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Gene: Creb3l1 MGI:1347062

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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 Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Legacy Phenotype Associated Images
Creb3l1tm1e(EUCOMM)Wtsi
WT, Male, WTSI
Creb3l1tm1e(EUCOMM)Wtsi
WT, Male, WTSI
Creb3l1tm1e(EUCOMM)Wtsi
WT, Male, WTSI
Creb3l1tm1e(EUCOMM)Wtsi
WT, Male, WTSI
Creb3l1tm1e(EUCOMM)Wtsi
WT, Male, WTSI

View all 109 images

Creb3l1tm1e(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Creb3l1tm1e(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Creb3l1tm1e(EUCOMM)Wtsi
abnormal hair follicle morphology, HOM, Female, WTSI
Creb3l1tm1e(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI
Creb3l1tm1e(EUCOMM)Wtsi
abnormal cornea morphology, HET, Female, WTSI

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, Short stature, Recurrent fractures, Decreased calvarial ossification, Joi... 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
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures 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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Short stature, 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
Short stature, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Reduced bone miner... ORPHA:2410
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Familial Expansile Osteolysis
Pathologic fracture, Bone pain, Osteolysis, Thin bony cortex OMIM:174810
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Avascular necrosis, Arthritis... ORPHA:564003
Monosomy 5P
Short stature, Recurrent fractures, Joint hyperflexibility, Abnormality of bone mineral density, ... ORPHA:281
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Bone pain, Recurrent fractures ORPHA:329475
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
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Osteogenesis Imperfecta, Type Xxii
Short stature, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, In... OMIM:619795
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Short stature ORPHA:2204
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ... OMIM:620366
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Recurrent fractures, Postnatal growth retardation, Delayed skeletal maturation, Joint... ORPHA:2324
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Pr... OMIM:130060
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Hyperext... OMIM:610967
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia ORPHA:1802
Osteogenesis Imperfecta, Type Xix
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Multiple prenatal fractures, J... OMIM:301014
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Ankle flexion contracture, Osteoporosis, Elbow flex... OMIM:259450
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Idiopathic Juvenile Osteoporosis
Bone pain, Osteoporosis, Recurrent fractures ORPHA:85193
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Pathologic fracture, Bone cyst OMIM:618193
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Decreased calvarial ossif... OMIM:259410
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Growth delay,... OMIM:611490
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Increased susceptibili... OMIM:609220
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim... OMIM:259440
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis, Delayed puberty OMIM:615271
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Osteoporosis, Recurrent fractures OMIM:126550
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Splenomegaly, Recurrent fractures, Anemia OMIM:618107
Hypophosphatemic Bone Disease
Short stature, Osteomalacia, Rickets OMIM:146350
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Juvenile Paget Disease
Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Coarse metaphyseal trabec... ORPHA:2801
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Osteomalacia, Bone pain, Rickets, Hypophosphatemic rickets OMIM:193100
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Mandibular oste... ORPHA:53
Bruck Syndrome
Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Arthrogryposis multiplex conge... ORPHA:2771
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Eiken Syndrome
Abnormal trabecular bone morphology, Short stature, Delayed epiphyseal ossification, Limited elbo... ORPHA:79106
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Short stature, Recurrent fractures ORPHA:417
Osteoporosis
Osteoporosis OMIM:166710
Osteogenesis Imperfecta, Type Iv
Short stature, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fra... OMIM:166220
Autosomal Recessive Primary Microcephaly
Growth delay, Abnormal cortical bone morphology, Short stature ORPHA:2512
