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Gene: Tns3 MGI:2443012

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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 4.79×10-05
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 content Tns3em1(IMPC)Bay HET Late adult 1.78×10-05
increased bone mineral density Tns3em1(IMPC)Bay HET Late adult 3.14×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Skull Lateral Orientation

12 Images

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Eye Morphology

VIP of right fundus

23 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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MicroCT E18.5

Embryo reconstruction

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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Eye Morphology

VIP of left eye

23 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Eye Morphology

VIP of left fundus

23 Images

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Eye Morphology

VIP of right eye

23 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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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
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Diabetes mellitus, Ectopic ossification OMIM:602475
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Villous atrophy, Bronchiectasis, Microvillus inclusions, Osteopenia,... OMIM:619445
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Failure to thrive, Crypt hyperplasia OMIM:613217
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis ORPHA:3416
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Growth delay, Villous atrophy OMIM:251850
Diarrhea 9
Failure to thrive, Villous atrophy OMIM:618168
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal bone ossification, Increased bone mineral density, Sclerosis of foot b... ORPHA:166119
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Enterocolitis, Short stature, Villous atrophy, Diffuse... OMIM:616050
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Melorheostosis
Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Ectopic ossification in... ORPHA:2485
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... OMIM:136300
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Protein-losing enteropathy, Villous atrophy OMIM:615863
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis OMIM:607634
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteochondrosis Of The Metatarsal Bone
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones ORPHA:564003
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Osteoporosis
Osteoporosis OMIM:166710
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Reduced natural killer cell count, T lymphocytopenia, Villous atrophy, Lymphopeni... OMIM:619510
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Secondary Short Bowel Syndrome
Enterocolitis, Villous atrophy, Weight loss, Malabsorption, Aganglionic megacolon, Volvulus, Smal... ORPHA:95427
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Clubbing of fingers, Colitis, T... OMIM:614700
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa... ORPHA:566943
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ... OMIM:144750
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa ... ORPHA:103907
Refractory Celiac Disease
Jejunitis, Villous atrophy, Weight loss, Malabsorption, Normocytic anemia, Abnormal spleen physio... ORPHA:398063
Immunodeficiency 31C
Osteomyelitis, Recurrent respiratory infections, Weight loss, Villous atrophy, Intussusception, B... OMIM:614162
Trichohepatoenteric Syndrome 2
Cirrhosis, Villous atrophy, Small for gestational age, Failure to thrive, Chronic hepatitis, Hepa... OMIM:614602
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... OMIM:166600
Congenital Tufting Enteropathy
Elevated fecal osmolality, Abnormal large intestinal mucosa morphology, Villous atrophy, Weight l... ORPHA:92050
Primary Intestinal Lymphangiectasia
Anemia, Increased stool alpha1-antitrypsin concentration, Reduced proportion of CD4+ effector mem... ORPHA:90362
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Congenital Disorder Of Glycosylation, Type Id
Flexion contracture, High palate, Joint contracture of the hand, Villous atrophy, Bifid uvula, Cl... OMIM:601110
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Hepatic fibrosis, Anemia, Recurrent fractures, Weight loss, Villous at... OMIM:619377
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Biliary tract abnormality, Cholangitis, Viral hepatitis, Failure ... OMIM:209920
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Chronic bronchitis, Bronchiectasis, Hepatocellular carcinoma, Gastric varix, Panacinar... OMIM:613490
Feingold Syndrome 2
2-3 toe syndactyly, Short middle phalanx of the 5th finger, Short stature, Short middle phalanx o... OMIM:614326
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hepatic fibrosis, Cirrhosis, Villous atrophy, Steatorrhea, Failure to thrive, H... OMIM:602579
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis OMIM:122860
