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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
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... 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
Failure to thrive, Dense metaphyseal bands, Clavicular sclerosis, Metaphyseal dysplasia, Increase... OMIM:615198
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Tall stature, Curved distal phalanges of the hand, ... ORPHA:3152
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Thickened cortex of long bones, Scoliosis, Recurrent fractures ORPHA:53697
Mueller-Weiss Syndrome
Tibiofibular diastasis, Sclerosis of foot bone, Abnormality of the os naviculare pedis, Tibial to... ORPHA:566943
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Abnormal lim... ORPHA:2204
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De... OMIM:611497
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Tall stature OMIM:618406
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Melorheostosis
Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthriti... ORPHA:2485
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi... OMIM:607634
Osseous Heteroplasia, Progressive
Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Mazabraud Syndrome
Recurrent fractures, Fibrous dysplasia of the bones ORPHA:57782
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility OMIM:259690
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Lethal Recessive Chondrodysplasia
Micromelia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long bone ORPHA:1423
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... ORPHA:970
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o... OMIM:166600
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o... ORPHA:90650
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Thin bony cortex, Pathologic fracture OMIM:174810
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Recurrent fractures,... ORPHA:210110
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Delay... OMIM:617974
Pyle Disease
Genu valgum, Limited elbow extension, Thin bony cortex, Metaphyseal widening, Metaphyseal dysplas... OMIM:265900
Pseudopseudohypoparathyroidism
Short 5th finger, Short distal phalanx of the thumb, Ectopic ossification, Short 5th metacarpal, ... ORPHA:79445
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Cortical sclerosis OMIM:122860
Osteoporosis
Osteoporosis OMIM:166710
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal epiphysis morphology, Reduced bone mineral density, Bowing of the long bones, Metaphysea... ORPHA:2501
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Fibular bowing, F... OMIM:600081
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Corti... ORPHA:1310
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ... OMIM:144750
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic cervical vert... ORPHA:2635
Cranio-Osteoarthropathy
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... ORPHA:1525
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio... OMIM:114000
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... ORPHA:1952
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Trun... OMIM:620639
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Osteogenesis Imperfecta, Type Xxii
Slender long bone, Bowing of the long bones, Pseudoarthrosis, Thin bony cortex, Multiple prenatal... OMIM:619795
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Diaphyseal dysplasia, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology ORPHA:1522
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300554
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... ORPHA:85184
Chondrodysplasia, Blomstrand Type
Micromelia, Flared metaphysis, Generalized osteosclerosis, Advanced ossification of carpal bones,... OMIM:215045
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Fibular bowing, F... OMIM:241530
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea... ORPHA:174
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Small for gestational age, Increased bone mineral density, Coxa valga OMIM:616943
Diastrophic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Short finger, Camptodactyly... ORPHA:628
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Failure to thrive, Dense metaphyseal bands, Slender build, Slender long bones with na... ORPHA:50811
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mineral density, ... ORPHA:1782
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Ck Syndrome
Joint hypermobility, Slender build, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Osteomye... ORPHA:53
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Decreased body weight, Brachydactyly, Reduced bone mineral density, Small for... OMIM:618392
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Osteopetrosis, Increased bone mineral density, Decreased body weight OMIM:617306