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Short stature, Osteoporosis, Increased susceptibility to fractures ORPHA:2788
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Bone pain, Osteolysis, ... ORPHA:73
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Limitation of joint mobility, Short stature, Recurrent fractures ORPHA:1486
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Eosinophilia, Craniosynostosis, Recurrent fractures, Joint hypermobility OMIM:147060
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Joint hyperflexibility, Decreased calvarial ossification, Disproportionate s... ORPHA:2772
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Short stature, Recurrent fractures, Joint hypermobility, Reduced bone mineral density OMIM:619115
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Short stature, Osteomalacia, Bone pain, Reduced bone mineral density, Growth delay, Hypophosphate... ORPHA:157215
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Osteopenia, Short stature, Reduced bone mineral density OMIM:619489
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Metatropic Dysplasia
Severe short stature, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness,... ORPHA:2635
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Increased susceptibility to fractures OMIM:610968
Hypophosphatemic Rickets, X-Linked Recessive
Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone ... OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Growth delay, Sparse bo... OMIM:600081
Fanconi Renotubular Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Bone pain OMIM:613388
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Cranio-Osteoarthropathy
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:1525
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Intrauterine growth retardation, Recurrent fractures OMIM:620368
Hypocalcemic Vitamin D-Resistant Rickets
Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Bone pain, Osteolysis, Abnormal bone... ORPHA:93160
Pyle Disease
Limited elbow extension, Thin bony cortex, Reduced bone mineral density OMIM:265900
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Wide anterior ... OMIM:259420
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Osteoporosis, Genera... OMIM:613849
Osteosarcoma
Pathologic fracture, Osteolysis ORPHA:668
Tyrosinemia Type 1
Splenomegaly, Rickets of the lower limbs ORPHA:882
Adamantinoma
Pathologic fracture, Bone pain ORPHA:55881
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal ossification, Ricke... ORPHA:289157
Solitary Bone Cyst
Pathologic fracture, Bone pain, Unicameral bone cyst ORPHA:83468
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Co... ORPHA:1782
Maffucci Syndrome
Short stature, Recurrent fractures, Bone pain, Osteolysis, Growth delay ORPHA:163634
Mycetoma
Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab... ORPHA:2583
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis, Delayed puberty OMIM:615270
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Bone pain, Osteolysis, Increased susceptibility to fractures, Sclero... OMIM:602080
Variant Abeta2M Amyloidosis
Knee pain, Pathologic fracture, Multiple bony cystic lesions, Wrist pain ORPHA:314652
Achondrogenesis Type 1A
Severe short stature, Recurrent fractures, Abnormal enchondral ossification ORPHA:93299
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Generalized osteoporosis, Joint hypermobility OMIM:617952
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Osteolysis, Increased susceptibility to fractures, Calvarial hyperostosis, Patholo... ORPHA:52430
Cole-Carpenter Syndrome 1
Osteopenia, Short stature, Recurrent fractures, Reduced bone mineral density, Coronal craniosynos... OMIM:112240
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Osteoporosis, Disproportionate short-limb short stature, Joint hypermobility OMIM:619131
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joi... ORPHA:2176
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification, Short st... ORPHA:2097
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Growth delay, Sparse bo... OMIM:241530
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... ORPHA:77297
Hypophosphatasia
Anemia, Short stature, Recurrent fractures, Craniosynostosis ORPHA:436
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Short stature, Recurrent fractures, Joint hypermobility OMIM:615220
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Short stature, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Reduced bone miner... ORPHA:2235
Hypercholanemia, Familial 1
Rickets OMIM:607748
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex OMIM:176920
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Reduced bone mineral density ORPHA:137608
