Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transducer of ERBB2, 2
Synonyms:
4930545K18Rik,  2900090N22Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tob2 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 Tob2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acroosteolysis
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes OMIM:102400
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Osteoporosis
Osteoporosis OMIM:166710
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteolysis OMIM:228600
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Osteoporosis, ... ORPHA:100024
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis OMIM:277950
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility OMIM:259690
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Osteolysis ORPHA:158014
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hypermobility ORPHA:2787
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Osteolysis ORPHA:2028
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615267
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Familial Hyperprolactinemia
Osteoporosis, Osteopenia ORPHA:397685
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Osteolysis involving bones... ORPHA:73
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Isolated Glycerol Kinase Deficiency
Osteoporosis ORPHA:408
Talo-Patello-Scaphoid Osteolysis
Synovitis, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae ORPHA:50809
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures ORPHA:2410
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Osteosarcoma
Pathologic fracture, Osteolysis ORPHA:668
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Ollier Disease
Anemia, Joint stiffness, Osteolysis ORPHA:296
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Limitation of joint mobility, Carpal osteolysis, Camptodactyly of finger, Metacarpal osteolysis, ... ORPHA:2774
Ramon Syndrome
Osteolysis ORPHA:3019
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Osteoporosis, Eosinophilia OMIM:620532
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612287
Aggressive Systemic Mastocytosis
Pathologic fracture, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Pancytopenia, ... ORPHA:98850
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Osteopenia OMIM:615266
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Joint hypermobility OMIM:616033
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Localized osteoporosis, Joint stiffness, Joint hemorrhage, Osteolysis ORPHA:66627
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Osteolysis, Splenomegaly ORPHA:391
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:614880
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Osteoporosis, Abnormal mast... ORPHA:98848
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Osteomyelitis, Abscess, Splenomegaly, Neutrophilia, Osteolysis, Fused ce... OMIM:612852
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, A... ORPHA:93160
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612286
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving tarsal bones, Increased susceptibility to fra... ORPHA:371428
Thrombocytopenia 6
Osteoporosis, Myelofibrosis, Thrombocytopenia OMIM:616937
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... ORPHA:79106
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Recurrent fractures OMIM:126550
Prieto Syndrome
Osteoporosis OMIM:309610
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Splenomegaly ORPHA:79301
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Thrombocytopenia, Joint hypermobility OMIM:614727
Juvenile Paget Disease
Osteoporosis, Coarse metaphyseal trabecularization, Recurrent fractures, Cranial hyperostosis ORPHA:2801
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Hyperzincemia With Functional Zinc Depletion
Osteoporosis OMIM:601979
Diabetes Insipidus, Neurohypophyseal
Osteopenia OMIM:125700
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones OMIM:617974
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Arthritis, Anemia, Osteolysis ORPHA:324964
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Osteolysis, Osteoarthritis ORPHA:1657
Frank-Ter Haar Syndrome
Joint stiffness, Osteolysis, Camptodactyly of finger ORPHA:137834
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Infantile Myofibromatosis
Limitation of joint mobility, Bone cyst, Osteolysis ORPHA:2591
Felty Syndrome
Bone marrow hypocellularity, Limitation of joint mobility, Abnormal lymphocyte morphology, Spleno... ORPHA:47612
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Increased susceptibility to fractures, Oste... OMIM:602080
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Analbuminemia
Osteoporosis OMIM:616000
Bruck Syndrome 1
Ankle flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures, Knee... OMIM:259450
Bruck Syndrome
Osteoporosis, Joint stiffness, Arthrogryposis multiplex congenita, Recurrent fractures ORPHA:2771