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Abnormal cortical bone ... ORPHA:2097
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys... ORPHA:93284
Osteogenesis Imperfecta, Type Xiii
Wide distal femoral metaphysis, Femoral bowing, Wide pubic symphysis, Recurrent fractures, Joint ... OMIM:614856
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Hypophosphatemic Bone Disease
Osteomalacia, Rickets, Bowing of the legs OMIM:146350
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Flared metaphysis, Pathologic fracture, Osteomyelitis, Femur fracture, Osteope... OMIM:259700
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Long ha... OMIM:615923
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Hypercholanemia, Familial 1
Rickets, Failure to thrive OMIM:607748
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... OMIM:277440
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Increased bone mineral densi... ORPHA:289176
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal form of the vertebral bodies, Abnormal cortical bone morph... ORPHA:1486
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co... OMIM:619638
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Delayed patellar ossification, Abnormal femoral neck/h... ORPHA:163649
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Finger clinodactyly ORPHA:3352
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Kyphoscoliosis, Thin bony cortex, Calvarial hyperos... OMIM:176920
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased susceptibility to fractures, Synovitis, Cachexia, Wei... ORPHA:77297
Monosomy 5P
Small hand, Finger syndactyly, Recurrent fractures, Joint hypermobility, Abnormality of bone mine... ORPHA:281
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Osteopenia OMIM:615266
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abnormal hip bone morphology, Gen... ORPHA:93160
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Increased spinal bone density ORPHA:329475
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Genu valgum, Osteopetrosis, Decrea... OMIM:259710
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Failure to thrive, Recurrent fractures, Short humerus, Lateral femoral bowing, Bowing... OMIM:239000
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Greenberg Dysplasia
Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Decreased skull ossification, Anterior... ORPHA:1426
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Reduced bone mineral density, Abnormal metacarpal morphol... ORPHA:2370
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Joint stiffness, Obesity, Abnormal thumb morphology, Abnormal metacarpal mo... ORPHA:1078
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Short Stature, Dauber-Argente Type
Osteopenia, Decreased fibular diameter, Arachnodactyly, Long toe, Long fingers, Reduced bone mine... OMIM:619489
Camurati-Engelmann Disease
Slender build, Sclerosis of skull base, Genu valgum, Cortical thickening of long bone diaphyses, ... OMIM:131300
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Generalized oste... OMIM:617952
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Pseudopseudohypoparathyroidism
Obesity, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal OMIM:612463
Ophthalmomandibulomelic Dysplasia
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ... ORPHA:2741
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Limitation of joint m... ORPHA:85435
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Failure to thrive OMIM:602722
Dysostosis, Stanescu Type
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ... ORPHA:1798
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Tall stature, Obesity, Genu valgum, Short 4th metacar... ORPHA:3210
Osteopathia Striata-Cranial Sclerosis Syndrome
High iliac wing, Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increa... ORPHA:2780
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Osteo... ORPHA:289157
X-Linked Hypophosphatemia
Flattening of the talar dome, Shortening of the talar neck, Abnormal epiphysis morphology, Ricket... ORPHA:89936
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner... ORPHA:1508
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis,... ORPHA:94089
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Aplasia Cutis Congenita
Abnormality of bone mineral density, Toe syndactyly, Finger syndactyly ORPHA:1114
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Increased skull ossification ORPHA:85179
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Bowing... ORPHA:157215
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Dysosteosclerosis
Short diaphyses, Osteopenia, Broad femoral neck, Flared metaphysis, Sclerosis of hand bone, Scler... OMIM:224300
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Abnormal metaphysis m... ORPHA:2484