Urban-Rogers-Meyer Syndrome
Short stature, Camptodactyly of finger, Recurrent fractures, Osteoporosis, Flexion contracture of... ORPHA:3409
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Reduced bone mineral ... OMIM:620210
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bone pain, Rickets, Growth delay, Iron deficiency anemia ORPHA:89937
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Paget Disease Of Bone 3
Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis OMIM:167250
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Marshall-Smith Syndrome
Craniosynostosis, Accelerated skeletal maturation, Increased susceptibility to fractures, Reduced... ORPHA:561
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Recurrent fractures, Rickets OMIM:268315
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Avas... ORPHA:83451
Dent Disease 1
Short stature, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone ... OMIM:300009
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit... OMIM:166200
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Flexion contracture, Multiple prenatal fractures OMIM:271225
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... OMIM:259700
Fanconi Renotubular Syndrome 3
Growth delay, Short stature, Rickets OMIM:615605
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Bone cyst OMIM:221770
Paget Disease Of Bone 6
Osteoarthritis, Bone pain, Recurrent fractures OMIM:616833
Cole-Carpenter Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Lambdoidal craniosy... OMIM:616294
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Geroderma Osteodysplastica
Severe short stature, Recurrent fractures, Osteoporosis, Growth delay, Joint hyperflexibility, Ab... ORPHA:2078
Spondylometaphyseal Dysplasia, Pagnamenta Type
Delayed skeletal maturation, Rhizomelia, Thin bony cortex OMIM:619638
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Severe short stature, Recurrent fractures, O... OMIM:231070
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Growth delay, Sparse bo... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Growth delay, Sparse bo... OMIM:277440
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Rickets OMIM:602722
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Decreased mean cor... OMIM:611590
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Accelerated skeletal maturation, Joint stiffness, Osteoar... ORPHA:1822
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Bone pain, Osteoporosis, Osteolysis,... ORPHA:98850
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Short stature, Recurrent fractures, Decreased calvarial ossification, Joi... OMIM:616229
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short stature, Postnatal growth retardation, Delayed skeletal maturation, Intrauterin... OMIM:608747
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Increased su... ORPHA:371428
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Short stature, Recurrent fractures, Osteoporosis, Reduced bone mi... OMIM:614856
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Craniosynostosis, Postnatal growth retardation, Delayed skeletal maturation, Intraute... OMIM:614732
Hypophosphatasia, Infantile
Craniosynostosis, Increased susceptibility to fractures, Decreased calvarial ossification, Dispro... OMIM:241500
Grange Syndrome
Increased susceptibility to fractures ORPHA:79094
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Wide anterior fontane... OMIM:610915
Osteogenesis Imperfecta, Type Vi
Joint laxity, Increased susceptibility to fractures OMIM:613982
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Bone pain, Pathologic fracture, Increased susceptibility to fract... ORPHA:352540
Mccune-Albright Syndrome
Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Pathologic fracture OMIM:174800
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Short stature, Postnatal growth retardation, Thrombocytopenia, Osteoporosis, Increase... OMIM:612199
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Splenomegaly, Short stature, Rickets OMIM:211600
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Thrombocytopenia, Delayed skeletal maturation, Sple... ORPHA:77261
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Short stature, Recurrent fractures, Osteoporosis, Reduced bone mineral density OMIM:616507
Osteogenesis Imperfecta, Type Ii
Multiple prenatal fractures, Recurrent fractures, Disproportionate short-limb short stature, Abse... OMIM:166210
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Short stature, Advanced ossification of carpal bones, Increased suscept... OMIM:615349
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures OMIM:304700
Weismann-Netter Syndrome