Perrault Syndrome 1
Osteoporosis OMIM:233400
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Increased susceptibility to fractures, Osteolysis, Calvarial hyperostosis ORPHA:52430
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Hjv Or Hamp-Related Hemochromatosis
Osteoporosis ORPHA:79230
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Osteopenia, Fractures of the long bones ORPHA:319195
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Osteogenesis Imperfecta, Type Xii
Hypermobility of interphalangeal joints, Osteoporosis, Generalized osteoporosis, Recurrent fractu... OMIM:613849
Sialidosis Type 2
Osteoporosis, Flexion contracture, Splenomegaly ORPHA:87876
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia ORPHA:369
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Mucolipidosis Type Iii Alpha/Beta
Joint stiffness, Generalized osteoporosis, Flexion contracture, Osteolysis ORPHA:423461
Gaucher Disease Type 1
Splenic infarction, Osteopenia, Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplen... ORPHA:77259
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Camptodactyly of finger, Camptodactyly of toe, Knee osteoarthritis, ... ORPHA:2848
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Finger joint contracture, Flexion contracture of toe ORPHA:48431
Nestor-Guillermo Progeria Syndrome
Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, Osteoporosis... OMIM:614008
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Osteopenia, Increased susceptibility to fractures, Joint hypermobility ORPHA:2788
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Osteopenia ORPHA:529665
Mycetoma
Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Osteoporosis, Bone cyst, Ab... ORPHA:2583
Pseudopseudohypoparathyroidism
Osteoporosis OMIM:612463
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility OMIM:600118
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Delayed ossification of carpal bones OMIM:618392
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Osteoporosis OMIM:616006
Hall-Riggs Syndrome
Osteoporosis OMIM:234250
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Increased circulating IgE level, Osteoporosis, Recurrent fractures, Flex... ORPHA:3409
Cranioectodermal Dysplasia
Osteoporosis, Craniosynostosis, Joint hypermobility ORPHA:1515
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Limitation of joint mobility, Osteoarthritis, Synostosis of carpal bones ORPHA:93351
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Immunodeficiency 12
Osteoporosis, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:615468
Progressive Pseudorheumatoid Dysplasia
Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteopor... OMIM:208230
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Osteoporosis, Bone-marrow foam cells OMIM:257200
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Osteolysis, Arthritis ORPHA:220393
Pachydermoperiostosis
Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Splenomegaly, Art... ORPHA:2796
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Hyperostosis frontalis interna, Osteoarthritis ORPHA:77296
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Recurrent fractures, Joint hypermobility OMIM:619131
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Joint stiffness, Leukopenia, Splenomegaly, Joint hy... OMIM:620210
Mandibuloacral Dysplasia With Type A Lipodystrophy
Limitation of joint mobility, Acroosteolysis of distal phalanges (feet), Osteolytic defects of th... ORPHA:90153
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density OMIM:619489
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia ORPHA:99879
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia OMIM:615830
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Reduced bone mineral density, Recurrent fractures OMIM:620639
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Symmetric polyarthritis, Synovitis, Arthritis, Reduced ... ORPHA:85435
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibrous dysplasia of the bones... ORPHA:249
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Recurrent fractures, Thin bony cortex, Joint hypermobility OMIM:617952
Sapho Syndrome
Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Arthrit... ORPHA:793
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Elbow flexion contracture, Knee flexion contracture, Camptodactyly... OMIM:214150
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof... OMIM:231095
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Thin bony cortex OMIM:265900
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Hyperparathyroidism 4
Osteopenia OMIM:617343
Mixed Connective Tissue Disease
Leukopenia, Joint stiffness, Splenomegaly, Arthritis, Hemolytic anemia, Osteolysis ORPHA:809
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis OMIM:615954
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Splenomegaly ORPHA:172
