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Gene: Sost MGI:1921749

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sclerostin
Synonyms:
5430411E23Rik

Order Alleles

IMPC Data Collections

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

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.

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 Sost 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.

The table below shows human diseases predicted to be associated to Sost by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... OMIM:615198
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... ORPHA:79106
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, Thickened cortex of long bones ORPHA:53697
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... ORPHA:566943
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... ORPHA:2204
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Tall stature OMIM:618406
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... ORPHA:166119
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Osseous Heteroplasia, Progressive
Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Mazabraud Syndrome
Fibrous dysplasia of the bones, Recurrent fractures ORPHA:57782
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Lethal Recessive Chondrodysplasia
Micromelia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, Limb undergrowth ORPHA:1423
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e... OMIM:265900
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ... OMIM:617974
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... OMIM:144750
Osteoporosis
Osteoporosis OMIM:166710
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... ORPHA:2501
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... ORPHA:1310
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Joint stiffness, Abnormal encho... ORPHA:2635
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... ORPHA:1525
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... ORPHA:1952
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... OMIM:619795
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna OMIM:231095
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Chondrodysplasia, Blomstrand Type
Micromelia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Advanced ossifica... OMIM:215045
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300554
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:241530
Ck Syndrome
Abnormal cortical bone morphology, Slender build, Abnormal digit morphology, Joint hypermobility OMIM:300831
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis OMIM:615085
Summitt Syndrome
Syndactyly, Obesity, Craniosynostosis OMIM:272350
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal metaphys... ORPHA:1782
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Dense metaphyseal bands, Small for gestational age, Slender long bones with narrow di... ORPHA:50811
Diastrophic Dysplasia
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... ORPHA:628
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Flared metaphysi... OMIM:259700
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal bones, Sh... OMIM:618392
Grant Syndrome
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... ORPHA:2097
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... OMIM:614856
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... OMIM:615923
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:277440
Proteus Syndrome
Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperostosis, Facial hy... OMIM:176920
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... OMIM:619638
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal form of the vertebral bod... ORPHA:1486
Tricho-Dento-Osseous Syndrome
Finger clinodactyly, Increased bone mineral density ORPHA:3352
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Coxa valga, Flat acetabular roof, Flattened epiphysis, Hemiatroph... ORPHA:163649
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal... ORPHA:79445
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Osteopenia OMIM:615266
Monosomy 5P
Finger syndactyly, Recurrent fractures, Small hand, Joint hyperflexibility, Abnormality of bone m... ORPHA:281
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... ORPHA:73
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal hip b... ORPHA:93160
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... ORPHA:77297
Dent Disease 1
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300009
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Recurrent fractures ORPHA:329475
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density ORPHA:1114
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... OMIM:239000
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... OMIM:307800
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,... ORPHA:85435
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met... ORPHA:2370
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Joint stiffness, Abnormal thumb morphology, Obesity, Abnormal metacarpal mo... ORPHA:1078
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine... OMIM:619489
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo... OMIM:131300
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Ge... OMIM:617952
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... ORPHA:2741
Pseudopseudohypoparathyroidism
Short metacarpal, Short metatarsal, Osteoporosis, Obesity, Brachydactyly OMIM:612463
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Anterio... ORPHA:1426
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, Short palm, C... ORPHA:3210
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, High iliac wing, Osteopetrosis, Large iliac wing, Facial hyperost... ORPHA:2780
Dysostosis, Stanescu Type
Increased bone mineral density, Bowing of the long bones, Micromelia, Abnormal epiphysis morpholo... ORPHA:1798
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Increased skull ossification ORPHA:85179
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flare... OMIM:224300
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... ORPHA:89936
Craniometaphyseal Dysplasia, Autosomal Dominant
Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormal ... OMIM:123000
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Osteoporosis, Obesity, Short foot, ... ORPHA:3409
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... ORPHA:157215
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... ORPHA:2484
Senior-Loken Syndrome
Cone-shaped epiphysis, Abnormality of bone mineral density ORPHA:3156
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Pycnodysostosis
Increased bone mineral density, Aplastic clavicle, Osteolytic defects of the distal phalanges of ... OMIM:265800
