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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 Lateral Orientation

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Skull Lateral Orientation

12 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
Joint hypermobility, Rhizomelia, Osteopenia 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
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Mazabraud Syndrome
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones ORPHA:57782
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Gnathodiaphyseal Dysplasia
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia ORPHA:53697
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Osteoporosis OMIM:256720
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Increased susceptibility to fractures, Short stature, Osteopenia OMIM:615066
12q14 microdeletion syndrome
Proportionate short stature, Osteopoikilosis DECIPHER:76
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Osteoporosis, Reduced bone mineral density, Delayed skeletal maturation, Recurrent... ORPHA:2410
Osteogenesis Imperfecta, Type Xix
Recurrent fractures, Severe short stature, Rhizomelia, Osteopenia OMIM:301014
Hypophosphatasia, Adult
Rickets, Increased susceptibility to fractures, Pathologic fracture, Osteomalacia, Recurrent frac... OMIM:146300
Familial Expansile Osteolysis
Bone pain, Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Osteochondrosis, Arthritis, Joint stiffness, Foot pain, Avascular necrosi... ORPHA:564003
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Delayed puberty, Osteopenia OMIM:615270
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Monosomy 5P
Intrauterine growth retardation, Short stature, Abnormality of bone mineral density, Recurrent fr... ORPHA:281
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Recurrent fractures, Osteoporosis, Short stature, Joint laxity OMIM:248010
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Recurrent fractures, Bone pain ORPHA:329475
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture ORPHA:166277
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Osteoporosis, Contractures of the large joints, Short stature OMIM:608278
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Mild short stature, Increased susceptibility to fractures, Osteopenia, Premature osteoarthritis, ... OMIM:130060
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Short stature, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly OMIM:264010
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Postnatal growth retardation, Delayed skeletal maturation, Recurrent fractures, Joint... ORPHA:2324
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Short stature, Splenomegaly ORPHA:2204
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Short stature, Increased susceptibility to fractures,... OMIM:259450
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Short stature, Osteopenia, Joint hypermobility, Recurren... OMIM:610967
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Decreased calvarial ossification, Bowing of limbs due to multiple fractures, Disproportionate sho... OMIM:259410
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Osteoporosis, Bone pain ORPHA:85193
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Bone cyst, Osteopenia, Pathologic fracture OMIM:618193
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Increased susceptibility to fractures, Osteoporosis, Osteopenia OMIM:612287
Bruck Syndrome 2
Short stature, Increased susceptibility to fractures, Knee flexion contracture, Osteopenia, Flexi... OMIM:609220
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Postnatal growth retardation, Pathologic fracture OMIM:179800
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Disproportionate short-limb short stature, Multiple prenatal fr... OMIM:259440
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Recurrent fractures, Anemia, Osteopenia OMIM:618107
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopetrosis, Autosomal Recessive 4
Growth delay, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... OMIM:611490
Hypophosphatemic Bone Disease
Osteomalacia, Short stature, Rickets OMIM:146350
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Increased susceptibility to fractures, Osteoporosis, Osteopenia OMIM:612286
