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Gene: Pls3 MGI:104807

Gene Summary

Name:

plastin 3 (T-isoform)

Synonyms:

T-fimbrin

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased mean corpuscular hemoglobin	Pls3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.29×10^-05
increased circulating phosphate level	Pls3^{tm1a(EUCOMM)Wtsi}	HEM	Early adult	3.29×10^-07
increased circulating triglyceride level	Pls3^{tm1a(EUCOMM)Wtsi}	HEM	Early adult	1.98×10^-06
increased grip strength	Pls3^{tm1a(EUCOMM)Wtsi}	HEM	Early adult	1.19×10^-05
increased circulating alkaline phosphatase level	Pls3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.13×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

14 Images

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DSS Histology

Images

8 Images

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Legacy Phenotype Associated Images

Pls3^{tm1a(EUCOMM)Wtsi}
WT, Male, WTSI

Pls3^{tm1a(EUCOMM)Wtsi}
HEMI, Male, WTSI

View all 80 images

Human diseases caused by Pls3 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.

Human diseases associated with Pls3 (0 diseases)
Human diseases predicted to be associated with Pls3 (747 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pls3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Avascular Necrosis Of Femoral Head, Primary, 1	Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis	OMIM:608805
Acroosteolysis	Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes	OMIM:102400
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Patchy reduction of bone mineral density	ORPHA:57196
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Osteoporosis	Osteoporosis	OMIM:166710
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis...	ORPHA:970
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615271
Winchester Syndrome	Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis	OMIM:277950
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis	OMIM:228600
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger	ORPHA:2787
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Autosomal Recessive Distal Osteolysis Syndrome	Osteolysis, Short distal phalanx of finger	ORPHA:2776
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Juvenile Hyaline Fibromatosis	Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness	ORPHA:2028
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol...	ORPHA:668
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Mu-Heavy Chain Disease	Osteoporosis, Osteolysis	ORPHA:100024
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ...	OMIM:617974
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl...	ORPHA:2501
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp...	ORPHA:73
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Rosaï-Dorfman Disease	Osteolysis	ORPHA:158014
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615267
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	ORPHA:50809
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Forsythe-Wakeling Syndrome	Osteoporosis	OMIM:613606
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma...	ORPHA:93351
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Isolated Glycerol Kinase Deficiency	Osteoporosis	ORPHA:408
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim...	ORPHA:2204
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Slender long bone, Metacarpal ...	ORPHA:2774
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Tenosynovial Giant Cell Tumor	Abnormal hip joint morphology, Joint stiffness, Limitation of joint mobility, Osteolysis, Abnorma...	ORPHA:66627
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Ollier Disease	Abnormal metaphysis morphology, Osteolysis, Micromelia, Joint stiffness	ORPHA:296
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal hip b...	ORPHA:93160
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept...	OMIM:602080
Keratoderma Hereditarium Mutilans	Autoamputation of digits, Osteolysis	ORPHA:494
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing	OMIM:126550
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, En...	OMIM:208230
Cranio-Osteoarthropathy	Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger...	ORPHA:1525
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e...	OMIM:265900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia	OMIM:615266
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Osteoporosis, Elbo...	OMIM:259450
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Coxa valga, Osteoporosis, Bilateral talipes equinovarus	ORPHA:2958
Prieto Syndrome	Coxa valga, Osteoporosis, Talipes equinovarus, Radial deviation of finger, Clinodactyly	OMIM:309610
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis, Genu valgum	OMIM:614880
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Osteoarthritis, Osteolysis, Abnormal diaphysis morphology, Abnormal metaphysis...	ORPHA:1657
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Cone-shaped epiphysis, Osteoporosis	ORPHA:71267
Ramon Syndrome	Osteolysis	ORPHA:3019
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hutchinson-Gilford Progeria Syndrome	Osteolysis, Generalized osteoporosis	OMIM:176670
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Juvenile Paget Disease	Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Coarse metaphy...	ORPHA:2801
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Osteoporosis, Diaphyseal dysplasia	OMIM:614727
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Fractures of the long bones, Osteoporosi...	ORPHA:319195
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Hypercholanemia, Familial, 2	Osteopenia	OMIM:619256
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus...	ORPHA:2771
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Recurrent fractures	OMIM:619884
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Hyp...	ORPHA:324964
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Osteoporosis	OMIM:616033
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis...	ORPHA:371428
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil...	ORPHA:1515
Rothmund-Thomson Syndrome, Type 1	Osteoporosis	OMIM:618625
