Gene Summary

Name:
cAMP responsive element binding protein 3-like 1
Synonyms:
Oasis,  BBF-2 (drosophila) homolog

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Creb3l1tm1e(EUCOMM)Wtsi HET Early adult 7.64×10-10

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

Legacy Phenotype Associated Images

View all 109 images

Human diseases caused by Creb3l1 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 associated to Creb3l1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Joint hypermobility, Decreased calvarial ossification, Short stature, Rec... OMIM:616229

The table below shows human diseases predicted to be associated to Creb3l1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Mazabraud Syndrome
Fibrous dysplasia of the bones, Recurrent fractures, Bone pain ORPHA:57782
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures OMIM:619884
Osteogenesis Imperfecta, Type Xiv
Short stature, Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed skeletal maturation, Delayed puberty, Short stature, Osteoporosis, Reduced bone mineral d... ORPHA:2410
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility OMIM:259690
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex, Bone pain OMIM:174810
Monosomy 5P
Intrauterine growth retardation, Recurrent fractures, Joint hypermobility, Short stature, Abnorma... ORPHA:281
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Avascular necrosis, Osteochondrosis, Thickened cortex of... ORPHA:564003
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Bone pain, Recurrent fractures, Increased spinal bone density ORPHA:329475
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Increased susceptibility to fractures, Abn... ORPHA:210110
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility, Short stature ORPHA:166277
Osteogenesis Imperfecta, Type Xxii
Intrauterine growth retardation, Thin bony cortex, Multiple prenatal fractures, Short stature, Re... OMIM:619795
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Delayed skeletal maturation, Postnatal growth retardation, Joint hypermobility, Recur... ORPHA:2324
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Short stature, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Postnatal growth retardation, Osteopetrosis, Anemia, Inc... OMIM:620366
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteogenesis Imperfecta, Type Xxiii
Short stature, Osteopenia, Reduced bone mineral density, Recurrent fractures OMIM:620639
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Premature osteoa... OMIM:130060
Osteogenesis Imperfecta, Type V
Osteopenia, Joint hypermobility, Limited pronation/supination of forearm, Short stature, Hyperext... OMIM:610967
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Osteogenesis Imperfecta, Type Xix
Severe short stature, Osteopenia, Rhizomelia, Joint hypermobility, Multiple prenatal fractures, R... OMIM:301014
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures, Bone pain ORPHA:85193
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Pathologic fracture, Osteopenia, Bone cyst OMIM:618193
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Disproportionate short-li... OMIM:259410
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Increased susceptibility to fractures, Knee flexion contra... OMIM:609220
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612287
Osteogenesis Imperfecta, Type Ix
Disproportionate short-limb short stature, Bowing of limbs due to multiple fractures, Decreased c... OMIM:259440
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Bruck Syndrome 1
Ankle flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures, Knee... OMIM:259450
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty OMIM:615271
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Osteopetrosis, Autosomal Dominant 3
Anemia, Osteopenia, Recurrent fractures, Splenomegaly OMIM:618107
Hypophosphatemic Bone Disease
Short stature, Rickets, Osteomalacia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Short stature, Bone pain OMIM:193100
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Recurrent fractures, Severe short stature OMIM:126550
Juvenile Paget Disease
Coarse metaphyseal trabecularization, Cranial hyperostosis, Short stature, Osteoporosis, Recurren... ORPHA:2801
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612286
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal cortical bone morphology, Reduced bone mineral density, Osteolysis ORPHA:970
