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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 4.37×10-05
increased bone mineral density Tns3em1(IMPC)Bay HET Late adult 4.98×10-05
increased bone mineral content Tns3em1(IMPC)Bay HET Late adult 7.21×10-05
preweaning lethality, incomplete penetrance Tns3em1(IMPC)Bay HOM   Early adult 0.00
increased fasting circulating glucose level Tns3em1(IMPC)Bay HET Late adult 1.30×10-05

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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 fundus

23 Images

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Eye Morphology

VIP of right fundus

23 Images

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Eye Morphology

VIP of left eye

23 Images

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Eye Morphology

VIP of right eye

23 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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MicroCT E18.5

Embryo reconstruction

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
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density 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
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Diarrhea 12, With Microvillus Atrophy
Osteopenia, Villous atrophy, Microvillus inclusions, Respiratory tract infection, Bronchiectasis,... OMIM:619445
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Failure to thrive OMIM:613217
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Villous atrophy, Abnormal intestine morphology OMIM:251850
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Short stature, Diffuse alveolar hemorrhage, Thrombocytopenia, Sple... OMIM:616050
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Failure to thrive, Protein-losing enteropathy OMIM:615863
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Villous atrophy, Failure to thrive in infancy, Oligoarthritis, ... OMIM:619510
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Osteoporosis
Osteoporosis OMIM:166710
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Inflammation of the large intes... OMIM:614700
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... ORPHA:398063
Immunodeficiency 31C
Osteopenia, Recurrent respiratory infections, Villous atrophy, Osteomyelitis, Short stature, Hepa... OMIM:614162
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, ... OMIM:614602
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ... ORPHA:90362
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Failure to thrive, Long fingers, Flexion contracture, High palate, Arthrogryposi... OMIM:601110
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture... OMIM:619377
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i... OMIM:209920
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Splenomegaly, Panacinar emphysema, Bronchiectasis, Gastric varix, Hepatocellu... OMIM:613490
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,... OMIM:614326
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Protein-losing enteropathy, Hepatic fibrosis, Cirrhosis, Steatorrh... OMIM:602579
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Chylomicron Retention Disease
Growth delay, Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steat... OMIM:246700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Villous atrophy, Hemolytic anemia, Failure to thrive in infancy... OMIM:606367
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Hepatitis, L... OMIM:304790
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Failure to thrive, Duodenitis OMIM:614328
Netherton Syndrome
Recurrent respiratory infections, Villous atrophy, Hypereosinophilia, Failure to thrive, Recurren... OMIM:256500
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Malabsorption OMIM:600955
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Villous atrophy, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytope... ORPHA:391487
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Gracile Bone Dysplasia
Short stature, Asplenia, Flared metaphysis, Decreased skull ossification, Slender long bone, Hypo... OMIM:602361
Bile Acid Malabsorption, Primary, 1
Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Rocker bottom foot, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, O... OMIM:619381
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Lissencephaly, Bronchiectasis OMIM:619466
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Short stature, Gastritis, Small for gestational age, Increased mea... ORPHA:84064
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s... ORPHA:2357
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Hepatomegaly, Short stature, Joint stiffness, Postnatal growth ... OMIM:620210
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Immunodeficiency 87 And Autoimmunity
Villous atrophy, Atrophic gastritis, Hepatic steatosis, Decreased proportion of CD4-positive T ce... OMIM:619573
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Biliary hyperplasi... ORPHA:567983
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Abnormal lung lobation, Abnormal finger morphology, Gastroesophageal r... ORPHA:2538
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Short stature, Small for gestational age, Increased mean platelet ... OMIM:222470
Bronchopulmonary Dysplasia
Small for gestational age, Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestrat... ORPHA:70589
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Hepatomegaly, Small for gestational age, Refractory sidero... OMIM:557000
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Short stature, Recurrent fractures, Crani... ORPHA:436
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Splenom... OMIM:211600
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Alg9-Cdg
Hepatomegaly, Villous atrophy, Rhizomelia, Wide anterior fontanel, Abnormal lung lobation, Flared... ORPHA:79328
Mirage Syndrome
Overlapping fingers, Short stature, Rocker bottom foot, Radial club hand, Esophageal stricture, T... OMIM:617053
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Villous atrophy, Flexion contracture, Hepatic fibrosis, Steatorrhea, Th... OMIM:212065
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Flexion contracture, Congenital pyloric atresia OMIM:612138
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... OMIM:259700
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Hypercholanemia, Familial 1
Fat malabsorption, Failure to thrive, Rickets, Steatorrhea OMIM:607748
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha... ORPHA:3348
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Castleman Disease
Myelofibrosis, Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lym... ORPHA:160
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth d... OMIM:301078
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Syndromic Recessive X-Linked Ichthyosis