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteoporosis, Severe short stature, Osteopenia OMIM:126550
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Increased susceptibility to fractures, Short stature, Limited elbow extension, Hyperostosis OMIM:604922
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Rickets, Osteomalacia, Bone pain, Hypophosphatemic rickets OMIM:193100
Juvenile Paget Disease
Short stature, Osteoporosis, Coarse metaphyseal trabecularization, Cranial hyperostosis, Recurren... ORPHA:2801
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis ORPHA:970
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Eiken Syndrome
Limited elbow flexion, Thin bony cortex, Short stature, Delayed epiphyseal ossification, Abnormal... ORPHA:79106
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Albers-Schönberg Osteopetrosis
Bone pain, Short stature, Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibula... ORPHA:53
Osteoporosis
Osteoporosis OMIM:166710
Gorham-Stout Disease
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat... ORPHA:73
Osteogenesis Imperfecta, Type Iv
Short stature, Increased susceptibility to fractures, Reduced bone mineral density, Bowing of lim... OMIM:166220
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Bruck Syndrome
Short stature, Osteoporosis, Arthrogryposis multiplex congenita, Joint stiffness, Recurrent fract... ORPHA:2771
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Craniosynostosis, Osteopenia, Joint hypermobility, Recurrent fractures OMIM:147060
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Short stature, Splenomegaly ORPHA:417
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short stature, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:1486
Osteoporosis-Pseudoglioma Syndrome
Short stature, Increased susceptibility to fractures, Osteoporosis, Osteopenia, Joint laxity ORPHA:2788
Lichtenstein Syndrome
Increased susceptibility to fractures, Osteoporosis, Neutropenia OMIM:246550
Short Stature, Dauber-Argente Type
Reduced bone mineral density, Postnatal growth retardation, Short stature, Osteopenia OMIM:619489
Buschke-Ollendorff Syndrome
Short stature, Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structur... ORPHA:1306
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Growth delay, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sp... OMIM:600081
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Intrauterine growth retardation, Disproportionate short-limb sh... ORPHA:2772
Autosomal Recessive Primary Microcephaly
Growth delay, Abnormal cortical bone morphology, Short stature ORPHA:2512
Metatropic Dysplasia
Abnormal cortical bone morphology, Coarse metaphyseal trabecularization, Severe short stature, Ca... ORPHA:2635
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Kn... OMIM:600785
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Growth delay, Short stature, Reduced bone mineral density, Pathologic fracture, Osteomalacia, Bon... ORPHA:157215
Caffey Disease
Calvarial hyperostosis, Cortical irregularity, Periosteal thickening of long tubular bones OMIM:114000
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormal bone ossification, Osteoarthritis, Abnormal ossific... ORPHA:2114
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Osteopetrosis, Autosomal Recessive 2
Thrombocytopenia, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomegaly,... OMIM:259710
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Short stature, Rickets, Delayed epiphyseal ossification, Recurrent fractures, O... OMIM:300554
Cranio-Osteoarthropathy
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis ORPHA:1525
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Joint hypermobility, Recurrent fractures, Short stature, Reduced bone mineral density OMIM:619115
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Short stature, Abnormal bone structure, Osteomalacia, Coarse metaphyseal trabeculariza... ORPHA:93160
Glycerol Kinase Deficiency
Osteoporosis, Growth delay, Short stature, Pathologic fracture OMIM:307030
Osteosarcoma
Osteolysis, Pathologic fracture ORPHA:668
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Neonatal short-limb short stature, Disproportionate short-limb ... OMIM:259420
Osteogenesis Imperfecta, Type Xi
Increased susceptibility to fractures, Joint laxity, Short stature, Osteopenia OMIM:610968
Adamantinoma