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Small for gestational age, Increased bone mineral density, Abnorm... OMIM:127000
Senior-Loken Syndrome
Cone-shaped epiphysis, Abnormality of bone mineral density ORPHA:3156
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Metaphyseal cupping, Flared metaphysis, Genu varum, Bowing of the legs OMIM:619073
Pycnodysostosis
Aplastic clavicle, Brachydactyly, Narrow iliac wing, Increased bone mineral density, Osteolytic d... OMIM:265800
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures ORPHA:2410
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Bowing of the legs ORPHA:89937
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys... OMIM:123000
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Hyperextensibility of the finger joints, Sclerosis of skull base, Hip contracture, ... OMIM:313420
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Failure to thrive OMIM:211600
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Coarse metaphyseal trabecularization, Flared metaphysis, Thickened cortex of long bones, Hip dysp... OMIM:620558
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Senior-Loken Syndrome 9
Polydactyly, Obesity, Osteopenia, Hypoplasia of the femoral head OMIM:616629
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615267
Pycnodysostosis
Coronal craniosynostosis, Small hand, Rhizomelia, Short finger, Hypoplastic iliac wing, Overweigh... ORPHA:763
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Obesity OMIM:610628
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Infantile Systemic Hyalinosis
Osteopenia, Micromelia, Failure to thrive, Osteomalacia, Camptodactyly of finger, Joint stiffness... ORPHA:2176
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Bowing of the arm, Joint hypermobility, Multiple prenatal fractures, Recu... OMIM:301014
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne... OMIM:609220
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Epiphyseal stippling, Small for gestational age OMIM:274300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive OMIM:611590
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis OMIM:259730
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Avascular necrosis of the capital femoral epiphysis, Joint sti... ORPHA:1901
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures OMIM:126550
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... OMIM:251450
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Failure to thrive OMIM:560000
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Recurrent fractures, Osteomalacia OMIM:613388
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Finger joint hypermobility, Obesity, Genu valgum ORPHA:436141
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Reduced bone mineral density, Abnormal metaphysis morphology, Long fibula ORPHA:935
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Obesity ORPHA:88643
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Osteoporosis, Abdominal obesity OMIM:615954
Dent Disease
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae... ORPHA:1652
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp... ORPHA:50945
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia, Increased body weight OMIM:615830
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Lenz-Majewski Hyperostotic Dwarfism
Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ... ORPHA:2658
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Short thumb, Failure to thrive, Carpal synostosis, Preaxial polydacty... ORPHA:90652
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati... OMIM:618476
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal epiphysis morphology, Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Abnormal... ORPHA:324964
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Osteopoikilosis, Failure to thrive ORPHA:94063
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Abnormal tibia morphology, Cortical irregularity, Abnormal pelvis bone mor... ORPHA:249
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca... ORPHA:79444
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Small epiphyses, Genu valgum, Obesity, Hip contracture, Joint hypermobility, Short long bone, Fla... OMIM:618363
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Obesity, Genu valgum, ... ORPHA:65759
Achondrogenesis
Abnormality of bone mineral density, Abnormal enchondral ossification, Micromelia ORPHA:932
Pseudohypoparathyroidism, Type Ia
Short toe, Short finger, Obesity, Subcutaneous ossification, Brachydactyly, Osteoporosis, Short m... OMIM:103580
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib... OMIM:112350
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Desmosterolosis
Failure to thrive, Micromelia, Osteopetrosis, Metatarsus adductus, Increased bone mineral density ORPHA:35107
