Metabolism Dysfunction, Pulmonary, 3
Clubbing, Nonspecific interstitial pneumonia, Reticular pattern on pulmonary HRCT, Honeycomb lung... OMIM:610921
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cirrhosis, Short stature, Portal hypertension OMIM:210050
Scleroderma
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Flexion contracture, Hype... ORPHA:801
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Myelofibrosis, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, L... ORPHA:86843
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Recurrent fractures OMIM:611490
Ménétrier Disease
Gastrointestinal hemorrhage, Giant hypertrophic gastritis, Helicobacter pylori infection, Gastroe... ORPHA:2494
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Intestinal pseudo-obstruction, Thrombocytopenia, Increa... OMIM:300048
Scedosporiosis
Abnormal jejunum morphology, Pneumonia, Arthralgia/arthritis, Osteomyelitis, Pulmonary fibrosis, ... ORPHA:449280
Meier-Gorlin Syndrome 7
High palate, Bowing of the legs, Craniosynostosis, Decreased body weight, 2-3 toe syndactyly, Ana... OMIM:617063
Myelofibrosis
Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Increased bone mineral density, Abnormal trabecular bone morp... ORPHA:289176
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Arachnodactyly, Hip dislocation OMIM:614100
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Trigonocephaly 1
Craniosynostosis, Meckel diverticulum OMIM:190440
Meier-Gorlin Syndrome 6
Emphysema, Small for gestational age, Severe short stature, Sandal gap, Gastroesophageal reflux, ... OMIM:616835
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Acute leukemia, Abnormal platelet morphology ORPHA:3318
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatitis, Hepatomegaly, Jaundice ORPHA:60
Mpi-Cdg
Portal hypertension, Gastrointestinal hemorrhage, Hepatomegaly, Failure to thrive, Protein-losing... ORPHA:79319
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Chronic neutropenia, Anemia, Aplastic anemia, Me... ORPHA:811
Systemic Sclerosis
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Flexion contracture, Gast... ORPHA:90291
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Sclerosis of hand bone, Increased susceptibility to fractures, ... OMIM:224300
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intussusception, High, narrow palate, Rectal prolapse,... ORPHA:79076
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Abnormal gastric mucosa morphology, Malabsorption, Cac... ORPHA:1876
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Sclerosis of skull base, Increa... OMIM:131300
Oculoskeletodental Syndrome
Small for gestational age, Short femoral neck, Splenomegaly, Hepatomegaly, Macroglossia, Short st... OMIM:618440
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption, Hepatomegaly, Intrahepatic cholestasis, Failure to thrive, Prolonged neonatal ... OMIM:214950
Microcephalic Primordial Dwarfism, Montreal Type
Reduced bone mineral density, Congenital pyloric atresia, Severe short stature ORPHA:2617
Dextrocardia
Intestinal malrotation, Pancreatic hypoplasia, Congenital hip dislocation, Meckel diverticulum, A... ORPHA:1666
X-Linked Non-Syndromic Intellectual Disability
Shortening of all distal phalanges of the fingers, 2-3 toe syndactyly, Small for gestational age,... ORPHA:777
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Meier-Gorlin Syndrome 4
Emphysema, Intrauterine growth retardation, Failure to thrive, Short stature, Slender long bone, ... OMIM:613804
Fanconi Renotubular Syndrome 5
Emphysema, Hypophosphatemic rickets, Lung adenocarcinoma, Pulmonary fibrosis, Genu valgum OMIM:618913
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Joint laxity, Gastroesophageal reflux, Sandal gap, Growth delay, Recta... OMIM:613177
Pycnodysostosis
Increased bone mineral density, Coronal craniosynostosis, Joint laxity, Osteolytic defects of the... ORPHA:763
Diverticulosis, Small-Intestinal
Jejunal diverticula, Rheumatoid arthritis, Jejunoileal diverticula, Ulcerative colitis, Duodenal ... OMIM:223320
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Hypoplastic colon, Extrapulmonary sequestrum, Hepatomegaly, Postaxial hand poly... OMIM:200995
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Osteoporosis OMIM:615954
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Cholestasis, Slender build, Bile duct proliferation, Anemia, Rickets, Abnormal pulm... OMIM:613658
Meier-Gorlin Syndrome 1
Absent sternal ossification, Genu varum, Clinodactyly of the 5th finger, Small hand, Aplasia/Hypo... OMIM:224690