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Bruck Syndrome
Joint stiffness, Short stature, Osteoporosis, Arthrogryposis multiplex congenita, Recurrent fract... ORPHA:2771
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteogenesis Imperfecta, Type Iv
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Short stature, ... OMIM:166220
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... ORPHA:79106
Osteoporosis
Osteoporosis OMIM:166710
Gorham-Stout Disease
Osteopenia, Pathologic fracture, Osteomyelitis, Cortical irregularity, Osteolysis involving bones... ORPHA:73
Autosomal Recessive Primary Microcephaly
Short stature, Abnormal cortical bone morphology, Growth delay ORPHA:2512
Neonatal Severe Primary Hyperparathyroidism
Short stature, Splenomegaly, Recurrent fractures ORPHA:417
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Short stature, Osteoporosis ORPHA:2788
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Abnormal leukocyte morphology, Anemia, Generalized osteo... ORPHA:53
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio... OMIM:114000
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Lethal Congenital Contracture Syndrome Type 1
Short stature, Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures ORPHA:1486
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Short stature, Reduced bone mineral density, Recurrent fractures, Joint hypermobility OMIM:619115
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Intrauterine growth retardation, Joint hypermobility, ... ORPHA:2772
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Growth delay, Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Short stature, Reduced... ORPHA:157215
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Short Stature, Dauber-Argente Type
Short stature, Osteopenia, Reduced bone mineral density, Postnatal growth retardation OMIM:619489
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Abnormalit... ORPHA:2114
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Osteomyelitis, Hepa... OMIM:259710
Osteogenesis Imperfecta, Type Xi
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Short stature, Recurrent ... OMIM:610968
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Osteomalacia, Short stature, Recurrent fractures, Bone pain OMIM:613388
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Growth delay,... OMIM:600081
Metatropic Dysplasia
Severe short stature, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Cam... ORPHA:2635
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b... ORPHA:1310
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Cranio-Osteoarthropathy
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis ORPHA:1525
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteolysis, Osteomalacia, Short stature, Bone cyst, Recurre... ORPHA:93160
Osteogenesis Imperfecta, Type Xii
Hypermobility of interphalangeal joints, Osteoporosis, Generalized osteoporosis, Short stature, R... OMIM:613849
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Intrauterine growth retardation, Recurrent fractures OMIM:620368
Renal Tubular Acidosis, Proximal
Short stature, Rickets, Osteomalacia OMIM:179830
Pyle Disease
Reduced bone mineral density, Limited elbow extension, Thin bony cortex OMIM:265900
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Bowing of limbs due... OMIM:259420
Osteosarcoma
Pathologic fracture, Osteolysis ORPHA:668
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Adamantinoma
Pathologic fracture, Bone pain ORPHA:55881
Solitary Bone Cyst
Pathologic fracture, Unicameral bone cyst, Bone pain ORPHA:83468
Cole-Carpenter Syndrome 1
Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Short stature, Reduced bone miner... OMIM:112240
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Short stature, Increased bone mi... ORPHA:1782
Mycetoma
Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Osteoporosis, Bone cyst, Ab... ORPHA:2583
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Variant Abeta2M Amyloidosis
Pathologic fracture, Knee pain, Wrist pain, Multiple bony cystic lesions ORPHA:314652
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty OMIM:615270
Achondrogenesis Type 1A
Severe short stature, Abnormal enchondral ossification, Recurrent fractures ORPHA:93299
Infantile Systemic Hyalinosis
Severe short stature, Osteopenia, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increas... ORPHA:2176
Maffucci Syndrome