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Hypoplastic vertebral bodies, Beaking of ... OMIM:230600
Autosomal Recessive Kenny-Caffey Syndrome
Small hand, Decreased skull ossification, Stenosis of the medullary cavity of the long bones, Cal... ORPHA:93324
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Micromelia, Camptodactyly of finger, Elbow flexion cont... ORPHA:3206
Erdheim-Chester Disease
Abnormal epiphysis morphology, Osteomyelitis, Weight loss, Increased bone mineral density, Abnorm... ORPHA:35687
Werner Syndrome
Small hand, Slender build, Joint stiffness, Osteoporosis, Rocker bottom foot, Increased bone mine... ORPHA:902
Pachydermoperiostosis
Small hand, Clubbing of toes, Abnormal epiphysis morphology, Limitation of joint mobility, Osteol... ORPHA:2796
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive OMIM:607765
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Obesity, Hyperostosis frontalis interna, Osteoarthritis ORPHA:77296
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Short thumb, R... ORPHA:2909
Osteogenesis Imperfecta, Type X
Osteopenia, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Tibial bowing, Decreased calvari... OMIM:613848
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Small for gestational age, Patellar hypoplasia, ... ORPHA:221016
Acromegaloid Facial Appearance Syndrome
Short 5th metacarpal, Large for gestational age, Joint hypermobility, Large hands, Tapered finger OMIM:102150
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Flared metaphysis, Osteopetrosis, Decreased osteoclast count, Increased bon... OMIM:259720
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Rickets OMIM:616026
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteoporosis, Osteopenia, Genu valgum OMIM:614880
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Cone-shaped metacarpal epiphyses, Rhizomelia, Metaphyseal cuppin... OMIM:250220
Cantu Syndrome
Erlenmeyer flask deformity of the femurs, Broad hallux, Large for gestational age, Broad first me... OMIM:239850
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short femoral neck, Obesity, Joint hypermobility, Carpal bone hypoplasia, Hypoplasia of the ulna,... OMIM:618395
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Small for gestational age, Patellar hypoplasia, ... ORPHA:221008
Pseudohypoparathyroidism Type 1A
Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossifica... ORPHA:79443
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Metaphyseal sclerosis, Sclerosis of skull base, W... ORPHA:2905
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Obesity, Reduced bone mineral density, Recurrent fractures ORPHA:2235
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Desmosterolosis
Rhizomelia, Joint contracture of the hand, Failure to thrive, Generalized osteosclerosis, Bilater... OMIM:602398
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Small hand, Short foot, Short palm OMIM:241410
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Large for gestational age, Hypoplastic pelvis, Polydactyly, Thin b... OMIM:612731
Cleidocranial Dysplasia 1
Aplastic clavicle, Hypoplastic scapulae, Hypoplastic iliac wing, Cone-shaped epiphyses of the pha... OMIM:119600
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Patent ductus arteriosus OMIM:614886
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Failure to thrive, Recurrent fractures, Bowed humerus... OMIM:609465
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Obesity, Brachydactyly, Short metatarsal, Advanced ossification of carpal ... OMIM:614613
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contracture OMIM:620232
Sclerosteosis 1
Abnormal pelvic girdle bone morphology, Deviation of finger, Facial palsy secondary to cranial hy... OMIM:269500
Hyperparathyroidism 4
Osteopenia OMIM:617343
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Abnormal cortical bone morphology, Increased susceptibility to fr... ORPHA:2769
Momo Syndrome
Tall stature, Obesity, Femoral bowing, Large for gestational age, Short sternum, Overgrowth, Abno... ORPHA:2563
Pseudohypoparathyroidism, Type Ic
Obesity, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal OMIM:612462
Cystinosis
Rickets, Failure to thrive ORPHA:213
Fanconi-Bickel Syndrome
Bowing of the long bones, Osteopenia, Rickets, Failure to thrive ORPHA:2088
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Perrault Syndrome 4
Osteoporosis, Obesity, Disproportionate tall stature OMIM:615300
Raine Syndrome
Micromelia, Long hallux, Bowing of the long bones, Brachydactyly, Subperiosteal bone formation, I... OMIM:259775
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Failure to thrive, Ge... OMIM:620099
Gaucher Disease Type 3
Increased bone mineral density, Increased susceptibility to fractures, Osteolysis ORPHA:77261
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Large for gestational age, Abnormal epiphysis morphology, Absent... ORPHA:226313