Bone pain, Pathologic fracture ORPHA:55881
Cole-Carpenter Syndrome 1
Short stature, Osteopenia, Orbital craniosynostosis, Coronal craniosynostosis, Recurrent fractures OMIM:112240
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Short stature, Rickets, Increased susceptibility to fractures, Delayed epiphyse... ORPHA:289157
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... ORPHA:1310
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Increased susceptibility to fractures, Bone pain, Osteolysis OMIM:602080
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Solitary Bone Cyst
Unicameral bone cyst, Bone pain, Pathologic fracture ORPHA:83468
Dysosteosclerosis
Short stature, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Increased bone mi... ORPHA:1782
Achondrogenesis Type 1A
Recurrent fractures, Severe short stature, Abnormal enchondral ossification ORPHA:93299
Maffucci Syndrome
Growth delay, Short stature, Recurrent fractures, Bone pain, Osteolysis ORPHA:163634
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Mycetoma
Bone cyst, Osteoporosis, Abnormal bone structure, Osteomyelitis, Painless fractures due to injury... ORPHA:2583
Osteogenesis Imperfecta, Type Xxi
Joint hypermobility, Recurrent fractures, Osteoporosis, Disproportionate short-limb short stature OMIM:619131
Infantile Systemic Hyalinosis
Growth delay, Increased susceptibility to fractures, Osteoporosis, Osteopenia, Severe short statu... ORPHA:2176
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Increased susceptibility to fractures, Pathologic fracture, Calvarial hyperostosis... ORPHA:52430
Variant Abeta2M Amyloidosis
Wrist pain, Multiple bony cystic lesions, Knee pain, Pathologic fracture ORPHA:314652
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Growth delay, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Bo... OMIM:241530
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Joint laxity OMIM:617952
Grant Syndrome
Decreased skull ossification, Short stature, Abnormal cortical bone morphology, Joint hyperflexib... ORPHA:2097
Geroderma Osteodysplasticum
Increased susceptibility to fractures, Osteoporosis, Osteopenia, Severe short stature, Camptodact... OMIM:231070
Fanconi Renotubular Syndrome 2
Osteopenia, Short stature, Rickets OMIM:613388
Gaucher Disease Type 1
Growth delay, Leukopenia, Anemia, Osteopenia, Pathologic fracture, Splenomegaly, Hypersplenism, D... ORPHA:77259
Majeed Syndrome
Leukocytosis, Synovitis, Hypochromic microcytic anemia, Increased susceptibility to fractures, Co... ORPHA:77297
Osteogenesis Imperfecta, Type Xv
Joint hypermobility, Recurrent fractures, Bowing of limbs due to multiple fractures, Short stature OMIM:615220
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Short stature, Osteoporosis, Reduced bone mineral density, Delayed skeletal maturation, Recurrent... ORPHA:2235
Fanconi Renotubular Syndrome 3
Growth delay, Short stature, Rickets OMIM:615605
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Anemia, Short stature ORPHA:436
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Bone cyst, Pathologic fracture OMIM:221770
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Reduced bone mineral density ORPHA:137608
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Calvarial hyperostosis, Facial hyperostosis OMIM:176920
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Short stature, Osteoporosis, Camptodactyly of finger, Recurrent fract... ORPHA:3409
Hypercholanemia, Familial 1
Rickets OMIM:607748
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Rickets, Iron deficiency anemia, Osteomalacia, Bone pain ORPHA:89937
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Growth delay, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sp... OMIM:264700
Osteogenesis Imperfecta, Type I
Joint hypermobility, Increased susceptibility to fractures, Recurrent fractures, Osteopenia OMIM:166200
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple ... ORPHA:83451
Dent Disease 1
Thin bony cortex, Short stature, Rickets, Delayed epiphyseal ossification, Osteomalacia, Recurren... OMIM:300009
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Bone pain, Osteolysis OMIM:167250
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Short stature, Osteoporosis, Increased bone mineral density, Recurrent fractures OMIM:239000
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... OMIM:112250