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... ORPHA:90154
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... OMIM:618849
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Osteolytic defects of the phalanges of the hand, Arthri... OMIM:259100
Spondyloepiphyseal Dysplasia, Maroteaux Type
Generalized osteoporosis, Small joint hypermobilty OMIM:184095
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Increased susceptibility to fra... ORPHA:98849
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Joint hypermobility, Limitation of knee mobility, Osteoporosis, R... OMIM:614856
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Osteoporosis OMIM:606054
Amish Lethal Microcephaly
Osteoporosis, Limitation of joint mobility, Decreased skull ossification ORPHA:99742
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:600081
Classic Galactosemia
Osteoporosis, Abnormal erythrocyte enzyme concentration or activity, Reduced bone mineral density ORPHA:79239
Menkes Disease
Osteoporosis, Joint hypermobility OMIM:309400
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis ORPHA:1901
Spondylo-Ocular Syndrome
Osteoporosis, Joint hypermobility ORPHA:85194
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures ORPHA:2235
Rhyns Syndrome
Osteoporosis, Osteopenia OMIM:602152
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia OMIM:219080
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytop... OMIM:613989
Gaucher Disease Type 3
Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Increased circulating antibody... ORPHA:77261
Porphyria, Congenital Erythropoietic
Osteopenia, Joint contracture of the hand, Pathologic fracture, Splenomegaly, Thrombocytopenia, R... OMIM:263700
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Osteoporosis ORPHA:785
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Osteopenia OMIM:610475
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Refractory Celiac Disease
Normocytic anemia, Microcytic anemia, Abnormal spleen physiology, Macrocytic anemia, Increased pr... ORPHA:398063
Coxoauricular Syndrome
Reduced bone mineral density ORPHA:1508
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi... OMIM:259600
H Syndrome
Osteolysis, Microcytic anemia, Hepatosplenomegaly, Camptodactyly, Histiocytosis, Recurrent fractures ORPHA:168569
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased susceptibility to f... ORPHA:2176
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Osteolysis, Liver abscess ORPHA:678
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Osteoporosis OMIM:612562
Geroderma Osteodysplastica
Osteoporosis, Recurrent fractures, Abnormal bone ossification, Joint hypermobility ORPHA:2078
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Joint contracture OMIM:615381
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia, Osteoporosis ORPHA:2169
Kaposiform Lymphangiomatosis
Fractures of the long bones, Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thromb... ORPHA:464329
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Peroxisome Biogenesis Disorder 3B
Osteoporosis OMIM:266510
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Recurrent fractures, Thin bony cortex, Multiple prenatal fractures OMIM:619795
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteoporosis, Osteopenia, Bicoronal synostosis, Joint hypermobility OMIM:619718
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Localized osteoporosis ORPHA:199354
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Osteogenesis Imperfecta, Type Iii
Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Severe generalized o... OMIM:259420
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Thrombocytopenia, Osteolysis, Ost... ORPHA:464321
Odontochondrodysplasia 1
Osteoporosis, Delayed ossification of carpal bones, Joint hypermobility OMIM:184260
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ... OMIM:241530
Nasu-Hakola Disease
Limitation of joint mobility, Acute leukemia, Reduced bone mineral density, Bone cyst ORPHA:2770
Perrault Syndrome 4
Osteoporosis OMIM:615300
Osteogenesis Imperfecta, Type Xvii
Osteoporosis, Reduced bone mineral density, Recurrent fractures, Joint hypermobility OMIM:616507
Dyskeratosis Congenita, Autosomal Dominant 3
Osteopenia, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic an... OMIM:613990
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Osteoporosis of vertebrae OMIM:156510
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Joint hypermobility, Cervical C2/C3 vertebral fusion, Generalized joint hypermobility... OMIM:618000
Hemochromatosis, Type 1
Osteoporosis, Splenomegaly OMIM:235200
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Osteoporosis, Limitation of joint mobility OMIM:236200
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Osteoporosis OMIM:616200
Werner Syndrome
Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density OMIM:277700