Sarcoidosis, Susceptibility To, 1
Emphysema, Clubbing, Abnormal salivary gland morphology, Pancytopenia, Weight loss, Elevated bron... OMIM:181000
Gray Platelet Syndrome
Myelofibrosis, Abnormal number of alpha granules, Thrombocytopenia, Splenomegaly OMIM:139090
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Myelofibrosis, Thrombocytopenia, Gastrointestinal hemorrhage OMIM:187900
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Protein-losing enteropathy ORPHA:103910
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Increased bone mineral density, Decreased osteoclast count OMIM:259720
Martinez-Frias Syndrome
Intrauterine growth retardation, Intestinal hypoplasia, Intestinal malrotation, Pancreatic hypopl... OMIM:601346
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Intrauterine growth retardation, Bone marrow hypocellularity, Colitis, Postnatal grow... OMIM:615190
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Increased T cell count, Gastroesophageal reflux, C... ORPHA:263665
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Diabetes mellitus ORPHA:2905
Hardikar Syndrome
Cholestasis, Cholangitis, Bile duct proliferation, Osteoporosis, Hematemesis, Hypersplenism, Thro... OMIM:301068
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis OMIM:259730
Chylomicron Retention Disease
Fat malabsorption, Hepatic steatosis, Increased hepatocellular lipid droplets, Growth delay, Acan... ORPHA:71
Vascular Hyalinosis
Hematochezia, Malabsorption, Protein-losing enteropathy OMIM:277175
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Tracheoesop... ORPHA:141127
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Interstitial emphysema, Overlapping fingers, Knee flexion contracture, Bron... OMIM:619708
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
12Q14 Microdeletion Syndrome
Osteopoikilosis, Diabetes mellitus ORPHA:94063
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis, Myeloid leukemia OMIM:616604
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Hypoplasia of the ulna, Rhizomelia, Hypoplasia of the radius, Meckel diverticulum,... OMIM:602613
Harrod Syndrome
High palate, Malrotation of small bowel, Aganglionic megacolon, High, narrow palate, Arachnodacty... OMIM:601095
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Meckel diverticulum, Neutropenia, Short stature, Failure to thri... OMIM:616395
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Clubbing, Proximal phalangeal periosteal thickening, Gastric ulcer, Metacarpal periosteal thicken... OMIM:161700
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pleural thickening, Decreased eosinophil count, Bronchiectasis, Pulmonary bulla,... OMIM:619632
Serkal Syndrome
Malrotation of small bowel, Growth delay, Pulmonary hypoplasia ORPHA:139466
Juvenile Polyposis Syndrome
Hematochezia, Clubbing, Colon cancer, Intussusception, Rectal prolapse, Anemia, Failure to thrive... OMIM:174900
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Whim Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphadenitis, Paro... ORPHA:51636
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Pulmonary lymphangiectasia, Pancreat... ORPHA:1655
Alg1-Cdg
Abnormality of the gastrointestinal tract, Limitation of joint mobility, Protein-losing enteropathy ORPHA:79327
Desmosterolosis
Osteopetrosis, Increased bone mineral density ORPHA:35107
Werner Syndrome
Joint stiffness, Increased bone mineral density, Insulin resistance, Osteoporosis, Type II diabet... ORPHA:902
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Fat malabsorption, Megaloblastic anemia, Steat... ORPHA:309108
Bare Lymphocyte Syndrome, Type I
Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis OMIM:604571
Juvenile Polyposis Syndrome
Neoplasm of the gastrointestinal tract, Gastrointestinal hemorrhage, Colon cancer, Hepatic arteri... ORPHA:2929
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Anemia, Tibial torsion, Thrombocyt... OMIM:274000
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Type II diabetes melli... OMIM:604367
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Hypoplastic spleen, Intrauterine growth retardation, Bilateral lun... OMIM:601186
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Protein-losing enteropathy... ORPHA:731
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Splenomegaly, Hepatomegaly, Pulmonary lymphangiectasia, Pancreatic lymphangiectasis,... OMIM:235255
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Recurrent pneumonia, Intrauterine growth retardation, Small bowel diverticula, Joint l... ORPHA:90349