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, T lymphocytopenia, Villous atrophy, Hemolytic anemia, B lymphocytopenia,... OMIM:606367
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, Autoimmune throm... OMIM:304790
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Intermediate Osteopetrosis
Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Generalized osteoscler... ORPHA:210110
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis OMIM:166260
Paget Disease Of Bone 3
Osteolysis, Patchy osteosclerosis, Fractures of the long bones OMIM:167250
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Villous atrophy, Duodenitis OMIM:614328
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Coxa vara, Short long bone, Lower-limb metaphyseal irregularity, Enlarged metaphyses,... OMIM:618728
Netherton Syndrome
Hypereosinophilia, Villous atrophy, Failure to thrive, Abnormal intestine morphology, Intestinal ... OMIM:256500
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Proprotein Convertase 1/3 Deficiency
Malabsorption, Obesity, Villous atrophy OMIM:600955
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Growth delay, Absence of intrinsic factor OMIM:243320
Alpha-Heavy Chain Disease
Anemia, Malabsorption, Lymphadenopathy, Growth delay, Hepatomegaly, Abnormal small intestine morp... ORPHA:100025
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Enterocolitis, T lymphocytopenia, Villous atrophy, Bronchiectasis, Short stature, Hepatitis, B ly... ORPHA:391487
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Gracile Bone Dysplasia
Asplenia, Short stature, Ankyloglossia, Slender long bone, Failure to thrive, Flared metaphysis, ... OMIM:602361
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea, Failure to thrive, Growth delay OMIM:613291
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, 4-layered lissencephaly, Microlissencephaly, Adducted thumb, D... ORPHA:89844
Buschke-Ollendorff Syndrome
Flexion contracture, Recurrent fractures, Arthritis, Osteopoikilosis, Generalized osteosclerosis,... ORPHA:1306
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Pneumonia, Splenomegaly, Bronchitis, Osteo... OMIM:619381
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Syndromic Diarrhea
Splenomegaly, Hepatic fibrosis, Hypoplasia of the thymus, Abnormality of the liver, Villous atrop... ORPHA:84064
Bronchogenic Cyst
Abnormal pleura morphology, Pulmonary cyst, Abnormal stomach morphology, Abnormality of the perit... ORPHA:2357
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Lissencephaly OMIM:619466
Immunodeficiency 87 And Autoimmunity
Necrotizing enterocolitis, Decreased proportion of CD4-positive T cells, Pleural effusion, Hepati... OMIM:619573
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Villous atrophy, Small for gestational age, Jau... ORPHA:567983
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Pulmonary sequestration, Small for gestational age, Emphysema, Abnormal lu... ORPHA:70589
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... ORPHA:90650
Trichohepatoenteric Syndrome 1
Splenomegaly, Hepatic fibrosis, Cirrhosis, Abnormality of the pancreas, Villous atrophy, Short st... OMIM:222470
Microgastria-Limb Reduction Defect Syndrome
Phocomelia, Hepatomegaly, Ectrodactyly, Absent hand, Abnormal cortical gyration, Esophageal atres... ORPHA:2538
Pearson Marrow-Pancreas Syndrome
Anemia, Villous atrophy, Reticulocytopenia, Small for gestational age, Malabsorption, Refractory ... OMIM:557000
Hypophosphatasia
Failure to thrive in infancy, Anemia, Recurrent fractures, Short stature, Emphysema, Abnormal met... ORPHA:436
Alg9-Cdg
Gastroesophageal reflux, Abnormal bone ossification, Rhizomelia, Villous atrophy, Periportal fibr... ORPHA:79328
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Short stature, Fat malabsorption, Jaundice, Rickets, Failure to thrive, Osteopenia, He... OMIM:211600
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Flexion contracture, Villous atrophy, Steatorrhea, Hepatic steatosis, Failure t... OMIM:212065
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Mirage Syndrome
Gastroesophageal reflux, Leukopenia, Radial club hand, Decreased body weight, Achalasia, Esophage... OMIM:617053
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Flexion contracture OMIM:612138
Recurrent Respiratory Papillomatosis
Failure to thrive, Recurrent pneumonia, Abnormal lung morphology, Recurrent upper respiratory tra... ORPHA:60032
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density, Pathologi... OMIM:259700
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Dysosteosclerosis
Increased bone mineral density, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, ... ORPHA:1782
Hypercholanemia, Familial 1
Rickets, Failure to thrive, Fat malabsorption, Steatorrhea OMIM:607748
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular osteomyelit... ORPHA:53
Castleman Disease
Anemia, Weight loss, Abnormality of the gastrointestinal tract, Jaundice, Generalized lymphadenop... ORPHA:160
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis... ORPHA:85188
Tracheobronchopathia Osteochondroplastica