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum OMIM:619073
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Bowing of the legs ORPHA:89937
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2410
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Abnorm... OMIM:127000
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Tapered finger, Knee flexion contractur... OMIM:313420
Senior-Loken Syndrome 9
Osteopenia, Polydactyly, Hypoplasia of the femoral head, Obesity OMIM:616629
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets OMIM:211600
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Obesity OMIM:610628
Pycnodysostosis
Joint laxity, Increased bone mineral density, Rhizomelia, Overweight, Generalized osteosclerosis,... ORPHA:763
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow... OMIM:301014
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing OMIM:126550
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel... ORPHA:2176
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... OMIM:609220
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Rickets OMIM:611590
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ... OMIM:251450
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ... ORPHA:1901
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Finger joint hypermobility, Genu valgum ORPHA:436141
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Rickets OMIM:560000
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Epiphyseal stippling, Small for gestational age, Increased body weight OMIM:274300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis ORPHA:88643
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density ORPHA:935
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Osteoporosis, Increased body weight OMIM:615954
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... OMIM:602080
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Increased bone mineral density, Rhizomelia, Bowing of the long bones, Aplastic ... ORPHA:50945
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Del... ORPHA:1652
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis, Increased body weight OMIM:615830
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... ORPHA:2658
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei... ORPHA:324964
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Failure to thrive, Bowing of the long bones, Camptodactyly of fin... ORPHA:90652
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... OMIM:618476
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... ORPHA:249
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short metatarsal, Obesi... ORPHA:79444
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Osteopoikilosis, Failure to thrive ORPHA:94063
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Coxa valga, Advanced ossification of carpal bones, Obesity, Flattened epiphysis,... OMIM:618363
Achondrogenesis
Abnormality of bone mineral density, Micromelia, Abnormal enchondral ossification ORPHA:932
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Obes... ORPHA:65759
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... OMIM:112350
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... ORPHA:94089
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Patent ductus arteriosus, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis... OMIM:230600
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Obesity, Subcutaneous ossification, ... OMIM:103580
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Small for gestational ag... ORPHA:2909
Desmosterolosis
Increased bone mineral density, Micromelia, Metatarsus adductus, Osteopetrosis, Failure to thrive ORPHA:35107
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Apl... ORPHA:221016
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... ORPHA:93324
Pachydermoperiostosis
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to... ORPHA:2796
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Rickets OMIM:607765
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Obesity ORPHA:77296
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod... ORPHA:3206
Werner Syndrome
Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis, Sl... ORPHA:902
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Met... ORPHA:221008
Acromegaloid Facial Appearance Syndrome
Joint hypermobility, Tapered finger, Large for gestational age, Large hands, Short 5th metacarpal OMIM:102150
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Osteoporosis, Genu valgum OMIM:614880
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Abnormal epiphysis morpho... ORPHA:35687
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Flared metaphysis, Decreased osteoclast cou... OMIM:259720
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss, Clubbing of f... ORPHA:2905
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age OMIM:616026
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Hip dislocation, Obesity, Delayed ossificat... OMIM:618395
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, S... ORPHA:79443
Cantu Syndrome
Broad hallux, Short hallux, Large for gestational age, Coxa valga, Metaphyseal widening, Osteopor... OMIM:239850
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali... OMIM:613848
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... OMIM:300106
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity, Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2235
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Faciocardiomelic Syndrome
Osteopenia, Large for gestational age, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin b... OMIM:612731
Desmosterolosis
Rhizomelia, Generalized osteosclerosis, Joint contracture of the hand, Bilateral talipes equinova... OMIM:602398
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short foot, Small hand, Patchy osteosclerosis, Short palm OMIM:241410
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Reduced bone mineral density, Hip contracture, Ankle flexion contracture, Knee flexion contracture OMIM:620232
Cleidocranial Dysplasia 1
Increased bone mineral density, Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of ... OMIM:119600
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas... ORPHA:2769
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Abnormal cortical bone morphology OMIM:614886
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Obesity, Cone-shaped e... OMIM:614613
Hyperparathyroidism 4
Osteopenia OMIM:617343
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... OMIM:269500
Cystinosis
Failure to thrive, Rickets ORPHA:213
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Failure to thrive, Rickets ORPHA:2088