Marshall-Smith Syndrome
Increased susceptibility to fractures, Craniosynostosis, Reduced bone mineral density, Accelerate... ORPHA:561
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Osteomyelitis, Pathologic frac... OMIM:259700
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Growth delay, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sp... OMIM:277440
Spinal muscular atrophy, type I, with congenital bone fractures
Multiple prenatal fractures, Flexion contracture, Osteopenia OMIM:271225
Geroderma Osteodysplastica
Growth delay, Osteoporosis, Severe short stature, Abnormal bone ossification, Recurrent fractures... ORPHA:2078
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis, Bone pain OMIM:616833
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Accelerated skeletal maturation, Joint stiffness, Recurrent fractures, Osteoar... ORPHA:1822
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Increased susceptibility to fractures, Osteoporosis, Splenom... ORPHA:231222
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, H... OMIM:611590
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Thin bony cortex, Delayed skeletal maturation OMIM:619638
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Rickets OMIM:602722
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Pathologic fracture,... ORPHA:98850
Hypophosphatasia, Infantile
Decreased calvarial ossification, Increased susceptibility to fractures, Craniosynostosis, Unossi... OMIM:241500
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intrauterine growth retardation, Short stature, Increased susceptibility to fractures, Osteoporos... OMIM:612199
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteolysis involving bones of the lower limbs, Increased susceptibility to fractures, Osteolysis ... ORPHA:371428
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Short stature, Increased susceptibility to fractures, Limited elbow extension, Elbow flexion cont... ORPHA:93359
Mccune-Albright Syndrome
Polyostotic fibrous dysplasia, Craniofacial hyperostosis, Pathologic fracture OMIM:174800
Osteogenesis Imperfecta, Type Vi
Increased susceptibility to fractures, Joint laxity OMIM:613982
Gaucher Disease Type 3
Growth delay, Increased susceptibility to fractures, Anemia, Splenomegaly, Delayed puberty, Incre... ORPHA:77261
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Painless fractures due to injury, Increased susceptibility to fractures, Osteomyelitis leading to... OMIM:256810
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Disproportionate short-limb short stature, Multiple prenatal fractures, Abse... OMIM:166210
Oncogenic Osteomalacia
Increased susceptibility to fractures, Pathologic fracture, Bone pain, Fibrous dysplasia of the b... ORPHA:352540
Grange Syndrome
Increased susceptibility to fractures ORPHA:79094
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Intrauterine growth retardation, Osteopenia, Pathologic fracture, Postnatal growth retardation, E... OMIM:612394
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Osteoporosis-Pseudoglioma Syndrome
Short stature, Increased susceptibility to fractures, Osteoporosis, Pathologic fracture, Joint hy... OMIM:259770
Osteogenesis Imperfecta, Type Viii
Disproportionate short-limb short stature, Multiple prenatal fractures, Type 1 collagen overmodif... OMIM:610915
Fanconi Renotubular Syndrome 1
Osteomalacia, Short stature, Rickets OMIM:134600
Cholestasis, Progressive Familial Intrahepatic, 1
Splenomegaly, Osteopenia, Short stature, Rickets OMIM:211600
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Increased bone mine... OMIM:231095
Weismann-Netter Syndrome
Anemia, Abnormal cortical bone morphology, Severe short stature ORPHA:3344
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Increased susceptibility to fracture... ORPHA:98849
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... OMIM:224300
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures OMIM:304700
Intermediate Nemaline Myopathy
Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion contracture ORPHA:171433
Al-Gazali Syndrome
Recurrent fractures, Wrist flexion contracture, Proximal radio-ulnar synostosis, Osteopenia OMIM:609465
Hypophosphatemic Rickets And Hyperparathyroidism
Bone pain, Short stature, Hypophosphatemic rickets, Rickets OMIM:612089