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Bowing of the arm, ...	OMIM:619131
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s...	ORPHA:2635
Diabetes Insipidus, Neurohypophyseal	Osteopenia	OMIM:125700
Frank-Ter Haar Syndrome	Camptodactyly of finger, Joint stiffness, Osteolysis, Abnormal metacarpal morphology, Clinodactyl...	ORPHA:137834
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Osteoporosis, Flat acetabular ...	OMIM:184260
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Pseudopseudohypoparathyroidism	Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612463
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,...	ORPHA:85435
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, B...	OMIM:613849
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Infantile Myofibromatosis	Abnormal metaphysis morphology, Bone cyst, Osteolysis, Limitation of joint mobility	ORPHA:2591
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Osteoporosis, Short foot, Abnormal ...	ORPHA:3409
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine...	OMIM:619489
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Ge...	OMIM:617952
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Brachydactyly, Delayed ossification of carpal bones, Short femoral neck, Reduced bone mineral den...	OMIM:618392
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Maffucci Syndrome	Osteolysis, Recurrent fractures	ORPHA:163634
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, Calvarial hyper...	ORPHA:52430
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met...	ORPHA:2370
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca...	OMIM:619638
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa vara, Short femoral n...	ORPHA:2848
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ...	OMIM:251450
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly, Osteoporosis	OMIM:614838
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Flared metaphysis, Short middle ph...	OMIM:156510
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Hyperzincemia With Functional Zinc Depletion	Osteoporosis	OMIM:601979
Classic Hodgkin Lymphoma	Osteolysis	ORPHA:391
Mycetoma	Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone morphology, Painless fractures due ...	ORPHA:2583
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Congenital Bile Acid Synthesis Defect Type 1	Osteoporosis	ORPHA:79301
Perrault Syndrome 1	Osteoporosis, Talipes equinovarus	OMIM:233400
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Slender long bones with narrow diaphyses, Dense metaphyseal bands	ORPHA:50811
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:600081
Thrombocytopenia 6	Myelofibrosis, Osteoporosis	OMIM:616937
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300554
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis	OMIM:618234
Hall-Riggs Syndrome	Metaphyseal dysplasia, Osteoporosis, Brachydactyly	OMIM:234250
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum	OMIM:619073
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Thin bony cortex, Bowing of the long bones, Abnormal pelvis bo...	ORPHA:249
Analbuminemia	Osteoporosis	OMIM:616000
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Grant Syndrome	Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:2097
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist...	OMIM:614856
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae	OMIM:612852
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Osteoporosis, Camptodactyly	OMIM:616006
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis	ORPHA:79230
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Pachydermoperiostosis	Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to...	ORPHA:2796
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog...	ORPHA:1486
Congenital Disorder Of Glycosylation, Type Iiy	Hip subluxation, Reduced bone mineral density	OMIM:620200
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Osteoporosis	ORPHA:369
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Enlarged interphalangeal joints, Narrow small joints of the hand, Broad femor...	ORPHA:1159
Warburg Micro Syndrome 1	Overlapping toe, Osteoporosis, Joint hypermobility	OMIM:600118
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Ck Syndrome	Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility	OMIM:300831
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Osteoporosis, Camptodactyly of finger	ORPHA:48431
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density, Abnormal hip bone morph...	ORPHA:577
Rhyns Syndrome	Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Smal...	ORPHA:140976
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Sialidosis Type 2	Flexion contracture, Osteoporosis	ORPHA:87876
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow...	OMIM:301014
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy...	ORPHA:157965
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:241530
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Osteoporosis, Hip dislocation, Reduced bone min...	OMIM:616507
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Aggressive Systemic Mastocytosis	Pathologic fracture, Osteoporosis, Osteolysis	ORPHA:98850
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Proteus Syndrome	Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex	OMIM:176920
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Retinal Dystrophy And Microvillus Inclusion Disease	Osteopenia	OMIM:619446
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo...	OMIM:614008
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ...	OMIM:610967
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Osteolysis	ORPHA:659
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ...	ORPHA:1901
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Bowing of the long bones, Congenital hip dislocation, Shoulder flexion contractu...	OMIM:255800
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteoporosis, Upper limb unde...	ORPHA:94068
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Gamma-Heavy Chain Disease	Osteolysis, Rheumatoid arthritis	ORPHA:100026