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short metatarsal, Osteoporosis, Obesity, Brachydactyly OMIM:612462
Momo Syndrome
Large for gestational age, Obesity, Femoral bowing, Large hands, Overgrowth, Short sternum, Abnor... ORPHA:2563
Perrault Syndrome 4
Disproportionate tall stature, Osteoporosis, Obesity OMIM:615300
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat... OMIM:620099
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Bilateral talipe... OMIM:609465
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Absent ossification of capital fe... ORPHA:226313
Raine Syndrome
Increased bone mineral density, Bowing of the long bones, Micromelia, Subperiosteal bone formatio... OMIM:259775
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... OMIM:166220
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening OMIM:617994
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Sanjad-Sakati Syndrome
Short foot, Small hand, Patchy osteosclerosis ORPHA:2323
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of... ORPHA:370010
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Sclerosis of skull base... OMIM:269300
Schwartz-Jampel Syndrome
Micromelia, Coxa vara, Wrist flexion contracture, Increased bone mineral density, Abnormally ossi... ORPHA:800
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Rickets ORPHA:79303
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Thin bony cortex, Recurrent fractures, Long fingers, Ost... OMIM:309583
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... ORPHA:1422
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Obesity, Radioulnar synostosis, Short... ORPHA:171839
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Truncal obesity, Osteoporosis OMIM:219080
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... OMIM:166200
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Joint hypermobility OMIM:620065
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Truncal obesity, Osteoporosis OMIM:610475
Spondyloocular Syndrome
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Decreased bo... OMIM:605822
Aromatase Deficiency
Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Osteoporosis, Obesity, Genu valgu... ORPHA:91
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Abnormal pelvis bone morphology, Obesity ORPHA:2206
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Hip dysplasia, Cranial hyperostosis ORPHA:457240
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Osteoporosis, Hip dislocation, Reduced bone min... OMIM:616507
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Recurrent fractures ORPHA:416
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os... ORPHA:667
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly ... OMIM:619269
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Craniosynostosis, Obesity, Joint hypermobility OMIM:619056
Mccune-Albright Syndrome
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Abnormal femur morphology, Pol... ORPHA:562
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... OMIM:277600
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... ORPHA:355
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... ORPHA:2710
Celiac Disease, Susceptibility To, 1
Weight loss, Failure to thrive, Osteoporosis, Rickets OMIM:212750
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... OMIM:619727
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... OMIM:271665
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Joint laxity, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irr... OMIM:610442
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Tapered finger, Generalized joint laxity, Increased body weight, 2-3 toe syndactyly, Clinodactyly... ORPHA:589905
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... OMIM:231070
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... OMIM:620076
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Clubbing ORPHA:33364
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... ORPHA:793
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Metatarsus adductus, Osteoporosis, Flared metaphysis, Hip d... OMIM:249420
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Truncal obesity, Osteoporosis OMIM:610489
Fanconi-Bickel Syndrome
Failure to thrive, Rickets, Osteomalacia OMIM:227810
Distal Renal Tubular Acidosis
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Failu... ORPHA:18
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis, Rickets, Large hands, Ar... ORPHA:2671
Camurati-Engelmann Disease
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Cachexia, ... ORPHA:1328
Luscan-Lumish Syndrome
Overgrowth, Advanced ossification of carpal bones, Obesity OMIM:616831
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Genu varum, Sa... OMIM:201000
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Irregular epiphyses,... OMIM:618162
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Large for gestational age, Osteoporosis, Lambdoidal craniosyn... OMIM:615398
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Short thumb, Obesity, Limited shoulder movem... OMIM:618821
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Osteoporosis, Obesity OMIM:219090
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Brachydactyly, Abnormal distal phalanx morphology of f... ORPHA:2636
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Increased body weight, Large for gestational age ORPHA:263455
Greenberg Dysplasia
Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli... OMIM:215140
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Osteoporosis, Increased body weight, Increased susceptibility to fractures ORPHA:189427
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Obesity, Genu valgum, Joint hyperflexibility ORPHA:1035
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... OMIM:269150
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Small hand, Short foot, Thickened cortex of long bones, Broad femoral neck, Distal sh... ORPHA:488434
Temple Syndrome
Small for gestational age, Overweight, Flexion contracture, Small hand, Obesity, Short foot, Trun... OMIM:616222
Clark-Baraitser syndrome
Joint laxity, Tapered finger, Obesity, Genu valgum, Short palm, Tall stature OMIM:300602
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... OMIM:250420
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Obesity, Short foot, Clinodactyly, Joint hypermobility ORPHA:254531
Weill-Marchesani Syndrome 2
Short metacarpal, Joint stiffness, Broad metatarsal, Elbow flexion contracture, Short metatarsal,... OMIM:608328
Atypical Werner Syndrome
Sclerosis of hand bone, Short palm, Increased bone mineral density, Rocker bottom foot, Limitatio... ORPHA:79474