Bronchitis, Recurrent respiratory infections, Calcification of cartilage, Recurrent pneumonia, Es... ORPHA:3348
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Osteogenesis Imperfecta, Type Xiii
Recurrent fractures, Increased bone mineral density, Joint hypermobility, Limitation of knee mobi... OMIM:614856
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Myelofibrosis, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis,... OMIM:301078
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Diastrophic Dysplasia
Camptodactyly of finger, Increased bone mineral density, Joint stiffness, Joint hyperflexibility ORPHA:628
Primary Ciliary Dyskinesia
Asplenia, Respiratory tract infection, Abnormal sperm motility, Bronchiectasis, Polysplenia, Peri... ORPHA:244
Essential Fructosuria
Hyperglycemia ORPHA:2056
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Decreased osteoclast count, Diaphyseal sclerosis, Mandibular ... OMIM:259710
Syndromic Recessive X-Linked Ichthyosis
Short stature, Abnormal stomach morphology, Lissencephaly, Acute leukemia ORPHA:281090
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Recurrent pneumonia, Recurrent lower respiratory tract infe... OMIM:616726
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification ORPHA:163649
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr... ORPHA:93284
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Hepatosplenomegaly, Pleural effusion, Eosinophilia, Cervical lymphad... ORPHA:3260
Sarcoidosis, Susceptibility To, 2
Abnormal pulmonary interstitial morphology, Pneumothorax, Bronchiectasis, Emphysema, Pleural effu... OMIM:612387
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... ORPHA:99886
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Serrated Polyposis Syndrome
Gastric diverticulum, Pancreatic adenocarcinoma, Colorectal polyposis, Biliary tract neoplasm, Ne... ORPHA:157798
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Cachexia, Emphysema, Clubbing, Recurrent lower respi... ORPHA:60033
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology OMIM:613502
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Bronchiectasis OMIM:615294
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Recurrent respiratory infections OMIM:619063
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal platelet morphology, Pyloric stenosis, Abnormal intestine morpho... ORPHA:2978
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Short stature, Fat malabsorption, Hepatocellular carcinoma, Int... OMIM:601847
Inflammatory Bowel Disease (Crohn Disease) 30
Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Esophagitis, Protein-losing entero... OMIM:619079
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Fat malabsorption, Jaundice, Acholic stools, Steatorrhea, Intrahepatic cholestasis, Ri... OMIM:607765
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Steatorrhea, Intestinal ... OMIM:615237
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Fat malabsorption, Biliary tract abnormality, Rickets, Cholestasis ORPHA:79168
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Gastroesophageal reflux, Generalized bone demineralization, Abnormal bone ossification, Short 5th... ORPHA:73230
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:254361
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Weight loss, Abnormality of the gastrointestinal tract, Pleural effusion, Leuk... ORPHA:2902
Waardenburg Syndrome Type 3
Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Synostosis of c... ORPHA:896
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Necr... OMIM:619350
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Cutis Laxa, Autosomal Recessive, Type Ic
Gastroesophageal reflux, Hypoplasia of the thymus, Pyloric stenosis, Joint laxity, Pulmonary hypo... OMIM:613177
Polycythemia Vera
Weight loss, Myelofibrosis, Gastrointestinal hemorrhage, Hepatomegaly, Portal vein thrombosis, Po... ORPHA:729
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Reduced hematocrit, Bronchiectasis, Subpleural honeycombing, P... ORPHA:79126
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Recurrent respiratory infections, Atele... OMIM:615067
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Increased bone mineral density, Ankylosis, Osteopenia, Osteoporosis OMIM:239000
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Subpleural honeycombing, Lung adenocarcinoma, Clubbin... ORPHA:2302
Majeed Syndrome
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Increased bone mineral... ORPHA:77297
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Hip dislocation, Limitation of joint mobility, Emphysema, Arachnodactyly ORPHA:171719
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Weight loss, Honeycomb lung, Emp... ORPHA:79127
Alg6-Cdg
Abnormality of the liver, Shortening of all distal phalanges of the fingers, Jaundice, Macrogloss... ORPHA:79320
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Myelofibrosis... ORPHA:86843
Short-Rib Thoracic Dysplasia 12
Lobulated tongue, Splenomegaly, Short toe, Neonatal death, Periportal fibrosis, Short foot, Bowin... OMIM:269860