X-Linked Hypophosphatemia
Craniosynostosis, Arthritis, Limitation of joint mobility, Vertebral hyperostosis, Enthesitis, Ge... ORPHA:89936
Netherton Syndrome
Emphysema, Recurrent respiratory infections, Short stature, Malabsorption ORPHA:634
Dubin-Johnson Syndrome
Abnormality of the liver, Hepatomegaly, Jaundice, Abnormal gastric mucosa morphology, Biliary tra... ORPHA:234
Tarp Syndrome
Tongue nodules, Clinodactyly, Hypoplasia of proximal radius, Finger syndactyly, Intrauterine grow... ORPHA:2886
Mosaic Trisomy 16
Clinodactyly, Abnormality of the gastrointestinal tract, Intrauterine growth retardation, Small f... ORPHA:1708
Pericardial And Diaphragmatic Defect
Morphological abnormality of the gastrointestinal tract, Intestinal malrotation, Meckel diverticu... ORPHA:2847
Atypical Werner Syndrome
Glycosuria, Increased bone mineral density, Hyperinsulinemia, Sclerosis of hand bone, Osteoporosi... ORPHA:79474
Loeys-Dietz Syndrome 4
Emphysema, High palate, Bifid uvula, Broad uvula, Joint laxity, High, narrow palate, Protrusio ac... OMIM:614816
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Tarsal synostosis,... ORPHA:90652
Pearson Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Reticulocytosis, Hypoplastic spleen, Abnormality... ORPHA:699
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Increased bone mineral density, Facial hyperostosis, Osteopetrosis, Elbow a... ORPHA:2658
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Large for gestational age, High palate, Myelofibrosis, Joint laxity, Failure to thrive, Short sta... OMIM:607721
Isolated Biliary Atresia
Fat malabsorption, Small for gestational age, Cholestasis, Bile duct proliferation, Periportal fi... ORPHA:30391
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Hyperinsulinemia, Osteolytic defects of the distal phalanges of the hand, Hy... OMIM:608612
Congenital Tracheomalacia
Emphysema, Recurrent upper respiratory tract infections, Pneumonia, Tracheomalacia, Tracheobronch... ORPHA:95430
Trichothiodystrophy
Craniosynostosis, Osteopenia, Multiple joint contractures, Increased bone mineral density ORPHA:33364
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatosplenomegaly, Cholestasis, Bile duct proliferation, Jaundice, Cirrhosis ORPHA:79302
Schwartz-Jampel Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Shoulder flexion contracture, Flex... ORPHA:800
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita OMIM:259775
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Transient neonatal diabet... ORPHA:552
Gaucher Disease
Osteopenia, Increased bone mineral density, Joint stiffness, Recurrent fractures, Abnormal bone s... ORPHA:355
Cog8-Cdg
Failure to thrive, Protein-losing enteropathy ORPHA:95428
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Joint stiffness, Hyperinsulinemia, Osteolytic defects of the distal phalange... OMIM:248370
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hiatus hernia, High palate, Distal arthrogryposis, Abnormal duodenum morphology, Joint laxity, In... OMIM:601776
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Barrett esophagus, Hypoperistalsis OMIM:611376
Hypocomplementemic Urticarial Vasculitis
Emphysema, Splenomegaly, Hepatomegaly, Pleural effusion, Lymphadenopathy, Arthritis ORPHA:36412
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Gaucher Disease Type 3
Osteolysis, Increased susceptibility to fractures, Increased bone mineral density ORPHA:77261
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Fryns Syndrome
Large for gestational age, Chylothorax, Stillbirth, Rocker bottom foot, Intestinal malrotation, A... OMIM:229850
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Tracheoesophageal fistula, Neonatal death, Partial anomalous pulmonary ve... OMIM:265380
Erdheim-Chester Disease
Osteomyelitis, Osteolysis, Increased bone mineral density ORPHA:35687
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Ectopic ossification, Increased bone mineral density, Hyperostosis ... ORPHA:79443
Reynolds Syndrome
Gastroesophageal reflux, Hepatomegaly, Jaundice, Abnormal gastric mucosa morphology, Dysphagia, C... ORPHA:779
Ellis Van Creveld Syndrome
Emphysema, Synostosis of carpal bones, Neonatal short-limb short stature, Abnormality of pelvic g... ORPHA:289
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption, Decreased body weight, Acanthocytosis, Short stature, Abnormal erythrocyte mor... ORPHA:96180
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density ORPHA:79444