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Osteoporosis, Obesity, Small hand, Short foot, Abdominal obesity, Hip dysplasia, Fail... ORPHA:398079
Infantile Nephropathic Cystinosis
Failure to thrive, Rickets ORPHA:411629
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Small for gestational age, Rickets, Reduced bone mineral density, Failu... OMIM:613658
Osteogenesis Imperfecta
Osteopenia, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal ... ORPHA:666
Frontometaphyseal Dysplasia
Limited elbow movement, Metaphyseal widening, Short metatarsal, Short phalanx of finger, Wrist fl... ORPHA:1826
Kallmann Syndrome
Obesity, Recurrent fractures, Reduced bone mineral density ORPHA:478
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Flexion contracture, Osteoporosis, Increased body weight, Small hand, Short foot, Abd... ORPHA:398069
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Mulibrey Nanism
Thickened cortex of long bones OMIM:253250
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Osteoporosis, Increased body weight ORPHA:79240
Aspartylglucosaminuria
Joint stiffness, Arthritis, Anterior beaking of lumbar vertebrae, Scoliosis, Beaking of vertebral... ORPHA:93
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Osteomalacia, Rickets, Hip dislocation, Genu valgum, ... OMIM:309000
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Obesity, Short palm, Clinodact... ORPHA:254346
Achondroplasia
Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal phalanx of finger, Abnorm... ORPHA:15
Prader-Willi Syndrome
Osteopenia, Syndactyly, Failure to thrive in infancy, Acromicria, Osteoporosis, Obesity, Small ha... OMIM:176270
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Osteoporosis, Increased body weight ORPHA:264580
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Craniosynostosis, Obesity, Camptodactyly of toe ORPHA:251038
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Large for gestational age, Osteoporosis, Large hands, Finger joint hype... ORPHA:363705
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Diaphyseal thickening ORPHA:1513
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Failure to thrive, Recurrent fractures ORPHA:2785
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Craniosynostosis, Obesity ORPHA:251004
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small for gestational age, Osteoporosis, Obesity, Small hand, Short foot, Hip dysplas... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small for gestational age, Osteoporosis, Obesity, Small hand, Short foot, Hip dysplas... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small for gestational age, Osteoporosis, Obesity, Small hand, Short foot, Hip dysplas... ORPHA:177904
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Pathologic fracture, Obesity OMIM:614231
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small for gestational age, Osteoporosis, Obesity, Small hand, Short foot, Hip dysplas... ORPHA:177901
Distal Triplication 15Q
Arachnodactyly, Craniosynostosis, Large for gestational age, Birth length greater than 97th perce... ORPHA:314588
Proximal 16P11.2 Microdeletion Syndrome
Hand polydactyly, Failure to thrive, Obesity, Craniosynostosis ORPHA:261197
Wilson Disease
Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility OMIM:277900
Cystinosis, Nephropathic
Failure to thrive in infancy, Metaphyseal widening, Rickets, Weight loss, Genu valgum, Hypophosph... OMIM:219800
Wilson Disease
Increased body weight, Weight loss, Arthritis, Pathologic fracture, Failure to thrive ORPHA:905
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Upper limb undergrowth, Obesity, Slender long bone, Joint hypermobi... ORPHA:369837
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Congenital hip dislocation, Increased body weight OMIM:614450
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Hallux valgus, Failure to thrive in inf... ORPHA:904
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Joint stiffness, Hip dislocation, Genu valgum, Joint hyperflex... ORPHA:534
Sotos Syndrome
Joint laxity, Long metacarpals, Increased body weight, Genu valgum, Long phalanx of finger, Large... OMIM:117550
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Failure to thrive, Joint laxity, Large for gestational age OMIM:607721
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Osteomyelitis, Osteomalacia, Weight loss OMIM:619381
Cushing Disease
Truncal obesity, Abdominal obesity, Osteoporosis, Increased body weight ORPHA:96253
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large for gestational age, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Small prox... ORPHA:96334
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Short foot, Broad hallux, Increased body weight, 2-3 toe syndactyly OMIM:300860
Smith-Magenis Syndrome
Brachydactyly, Increased body weight, Short palm OMIM:182290
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Stuve-Wiedemann Syndrome 1
Ovoid vertebral bodies, Short neck, Osteoporosis, Pathologic fracture, Elbow flexion contracture,... OMIM:601559
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Osteomalacia, Stippled calcification of the shoulder, Abnormal calc... ORPHA:51608
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... ORPHA:93317
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Hypermobility of toe joints, Failure to thrive in infancy, Short toe, Enlargement of ... ORPHA:99413
Turner Syndrome
Osteopenia, Hypermobility of toe joints, Failure to thrive in infancy, Short toe, Enlargement of ... ORPHA:881
Mosaic Monosomy X
Osteopenia, Hypermobility of toe joints, Failure to thrive in infancy, Short toe, Enlargement of ... ORPHA:99228
Monosomy X
Osteopenia, Hypermobility of toe joints, Failure to thrive in infancy, Short toe, Enlargement of ... ORPHA:99226
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Carpenter Syndrome 2
Short digit, Craniosynostosis, Postaxial polydactyly, Preaxial polydactyly, Obesity, Coxa vara, K... OMIM:614976
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Delayed proximal femoral epiphyseal ossification, Hand polydactyly, Abnormal epiphysi... ORPHA:226307
Cushing Syndrome Due To Ectopic Acth Secretion
Osteoporosis, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity ORPHA:99889
Insulinoma
Increased body weight ORPHA:97279
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Osteoarthritis, Increased body weight, Weight loss, Decreased body we... ORPHA:2298
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
17Q11 Microdeletion Syndrome
Osteopenia, Kyphosis, Osteoporosis, Osteolysis, Abnormality of the vertebral column, Beaking of v... ORPHA:97685
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Hellp Syndrome
Increased body weight ORPHA:244242
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359