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent fractures OMIM:239000
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Generalized bone demineralization, Abnormal T cell morphology OMIM:215250
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Cantu Syndrome
Osteoporosis OMIM:239850
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Subcutaneous ossification OMIM:103580
Familial Dysautonomia
Recurrent fractures, Osteolysis ORPHA:1764
Richards-Rundle Syndrome
Joint stiffness, Reduced bone mineral density ORPHA:1399
Hepatoerythropoietic Porphyria
Osteopenia, Erythroid hyperplasia, Splenomegaly, Osteoporosis, Hemolytic anemia, Osteolysis ORPHA:95159
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contracture OMIM:620232
Gaucher Disease
Splenic infarction, Osteopenia, Pathologic fracture, Osteomyelitis, Joint stiffness, Recurrent fr... ORPHA:355
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Shoulder flexion contracture, Hip contracture, Wrist flexion contr... OMIM:255800
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Osteoporosis OMIM:224230
Erdheim-Chester Disease
Anemia, Increased bone mineral density, Osteolysis, Osteomyelitis ORPHA:35687
Pontocerebellar Hypoplasia, Type 2E
Osteoporosis, Flexion contracture OMIM:615851
Geroderma Osteodysplasticum
Osteopenia, Increased susceptibility to fractures, Camptodactyly, Osteoporosis, Recurrent fractur... OMIM:231070
Desbuquois Dysplasia 1
Joint hypermobility, Osteoarthritis, Advanced ossification of carpal bones, Osteoporosis, Advance... OMIM:251450
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... OMIM:127550
19P13.3 Microduplication Syndrome
Osteoporosis ORPHA:447980
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteoporosis, Osteopenia OMIM:610489
Xp21 Deletion Syndrome
Osteoporosis, Reduced bone mineral density, Joint hypermobility ORPHA:261476
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cranial hyperostosis, Joint stiffness, Hepatosplenomegaly, Pancytopenia, Joint hyperm... ORPHA:309282
Congenital Erythropoietic Porphyria
Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Throm... ORPHA:79277
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... OMIM:300009
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis ORPHA:73272
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Pseudohypoparathyroidism, Type Ic
Osteoporosis OMIM:612462
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteoporosis, Osteopenia, Flexion contracture, Elbow flexion contracture OMIM:614438
Hajdu-Cheney Syndrome
Osteopenia, Coarse metaphyseal trabecularization, Recurrent fractures, Splenomegaly, Decreased sk... ORPHA:955
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:277440
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Leukocytosis, Increas... ORPHA:289157
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Osteoporosis OMIM:615398
Lowry-Maclean Syndrome
Osteoporosis, Osteopenia, Craniosynostosis ORPHA:2409
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Osteoporosis OMIM:617190
Celiac Disease, Susceptibility To, 1
Rickets, Decreased circulating IgA level, Macrocytic anemia, Iron deficiency anemia, Thrombocytos... OMIM:212750
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Osteoporosis, Laryngotracheomalacia, Reduced bone mineral density, Abnorm... ORPHA:94068
Phakomatosis Pigmentovascularis
Reduced bone mineral density ORPHA:2875
Incontinentia Pigmenti
Spina bifida occulta, Eosinophilia, Osteolysis, Camptodactyly of finger ORPHA:464
Congenital Myopathy 22A, Classic
Osteoporosis, Achilles tendon contracture, Hip contracture, Congenital finger flexion contractures OMIM:620351
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Osteolysis ORPHA:2396
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Iron deficiency anemia, Rickets, Osteomalacia ORPHA:309031
Occipital Horn Syndrome
Synostosis of joints, Osteopenia, Rickets, Osteomalacia, Joint hypermobility, Osteoporosis, Osteo... ORPHA:198
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Decreased circulating IgA level, Splenomegaly, Osteoporosis, Flexion contracture OMIM:613327
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Reduced bone mine... ORPHA:848
Cryptococcosis
Osteomyelitis, Lymphoid leukemia, Osteolysis ORPHA:1546
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Anemia, Flexion contracture, Bone cyst, Osteolysis ORPHA:3042
Functioning Gonadotropic Adenoma
Osteoporosis, Osteopenia ORPHA:91348
Chikungunya
Periostitis, Joint stiffness, Synovitis, Arthritis, Enthesitis, Stiff interphalangeal joints, Ost... ORPHA:324625
Coccidioidomycosis
Granuloma, Osteomyelitis, Abnormality of the spleen, Abscess, Eosinophilia, Arthritis, Increased ... ORPHA:228123
Progressive Pseudorheumatoid Arthropathy Of Childhood
Joint contracture of the hand, Limitation of joint mobility, Camptodactyly, Generalized osteoporo... ORPHA:1159
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Dietary Iron Overload Disease