Abnormal cortical bone morphology, Severe short stature, Anemia ORPHA:3344
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Wrist flexion contracture, Recurrent fractures OMIM:609465
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Postnatal growth... OMIM:612394
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Short stature, Recurrent fractures, Growth delay, Hypophosphatemic rickets OMIM:163200
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Disproportionate short stature, Increased... OMIM:224300
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture OMIM:607278
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Short stature, Recurrent fractures, Ankylosis, Osteop... OMIM:239000
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Intermediate Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture ORPHA:171433
Autosomal Recessive Kenny-Caffey Syndrome
Postnatal growth retardation, Delayed skeletal maturation, Growth delay, Cortical thickening of l... ORPHA:93324
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Short stature, Recurrent fractures, Joint hypermobility OMIM:619120
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Fractured radius, Multiple prenatal fractures, Flexion contracture, Intrauterine grow... OMIM:616897
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Eosinophilia, Joint hyperflexib... ORPHA:2314
Autosomal Recessive Cutis Laxa Type 2A
Postnatal growth retardation, Wide anterior fontanel, Increased susceptibility to fractures, Intr... ORPHA:357058
Pycnodysostosis
Joint laxity, Increased bone mineral density, Rhizomelia, Generalized osteosclerosis, Increased s... ORPHA:763
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Bone pain, Short stature, Rickets OMIM:612089
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616867
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Severe short stature, Knee flexion contracture, Pathologic fracture OMIM:156400
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Short stature, Osteomalacia, Fibrous dysplasia of the bo... ORPHA:249
Distal Renal Tubular Acidosis
Hemolytic anemia, Short stature, Osteomalacia, Rickets, Bone pain, Increased susceptibility to fr... ORPHA:18
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Flexion contracture, Increased susceptibility to fractures, Vert... OMIM:312150
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Severe short stature, Osteomalacia, Joint stiffness, Avascular necrosis of the capita... ORPHA:1901
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Familial Papillary Or Follicular Thyroid Carcinoma
Bone pain, Recurrent fractures ORPHA:319487
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Bone pain, Osteolysis, Synovitis... ORPHA:793
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Short stature, Avascular necrosis of the capital femoral epiphysis, Limitation ... ORPHA:93315
Fanconi Renotubular Syndrome 1
Short stature, Osteomalacia, Rickets OMIM:134600
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Short stature, Recurrent fractures, Osteoporosis, Increased susceptibility to fractur... OMIM:259770
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased susceptibility to fractures, Neutropenia, Lymphopenia, Reduced natural killer cell coun... OMIM:619752
Nestor-Guillermo Progeria Syndrome
Short stature, Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteol... OMIM:614008
Hypophosphatemic Rickets, X-Linked Dominant
Short stature, Osteomalacia, Osteoarthritis, Rickets, Bone pain, Hypophosphatemic rickets OMIM:307800
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Short stature, Recurrent fractures, Camptodactyly of f... ORPHA:3206
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex ORPHA:85184
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Flexion contracture, Increased susceptibility to fractures, Vert... OMIM:253290
Dent Disease
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bo... ORPHA:1652
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Dermatitis Herpetiformis
Bone pain, Recurrent fractures, Microcytic anemia ORPHA:1656
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures ORPHA:2769
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Short stature, Aplastic anemia, Increased suscep... ORPHA:2909
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... ORPHA:289176
Brittle Cornea Syndrome
Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures ORPHA:90354
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Recurrent fractures, Craniosynostosis, Delayed puberty, Episodic hemolytic anemia ORPHA:251004
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short stature, Osteolytic defects of the phalanges of the hand, Joint ... ORPHA:2484