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Increased susceptibility to fractures, ... OMIM:166220
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612287
Osteogenesis Imperfecta, Type Viii
Osteopenia, Slender long bone, Radial bowing, Femoral bowing, Recurrent fractures, Tibial bowing,... OMIM:610915
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Short foot ORPHA:2323
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Craniometadiaphyseal Dysplasia
Osteopenia, Flared metaphysis, Broad long bones, Sclerosis of skull base, Genu valgum, Genu varum... OMIM:269300
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Failure to thrive ORPHA:79303
Schwartz-Jampel Syndrome
Genu valgum, Hip contracture, Decreased body weight, Bowing of the long bones, Talipes equinovaru... ORPHA:800
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossification, Broad long bone... ORPHA:1422
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Long hallux, Tall stature, Talipes equinovarus, Long fingers, Thin bony cortex, Osteoporosis, Rec... OMIM:309583
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short femoral neck, Flared metaphysis, Short palm, Aplasia/Hypoplasia of metatarsal bones, Joint ... ORPHA:2502
Spondyloocular Syndrome
Osteopenia, Overlapping toe, Decreased body weight, Arachnodactyly, Femur fracture, Long toe, Lon... OMIM:605822
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia, Truncal obesity OMIM:219080
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Joint hypermobility, Hip dyspl... OMIM:166200
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Obesity, Bowing of the long bones, Radioulnar synostosis, Craniosynostosis, Short... ORPHA:171839
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Osteopenia, Truncal obesity OMIM:610475
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612286
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Joint hypermobility OMIM:620065
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Cranial hyperostosis, Hip dysplasia ORPHA:457240
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Tall stature, Obesity, Genu valgum, Eunuchoid habitu... ORPHA:91
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Obesity, Clinodactyly of the 5th finger, Short phalanx of finger, Cone-sha... OMIM:619269
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Obesity, Osteoarthritis ORPHA:2206
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures, Failure to thrive ORPHA:416
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Weight loss, Rickets, Osteomalacia ORPHA:309031
Osteogenesis Imperfecta, Type Xvii
Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Bowed humerus, Osteoporosis, ... OMIM:616507
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Abnormal fibula morphology, Short... ORPHA:198
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones, Osteopet... ORPHA:667
Mccune-Albright Syndrome
Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Abnormal femur morphology, Fibr... ORPHA:562
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Craniosynostosis, Obesity, Joint hypermobility OMIM:619056
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Joint stiffness, Brachydactyly, Thin bony cortex, Broad metatarsal, ... OMIM:277600
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Broad metacarpals, Micromelia, Flared metaphysis,... OMIM:271665
Oculodentodigital Dysplasia
Toe syndactyly, Finger syndactyly, Clinodactyly, Preaxial hand polydactyly, Aplasia/Hypoplasia of... ORPHA:2710
Celiac Disease, Susceptibility To, 1
Osteoporosis, Weight loss, Rickets, Failure to thrive OMIM:212750
Craniotubular Dysplasia, Ikegawa Type
Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Metaphyseal dysp... OMIM:619727
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ... ORPHA:3003
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Joint hypermobility,... OMIM:610442
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Generalized joint hypermobility, 2-3 toe syndactyly, Increased body weight, Clinodactyly of the 5... ORPHA:589905
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Clubbing ORPHA:33364
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... OMIM:620076
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Metacarpal periosteal thickening, Calvarial osteosclerosis OMIM:617994
Fanconi-Bickel Syndrome
Rickets, Failure to thrive, Osteomalacia OMIM:227810
Neu-Laxova Syndrome
Osteopenia, Rickets, Micromelia, Osteomalacia, Large hands, Osteoporosis, Flexion contracture, Ar... ORPHA:2671
Frank-Ter Haar Syndrome
Osteopenia, Flared metaphysis, Cortical irregularity, Bowing of the long bones, Talipes equinovar... OMIM:249420
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteoporosis, Osteopenia, Truncal obesity OMIM:610489
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone o... OMIM:618162