Osteolysis, Short stature, Growth delay, Recurrent fractures, Bone pain ORPHA:163634
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Postnatal growth reta... ORPHA:289157
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Increased susceptibility to fractures, Oste... OMIM:602080
Grant Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Short stature, Decreased skull ossification ORPHA:2097
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Disproportionate short-limb short stature, Recurrent fractures, Joint hypermobility OMIM:619131
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Increased susceptibility to fractures, Calvarial hyperostosis, Short stature... ORPHA:52430
Majeed Syndrome
Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomegaly, Synovitis, Cong... ORPHA:77297
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ... OMIM:241530
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Recurrent fractures, Thin bony cortex, Joint hypermobility OMIM:617952
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteogenesis Imperfecta, Type Xv
Short stature, Recurrent fractures, Bowing of limbs due to multiple fractures, Joint hypermobility OMIM:615220
Hypophosphatasia
Short stature, Craniosynostosis, Anemia, Recurrent fractures ORPHA:436
Hypercholanemia, Familial 1
Rickets OMIM:607748
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed skeletal maturation, Delayed puberty, Short stature, Osteoporosis, Reduced bone mineral d... ORPHA:2235
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperostosis OMIM:176920
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture, Osteopetrosis, Ca... OMIM:259700
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Reduced bone mineral density, Recurrent fractures ORPHA:137608
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Joint stiffness, Lymphopenia, Leukopenia, Splenomegaly, Joint hyper... OMIM:620210
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Short stature, Osteoporosis, Recurrent fractures, Flexion contracture of... ORPHA:3409
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Iron deficiency anemia, Growth delay, Bone pain ORPHA:89937
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Flexion contracture, Multiple prenatal fractures OMIM:271225
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones, Bone pain OMIM:167250
Osteogenesis Imperfecta, Type I
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Finger joint hypermobilit... OMIM:166200
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Postnatal growth retardation, ... OMIM:616294
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Rickets, Recurrent fractures OMIM:268315
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Marshall-Smith Syndrome
Increased susceptibility to fractures, Joint hypermobility, Accelerated skeletal maturation, Cran... ORPHA:561
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Abnormal bone structure, Avascular... ORPHA:83451
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... OMIM:300009
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Bone cyst OMIM:221770
Geroderma Osteodysplastica
Severe short stature, Joint hypermobility, Abnormal bone ossification, Osteoporosis, Growth delay... ORPHA:2078
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis, Bone pain OMIM:616833
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Thin bony cortex, Delayed skeletal maturation OMIM:619638
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Joint hypermobility, Decreased calvarial ossification, Short stature, Rec... OMIM:616229
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Growth delay,... OMIM:264700
Aggressive Systemic Mastocytosis
Abnormal mast cell morphology, Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hyperspleni... ORPHA:98850
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Growth delay OMIM:602722
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Short stature, Decreased mean corpuscular volume, H... OMIM:611590
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Growth delay,... OMIM:277440
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving tarsal bones, Increased susceptibility to fra... ORPHA:371428
Insulin-Like Growth Factor I Deficiency
Osteopenia, Delayed skeletal maturation, Postnatal growth retardation, Intrauterine growth retard... OMIM:608747
Dysplasia Epiphysealis Hemimelica
Joint stiffness, Accelerated skeletal maturation, Osteoarthritis, Tarsal synostosis, Recurrent fr... ORPHA:1822