Eosinophilic Gastroenteritis
Anemia, Weight loss, Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Eosin... ORPHA:2070
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Intrinsic Factor Deficiency
Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distribution width, Increased me... OMIM:261000
Scleroderma
Osteolytic defects of the phalanges of the hand, Gastroesophageal reflux, Gastrointestinal telang... ORPHA:801
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Emphysema OMIM:130700
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Facial hyperostosis, Coarse metaphyseal trabecular... ORPHA:2780
Common Variable Immunodeficiency
Abnormality of the liver, Recurrent respiratory infections, Bronchiectasis, Hemolytic anemia, Rec... ORPHA:1572
Ménétrier Disease
Abnormal gastric mucosa morphology, Stomach cancer, Gastroesophageal reflux, Weight loss, Multipl... ORPHA:2494
Myelofibrosis
Splenomegaly, Myelofibrosis, Myeloproliferative disorder OMIM:254450
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Jaundice, Extramedullary hematopoiesis, Steatorrhea, Rickets, Failure to thriv... ORPHA:79303
Werner Syndrome
Increased bone mineral density, Type II diabetes mellitus, Insulin resistance, Joint stiffness, O... ORPHA:902
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Osteopenia, Pathologic fracture, Osteoarthritis ORPHA:77259
Farber Disease
Short toe, Hepatic fibrosis, Flexion contracture, Nodular pattern on pulmonary HRCT, Anemia, Shor... ORPHA:333
Essential Thrombocythemia
Abnormal platelet morphology, Splenomegaly, Myelofibrosis, Acute leukemia ORPHA:3318
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Camptodactyly, Failure to thrive, Thrombocytopenia, Cholestasis, Hepatomegaly, Protein-lo... OMIM:608104
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Systemic Sclerosis
Osteolytic defects of the phalanges of the hand, Gastroesophageal reflux, Gastrointestinal telang... ORPHA:90291
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Bronchiectasis, Recurrent bronchopulmonary infections, Lymphopenia, Emphysema,... OMIM:242700
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Cac... ORPHA:1876
Surfactant Metabolism Dysfunction, Pulmonary, 3
Intraalveolar phospholipid accumulation, Nodular pattern on pulmonary HRCT, Neonatal death, Desqu... OMIM:610921
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Malabsorption, Gastrointestinal carcinoma, Cachexia, Glossitis, Clubbing of fingers, Club... OMIM:175500
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Clavicular sclerosis, Osteopenia, Scle... OMIM:224300
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Sclerosis of skull base, Cortical thickenin... OMIM:131300
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Weight loss, Emphysema ORPHA:1164
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoplastic iliac wing, Narrow palate, Short foot, Joint contracture of the hand, Small hand, Cor... OMIM:235510
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Hallux valgus, Pulmonary hypoplasia, Postnatal growth retardation, R... ORPHA:536467
Pycnodysostosis
Increased susceptibility to fractures, Coronal craniosynostosis, Increased bone mineral density, ... ORPHA:763
Autosomal Recessive Hypophosphatemic Rickets
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... ORPHA:289176
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Portal hypertension, Cirrhosis, Short stature, Emphysema OMIM:210050
Thrombocytopenia 6
Thrombocytopenia, Osteoporosis, Myelofibrosis OMIM:616937
Pancreatic Colipase Deficiency
Megaloblastic anemia, Fat malabsorption, Steatorrhea, Growth delay, Exocrine pancreatic insuffici... ORPHA:309108
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Achol... OMIM:615710
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, High palate, Atelectasis, Joint hypermobility OMIM:300219
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Recurrent fractures, Joint hyperflexibility, Osteopenia, Eosinophilia, Cleft palat... ORPHA:2314
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Myelofibrosis, Abnormal number of alpha granules OMIM:139090
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Increased mean platelet volume, Intestina... OMIM:300048
Scedosporiosis
Bronchitis, Septic arthritis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal jejunum morphol... ORPHA:449280
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis, Intrauterine growth retard... OMIM:615190
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Macrothrombocytopenia, Increased RBC distribution width, Gastrointestinal hemorrha... OMIM:187900
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Osteoporosis OMIM:615954
Whim Syndrome
Lymphadenitis, Respiratory tract infection, Neutropenia, Bronchiectasis, Abnormality of neutrophi... ORPHA:51636
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Fat malabsorption, Bone marrow hypocellul... ORPHA:811
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Hip dislocation, Emphysema OMIM:614100
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia OMIM:616604