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Septic arth... OMIM:608654
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoulder flexion contracture... OMIM:193700
Osteootohepatoenteric Syndrome
Avascular necrosis of the capital femoral epiphysis, Recurrent fractures, Anemia, Reduced bone mi... OMIM:619377
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Mccune-Albright Syndrome
Pancytopenia, Recurrent fractures, Osteomalacia, Accelerated skeletal maturation, Fibrous dysplas... ORPHA:562
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures ORPHA:97290
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Postnatal growth retardation, Osteopenia, Generalized joint laxity, Increased susceptibility to f... ORPHA:251028
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Short stature, Splenomegaly, Osteolysis, Pathologic fracture, Joint... OMIM:263700
Pachydermoperiostosis
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Bone pain, A... ORPHA:2796
Antley-Bixler Syndrome
Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, Elbow ankylosis ORPHA:83
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Wide anterior fontanel, Abnormal cortical bone morphology, Short stature OMIM:614886
Rin2 Syndrome
Joint hypermobility, Increased susceptibility to fractures ORPHA:217335
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Osteoporosis, Thin b... OMIM:309583
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Bone pain, Pathologic fracture, Avas... OMIM:230800
Hereditary Sensory And Autonomic Neuropathy Type 1
Limb pain, Pathologic fracture, Osteomyelitis ORPHA:36386
Greenberg Dysplasia
Rhizomelia, Recurrent fractures, Multiple prenatal fractures, Costal cartilage calcification, Pat... OMIM:215140
Hyperparathyroidism, Transient Neonatal
Osteopenia, Recurrent fractures, Subperiosteal bone formation, Splenic cyst, Fractured rib OMIM:618188
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Extramedullary hematopoiesis, Rickets ORPHA:79303
Classic Pantothenate Kinase-Associated Neurodegeneration
Increased susceptibility to fractures ORPHA:216866
H Syndrome
Short stature, Recurrent fractures, Microcytic anemia, Delayed skeletal maturation, Osteolysis, H... ORPHA:168569
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Short stature, Recurrent fractures, Pa... ORPHA:355
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Rickets OMIM:607765
Kallmann Syndrome
Reduced bone mineral density, Delayed skeletal maturation, Recurrent fractures, Delayed puberty ORPHA:478
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Rhizomelia, Short stature, Recurrent fractures, Joint hypermobility, Craniosynostosis... OMIM:245600
Familial Dysautonomia
Growth delay, Avascular necrosis, Osteolysis, Recurrent fractures ORPHA:1764
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Rickets OMIM:616026
Multiple Myeloma
Osteopenia, Splenomegaly, Bone pain, Pathologic fracture, Anemia ORPHA:29073
Primary Fanconi Renotubular Syndrome
Osteomalacia, Bone pain, Increased susceptibility to fractures, Growth delay, Hypophosphatemic ri... ORPHA:3337
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Osteoporosis, Increased susceptibility to fractures ORPHA:189427
Cystinosis
Short stature, Rickets, Delayed puberty ORPHA:213
Lysinuric Protein Intolerance
Short stature, Recurrent fractures, Thrombocytopenia, Delayed skeletal maturation, Splenomegaly, ... OMIM:222700
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Short stature, Interphalangeal joint contracture of finger, Ankle fl... OMIM:259600
Cleidocranial Dysplasia
Short stature, Recurrent fractures, Osteoporosis, Decreased skull ossification, Spina bifida occulta ORPHA:1452
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Short stature, Postnatal growth retardation, Rickets, Osteoporosis, Iron defic... OMIM:212750
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Recurrent fractures ORPHA:453510
Wilson Disease
Splenomegaly, Bone pain, Anemia, Arthritis, Pathologic fracture, Thrombocytopenia ORPHA:905
Glycerol Kinase Deficiency
Growth delay, Pathologic fracture, Short stature, Osteoporosis OMIM:307030
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short stature, Recurrent fractures, Tracheomalacia, Tracheobr... ORPHA:140
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Growth delay, Osteopetrosis, Anemia OMIM:612301
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Short stature, Recurrent fractures, Multiple prenatal fractures, Wide ant... OMIM:610682
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short stature, Aplastic anemia, Delayed skeletal... ORPHA:221016
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Bone pain OMIM:259900
Prader-Willi Syndrome
Osteopenia, Short stature, Osteoporosis, Increased susceptibility to fractures ORPHA:739