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 Sost

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 Sost.

There are 19 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Sclerostin ablation prevents aortic valve stenosis in mice. American journal of physiology. Heart and circulatory physiology (October 2022) Sosttm1(KOMP)Vlcg 36240434
Bone-derived sclerostin and Wnt/β-catenin signaling regulate PDGFRα+ adipoprogenitor cell differentiation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (November 2021) Sosttm1(KOMP)Vlcg 34606641
SOSTDC1-producing follicular helper T cells promote regulatory follicular T cell differentiation. Science (New York, N.Y.) (August 2020) Sostdc1tm1(KOMP)Vlcg 32820125
Gli1+ Periodontium Stem Cells Are Regulated by Osteocytes and Occlusal Force. Developmental cell (July 2020) Sosttm1(KOMP)Vlcg 32652075
SOST Deficiency Aggravates Osteoarthritis in Mice by Promoting Sclerosis of Subchondral Bone. BioMed research international (November 2019) Sosttm1(KOMP)Vlcg PMC6885161
Lrp4 expression by adipocytes and osteoblasts differentially impacts sclerostin's endocrine effects on body composition and glucose metabolism. The Journal of biological chemistry (March 2019) Sosttm1(KOMP)Vlcg 30842262
Shared and Unique Features Distinguishing Follicular T Helper and Regulatory Cells of Peripheral Lymph Node and Peyer's Patches. Frontiers in immunology (April 2018) Sostdc1tm1(KOMP)Vlcg PMC5900012
Sclerostin influences body composition by regulating catabolic and anabolic metabolism in adipocytes. Proceedings of the National Academy of Sciences of the United States of America (December 2017) Sosttm1(KOMP)Vlcg PMC5748171
Sost Deficiency does not Alter Bone's Lacunar or Vascular Porosity in Mice. Frontiers in materials (September 2017) Sosttm1(KOMP)Vlcg PMC5769812
Sclerostin Promotes Bone Remodeling in the Process of Tooth Movement. PloS one (January 2017) Sosttm1(KOMP)Vlcg PMC5230762
SIKs control osteocyte responses to parathyroid hormone. Nature communications (October 2016) Sosttm1(KOMP)Vlcg PMC5075806
Removal of SOST or blocking its product sclerostin rescues defects in the periodontitis mouse model. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (March 2015) Sosttm1(KOMP)Vlcg PMC4478802
Enhanced prostacyclin formation and Wnt signaling in sclerostin deficient osteocytes and bone. Biochemical and biophysical research communications (April 2014) Sosttm1(KOMP)Vlcg PMC4052706
Sclerostin deficient mice rapidly heal bone defects by activating β-catenin and increasing intramembranous ossification. Biochemical and biophysical research communications (November 2013) Sosttm1(KOMP)Vlcg PMC3876417
Conditionals by inversion provide a universal method for the generation of conditional alleles. Proceedings of the National Academy of Sciences of the United States of America (August 2013) Sosttm1(KOMP)Vlcg PMC3752204
Sclerostin alters serum vitamin D metabolite and fibroblast growth factor 23 concentrations and the urinary excretion of calcium. Proceedings of the National Academy of Sciences of the United States of America (March 2013) Sosttm1(KOMP)Vlcg PMC3625358
Targeted deletion of Sost distal enhancer increases bone formation and bone mass. Proceedings of the National Academy of Sciences of the United States of America (August 2012) Sosttm1(KOMP)Vlcg PMC3435175
Absence of sclerostin adversely affects B-cell survival. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (July 2012) Sosttm1(KOMP)Vlcg PMC3377789
Distinct modes of inhibition by sclerostin on bone morphogenetic protein and Wnt signaling pathways. The Journal of biological chemistry (October 2010) Sosttm1(KOMP)Vlcg PMC3009889

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
Sosttm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sosttm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sosttm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sosttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Sosttm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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