Fanconi Renotubular Syndrome 3
Short stature, Rickets, Growth delay OMIM:615605
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Geroderma Osteodysplasticum
Severe short stature, Osteopenia, Increased susceptibility to fractures, Camptodactyly, Osteoporo... OMIM:231070
Osteogenesis Imperfecta, Type Xiii
Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Short stature, Osteoporosi... OMIM:614856
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Delayed skeletal maturation, Postnatal growth retardation, Intrauterine growth retard... OMIM:614732
Grange Syndrome
Increased susceptibility to fractures ORPHA:79094
Gaucher Disease Type 1
Splenic infarction, Osteopenia, Delayed skeletal maturation, Pathologic fracture, Hepatosplenomeg... ORPHA:77259
Hypophosphatasia, Infantile
Unossified vertebral bodies, Disproportionate short-limb short stature, Increased susceptibility ... OMIM:241500
Osteogenesis Imperfecta, Type Viii
Osteopenia, Disproportionate short-limb short stature, Decreased calvarial ossification, Decrease... OMIM:610915
Oncogenic Osteomalacia
Pathologic fracture, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Bone ... ORPHA:352540
Al-Gazali Syndrome
Osteopenia, Wrist flexion contracture, Recurrent fractures, Proximal radio-ulnar synostosis OMIM:609465
Mccune-Albright Syndrome
Pathologic fracture, Craniofacial hyperostosis, Polyostotic fibrous dysplasia OMIM:174800
Cholestasis, Progressive Familial Intrahepatic, 1
Short stature, Osteopenia, Rickets, Splenomegaly OMIM:211600
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures OMIM:304700
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Carpal synostosis, Increased susceptibility to fractures, Joint hypermobility, Joint ... OMIM:615349
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Disproportionate short-limb short stature, Recurrent fractures, ... OMIM:166210
Gaucher Disease Type 3
Delayed skeletal maturation, Pancytopenia, Increased susceptibility to fractures, Splenomegaly, D... ORPHA:77261
Osteogenesis Imperfecta, Type Xvii
Joint hypermobility, Short stature, Osteoporosis, Reduced bone mineral density, Recurrent fractures OMIM:616507
Weismann-Netter Syndrome
Severe short stature, Anemia, Abnormal cortical bone morphology ORPHA:3344
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Pathologic fracture, Postnatal growth retardation, Intrauterine growth retardation, I... OMIM:612199
Bcard Syndrome
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Pathologic fract... OMIM:612394
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture OMIM:607278
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Short stature, Recurrent fra... OMIM:239000
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Short stature, Growth delay, Recurrent fractures OMIM:163200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Abnormal mast cell morphology, Chronic myelomonocytic leukemia, Leukocytosis, ... ORPHA:98849
Intermediate Nemaline Myopathy
Flexion contracture, Arthrogryposis multiplex congenita, Multiple prenatal fractures ORPHA:171433
Autosomal Recessive Kenny-Caffey Syndrome
Delayed skeletal maturation, Postnatal growth retardation, Intrauterine growth retardation, Decre... ORPHA:93324
Dysosteosclerosis
Osteopenia, Disproportionate short stature, Sclerosis of hand bone, Sclerosis of skull base, Incr... OMIM:224300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Intrauterine growth retardation, Decreased skull ossification, Multiple prenatal frac... OMIM:616897
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Short stature, Recurrent fractures, Joint hypermobility OMIM:619120
Autosomal Recessive Cutis Laxa Type 2A
Postnatal growth retardation, Intrauterine growth retardation, Increased susceptibility to fractu... ORPHA:357058
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Osteomyelitis, Joint hypermobility, Eosinophilia, Craniosynostosis, Recurrent fractures ORPHA:2314
Pycnodysostosis
Coronal craniosynostosis, Rhizomelia, Disproportionate short-limb short stature, Intrauterine gro... ORPHA:763
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Arthrogryposis multiplex congenita, Multiple prenatal fractures OMIM:616867
Hypophosphatemic Rickets And Hyperparathyroidism
Short stature, Hypophosphatemic rickets, Rickets, Bone pain OMIM:612089
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Pathologic fracture, Cortical irregularity, Fibrous dysplasia of the bones... ORPHA:249