Diffuse Cutaneous Systemic Sclerosis	Narrow foramen obturatorium, Arthritis, Flexion contracture, Osteolysis	ORPHA:220393
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Osteolysis, Osteolytic defects of the distal phalanges of the hand...	ORPHA:90154
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects of the distal p...	ORPHA:90153
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture	ORPHA:77259
Menkes Disease	Joint laxity, Metaphyseal widening, Osteoporosis, Metaphyseal spurs	OMIM:309400
Cantu Syndrome	Broad hallux, Short hallux, Coxa valga, Metaphyseal widening, Osteoporosis, Broad first metatarsa...	OMIM:239850
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Flexion contracture, Osteoporosis, Elbow flexion contracture, Kne...	OMIM:214150
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler...	ORPHA:793
Indolent Systemic Mastocytosis	Osteoporosis	ORPHA:98848
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr...	OMIM:239000
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Dent Disease 1	Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300009
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutaneous ossification, Short fin...	OMIM:103580
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Felty Syndrome	Arthritis, Limitation of joint mobility, Osteolysis, Synovitis	ORPHA:47612
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased...	OMIM:231070
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel...	ORPHA:2176
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi...	ORPHA:2484
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:264700
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis	ORPHA:77296
Geroderma Osteodysplastica	Recurrent fractures, Osteoporosis, Hip dislocation, Joint hyperflexibility, Abnormal epiphysis mo...	ORPHA:2078
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:277440
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis	ORPHA:99879
Hyperparathyroidism 4	Osteopenia	OMIM:617343
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis	OMIM:615830
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects of the phala...	OMIM:259100
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Congenital Disorder Of Glycosylation, Type Ir	Osteopenia	OMIM:614507
Chromomycosis	Ankylosis, Osteolysis	ORPHA:182
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2235
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Osteoarthritis, Generalized joint laxity, Osteoporosis, Squared iliac ...	OMIM:618000
Progressive Familial Intrahepatic Cholestasis	Reduced bone mineral density	ORPHA:172
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Recurrent fractures, Camptodactyly of finger, Micromelia, M...	ORPHA:3206
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys...	ORPHA:289157
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Clinodactyly, Osteoporosis, Down-sloping shoulders	OMIM:616200
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Cleidocranial Dysplasia	Hypoplastic scapulae, Recurrent fractures, Down-sloping shoulders, Tapered finger, Abnormal thumb...	ORPHA:1452
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Nasu-Hakola Disease	Bone cyst, Abnormal epiphysis morphology, Limitation of joint mobility, Reduced bone mineral density	ORPHA:2770
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars...	OMIM:190351
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Camurati-Engelmann Disease, Type 2	Osteopenia, Hyperostosis, Knee flexion contracture, Hip contracture	OMIM:606631
19P13.3 Microduplication Syndrome	Long fingers, Osteoporosis, Hip dislocation, Hip dysplasia, Clinodactyly, Hip subluxation	ORPHA:447980
Peroxisome Biogenesis Disorder 3B	Osteoporosis	OMIM:266510
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Osteoporosis	OMIM:219080
Spondylo-Ocular Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:85194
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Fractu...	ORPHA:464329
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv...	ORPHA:88630
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Osteoporosis	OMIM:610475
Stuve-Wiedemann Syndrome 1	Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Os...	OMIM:601559
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Amish Lethal Microcephaly	Decreased skull ossification, Osteoporosis, Limitation of joint mobility	ORPHA:99742
Mucopolysaccharidosis, Type Ivb	Joint laxity, Joint stiffness, Epiphyseal deformities of tubular bones, Coxa valga, Metaphyseal w...	OMIM:253010
Classic Galactosemia	Osteoporosis, Reduced bone mineral density	ORPHA:79239
Papillon-Lefèvre Syndrome	Arachnodactyly, Osteolysis	ORPHA:678
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Immunodeficiency 12	Clubbing, Osteoporosis	OMIM:615468
X Small Rings	Joint laxity, Toe syndactyly, Tapered finger, Osteoporosis, 2-3 toe syndactyly, Upper limb underg...	ORPHA:96201
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Shoulder dislocation, Dislocated radial head, Rhizomelia, Spatulate thumbs, Osteoporo...	OMIM:245600
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Osteoporosis, Joint hypermobility, Bicoronal synostosis	OMIM:619718
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Joint contracture, Osteoporosis	OMIM:615381
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Arachnodactyly, Limitation of joint mobility, Osteoporosis, Generalized osteoporosis	OMIM:236200
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density	ORPHA:1399
Mixed Connective Tissue Disease	Arthritis, Osteolysis, Joint stiffness	ORPHA:809
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density	OMIM:620232
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis	ORPHA:199354
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Perrault Syndrome 4	Osteoporosis	OMIM:615300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal widening, Larg...	OMIM:271640
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K...	ORPHA:2614
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Osteoporosis	ORPHA:785
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Clinodactyly of the 5th finger, Clinodactyly, Osteoporosis	ORPHA:73272
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Recurrent fractures	OMIM:618107