Short stature, Acute leukemia, Lissencephaly, Abnormal stomach morphology ORPHA:281090
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Pneumothorax, Clubbing, Bronchiectasis, ... OMIM:612387
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Clu... ORPHA:3260
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrh... OMIM:601847
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Splenomegaly, Rickets, Ac... OMIM:607765
Idiopathic Bronchiectasis
Cachexia, Respiratory tract infection, Emphysema, Clubbing, Bronchiectasis, Acute infectious pneu... ORPHA:60033
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Recurrent pneumonia, Protein-losing enteropathy, Abnormal T cell morphology OMIM:613502
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy OMIM:619063
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Postnatal growth retardation, Metaphyseal widening, Dysphagia, Triangular shaped di... ORPHA:73230
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Atelectasis, Hypersensitivity pneumonitis, Leukocytosi... ORPHA:2902
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... ORPHA:254361
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Waardenburg Syndrome Type 3
Camptodactyly of finger, Joint stiffness, Atelectasis, Abnormal finger morphology, Cutaneous fing... ORPHA:896
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Polycythemia Vera
Myelofibrosis, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Portal vein thromb... ORPHA:729
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Accessory spleen, Sandal gap, Atelectasis, Rectal prolapse, Recurrent p... OMIM:613177
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Arthritis, Recurrent lower respiratory tract infections, Anemia OMIM:620321
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis OMIM:239000
Asbestos Intoxication
Atelectasis, Pleural thickening, Mediastinal lymphadenopathy, Abnormal pulmonary interstitial mor... ORPHA:2302
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... ORPHA:77297
Alg6-Cdg
Jaundice, Shortening of all distal phalanges of the fingers, Macroglossia, Abnormality of the liv... ORPHA:79320
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Limitation of joint mobility, Flexion contracture, Hip dislocation, Emphysema ORPHA:171719
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Clubbing, Bronchiectasis, Weight loss,... ORPHA:79127
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Brachydactyly, Hypoplastic scapulae, Intestinal malrotation, Hamartoma of tongue, B... OMIM:269860
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Steatorrhea... ORPHA:2070
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J... ORPHA:79303
Farber Disease
Short stature, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmonary HRCT... ORPHA:333
Werner Syndrome
Increased bone mineral density, Joint stiffness, Insulin resistance, Osteoporosis, Type II diabet... ORPHA:902
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto... ORPHA:1572
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Cholestasis, Protein-losing enteropathy, Camptodactyly, Neonatal ... OMIM:608104
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... OMIM:242700
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Atelectasis, Mediastinal lymphadenopathy, Leukocytosis, Abnormal pulmonary intersti... OMIM:620233
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Clubbing of... OMIM:175500
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Abnormal phalange... ORPHA:90291
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Camurati-Engelmann Disease
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... OMIM:131300
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis, Weight loss ORPHA:1164
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, High palate, Arachnodactyly, Repea... ORPHA:536467
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Surfactant Metabolism Dysfunction, Pulmonary, 3
Failure to thrive, Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on p... OMIM:610921
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Pericardial lymphangiectasia, Mild postnatal growth retardation, Thyroid lymphangiect... OMIM:235510
Pancreatic Colipase Deficiency
Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine panc... ORPHA:309108
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Emphysema, Short stature, Portal hypertension OMIM:210050
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Agenesis of pulmonary vessels, Alveolar capillary dysplasia,... OMIM:601186
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... ORPHA:2314
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... OMIM:615710
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis, High palate, Joint hypermobility OMIM:300219
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... OMIM:174900
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Gray Platelet Syndrome
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Leukopenia, Colitis, Bone marrow hypocellulari... OMIM:615190
Scedosporiosis
Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Pleural empyema, Pulmonary fibrosis, ... ORPHA:449280
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Gastrointestinal hemorrhage, Increased RBC distribution width, Macrothrombocytopen... OMIM:187900
Whim Syndrome
Abnormal small intestine morphology, Pneumonia, Respiratory tract infection, Atelectasis, Lymphad... ORPHA:51636
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Arachnodactyly, Hip dislocation OMIM:614100
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Osteoporosis OMIM:615954
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... ORPHA:811
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... ORPHA:79319
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Severe short stature, Small for gestational age, Sandal gap, Em... OMIM:616835
Poems Syndrome
Sclerosis of hand bone, Sclerosis of skull base, Diabetes mellitus, Sclerosis of foot bone ORPHA:2905
12Q14 Microdeletion Syndrome
Osteopoikilosis, Diabetes mellitus ORPHA:94063
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Meconium Aspiration Syndrome
Atelectasis, Pneumothorax, Aspiration pneumonia, Intrauterine growth retardation ORPHA:70588
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Short stature, Cachexia, High, narrow palate, Rec... ORPHA:79076
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Emphysema, Hepatitis, Jaundice ORPHA:60
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis ORPHA:94089
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Osteomyelitis, Liver abscess, Atelectasis, Lymphadenitis, Recurrent pneumonia, Sple... OMIM:306400
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Zygomycosis
Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Neutropenia, Atelectasis... ORPHA:73263
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Reduced bone mineral density, High palate, Gastroesophageal reflux, Emphysema, Hepati... OMIM:613658