Osteogenesis Imperfecta, Type Vi
Recurrent fractures, Increased susceptibility to fractures, Joint hypermobility OMIM:613982
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Osteopenia, Pathologic fracture, Knee flexion contracture, Hip contracture OMIM:156400
Dermatosparaxis Ehlers-Danlos Syndrome
Severe short stature, Osteopenia, Rickets, Osteomalacia, Joint stiffness, Avascular necrosis of t... ORPHA:1901
Distal Renal Tubular Acidosis
Rickets, Growth delay, Osteomalacia, Hemolytic anemia, Increased susceptibility to fractures, Sho... ORPHA:18
Nestor-Guillermo Progeria Syndrome
Growth delay, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement... OMIM:614008
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Intrauterine growth... OMIM:312150
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Familial Papillary Or Follicular Thyroid Carcinoma
Recurrent fractures, Bone pain ORPHA:319487
Fanconi Renotubular Syndrome 1
Short stature, Rickets, Osteomalacia OMIM:134600
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Int... ORPHA:3206
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Limitation of joint mobility, Limb pain, Avascular necrosis of the capital femoral epiphysis, Inc... ORPHA:93315
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Lymphopenia, Increased susceptibility to fractures, Joint hype... OMIM:619752
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Joint hypermobility, Shor... OMIM:259770
Sapho Syndrome
Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Arthrit... ORPHA:793
Dent Disease
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... ORPHA:1652
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex ORPHA:85184
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Intrauterine growth... OMIM:253290
Brittle Cornea Syndrome
Camptodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hypermobility ORPHA:90354
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Abnormal cortical bone morphology, Increased susceptibility to fractures ORPHA:2769
Osteootohepatoenteric Syndrome
Anemia, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral density, Recurr... OMIM:619377
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hepatosplenomegaly, Hypophosphatemic rickets, Osteoarthritis, Short statur... OMIM:307800
Melnick-Needles Syndrome
Craniofacial hyperostosis, Abnormal cortical bone morphology, Joint hypermobility, Osteolytic def... ORPHA:2484
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Episodic hemolytic anemia, Short stature, Craniosynostosis, Recurrent fractures ORPHA:251004
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Shoulder flexion contracture, Elbow flexion contracture, Postnatal... OMIM:193700
Neuropathy, Hereditary Sensory And Autonomic, Type V
Painless fractures due to injury, Osteomyelitis, Osteoarthritis, Septic arthritis, Recurrent frac... OMIM:608654
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Leukemia, Increased susceptibil... ORPHA:2909
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures ORPHA:97290
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Mccune-Albright Syndrome
Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Pancytopenia, Fibrous dysplasia... ORPHA:562
Porphyria, Congenital Erythropoietic
Osteopenia, Joint contracture of the hand, Pathologic fracture, Reduced erythrocyte uroporphyrino... OMIM:263700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Increased susceptibility to fractures, Postnatal growth retardation, Generalized join... ORPHA:251028
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Abnormal cortical bone morphology, Wide anterior fontanel, Growth delay OMIM:614886
Pachydermoperiostosis
Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Splenomegaly, Art... ORPHA:2796
Antley-Bixler Syndrome
Camptodactyly of finger, Joint stiffness, Elbow ankylosis, Craniosynostosis, Recurrent fractures ORPHA:83
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Anemia, Growth ... OMIM:612301
Rin2 Syndrome
Increased susceptibility to fractures, Joint hypermobility ORPHA:217335
Hereditary Sensory And Autonomic Neuropathy Type 1
Pathologic fracture, Osteomyelitis, Limb pain ORPHA:36386
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thin bony cortex, Short stature, Osteoporosis, Recurrent fractures, Hyperextensibility of the fin... OMIM:309583
Gaucher Disease, Type I
Pathologic fracture, Hypersplenism, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Avascul... OMIM:230800