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Short stature, Osteopenia, Recurrent fractures, Hypophosphatemic rickets OMIM:163200
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Intrauterine growth retardation, Growth delay, Calvar... ORPHA:93324
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Craniosynostosis, Osteomyelitis, Osteopenia, Recurrent fractures, Joint hyperflexib... ORPHA:2314
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Multiple prenatal fractures, Osteopenia, Decreased skull ossific... OMIM:616897
Pycnodysostosis
Intrauterine growth retardation, Generalized osteosclerosis, Increased susceptibility to fracture... ORPHA:763
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Joint hypermobility, Recurrent fractures, Short stature OMIM:619120
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Knee flexion contracture, Osteopenia, Severe short stature, Pathologic fracture OMIM:156400
Distal Renal Tubular Acidosis
Growth delay, Short stature, Rickets, Increased susceptibility to fractures, Reduced bone mineral... ORPHA:18
Fibrous Dysplasia Of Bone
Thin bony cortex, Short stature, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure... ORPHA:249
Autosomal Recessive Hypophosphatemic Rickets
Growth delay, Short stature, Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphol... ORPHA:289176
Sapho Syndrome
Synovitis, Hyperostosis, Arthritis, Osteomyelitis, Osteolysis, Craniofacial osteosclerosis, Recur... ORPHA:793
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Intrauterine growth retardation, Vertebral fusion, Flexion... OMIM:312150
Porphyria, Congenital Erythropoietic
Short stature, Joint contracture of the hand, Splenomegaly, Osteopenia, Pathologic fracture, Thro... OMIM:263700
Familial Papillary Or Follicular Thyroid Carcinoma
Recurrent fractures, Bone pain ORPHA:319487
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion contracture OMIM:616867
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Intrauterine growth retardation, Vertebral fusion, Flexion... OMIM:253290
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Limb pain, Short stature, Iron deficiency anemia, Increased susceptibility to f... ORPHA:93315
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, Osteopenia, Severe sh... ORPHA:1901
Mastocytosis
Acute leukemia, Chronic leukemia, Osteoporosis, Mastocytosis, Splenomegaly, Recurrent fractures ORPHA:98292
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Hypophosphatemic Rickets, X-Linked Dominant
Short stature, Osteomalacia, Osteoarthritis, Bone pain, Hypophosphatemic rickets OMIM:307800
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Short stature, Thickened cortex of long bones, Osteoporosis, Abn... ORPHA:3206
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Rickets OMIM:616026
Dermatitis Herpetiformis
Recurrent fractures, Microcytic anemia, Bone pain ORPHA:1656
Dent Disease
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Osteomalacia, Recurrent fractures, Sp... ORPHA:1652
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Wide anterior fontanel, Abnormal cortical bone morphology, Short stature OMIM:614886
Arthrogryposis, Distal, Type 2A
Shoulder flexion contracture, Hip contracture, Flexion contracture of toe, Joint contracture of t... OMIM:193700
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Increased susceptibility to fractures, Abnormal cortical bone morphology ORPHA:2769
Rothmund-Thomson Syndrome
Neutropenia, Short stature, Leukemia, Increased susceptibility to fractures, Anemia, Osteopenia, ... ORPHA:2909
Autosomal Recessive Cutis Laxa Type 2A
Intrauterine growth retardation, Increased susceptibility to fractures, Joint hypermobility, Wide... ORPHA:357058
Osteootohepatoenteric Syndrome
Avascular necrosis of the capital femoral epiphysis, Recurrent fractures, Anemia, Reduced bone mi... OMIM:619377
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Episodic hemolytic anemia, Craniosynostosis, Recurrent fractures, Delayed puberty ORPHA:251004
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures ORPHA:97290
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Brittle Cornea Syndrome
Increased susceptibility to fractures, Osteoporosis, Joint hyperflexibility, Camptodactyly ORPHA:90354
Mccune-Albright Syndrome
Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Aneurysmal bone cyst, Monostotic f... ORPHA:562
Melnick-Needles Syndrome