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Os... ORPHA:2298
Fanconi Anemia
Abnormal thumb morphology, Abnormality of the ulna, Clinodactyly of the 5th finger, Pyridoxine-re... ORPHA:84
Zygomycosis
Hematochezia, Gastrointestinal hemorrhage, Colitis, Peritonitis, Pancreatitis, Pleural effusion, ... ORPHA:73263
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Trisomy 8P
Brachydactyly, Malrotation of small bowel, Bifid uvula, Recurrent upper respiratory tract infecti... ORPHA:264450
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Abnormal gallbladder ... ORPHA:512
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Autosomal Dominant Cutis Laxa
Emphysema, Osteopenia, Bronchiolitis, Intrauterine growth retardation, Small bowel diverticula, J... ORPHA:90348
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
Sclerosteosis 1
Sclerotic scapulae, Cortically dense long tubular bones, Facial palsy secondary to cranial hypero... OMIM:269500
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Emphysema, Exocrine pancreatic insufficiency, Recurrent pneumonia, Biliary cirrhosis, Biliary tra... OMIM:219721
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia, Arthrogryposis multiplex congenita OMIM:226730
Marfan Syndrome
Emphysema, Osteopenia, Slender build, Osteoporosis, Pulmonary artery dilatation, High, narrow pal... ORPHA:558
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Recurrent respiratory infections, Arachnodactyly, Joint laxity OMIM:219100
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Ehlers-Danlos Syndrome, Vascular Type
Emphysema, Finger joint hypermobility, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemo... OMIM:130050
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Epiphyseal stippling, Short hallux, Short thumb, Peripher... OMIM:245150
Wolf-Hirschhorn Syndrome
Accessory spleen, Short thumb, Vertebral fusion, Hip dysplasia, Cleft palate, Hip dislocation, Ma... OMIM:194190
Sarcoidosis
Increased T cell count, Anemia, Bone cyst, Thrombocytopenia, Emphysema, Abnormality of the gastro... ORPHA:797
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Neonatal Marfan Syndrome
Emphysema, Flexion contracture, Small for gestational age, Long toe, High, narrow palate, Joint h... ORPHA:284979
Fraser Syndrome 1
Abnormal cortical gyration, Aplasia/Hypoplasia of the thumb, Abnormality of the thymus, Abnormali... OMIM:219000
Fabry Disease
Emphysema, Achalasia, Abnormality of femur morphology, Anemia, Short stature, Malabsorption, Redu... ORPHA:324
Lymphangioleiomyomatosis
Emphysema, Chylothorax, Gastrointestinal hemorrhage, Pulmonary lymphangiomyomatosis, Recurrent re... ORPHA:538
Viss Syndrome
Bifid uvula, Generalized joint laxity, High, narrow palate, Macroglossia, Dysphagia, Genu valgum,... OMIM:619472
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Failure to thrive in infancy, Gastrointestinal dysmotility, Dysphagia, Proportionate... ORPHA:500150
Abetalipoproteinemia
Fat malabsorption, Hepatic steatosis, Osteopenia, Cirrhosis, Hepatomegaly, Acanthocytosis, Anemia... ORPHA:14
Nocardiosis
Emphysema, Pneumonia, Lymphadenitis, Peritonitis, Pleural effusion, Osteomyelitis, Pneumothorax, ... ORPHA:31204
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Pleural effusion, Protein-losing enteropathy OMIM:618183
Williams Syndrome
Osteopenia, Increased bone mineral density, Joint stiffness, Joint laxity, Osteoporosis, Radiouln... ORPHA:904
Visceral Myopathy 1
Megaduodenum, Aganglionic megacolon, Microcolon, Dysphagia, Pancreatitis, Intestinal pseudo-obstr... OMIM:155310
Autosomal Recessive Malignant Osteopetrosis
Reduced bone mineral density, Osteopetrosis, Craniosynostosis, Recurrent fractures ORPHA:667
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hepatoblastoma, Total anomalous pulmonary venous return, Short ... OMIM:312870
Marfan Syndrome
Emphysema, High palate, Premature osteoarthritis, Flexion contracture, Hammertoe, Equinus calcane... OMIM:154700
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, High palate, Pulmonary artery aneurysm, Pulmonary artery dilatation, Joint hypermobili... OMIM:614437
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Increased density of long bones, Sclerosis of skull base OMIM:269150
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery, Abnormality of the intrahepatic bile duct ORPHA:363618

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.

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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

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