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Growth delay, Iron deficiency anemia ORPHA:309031
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Short stature, Chronic neutropenia, Osteoporosis, Gout, Increased susceptibility to f... ORPHA:79259
Cole-Carpenter Syndrome
Intrauterine growth retardation, Short stature, Recurrent fractures, Joint hyperflexibility ORPHA:2050
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Disproportionate short stature, Limitation of joint... ORPHA:89936
Osteoglophonic Dysplasia
Osteopenia, Severe short stature, Rhizomelia, Camptodactyly of finger, Craniosynostosis, Increase... OMIM:166250
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Reduced bone mineral density, Gro... ORPHA:667
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Limb joint contracture, Splenomegaly, Achilles tendon contracture, Delayed skeletal maturation, I... ORPHA:404454
Hamamy Syndrome
Osteopenia, Recurrent fractures, Craniosynostosis, Microcytic anemia, Hypochromic anemia OMIM:611174
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Rhizomelia, Short stature, Generalized joint laxity, Decreased calvaria... OMIM:613848
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Craniosynostosis, Accelerated skele... OMIM:130070
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Short stature, Joint hypermobility, Sagittal craniosynos... ORPHA:536471
Osteogenesis Imperfecta
Osteopenia, Rhizomelia, Short stature, Recurrent fractures, Fractures of the long bones, Osteoart... ORPHA:666
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture ORPHA:171430
Dyskeratosis Congenita
Short stature, Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, O... ORPHA:1775
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Sea-blue histiocytosis, Thin bony cortex, Joint stiffness OMIM:230600
Grange Syndrome
Recurrent fractures, Increased susceptibility to fractures OMIM:602531
Stuve-Wiedemann Syndrome 1
Short stature, Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contrac... OMIM:601559
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... OMIM:607330
Cleidocranial Dysplasia 1
Increased bone mineral density, Short stature, Moderately short stature, Increased susceptibility... OMIM:119600
Fanconi-Bickel Syndrome
Growth delay, Osteopenia, Rickets ORPHA:2088
Premature Aging Syndrome, Penttinen Type
Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Osteolytic defects of the distal ... OMIM:601812
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Postnatal growth ... ORPHA:536467
Brittle Cornea Syndrome 2
Recurrent fractures, Joint hypermobility OMIM:614170
Blue Rubber Bleb Nevus
Pathologic fracture, Iron deficiency anemia, Thrombocytopenia OMIM:112200
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616866
Hajdu-Cheney Syndrome
Osteopenia, Short stature, Recurrent fractures, Splenomegaly, Osteoporosis, Osteolysis, Bone pain... ORPHA:955
Craniopharyngioma
Proportionate short stature, Postnatal growth retardation, Increased susceptibility to fractures,... ORPHA:54595
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, ... ORPHA:581
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Short stature, Osteoporosis, Foot acroosteolysis, Osteolytic defects of... OMIM:102500
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Short stature, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Delayed skel... ORPHA:77293
Exudative Vitreoretinopathy 1
Recurrent fractures OMIM:133780
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Severe short stature, Delayed skeletal maturation, Cranial hypero... ORPHA:2658
Mucolipidosis Ii Alpha/Beta
Osteopenia, Craniosynostosis, Splenomegaly, Limitation of joint mobility, Growth delay, Severe po... OMIM:252500
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Delayed skeletal maturation, Growth delay, Cortical ... ORPHA:93325
Classic Homocystinuria
Osteoporosis, Recurrent fractures, Joint stiffness ORPHA:394
Osteogenesis Imperfecta, Type Xx
Multiple prenatal fractures, Intrauterine growth retardation, Disproportionate short-limb short s... OMIM:618644
Primary Hyperoxaluria
Generalized osteosclerosis, Bone pain, Recurrent fractures ORPHA:416
Hallermann-Streiff Syndrome
Tracheomalacia, Recurrent fractures, Proportionate short stature, Reduced bone mineral density ORPHA:2108
Fanconi-Bickel Syndrome
Postnatal growth retardation, Rickets, Osteomalacia OMIM:227810
Lowe Oculocerebrorenal Syndrome
Short stature, Osteomalacia, Camptodactyly of finger, Postnatal growth retardation, Rickets, Path... OMIM:309000
Menkes Disease
Osteomyelitis, Recurrent fractures, Tarsal synostosis, Osteoporosis, Joint hyperflexibility, Intr... ORPHA:565
Hypocalciuric Hypercalcemia, Familial, Type Iii
Bone pain, Osteomalacia OMIM:600740