Short stature, Abnormal cortical bone morphology, Craniofacial hyperostosis, Osteolytic defects o... ORPHA:2484
Nestor-Guillermo Progeria Syndrome
Growth delay, Short stature, Osteoporosis, Osteolytic defects of the distal phalanges of the hand... OMIM:614008
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Increased susceptibility to fractures, Generalized joint laxity, Postnatal growth retardation, Os... ORPHA:251028
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short stature, Thickened cortex of long bones, Osteoporosis, Knee fle... OMIM:601559
Pachydermoperiostosis
Osteoporosis, Anemia, Abnormal cortical bone morphology, Arthritis, Osteomyelitis, Splenomegaly, ... ORPHA:2796
Greenberg Dysplasia
Costal cartilage calcification, Absent or minimally ossified vertebral bodies, Abnormal foot bone... OMIM:215140
Cutis Laxa, Autosomal Dominant 3
Postnatal growth retardation, Intrauterine growth retardation, Osteopenia OMIM:616603
Antley-Bixler Syndrome
Elbow ankylosis, Craniosynostosis, Camptodactyly of finger, Joint stiffness, Recurrent fractures ORPHA:83
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Rhizomelia, Osteopenia OMIM:616229
Gaucher Disease
Pancytopenia, Short stature, Anemia, Arthrogryposis multiplex congenita, Abnormal bone structure,... ORPHA:355
Gaucher Disease, Type I
Anemia, Splenomegaly, Pathologic fracture, Hypersplenism, Pancytopenia, Thrombocytopenia, Avascul... OMIM:230800
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Limb pain, Pathologic fracture 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
Rin2 Syndrome
Joint hypermobility, Increased susceptibility to fractures ORPHA:217335
H Syndrome
Short stature, Hepatosplenomegaly, Microcytic anemia, Delayed skeletal maturation, Camptodactyly,... ORPHA:168569
Primary Pigmented Nodular Adrenocortical Disease
Increased susceptibility to fractures, Osteoporosis, Growth delay ORPHA:189439
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Short stature, Rhizomelia, Multiple prenatal fractures, Osteope... OMIM:610682
Kallmann Syndrome
Recurrent fractures, Delayed puberty, Delayed skeletal maturation, Reduced bone mineral density ORPHA:478
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Extramedullary hematopoiesis, Rickets ORPHA:79303
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Increased susceptibility to fractures, Osteoporosis ORPHA:189427
Primary Fanconi Renotubular Syndrome
Growth delay, Increased susceptibility to fractures, Osteomalacia, Bone pain, Hypophosphatemic ri... ORPHA:3337
Familial Dysautonomia
Growth delay, Recurrent fractures, Avascular necrosis, Osteolysis ORPHA:1764
Classic Pantothenate Kinase-Associated Neurodegeneration
Increased susceptibility to fractures ORPHA:216866
Campomelic Dysplasia
Tracheobronchomalacia, Short stature, Recurrent fractures, Tracheomalacia, Poorly ossified cervic... ORPHA:140
Wilson Disease
Anemia, Arthritis, Splenomegaly, Pathologic fracture, Thrombocytopenia, Bone pain ORPHA:905
Multiple Myeloma
Anemia, Splenomegaly, Osteopenia, Pathologic fracture, Bone pain ORPHA:29073
Lysinuric Protein Intolerance
Leukopenia, Short stature, Osteoporosis, Anemia, Splenomegaly, Delayed skeletal maturation, Throm... OMIM:222700
Cole-Carpenter Syndrome 2
Short stature, Osteopenia, Postnatal growth retardation, Coronal craniosynostosis, Lambdoidal cra... OMIM:616294
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Bone pain, Pathologic fracture OMIM:259900
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Short stature, Rhizomelia, Osteoporosis, Craniosynostosis, Generalized osteoporosis, Osteopenia, ... OMIM:245600
Cystinosis
Delayed puberty, Short stature, Rickets ORPHA:213
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Rickets OMIM:607765
Rothmund-Thomson Syndrome Type 2
Neutropenia, Growth delay, Short stature, Leukemia, Anemia, Finger symphalangism, Abnormal trabec... ORPHA:221016
X-Linked Hypophosphatemia
Growth delay, Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arth... ORPHA:89936
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Rickets, Iron deficiency anemia, Osteoporosis, Osteomalacia ORPHA:309031
Congenital Insensitivity To Pain With Severe Intellectual Disability
Recurrent fractures, Osteomyelitis ORPHA:453510
Cleidocranial Dysplasia
Short stature, Osteoporosis, Decreased skull ossification, Recurrent fractures, Spina bifida occulta ORPHA:1452