Poems Syndrome
Sclerosis of foot bone, Sclerosis of skull base, Diabetes mellitus, Sclerosis of hand bone ORPHA:2905
Mpi-Cdg
Hepatic fibrosis, Failure to thrive, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertensi... ORPHA:79319
Hardikar Syndrome
Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac disease, Pulmonary artery sten... OMIM:301068
Meier-Gorlin Syndrome 6
Gastroesophageal reflux, Tracheobronchomalacia, Patellar aplasia, Small for gestational age, Simp... OMIM:616835
Alpha-1-Antitrypsin Deficiency
Hepatitis, Jaundice, Hepatomegaly, Emphysema ORPHA:60
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... ORPHA:263665
12Q14 Microdeletion Syndrome
Diabetes mellitus, Osteopoikilosis ORPHA:94063
Juvenile Polyposis Of Infancy
Broad phalanx of the toes, Anemia, Short stature, High, narrow palate, Intussusception, Cachexia,... ORPHA:79076
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Zygomycosis
Pneumothorax, Pleural effusion, Osteolysis, Gastritis, Colitis, Hematemesis, Splenic abscess, Unu... ORPHA:73263
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Osteomyelitis, Liver abscess, Granulomatosis, Pleural effusion, Recurrent pneumoni... OMIM:306400
Meconium Aspiration Syndrome
Aspiration pneumonia, Pneumothorax, Intrauterine growth retardation, Atelectasis ORPHA:70588
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification OMIM:618476
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis OMIM:259730
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Morphological abnormality of the ... ORPHA:141127
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis ORPHA:94089
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Gastric hypertrophy, Metaca... OMIM:161700
Oculoskeletodental Syndrome
Short femoral neck, Short stature, Small for gestational age, Elbow flexion contracture, Macroglo... OMIM:618440
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Hepatic steatosis, Slender build, Reduced bone mineral density, Abnormal pulmon... OMIM:613658
Meier-Gorlin Syndrome 4
Patellar aplasia, Short stature, Birth length less than 3rd percentile, Slender long bone, Emphys... OMIM:613804
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Pulmonary edema ORPHA:70587
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count OMIM:259720
Fanconi Renotubular Syndrome 5
Genu valgum, Lung adenocarcinoma, Emphysema, Hypophosphatemic rickets, Pulmonary fibrosis OMIM:618913
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Weight loss, Bronchiectasis, Arthritis, Generalized l... OMIM:181000
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pulmonary hypoplasia, Pancreatic fibrosis, Hepa... OMIM:200995
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Weight loss ORPHA:103910
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Esophageal stenosis OMIM:619817
Meier-Gorlin Syndrome 1
Flexion contracture, Coxa valga, Camptodactyly, Absent sternal ossification, Flat glenoid fossa, ... OMIM:224690
Autosomal Recessive Cutis Laxa Type 2, Classic Type
High palate, Generalized joint laxity, Short stature, Lissencephaly, Emphysema, Failure to thrive... ORPHA:357074
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Vascular Hyalinosis
Malabsorption, Protein-losing enteropathy, Hematochezia OMIM:277175
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Bilateral lung agenesis, Short stature, Multilobulated spleen, Pul... OMIM:601186
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Spontaneous pneumothorax OMIM:618154
X-Linked Hypophosphatemia
Vertebral hyperostosis, Enthesitis, Arthritis, Limitation of joint mobility, Generalized osteoscl... ORPHA:89936
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Limitation of... ORPHA:2658
Atypical Werner Syndrome
Osteolytic defects of the phalanges of the hand, Hyperinsulinemia, Hyperglycemia, Glycosuria, Inc... ORPHA:79474
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Biliary tract abnormality... ORPHA:234
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... ORPHA:552
Pearson Syndrome
Anemia, Abnormality of the liver, Small for gestational age, Exocrine pancreatic insufficiency, M... ORPHA:699
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
High palate, Short stature, Joint laxity, Large for gestational age, Myelofibrosis, Failure to th... OMIM:607721
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos... ORPHA:90652
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Gastroesophageal reflux, Flexion contracture, Decreased body weight, Macroglossia, Lissencephaly,... ORPHA:258
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reti... OMIM:618278
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancreatic lymphangiectasis, Hepatom... ORPHA:1655
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Cystic pattern on pulmonary HRCT, El... OMIM:610978
Ciliary Dyskinesia, Primary, 1
Asplenia, Bronchiectasis, Recurrent bronchitis, Pneumonia, Atelectasis OMIM:244400
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Craniosynostosis, Multiple joint contractures ORPHA:33364
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita OMIM:259775