Sapho Syndrome
Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Abnorma... ORPHA:793
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Luscan-Lumish Syndrome
Overgrowth, Advanced ossification of carpal bones, Obesity OMIM:616831
Camurati-Engelmann Disease
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Craniofacial osteoscler... ORPHA:1328
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Short thumb, Prominent fingertip pads, Obesity, Limited shoulder mo... OMIM:618821
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Large for gestational age, Hypoplasia of the ulna, Osteo... OMIM:615398
Gaucher Disease
Osteopenia, Pathologic fracture, Osteomyelitis, Joint stiffness, Recurrent fractures, Osteoarthri... ORPHA:355
Distal Renal Tubular Acidosis
Rickets, Failure to thrive, Osteomalacia, Increased susceptibility to fractures, Reduced bone min... ORPHA:18
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Decrease... OMIM:215140
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplastic clavicle, Broad distal phalanx of finger, Bifid femur, Osteopenia, Micromelia, Rickets, ... ORPHA:2636
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis, Obesity, Abdominal obesity OMIM:219090
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age, Hypophosphatemic rickets ORPHA:263455
Beta-Mercaptolactate Cysteine Disulfiduria
Micromelia, Sandal gap, Obesity, Genu valgum, Joint hypermobility, Arachnodactyly ORPHA:1035
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Osteoporosis, Increased susceptibility to fractures, Abdominal obesity ORPHA:189427
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Obesity, Genu valgum, Joint hyper... OMIM:250420
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Failure to... OMIM:269150
Temple Syndrome
Small hand, Clinodactyly, Obesity, Joint hypermobility, Truncal obesity, Flexion contracture, Sho... OMIM:616222
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long ... ORPHA:488434
Clark-Baraitser syndrome
Tall stature, Obesity, Genu valgum, Joint hypermobility, Short palm, Tapered finger OMIM:300602
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Clinodactyly, Obesity, Joint hypermobility, Short foot ORPHA:254531
Weill-Marchesani Syndrome 2
Broad phalanges of the hand, Short finger, Elbow flexion contracture, Joint stiffness, Brachydact... OMIM:608328
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Failure to thrive, Slender build, Joint hypermobility, Thin bony cortex, Red... OMIM:613658
Atypical Werner Syndrome
Limitation of joint mobility, Failure to thrive, Finger clinodactyly, Sclerosis of hand bone, Pro... ORPHA:79474
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Small hand, Failure to thrive, Obesity, Abdominal obesity, Hip dysplasia, Osteoporosi... ORPHA:398079
Osteogenesis Imperfecta
Abnormal tibia morphology, Genu valgum, Decreased skull ossification, Bowing of the long bones, D... ORPHA:666
Infantile Nephropathic Cystinosis
Rickets, Failure to thrive ORPHA:411629
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move... ORPHA:1826
Kallmann Syndrome
Obesity, Reduced bone mineral density, Recurrent fractures ORPHA:478
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small hand, Failure to thrive, Increased body weight, Abdominal obesity, Hip dysplasi... ORPHA:398069
Achondroplasia
Rhizomelia, Hip joint hypermobility, Obesity, Trident hand, Limited elbow extension, Knee joint h... ORPHA:15
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Arthrogryposis multiplex congenita, Sandal gap, Finger syndactyly, Obesity, Cli... ORPHA:254346
Mulibrey Nanism
Thickened cortex of long bones OMIM:253250
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight, Osteoporosis ORPHA:79240
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Rickets, Failure to thrive, Osteomalacia, Camptod... OMIM:309000
Aspartylglucosaminuria
Abnormal vertebral morphology, Joint stiffness, Abnormal cortical bone morphology, Beaking of ver... ORPHA:93
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Weight loss, Increased susceptibility to fractures, Osteomalacia ORPHA:3337
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Obesity, Camptodactyly of toe, Craniosynostosis ORPHA:251038
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Osteoporosis, Failure to thrive ORPHA:264580
Prader-Willi Syndrome
Osteopenia, Small hand, Radial deviation of finger, Clinodactyly, Class III obesity, Failure to t... OMIM:176270
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Diaphyseal undertubulation ORPHA:1513
Craniofaciofrontodigital Syndrome
Osteopenia, Large for gestational age, Finger joint hypermobility, Joint hypermobility, Large han... ORPHA:363705
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Obesity, Recurrent fractures ORPHA:251004
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small hand, Failure to thrive, Obesity, Hip dysplasia, Osteoporosis, Short foot, Smal... ORPHA:98754