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Abnormal lung morphology, Abnormal lung lobatio... ORPHA:141127
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Short stature, Splenomegaly, Elbow flexion contracture, ... OMIM:618440
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Osteolytic defects of t... OMIM:161700
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis OMIM:259720
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema ORPHA:70587
Meier-Gorlin Syndrome 4
Short stature, Patellar aplasia, Birth length less than 3rd percentile, Slender long bone, Intrau... OMIM:613804
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Failure to thrive, Congenital hip dislocation, Short stature, Postnatal growth retardation, Gener... ORPHA:357074
Fanconi Renotubular Syndrome 5
Genu valgum, Pulmonary fibrosis, Hypophosphatemic rickets, Emphysema, Lung adenocarcinoma OMIM:618913
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Postaxial hand polydactyl... OMIM:200995
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... OMIM:181000
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Weight loss ORPHA:103910
Meier-Gorlin Syndrome 1
Flexion contracture, Flat glenoid fossa, Cutaneous finger syndactyly, High palate, Gastroesophage... OMIM:224690
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Spontaneous pneumothorax, Protein-losing enteropathy OMIM:618154
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia, An... OMIM:620365
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Diabetes mellitus, Insulin-resistant diab... ORPHA:79474
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... ORPHA:552
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Hypoplastic spleen, Anemia OMIM:185070
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Pearson Syndrome
Reticulocytosis, Hepatomegaly, Pancytopenia, Small for gestational age, Pancreatic fibrosis, Post... ORPHA:699
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Decreased body weight, Protruding tongue, Atelectasis, Flexion contracture, Macroglossia, Lissenc... ORPHA:258
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... ORPHA:90652
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... OMIM:610978
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Joint laxity, Short stature, Large for gestational age, High palate, Failure to th... OMIM:607721
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Postaxial hand polydactyly, Pancreatic ... ORPHA:1655
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, ... OMIM:618278
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis ORPHA:33364
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis OMIM:604571
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation OMIM:259775
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones OMIM:127000
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Tarp Syndrome
Finger syndactyly, Failure to thrive, Extramedullary hematopoiesis, Rocker bottom foot, Postaxial... ORPHA:2886
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Postaxial hand polydactyly, Pancreatic lymp... OMIM:235255
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... ORPHA:355
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis ORPHA:35687
22Q11.2 Deletion Syndrome
Anorectal anomaly, Abnormal lung lobation, Gastroesophageal reflux, Hypoplasia of the thymus, Sho... ORPHA:567
Pseudohypoparathyroidism Type 1A
Hyperostosis frontalis interna, Ectopic ossification, Increased bone mineral density, Reduced bon... ORPHA:79443
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Severe short stature, Pyloric stenosis, Wide anterior fontanel, Pneumothorax, Recur... ORPHA:90349
Congenital Tracheomalacia
Pneumonia, Esophageal atresia, Tracheobronchomalacia, Pneumothorax, Partial anomalous pulmonary v... ORPHA:95430
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arthritis, Gastroesophage... ORPHA:779
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density ORPHA:79444
Desmosterolosis
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita OMIM:602398
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Pneumothorax, Abnorma... ORPHA:538
Cog8-Cdg
Failure to thrive, Protein-losing enteropathy ORPHA:95428
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Short stature, Osteomalacia, Recurrent fractures, Joint stiffne... ORPHA:534
Lujo Hemorrhagic Fever
Stiff neck, Atelectasis, Odynophagia, Fulminant hepatitis, Leukocytosis, Leukopenia, Dysphagia, L... ORPHA:319213
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary artery stenosis, Partial anomalou... OMIM:265380
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi... ORPHA:512
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Respiratory tract infection, Atelectasis, Flexion contracture, Osteoporosis, Macrog... ORPHA:365
Relapsing Polychondritis
Chondritis of pinna, Atelectasis, Limitation of joint mobility, Hepatitis, Anteriorly placed anus... ORPHA:728
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Digeorge Syndrome
Short stature, Atelectasis, High, narrow palate, Recurrent pneumonia, Thrombocytopenia, Obesity, ... OMIM:188400
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Bronchiectasis, Small bo... ORPHA:90348
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Viss Syndrome
Chronic gastritis, High, narrow palate, Generalized joint laxity, High palate, Gastroesophageal r... OMIM:619472
Wrinkly Skin Syndrome
Osteopenia, Recurrent sinopulmonary infections, Congenital hip dislocation, Short stature, Postna... ORPHA:2834
Sarcoidosis
Abnormal lung morphology, Increased T cell count, Leukopenia, Emphysema, Hemolytic anemia, Hepato... ORPHA:797
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Osteoporosis, Joint hy... ORPHA:904
Chand Syndrome
Short fifth metatarsal, Atelectasis, Bifid tongue, Cleft palate ORPHA:1401
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density ORPHA:667
Keutel Syndrome
Calcification of the auricular cartilage, Recurrent bronchitis, Short hallux, Premature fusion of... OMIM:245150
Fraser Syndrome 1
Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Abnormal cortical gyration,... OMIM:219000
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint laxity, Arachnodactyly, Intestinal malrotation, Hiatus hernia, Generalized joint laxity, Pn... OMIM:601776
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lymphocytosis, El... OMIM:619991
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Pleural effusion, Recurrent upper respiratory tract infections, Protein-losing ente... OMIM:618183
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Increased density of long bones, Thickened cortex 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.

Order Mouse and ES Cells

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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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