Dermatitis Herpetiformis
Microcytic anemia, Recurrent fractures, Bone pain ORPHA:1656
Greenberg Dysplasia
Fractured rib, Ectopic ossification, Disproportionate short-limb short stature, Rhizomelia, Super... OMIM:215140
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Rickets, Extramedullary hematopoiesis ORPHA:79303
Classic Pantothenate Kinase-Associated Neurodegeneration
Increased susceptibility to fractures ORPHA:216866
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Splenic cyst, Subperiosteal bone formation, Recurrent fractures OMIM:618188
H Syndrome
Histiocytosis, Delayed skeletal maturation, Osteolysis, Microcytic anemia, Hepatosplenomegaly, De... ORPHA:168569
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Generalized osteoporosis, Osteopenia, Rhizomelia, Delayed skeletal maturation, Elbow flexion cont... OMIM:245600
Familial Dysautonomia
Growth delay, Recurrent fractures, Avascular necrosis, Osteolysis ORPHA:1764
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Splenomegaly OMIM:607765
Kallmann Syndrome
Delayed puberty, Reduced bone mineral density, Recurrent fractures, Delayed skeletal maturation ORPHA:478
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Rickets OMIM:616026
Multiple Myeloma
Osteopenia, Pathologic fracture, Splenomegaly, Anemia, Bone pain ORPHA:29073
Gaucher Disease
Pancytopenia, Abnormal bone structure, Osteopenia, Delayed skeletal maturation, Osteomyelitis, Sp... ORPHA:355
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi... OMIM:259600
Cystinosis
Short stature, Delayed puberty, Rickets ORPHA:213
Cleidocranial Dysplasia
Decreased skull ossification, Spina bifida occulta, Short stature, Osteoporosis, Recurrent fractures ORPHA:1452
Lysinuric Protein Intolerance
Hemophagocytosis, Delayed skeletal maturation, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia... OMIM:222700
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Osteoporosis, Increased susceptibility to fractures ORPHA:189427
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Recurrent fractures ORPHA:453510
Celiac Disease, Susceptibility To, 1
Rickets, Postnatal growth retardation, Macrocytic anemia, Iron deficiency anemia, Delayed puberty... OMIM:212750
Primary Fanconi Renotubular Syndrome
Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures, Growth delay, Bone... ORPHA:3337
Wilson Disease
Pathologic fracture, Splenomegaly, Arthritis, Thrombocytopenia, Anemia, Bone pain ORPHA:905
Campomelic Dysplasia
Tracheomalacia, Poorly ossified cervical vertebrae, Short stature, Tracheobronchomalacia, Recurre... ORPHA:140
Cole-Carpenter Syndrome
Short stature, Intrauterine growth retardation, Recurrent fractures, Joint hypermobility ORPHA:2050
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Decreased calvarial ossification, Multiple prenatal fractures, Short stat... OMIM:610682
Prader-Willi Syndrome
Osteoporosis, Osteopenia, Short stature, Increased susceptibility to fractures ORPHA:739
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteomalacia, Iron deficiency anemia, Osteoporosis, Growth delay ORPHA:309031
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Osteopenia, Gout, Increased susceptibility to fractures, A... ORPHA:79259
Osteoglophonic Dysplasia
Severe short stature, Osteopenia, Rhizomelia, Camptodactyly of finger, Increased susceptibility t... OMIM:166250
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
X-Linked Hypophosphatemia
Disproportionate short stature, Limitation of joint mobility, Rickets, Growth delay, Generalized ... ORPHA:89936
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Leukemia, Delayed skeletal matu... ORPHA:221016
Osteogenesis Imperfecta, Type X
Osteopenia, Rhizomelia, Joint hypermobility, Decreased calvarial ossification, Generalized joint ... OMIM:613848
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Tarsal sclerosis, Delayed skeletal maturation, Sclerosis of finger phalanx, Increased susceptibil... ORPHA:404454
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Bone pain OMIM:259900
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint hypermobility, Radioulnar synostosis, Accelerated skeletal maturation, Short st... OMIM:130070
Hamamy Syndrome
Osteopenia, Hypochromic anemia, Microcytic anemia, Craniosynostosis, Recurrent fractures OMIM:611174
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Splenomegaly, Osteopetrosis, Anemia, Craniosynostosis, Reduced bone mineral density... ORPHA:667
Dyskeratosis Congenita