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures, Failure to thrive ORPHA:2785
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small hand, Failure to thrive, Obesity, Hip dysplasia, Osteoporosis, Short foot, Smal... ORPHA:98793
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Pathologic fracture, Osteopenia, Obesity OMIM:614231
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small hand, Failure to thrive, Obesity, Hip dysplasia, Osteoporosis, Short foot, Smal... ORPHA:177904
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Hand polydactyly, Obesity, Failure to thrive ORPHA:261197
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small hand, Failure to thrive, Obesity, Hip dysplasia, Osteoporosis, Short foot, Smal... ORPHA:177901
Distal Triplication 15Q
Birth length greater than 97th percentile, Large for gestational age, Arachnodactyly, Camptodacty... ORPHA:314588
Cystinosis, Nephropathic
Rickets, Failure to thrive, Failure to thrive in infancy, Genu valgum, Hypophosphatemic rickets, ... OMIM:219800
Wilson Disease
Failure to thrive, Pathologic fracture, Increased body weight, Weight loss, Arthritis ORPHA:905
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Slender long bone, Upper limb undergrowth, Obesity, Joint hypermobility, Craniosynost... ORPHA:369837
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Congenital hip dislocation, Increased body mass index OMIM:614450
Williams Syndrome
Synostosis of joints, Osteopenia, Abnormal pelvic girdle bone morphology, Failure to thrive in in... ORPHA:904
Hypomagnesemia 3, Renal
Rickets, Failure to thrive, Genu valgum, Short metacarpal, Bowing of the legs OMIM:248250
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Sotos Syndrome
Long metacarpals, Tall stature, Genu valgum, Joint hypermobility, Increased body weight, Overgrow... OMIM:117550
Oculocerebrorenal Syndrome Of Lowe
Abnormal epiphysis morphology, Failure to thrive, Osteomalacia, Joint stiffness, Genu valgum, Rec... ORPHA:534
Wilson Disease
Joint hypermobility, Osteoporosis, Osteoarthritis, Osteomalacia OMIM:277900
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Weight loss, Arthritis, Osteomalacia OMIM:619381
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Large for gestational age, Failure to thrive, Joint hypermobility OMIM:607721
Cushing Disease
Increased body weight, Osteoporosis, Truncal obesity, Abdominal obesity ORPHA:96253
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
2-3 toe syndactyly, Increased body weight, Short foot, Broad hallux OMIM:300860
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Small proximal tibi... ORPHA:96334
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Stuve-Wiedemann Syndrome 1
Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Thickened cortex of lon... OMIM:601559
Smith-Magenis Syndrome
Increased body weight, Brachydactyly, Short palm OMIM:182290
Generalized Arterial Calcification Of Infancy
Osteomalacia, Failure to thrive in infancy, Abnormal hip joint morphology, Hypophosphatemic ricke... ORPHA:51608
Alstrom Syndrome
Obesity, Hyperostosis frontalis interna, Truncal obesity, Polydactyly OMIM:203800
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Failure to thrive in infancy,... ORPHA:99413
Turner Syndrome
Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Failure to thrive in infancy,... ORPHA:881
Mosaic Monosomy X
Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Failure to thrive in infancy,... ORPHA:99228
Monosomy X
Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Failure to thrive in infancy,... ORPHA:99226
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Metaphyseal chondrodyspl... ORPHA:93317
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Abnormal epiphysis morphology, Short finger, Hand polydactyly, Delayed proximal femoral epiphysea... ORPHA:226307
Carpenter Syndrome 2
Broad thumb, Preaxial polydactyly, Cutaneous finger syndactyly, Obesity, Bilateral postaxial poly... OMIM:614976
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Obesity, Postaxial hand pol... OMIM:181450
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Osteoporosis 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, Decreased body weight, Increased body weight, Weight loss, Osteoarthr... ORPHA:2298
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
17Q11 Microdeletion Syndrome
Osteopenia, Abnormality of the vertebral column, Osteolysis, Beaking of vertebral bodies T12-L3, ... ORPHA:97685
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Hellp Syndrome
Increased body weight ORPHA:244242
Carney Complex
Increased body weight, Tall stature, Abdominal obesity 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

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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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