Osteoporosis ORPHA:139507
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint stiffness, Splenomegaly, Arthritis, Osteoporosis, Stiff interphalangeal joints ORPHA:465508
Kallmann Syndrome-Heart Disease Syndrome
Osteoporosis, Osteopenia ORPHA:2326
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Reduced bone mineral density, Recurrent fractures, Joint hypermobility OMIM:619115
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteoporosis, Osteopenia, Camptodactyly, Generalized joint hypermobility ORPHA:432
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Irregular tarsal ossification, Ivory epiphyses of the phalanges of the hand OMIM:226980
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bone marrow hypocellularity, Pathologic fracture, Increased susceptibility to fractur... OMIM:612199
Cole-Carpenter Syndrome 1
Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Reduced bone mineral density, Rec... OMIM:112240
Brittle Cornea Syndrome
Camptodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hypermobility ORPHA:90354
Mucopolysaccharidosis, Type Iva
Osteoporosis, Joint hypermobility OMIM:253000
Nail-Patella Syndrome
Proximal finger joint hyperextensibility, Elbow flexion contracture, Contracture of the distal in... ORPHA:2614
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Joint stiffness, Joint hypermobility OMIM:253010
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
X Small Rings
Osteoporosis, Reduced bone mineral density, Joint hypermobility ORPHA:96201
Craniofaciofrontodigital Syndrome
Osteoporosis, Osteopenia, Finger joint hypermobility, Joint hypermobility ORPHA:363705
Neu-Laxova Syndrome
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Flexion contracture, Arthrogryposis multiplex co... ORPHA:2671
Macs Syndrome
Osteoporosis, Joint hypermobility OMIM:613075
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Abn... ORPHA:3206
Werner Syndrome
Osteoporosis, Joint stiffness, Increased bone mineral density ORPHA:902
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia, Osteoporosis, Recurrent fra... OMIM:222700
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... OMIM:608612
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Microcytic anemia, Multiple joint contractures, Generalized osteoporosis, T lymphocyt... ORPHA:2959
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Generalized osteoporosis, Osteopenia, Elbow flexion contracture, Joint hypermobility, Radioulnar ... OMIM:245600
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis OMIM:219090
46,Xx Gonadal Dysgenesis
Osteopenia, Osteoporosis of vertebrae, Reduced bone mineral density ORPHA:243
Adrenomyodystrophy
Reduced bone mineral density ORPHA:977
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Osteolysis ORPHA:1052
Farber Disease
Hepatosplenomegaly, Arthritis, Thrombocytopenia, Anemia, Osteoporosis, Flexion contracture ORPHA:333
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Increased susceptibility to fra... ORPHA:2909
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Elbow flexion contracture, Generalized joint hypermobility, Joint hypermobility, Oste... ORPHA:1900
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Recurrent fractures, Thin bony cortex, Hyperextensibility of the finger joints OMIM:309583
Chime Syndrome
Acute leukemia, Osteolysis ORPHA:3474
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia ORPHA:157215
Glycogen Storage Disease Ib
Osteoporosis, Gout, Splenomegaly, Neutropenia OMIM:232220
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Osteoporosis ORPHA:91
Cleidocranial Dysplasia
Spina bifida occulta, Osteoporosis, Recurrent fractures, Decreased skull ossification ORPHA:1452
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Elbow flexion contracture, Joint stiffness, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Osteoporosis, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:300998
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Anemia, Osteoporosis, Splenomegaly ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Anemia, Osteoporosis, Abnormal erythrocyte enzyme concentration or activity, Splenomegaly ORPHA:264580
Cantú Syndrome
Osteoporosis ORPHA:1517
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Joint contracture, Osteoporosis, Osteolytic defects of the distal ... OMIM:601812
Zygomycosis
Splenic abscess, Brain abscess, Osteolysis, Neutropenia ORPHA:73263
Glycogen Storage Disease Ia
Osteoporosis, Gout OMIM:232200
Aicardi-Goutieres Syndrome 9
Anemia, Osteoporosis, Hepatosplenomegaly, Hemolytic anemia OMIM:619487
Dent Disease
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... ORPHA:1652
Cerebrotendinous Xanthomatosis
Osteoporosis OMIM:213700
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... OMIM:166220
Sim1-Related Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia ORPHA:398079
Lathosterolosis
Osteoporosis, Anisopoikilocytosis OMIM:607330
Dyskeratosis Congenita