Coarse metaphyseal trabecularization, Intrauterine growth retardation, Splenomegaly, Anemia, Thro... ORPHA:1775
Stuve-Wiedemann Syndrome 1
Pathologic fracture, Elbow flexion contracture, Intrauterine growth retardation, Knee flexion con... OMIM:601559
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Elbow flexion contracture, Multiple joint contractures, Increased susceptibility to f... ORPHA:536471
Osteogenesis Imperfecta
Osteopenia, Rhizomelia, Growth delay, Fractures of the long bones, Intrauterine growth retardatio... ORPHA:666
Severe Congenital Nemaline Myopathy
Flexion contracture, Arthrogryposis multiplex congenita, Multiple prenatal fractures ORPHA:171430
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Splenomegaly, Thin bony cortex, Sea-blue histiocytosis OMIM:230600
Alkaptonuria
Joint stiffness, Hemolytic anemia, Increased susceptibility to fractures, Methemoglobinemia, Arth... ORPHA:56
Glycerol Kinase Deficiency
Pathologic fracture, Osteoporosis, Short stature, Growth delay OMIM:307030
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tracheomalacia, Postnatal growth retardation, Multiple joint contractures, Joint hype... ORPHA:536467
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Increased susceptibility to fractures, Short stature, Increased ... OMIM:119600
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Arthrogryposis multiplex congenita, Multiple prenatal fractures OMIM:616866
Premature Aging Syndrome, Penttinen Type
Delayed skeletal maturation, Flexion contracture of finger, Joint contracture, Osteoporosis, Oste... OMIM:601812
Fanconi-Bickel Syndrome
Osteopenia, Rickets, Growth delay ORPHA:2088
Blue Rubber Bleb Nevus
Pathologic fracture, Iron deficiency anemia, Thrombocytopenia OMIM:112200
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Avascular necrosis of the capital femoral epiphysis, Joint stiffness, ... ORPHA:581
Grange Syndrome
Recurrent fractures, Increased susceptibility to fractures OMIM:602531
Hajdu-Cheney Syndrome
Osteopenia, Coarse metaphyseal trabecularization, Osteolysis, Splenomegaly, Joint hypermobility, ... ORPHA:955
Brittle Cornea Syndrome 2
Recurrent fractures, Joint hypermobility OMIM:614170
Craniopharyngioma
Postnatal growth retardation, Increased susceptibility to fractures, Proportionate short stature,... ORPHA:54595
Hajdu-Cheney Syndrome
Osteopenia, Foot acroosteolysis, Pathologic fracture, Joint hypermobility, Osteolytic defects of ... OMIM:102500
Mucolipidosis Ii Alpha/Beta
Osteopenia, Limitation of joint mobility, Growth delay, Pathologic fracture, Splenomegaly, Severe... OMIM:252500
Exudative Vitreoretinopathy 1
Recurrent fractures OMIM:133780
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Limitation of joint mobility, Delayed skeletal maturation, Cranial hyperost... ORPHA:2658
Osteogenesis Imperfecta, Type Xx
Intrauterine growth retardation, Disproportionate short-limb short stature, Multiple prenatal fra... OMIM:618644
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Delayed skeletal maturation, Pathologic fracture, Hypersplenism, Splenomegaly, Acute ... ORPHA:77293
Autosomal Dominant Kenny-Caffey Syndrome
Growth delay, Delayed skeletal maturation, Postnatal growth retardation, Intrauterine growth reta... ORPHA:93325
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Osteoporosis, Joint stiffness, Recurrent fractures ORPHA:394
Hallermann-Streiff Syndrome
Recurrent fractures, Reduced bone mineral density, Tracheomalacia, Proportionate short stature ORPHA:2108
Fanconi-Bickel Syndrome
Postnatal growth retardation, Rickets, Osteomalacia OMIM:227810
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures, Bone pain ORPHA:416
Menkes Disease
Osteomyelitis, Intrauterine growth retardation, Joint hypermobility, Osteoporosis, Tarsal synosto... ORPHA:565
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Rickets, Camptodactyly of finger, Pathologic fracture, Osteomalaci... OMIM:309000
Hypocalciuric Hypercalcemia, Familial, Type Iii
Bone pain, Osteomalacia OMIM:600740
Neu-Laxova Syndrome
Osteopenia, Rickets, Osteomalacia, Intrauterine growth retardation, Osteoporosis, Flexion contrac... ORPHA:2671
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Painless fractures due to injury, Increased susceptibility to fractures, Short stature, Osteomyel... OMIM:256810
Weill-Marchesani Syndrome 1
Short stature, Joint stiffness, Thin bony cortex, Proportionate short stature OMIM:277600
Spondyloocular Syndrome