Osteopetrosis, Autosomal Recessive 7
Growth delay, Osteopetrosis, Anemia, Splenomegaly, Abnormal trabecular bone morphology OMIM:612301
Prader-Willi Syndrome
Increased susceptibility to fractures, Osteoporosis, Short stature, Osteopenia ORPHA:739
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Growth delay, Short stature, Abnormal myeloid leukocyte morphology, Increase... ORPHA:79259
Hajdu-Cheney Syndrome
Short stature, Foot acroosteolysis, Osteoporosis, Pathologic fracture, Osteopenia, Osteolytic def... OMIM:102500
Cole-Carpenter Syndrome
Recurrent fractures, Short stature, Intrauterine growth retardation, Joint hyperflexibility ORPHA:2050
Exudative Vitreoretinopathy 1
Recurrent fractures OMIM:133780
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Osteopetrosis, Craniosynostosis, Anemia, Splenomegaly, Reduced bone mineral density... ORPHA:667
Wilson Disease
Hemolytic anemia, Osteoporosis, Joint hypermobility, Osteomalacia, Osteoarthritis OMIM:277900
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Short stature, Rickets, Iron deficiency anemia, Osteoporosis, ... OMIM:212750
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Radioulnar synostosis, Short stature, Craniosynostosis, Osteopenia, Flexion contracture, Accelera... OMIM:130070
Osteogenesis Imperfecta
Bone pain, Intrauterine growth retardation, Growth delay, Short stature, Fractures of the long bo... ORPHA:666
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion contracture ORPHA:171430
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Sclerosis of finger phalanx, Limb joint contracture, Increased susceptibility to fractures, Achil... ORPHA:404454
Brittle Cornea Syndrome 2
Joint hypermobility, Recurrent fractures OMIM:614170
Lathosterolosis
Anisopoikilocytosis, Increased mean platelet volume, Schistocytosis, Growth delay, Acanthocytosis... OMIM:607330
Mucolipidosis Ii Alpha/Beta
Severe postnatal growth retardation, Splenomegaly, Osteopenia, Pathologic fracture OMIM:252500
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Pathologic fracture OMIM:614231
Grange Syndrome
Recurrent fractures, Increased susceptibility to fractures OMIM:602531
Spondylodysplastic Ehlers-Danlos Syndrome
Radioulnar synostosis, Short stature, Increased susceptibility to fractures, Generalized joint la... ORPHA:536471
Fanconi-Bickel Syndrome
Growth delay, Osteopenia, Rickets ORPHA:2088
Cleidocranial Dysplasia
Increased susceptibility to fractures, Delayed pubic bone ossification, Increased bone mineral de... OMIM:119600
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia, Pathologic fracture OMIM:112200
Hajdu-Cheney Syndrome
Short stature, Osteoporosis, Coarse metaphyseal trabecularization, Osteopenia, Decreased skull os... ORPHA:955
Fanconi-Bickel Syndrome
Osteomalacia OMIM:227810
Craniopharyngioma
Growth delay, Increased susceptibility to fractures, Proportionate short stature, Postnatal growt... ORPHA:54595
Chronic Visceral Acid Sphingomyelinase Deficiency
Short stature, Osteoporosis, Splenomegaly, Osteopenia, Pathologic fracture, Hypersplenism, Autoim... ORPHA:77293
Mucopolysaccharidosis Type 3
Increased susceptibility to fractures, Avascular necrosis of the capital femoral epiphysis, Reduc... ORPHA:581
Dyskeratosis Congenita
Intrauterine growth retardation, Short stature, Osteoporosis, Anemia, Splenomegaly, Coarse metaph... ORPHA:1775
Congenital Disorder Of Glycosylation, Type Iib
Recurrent fractures OMIM:606056
Hypophosphatemic Rickets
Fibrous dysplasia of the bones, Rickets, Hyperostosis, Patchy variation in bone mineral density, ... ORPHA:437
Osteoglophonic Dysplasia
Increased susceptibility to fractures, Craniosynostosis, Rhizomelia OMIM:166250
Menkes Disease
Tarsal synostosis, Intrauterine growth retardation, Osteoporosis, Osteomyelitis, Recurrent fractu... ORPHA:565
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Severe short stature, Increase... ORPHA:2658
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Craniosynostosis, Osteoporosis, Osteopenia, Joint hypermobility, Postnatal growth retardation, Mu... ORPHA:536467
Classic Homocystinuria
Joint stiffness, Recurrent fractures, Osteoporosis ORPHA:394
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Intrauterine growth retardation, Growth delay, Short ... ORPHA:93325
Hallermann-Streiff Syndrome
Recurrent fractures, Tracheomalacia, Proportionate short stature, Reduced bone mineral density ORPHA:2108