Bone marrow hypocellularity, Coarse metaphyseal trabecularization, Splenomegaly, Thrombocytopenia... ORPHA:1775
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Pathologic fracture, Synostosis... ORPHA:221016
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Osteoporosis, Increased susceptibility to fractures ORPHA:189427
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Joint hypermobility, Oste... OMIM:259770
Stuve-Wiedemann Syndrome 1
Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Thickened cortex of lon... OMIM:601559
Hajdu-Cheney Syndrome
Osteopenia, Foot acroosteolysis, Pathologic fracture, Joint hypermobility, Osteolytic defects of ... OMIM:102500
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Finger symphalangism, Anemia, N... ORPHA:221008
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tracheomalacia, Multiple joint contractures, Joint hypermobility, Radioulnar synostos... ORPHA:536467
Magel2-Related Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia, Flexion contracture ORPHA:398069
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia, Reduced bone mineral density ORPHA:935
Prolactinoma
Osteoporosis, Osteopenia ORPHA:2965
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Osteoporosis, Joint stiffness, Recurrent fractures ORPHA:394
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neut... ORPHA:391487
Glass Syndrome
Camptodactyly, Generalized osteoporosis OMIM:612313
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteoporosis, Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger ORPHA:2232
Frank-Ter Haar Syndrome
Osteopenia, Cortical irregularity, Camptodactyly, Osteoporosis, Wide anterior fontanel OMIM:249420
Lysinuric Protein Intolerance
Osteopenia, Hemophagocytosis, Pathologic fracture, Hepatosplenomegaly, Leukopenia, Increased circ... ORPHA:470
Prader-Willi Syndrome
Osteoporosis, Osteopenia, Increased susceptibility to fractures ORPHA:739
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteoporosis, Osteopenia ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteoporosis, Osteopenia ORPHA:98793
Primary Biliary Cholangitis
Osteoporosis, Increased circulating IgA level, Splenomegaly, Increased circulating IgM level ORPHA:186
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteoporosis, Osteopenia ORPHA:177904
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Osteopenia, Gout, Increased susceptibility to fractures, A... ORPHA:79259
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteoporosis, Osteopenia ORPHA:177901
Multiple Endocrine Neoplasia Type 1
Increased susceptibility to fractures, Reduced bone mineral density, Osteolysis ORPHA:652
Prader-Willi Syndrome
Osteoporosis, Osteopenia OMIM:176270
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Joint stiffness, Hip contracture, Wrist flexion contracture, Osteop... ORPHA:800
Tbck-Related Intellectual Disability Syndrome
Osteoporosis ORPHA:488632
Menkes Disease
Osteomyelitis, Joint hypermobility, Osteoporosis, Tarsal synostosis, Recurrent fractures ORPHA:565
17Q11 Microdeletion Syndrome
Osteopenia, Thickened cortex of long bones, Leukemia, Osteoporosis, Osteolysis ORPHA:97685
Occipital Horn Syndrome
Limited elbow extension, Joint hypermobility, Limited knee extension, Capitate-hamate fusion, Ost... OMIM:304150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteoporosis, Osteopenia, Joint hypermobility OMIM:225400
Glycerol Kinase Deficiency
Pathologic fracture, Osteoporosis OMIM:307030
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Pathologic fracture, Joint hypermobility, Delayed proximal femoral epiphyseal ... OMIM:271640
Primary Sclerosing Cholangitis
Osteopenia, Hepatosplenomegaly, Splenomegaly, Polyclonal elevation of IgM, Osteoporosis ORPHA:171
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Osteoporosis, Reduced bone mineral density ORPHA:168558
X-Linked Intellectual Disability, Snyder Type
Camptodactyly, Osteoporosis, Recurrent fractures ORPHA:3063
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:305000
Wilson Disease
Osteomalacia, Splenomegaly, Joint hypermobility, Osteoarthritis, Thrombocytopenia, Anemia, Osteop... OMIM:277900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Osteoporosis, Reduced bone mineral density ORPHA:289548
Autosomal Dominant Progressive External Ophthalmoplegia
Osteoporosis ORPHA:254892
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Elbow flexion contracture, Multiple joint contractures, Increased susceptibility to f... ORPHA:536471
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Pathologic fracture, Hypersplenism, Splenomegaly, Thrombocytopenia, Acute promyelocyt... ORPHA:77293
Osteogenesis Imperfecta
Osteopenia, Fractures of the long bones, Abnormal cortical bone morphology, Increased susceptibil... ORPHA:666
Cystic Fibrosis
Osteoporosis, Osteopenia ORPHA:586
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Osteoporosis, Tracheomalacia OMIM:203700