Short stature, Osteopenia, Femur fracture, Thin bony cortex OMIM:605822
Cerebrotendinous Xanthomatosis
Osteoporosis, Osteopenia, Increased susceptibility to fractures ORPHA:909
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Pathologic fracture, Osteopenia OMIM:614231
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Growth delay, Delayed skeletal maturation, Intrauterine growth retardation, ... OMIM:613658
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Severe short stature, Carpal synostosis, Pathologic fracture, Joint hypermobility, Delayed proxim... OMIM:271640
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Anemia, Osteopetrosis, Thrombocytopenia, Elliptocytosis, Short stature,... ORPHA:2785
X-Linked Intellectual Disability, Snyder Type
Camptodactyly, Osteoporosis, Short stature, Recurrent fractures ORPHA:3063
Neuroblastoma
Pathologic fracture, Anemia, Thrombocytopenia, Bone pain ORPHA:635
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Leukemia, Delayed skeletal matu... ORPHA:221008
Faciocardiomelic Syndrome
Dysharmonic skeletal maturation, Osteopenia, Thin bony cortex OMIM:612731
Congenital Disorder Of Glycosylation, Type Iib
Recurrent fractures OMIM:606056
Keppen-Lubinsky Syndrome
Postnatal growth retardation, Flexion contracture, Increased susceptibility to fractures ORPHA:435628
Hyperparathyroidism, Neonatal Severe
Anemia, Splenomegaly, Recurrent fractures OMIM:239200
Marshall-Smith Syndrome
Accelerated skeletal maturation, Large sternal ossification centers, Short stature, Craniosynosto... OMIM:602535
Lysinuric Protein Intolerance
Osteopenia, Hemophagocytosis, Delayed skeletal maturation, Pathologic fracture, Hepatosplenomegal... ORPHA:470
Oculodentodigital Dysplasia
Abnormal cortical bone morphology, Hyperostosis, Cranial hyperostosis, Camptodactyly of finger ORPHA:2710
Weill-Marchesani Syndrome 2
Delayed skeletal maturation, Elbow flexion contracture, Joint stiffness, Proportionate short stat... OMIM:608328
Infantile Nephropathic Cystinosis
Rickets, Growth delay ORPHA:411629
Frank-Ter Haar Syndrome
Osteopenia, Cortical irregularity, Camptodactyly, Osteoporosis, Growth delay, Wide anterior fontanel OMIM:249420
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Joint stiffness, Joint hypermobility, Anemia, Delayed puberty, Arthritis, Thrombocy... ORPHA:534
Neurofibromatosis Type 1
Osteopenia, Chronic myelogenous leukemia, Leukemia, Joint stiffness, Delayed puberty, Short statu... ORPHA:636
Multiple Endocrine Neoplasia Type 1
Reduced bone mineral density, Increased susceptibility to fractures, Osteolysis ORPHA:652
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Joint hypermobility, Eosinophilia, Craniosynostosis, Recurrent fractures OMIM:147060
Craniotubular Dysplasia, Ikegawa Type
Short stature, Sclerosis of skull base, Thin bony cortex OMIM:619727
Occipital Horn Syndrome
Synostosis of joints, Osteopenia, Rickets, Osteomalacia, Avascular necrosis of the capital femora... ORPHA:198
Autosomal Recessive Cutis Laxa Type 1
Pathologic fracture, Intrauterine growth retardation, Joint hypermobility ORPHA:90349
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Severe short stature, Osteopenia, Rickets, Delayed skeletal maturation, Osteomalacia, Intrauterin... ORPHA:2636
Aspartylglucosaminuria
Delayed skeletal maturation, Joint stiffness, Abnormal cortical bone morphology, Splenomegaly, Ar... ORPHA:93
Wilson Disease
Osteomalacia, Splenomegaly, Joint hypermobility, Osteoarthritis, Thrombocytopenia, Anemia, Osteop... OMIM:277900
Cystinosis, Nephropathic
Rickets, Delayed skeletal maturation, Hypophosphatemic rickets, Splenomegaly, Delayed puberty, Sh... OMIM:219800
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Osteomalacia, Osteomyelitis, Decreased proportion of naive T c... OMIM:619381
Aspartylglucosaminuria
Delayed skeletal maturation, Pathologic fracture, Joint hypermobility, Neutropenia, Short stature... OMIM:208400
Hypomagnesemia 3, Renal
Short stature, Rickets OMIM:248250
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Fused cervical vertebrae, O... ORPHA:51608
Mowat-Wilson Syndrome
Growth delay, Delayed skeletal maturation, Camptodactyly, Asplenia, Flexion contracture, Short st... ORPHA:2152

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 Creb3l1

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 Creb3l1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Creb3l1tm1e(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Creb3l1tm1e(EUCOMM)Wtsi Creb3l1tm1e(EUCOMM)Wtsi