Schwartz-Jampel Syndrome
Wrist flexion contracture, Hip contracture, Increased bone mineral density, Joint stiffness, Shou... ORPHA:800
Juvenile Polyposis Syndrome
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Neoplasm of the gastrointestinal ... ORPHA:2929
Familial Renal Glucosuria
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia ORPHA:69076
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Tarp Syndrome
Short sternum, Postaxial polydactyly, Finger syndactyly, Tongue nodules, Abnormal duodenum morpho... ORPHA:2886
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Autosomal Recessive Polycystic Kidney Disease
Fat malabsorption, Cholangiocarcinoma, Pulmonary hypoplasia, Hepatoblastoma, Hepatosplenomegaly, ... ORPHA:731
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, H... OMIM:235255
Gaucher Disease
Osteomyelitis, Recurrent fractures, Increased bone mineral density, Osteolysis, Osteopenia, Abnor... ORPHA:355
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis ORPHA:35687
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Wide anterior fontanel, Pyloric stenosis, Hip dislocation, Small bowel diverticula,... ORPHA:90349
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Abnormality of the tonsils, Cleft palate, Thrombocytopenia, Splenomegal... ORPHA:567
Congenital Tracheomalacia
Gastroesophageal reflux, Tracheobronchomalacia, Pneumothorax, Bronchiectasis, Esophageal atresia,... ORPHA:95430
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Pseudohypoparathyroidism Type 1A
Hyperostosis frontalis interna, Increased bone mineral density, Ectopic ossification, Reduced bon... ORPHA:79443
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Lymphangioleiomyomatosis
Pneumothorax, Emphysema, Lymphadenopathy, Chylothorax, Gastrointestinal hemorrhage, Abnormality o... ORPHA:538
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Arthritis, Jaundice, Xero... ORPHA:779
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification ORPHA:79444
Cog8-Cdg
Failure to thrive, Protein-losing enteropathy ORPHA:95428
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Congenital shortened small intestine, Neonatal death, Alveolar capillary dysplasia, Eso... OMIM:265380
Lujo Hemorrhagic Fever
Leukopenia, Stiff neck, Fulminant hepatitis, Lymphopenia, Odynophagia, Leukocytosis, Dysphagia, T... ORPHA:319213
Oculocerebrorenal Syndrome Of Lowe
Gastroesophageal reflux, Anemia, Genu valgum, Narrow palate, Recurrent fractures, Short stature, ... ORPHA:534
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Metachromatic Leukodystrophy
Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Neoplasm of the gallb... ORPHA:512
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... OMIM:119600
Relapsing Polychondritis
Hepatitis, Arthritis, Limitation of joint mobility, Anteriorly placed anus, Chondritis, Chondriti... ORPHA:728
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Flexion contracture, Macroglossia, Failure to thrive, Hepatomegaly, ... ORPHA:365
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Digeorge Syndrome
Gastroesophageal reflux, Anemia, High palate, Hypoplasia of the thymus, Short stature, Interverte... OMIM:188400
Autosomal Dominant Cutis Laxa
Bronchiectasis, Hip dislocation, Joint laxity, Small bowel diverticula, Emphysema, Adducted thumb... ORPHA:90348
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis ORPHA:416
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Viss Syndrome
Bifid tongue, Cleft soft palate, Pneumothorax, Bifid uvula, Hip dislocation, Submucous cleft soft... OMIM:619472
Sarcoidosis
Abnormal lymph node morphology, Pneumothorax, Bronchiectasis, Pleural effusion, Increased T cell ... ORPHA:797
Chand Syndrome
Cleft palate, Short fifth metatarsal, Bifid tongue, Atelectasis ORPHA:1401
Ehlers-Danlos Syndrome, Vascular Type
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Anemia, Pneumothorax, Pulmo... OMIM:130050
Williams Syndrome
Increased bone mineral density, Type II diabetes mellitus, Radioulnar synostosis, Joint laxity, S... ORPHA:904
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Craniosynostosis, Recurrent fractures, Reduced bone mineral density ORPHA:667
Keutel Syndrome
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Recurrent bronchitis, Em... OMIM:245150
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Wide pubic symphysis, Abnor... OMIM:219000
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Distal arthrogryposis, High palate, Generalized joint laxity, Pneumothorax, Abnormal duodenum mor... OMIM:601776
Diarrhea 10, Protein-Losing Enteropathy Type
Pleural effusion, Protein-losing enteropathy, Recurrent upper respiratory tract infections, Hemat... OMIM:618183
Liver Disease, Severe Congenital
Portal inflammation, Hepatic steatosis, Hepatomegaly, Thrombocytopenia, Protein-losing enteropath... OMIM:619991
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones OMIM:269150
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures ORPHA:2785

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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