Rothmund-Thomson Syndrome, Type 2
Osteoporosis OMIM:268400
Hypermobile Ehlers-Danlos Syndrome
Limitation of joint mobility, Osteolysis, Osteoarthritis, Joint hypermobility ORPHA:285
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteoporosis, Osteopenia, Joint hypermobility ORPHA:536545
Cerebrotendinous Xanthomatosis
Osteoporosis, Osteopenia, Increased susceptibility to fractures ORPHA:909
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Osteoporosis, Reduced bone mineral density ORPHA:90796
Atypical Werner Syndrome
Limitation of joint mobility, Sclerosis of hand bone, Osteolytic defects of the phalanges of the ... ORPHA:79474
Congenital Disorder Of Deglycosylation 1
Osteoporosis OMIM:615273
Cockayne Syndrome B
Osteoporosis, Limitation of joint mobility, Ivory epiphyses of the phalanges of the hand, Splenom... OMIM:133540
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Foot joint contracture, Iron deficiency anemia, Anemia, Osteoporosis, Flexion contrac... ORPHA:79408
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis ORPHA:99880
Dpagt1-Cdg
Camptodactyly, Osteoporosis, Flexion contracture, Anemia ORPHA:86309
Marfan Syndrome
Osteopenia, Limited elbow movement, Joint hypermobility, Arthralgia/arthritis, Osteoporosis, Redu... ORPHA:558
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Abnormally ossified vertebrae ORPHA:2636
Parathyroid Carcinoma
Osteoporosis ORPHA:143
Cushing Disease
Osteoporosis, Lymphopenia, Leukocytosis, Decreased eosinophil count ORPHA:96253
Cranioectodermal Dysplasia 1
Osteoporosis, Sagittal craniosynostosis, Joint hypermobility OMIM:218330
Glycogen Storage Disease Due To Acid Maltase Deficiency
Osteoporosis, Flexion contracture ORPHA:365
Tsh-Secreting Pituitary Adenoma
Osteoporosis, Osteopenia ORPHA:91347
Microcephalic osteodysplastic primordial dwarfism, type III
Severe generalized osteoporosis, Knee flexion contracture, Hip contracture OMIM:210730
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Thrombocytopenia, Anemia, Osteoporosis OMIM:619525
Wolf-Hirschhorn Syndrome
Osteoporosis ORPHA:280
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Joint hypermobility, Knee osteoarthritis, Osteoarthritis of the small jo... ORPHA:284984
Hardikar Syndrome
Hepatosplenomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Osteoporosis OMIM:301068
Severe Generalized Junctional Epidermolysis Bullosa
Anemia, Osteoporosis ORPHA:79404
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Lower-limb joint contracture, Osteoporosis ORPHA:459070
46,Xy Partial Gonadal Dysgenesis
Osteoporosis ORPHA:251510
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Joint hypermobility, Camptodactyly, Osteoporosis, Craniosynostosis OMIM:610168
Pseudoaminopterin Syndrome
Synostosis of carpal bones, Limited elbow movement, Sagittal craniosynostosis, Patchy reduction o... ORPHA:221120
Hutchinson-Gilford Progeria Syndrome
Limitation of joint mobility, Limited hip movement, Joint stiffness, Limitation of movement at an... ORPHA:740
Vascular Ehlers-Danlos Syndrome
Osteolysis, Osteoarthritis, Joint hypermobility ORPHA:286
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteoporosis, Osteopenia, Anemia, Joint hypermobility ORPHA:438213
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteoporosis, Osteopenia, Reduced bone mineral density ORPHA:99413
Turner Syndrome
Osteoporosis, Osteopenia, Reduced bone mineral density ORPHA:881
Mosaic Monosomy X
Osteoporosis, Osteopenia, Reduced bone mineral density ORPHA:99228
Monosomy X
Osteoporosis, Osteopenia, Reduced bone mineral density ORPHA:99226
Loeys-Dietz Syndrome 3
Osteopenia, Hip osteoarthritis, Joint hypermobility, Knee osteoarthritis, Osteoarthritis, Camptod... OMIM:613795
Singleton-Merten Syndrome 1
Osteoporosis, Osteopenia, Osteolytic defects of the phalanges of the hand OMIM:182250
Primrose Syndrome
Generalized osteoporosis, Hip contracture, Joint hypermobility, Knee flexion contracture, Osteopo... OMIM:259050
Williams Syndrome
Synostosis of joints, Osteopenia, Joint stiffness, Joint hypermobility, Spina bifida occulta, Rad... ORPHA:904
Cushing Syndrome Due To Ectopic Acth Secretion
Osteoporosis, Lymphopenia, Leukocytosis, Decreased eosinophil count ORPHA:99889
Williams-Beuren Syndrome
Osteopenia, Joint hypermobility, Radioulnar synostosis, Osteoporosis, Flexion contracture OMIM:194050
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Joint hypermobility, Impaired neutrophil chemotaxis, Ost... ORPHA:79318

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 Tob2

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 Tob2.

No publications found that use IMPC mice or data for Tob2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tob2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tob2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tob2em1(IMPC)Ccpcz Whole-gene deletion Mice
Tob2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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