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Intrauterine growth retarda... ORPHA:2671
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Short stature, Osteomyelitis leading to amputation due to slow healing fractures, Increased susce... OMIM:256810
Weill-Marchesani Syndrome 1
Thin bony cortex, Short stature, Proportionate short stature, Joint stiffness OMIM:277600
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Short stature, Recurrent fractures, Thrombocytopenia, Leukopenia, Elliptocytosis, O... ORPHA:2785
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Severe short stature, Delayed proximal femoral epiphyseal ossification, Flexion con... OMIM:271640
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short stature, Aplastic anemia, Delayed skeletal... ORPHA:221008
Cerebrotendinous Xanthomatosis
Osteopenia, Osteoporosis, Increased susceptibility to fractures ORPHA:909
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Pathologic fracture OMIM:614231
X-Linked Intellectual Disability, Snyder Type
Short stature, Recurrent fractures, Osteoporosis, Camptodactyly ORPHA:3063
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Short stature, Delayed skeletal maturation, Rickets, Redu... OMIM:613658
Faciocardiomelic Syndrome
Osteopenia, Dysharmonic bone age, Thin bony cortex OMIM:612731
Congenital Disorder Of Glycosylation, Type Iib
Recurrent fractures OMIM:606056
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Recurrent fractures, Anemia OMIM:239200
Keppen-Lubinsky Syndrome
Postnatal growth retardation, Flexion contracture, Increased susceptibility to fractures ORPHA:435628
Lysinuric Protein Intolerance
Osteopenia, Thrombocytopenia, Delayed skeletal maturation, Osteoporosis, Hepatosplenomegaly, Leuk... ORPHA:470
Marshall-Smith Syndrome
Decreased hip abduction, Large sternal ossification centers, Short stature, Recurrent fractures, ... OMIM:602535
Spondyloocular Syndrome
Osteopenia, Short stature, Thin bony cortex OMIM:605822
Oculodentodigital Dysplasia
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger ORPHA:2710
Weill-Marchesani Syndrome 2
Short stature, Proportionate short stature, Joint stiffness, Delayed skeletal maturation, Elbow f... OMIM:608328
Frank-Ter Haar Syndrome
Osteopenia, Wide anterior fontanel, Osteoporosis, Growth delay, Camptodactyly, Cortical irregularity OMIM:249420
Infantile Nephropathic Cystinosis
Growth delay, Rickets ORPHA:411629
Oculocerebrorenal Syndrome Of Lowe
Short stature, Recurrent fractures, Osteomalacia, Joint stiffness, Anemia, Joint hyperflexibility... ORPHA:534
Multiple Endocrine Neoplasia Type 1
Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density ORPHA:652
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Severe short stature, Wide anterior fontanel, Intrauterine growth retardation, Path... ORPHA:90349
Wilson Disease
Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ane... OMIM:277900
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Short stature, Thin bony cortex OMIM:619727
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, Rick... ORPHA:198
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Severe short stature, Osteomalacia, Delayed skeletal m... ORPHA:2636
Aspartylglucosaminuria
Joint stiffness, Splenomegaly, Delayed skeletal maturation, Arthritis, Abnormal cortical bone mor... ORPHA:93
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Cystinosis, Nephropathic
Short stature, Splenomegaly, Delayed skeletal maturation, Rickets, Growth delay, Delayed puberty,... OMIM:219800
Neurofibromatosis Type 1
Short stature, Recurrent fractures, Joint stiffness, Chronic myelogenous leukemia, Delayed pubert... ORPHA:636
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Aspartylglucosaminuria
Joint laxity, Short stature, Delayed skeletal maturation, Vacuolated lymphocytes, Neutropenia, Pa... OMIM:208400
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Arthritis, T ly... OMIM:619381
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica... ORPHA:51608
Mowat-Wilson Syndrome
Short stature, Recurrent fractures, Asplenia, Delayed skeletal maturation, Flexion contracture, G... 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 PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Creb3l1tm1a(EUCOMM)Wtsi Creb3l1tm1e(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Creb3l1tm1e(EUCOMM)Wtsi PMC5827107
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Creb3l1tm1e(EUCOMM)Wtsi PMC3996542

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MGI Allele Allele Type Produced
Creb3l1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele Mice, ES Cells
Creb3l1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) ES Cells
Creb3l1tm27681(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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