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures, Bone pain ORPHA:416
Osteogenesis Imperfecta, Type Xx
Disproportionate short-limb short stature, Intrauterine growth retardation, Multiple prenatal fra... OMIM:618644
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Bone pain OMIM:600740
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Short stature, Osteopetrosis, Anemia, Pancytopenia, Thrombocytopenia, Recurrent fract... ORPHA:2785
Lowe Oculocerebrorenal Syndrome
Short stature, Rickets, Joint contracture of the hand, Pathologic fracture, Joint hypermobility, ... OMIM:309000
Neu-Laxova Syndrome
Intrauterine growth retardation, Rickets, Osteoporosis, Arthrogryposis multiplex congenita, Osteo... ORPHA:2671
Kenny-Caffey Syndrome, Type 2
Short stature, Thickened cortex of long bones, Anemia, Severe short stature, Increased bone miner... OMIM:127000
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion contracture OMIM:616866
Weill-Marchesani Syndrome 1
Joint stiffness, Proportionate short stature, Thin bony cortex, Short stature OMIM:277600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Osteoporosis, Pathologic fracture, Severe short... OMIM:271640
Rothmund-Thomson Syndrome Type 1
Neutropenia, Growth delay, Short stature, Leukemia, Anemia, Finger symphalangism, Abnormal trabec... ORPHA:221008
X-Linked Intellectual Disability, Snyder Type
Recurrent fractures, Osteoporosis, Short stature, Camptodactyly ORPHA:3063
Faciocardiomelic Syndrome
Dysharmonic bone age, Thin bony cortex, Osteopenia OMIM:612731
Cerebrotendinous Xanthomatosis
Increased susceptibility to fractures, Osteoporosis, Osteopenia ORPHA:909
Hyperparathyroidism, Neonatal Severe
Recurrent fractures, Anemia, Splenomegaly OMIM:239200
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Intrauterine growth retardation, Short stature, Rickets, Growth delay, Anemia, ... OMIM:613658
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Recurrent fractures ORPHA:457059
Lysinuric Protein Intolerance
Leukopenia, Osteoporosis, Anemia, Osteopenia, Pathologic fracture, Hepatosplenomegaly, Delayed sk... ORPHA:470
Oculodentodigital Dysplasia
Cranial hyperostosis, Hyperostosis, Abnormal cortical bone morphology, Camptodactyly of finger ORPHA:2710
Weill-Marchesani Syndrome 2
Thin bony cortex, Flexion contracture of toe, Short stature, Proportionate short stature, Delayed... OMIM:608328
Keppen-Lubinsky Syndrome
Increased susceptibility to fractures, Postnatal growth retardation, Flexion contracture ORPHA:435628
Infantile Nephropathic Cystinosis
Growth delay, Rickets ORPHA:411629
Frank-Ter Haar Syndrome
Growth delay, Osteoporosis, Osteopenia, Wide anterior fontanel, Cortical irregularity, Camptodactyly OMIM:249420
Oculocerebrorenal Syndrome Of Lowe
Short stature, Anemia, Arthritis, Recurrent fractures, Joint stiffness, Thrombocytopenia, Osteoma... ORPHA:534
Multiple Endocrine Neoplasia Type 1
Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density ORPHA:652
Cystinosis, Nephropathic
Growth delay, Short stature, Rickets, Splenomegaly, Delayed skeletal maturation, Delayed puberty,... OMIM:219800
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Intrauterine growth retardation, Pathologic fracture ORPHA:90349
Occipital Horn Syndrome
Rickets, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, Osteopenia, Synostosi... ORPHA:198
Aspartylglucosaminuria
Abnormal cortical bone morphology, Arthritis, Splenomegaly, Delayed skeletal maturation, Joint st... ORPHA:93
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Intrauterine growth retardation, Rickets, Osteoporosis, Osteopenia, Severe short stature, Delayed... ORPHA:2636
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Neurofibromatosis Type 1
Short stature, Leukemia, Chronic myelogenous leukemia, Joint stiffness, Recurrent fractures, Dela... ORPHA:636
Aspartylglucosaminuria
Neutropenia, Short stature, Vacuolated lymphocytes, Pathologic fracture, Delayed skeletal maturat... OMIM:208400
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Anemia, Arthritis, Splenomegaly, Osteom... OMIM:619381
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Osteomalacia, Hypophosphatemic rickets, Fused cervica... ORPHA:51608
Mowat-Wilson Syndrome
Growth delay, Asplenia, Short stature, Delayed skeletal maturation, Flexion contracture, Recurren... 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