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma...	ORPHA:35687
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Porphyria, Congenital Erythropoietic	Osteopenia, Pathologic fracture, Joint contracture of the hand, Osteolysis	OMIM:263700
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Craniosynostosis, Joint stiffness, Cranial hyperostosis, Osteolysis, Ge...	ORPHA:309282
Familial Dysautonomia	Osteolysis, Recurrent fractures	ORPHA:1764
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Hajdu-Cheney Syndrome	Osteopenia, Brachydactyly, Bowing of the long bones, Recurrent fractures, Short toe, Osteoporosis...	ORPHA:955
Xp21 Deletion Syndrome	Joint laxity, Osteoporosis, Finger clinodactyly, Reduced bone mineral density	ORPHA:261476
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Abnormal metaphy...	ORPHA:1517
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl...	ORPHA:90354
Mucopolysaccharidosis, Type Iva	Joint laxity, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal widening, Osteopor...	OMIM:253000
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Niemann-Pick Disease, Type A	Osteoporosis	OMIM:257200
Hemochromatosis, Type 1	Osteoporosis	OMIM:235200
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat...	OMIM:620099
H Syndrome	Hallux valgus, Osteolysis, Recurrent fractures, Camptodactyly	ORPHA:168569
Diamond-Blackfan Anemia 7	Osteopenia, Short thumb, Osteoporosis, Triphalangeal thumb	OMIM:612562
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra...	OMIM:271225
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Osteoporosis, Increased susceptibili...	OMIM:612199
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Phakomatosis Pigmentovascularis	Reduced bone mineral density	ORPHA:2875
Werner Syndrome	Osteoporosis, Reduced bone mineral density	OMIM:277700
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ...	ORPHA:3474
Methylcobalamin Deficiency Type Cble	Syndactyly, Clinodactyly, Osteoporosis	ORPHA:2169
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Pontocerebellar Hypoplasia, Type 2E	Flexion contracture, Osteoporosis	OMIM:615851
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Osteoporosis	OMIM:610489
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture, Hip dislocation	OMIM:614438
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Reduced bone mineral density	ORPHA:466926
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Recurrent fractures, Joint hypermobility, Reduced bone mineral density	OMIM:619115
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Propionic Acidemia	Osteoporosis	OMIM:606054
Beta-Thalassemia Intermedia	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Reduced bone mineral density	ORPHA:231222
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes...	OMIM:309583
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Short metacarpal, Osteoporosis	OMIM:617190
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali...	OMIM:613848
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Osteoporosis, Lambdoidal craniosynostosis	OMIM:615398
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen...	ORPHA:89936
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Bilateral talipe...	OMIM:609465
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Recurrent fractures, Osteoporosis, Tibial bowing, Short foot, Slender long bone, O...	OMIM:601812
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Frank-Ter Haar Syndrome	Osteopenia, Bowing of the long bones, Metatarsus adductus, Osteoporosis, Flared metaphysis, Hip d...	OMIM:249420
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Down-sloping shoulders, Joint stiffness, Coxa valga, Flexion contracture, Elbow flexi...	OMIM:248370
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia	OMIM:604367
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Hallux valgus, Bowing of the long bones, Multiple joint contractures, Arachnodactyly,...	ORPHA:536467
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Lowry-Maclean Syndrome	Osteopenia, Osteoporosis, Craniosynostosis	ORPHA:2409
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Incontinentia Pigmenti	Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Osteolysis, Absent hand, De...	ORPHA:464
Hepatoerythropoietic Porphyria	Osteopenia, Osteoporosis, Osteolysis	ORPHA:95159
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Singleton-Merten Syndrome 2	Osteopenia, Osteolytic defects of the phalanges of the hand	OMIM:616298
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Angulated humerus, Bowing of the long bones, Rhizomelia, Recurrent fractures, Decreas...	OMIM:616229
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ...	OMIM:259770
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Reduced bone mineral density	ORPHA:137608
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ...	ORPHA:355
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Mandibuloacral Dysplasia With Type B Lipodystrophy	Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phal...	OMIM:608612
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Functioning Gonadotropic Adenoma	Osteopenia, Osteoporosis	ORPHA:91348
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ...	OMIM:112240
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis	ORPHA:2396
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Joint stiffness, Osteoporosis, Arthritis, Stiff in...	ORPHA:465508
Congenital Myopathy 22A, Classic	Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contractures	OMIM:620351
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl...	OMIM:166200
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Narrow iliac wing	ORPHA:3042
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Osteoporosis, Camptodactyly	ORPHA:432
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Dietary Iron Overload Disease	Osteoporosis	ORPHA:139507
Chikungunya	Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal...	ORPHA:324625
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Osteoporosis	ORPHA:2326
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Adrenomyodystrophy	Reduced bone mineral density	ORPHA:977
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Tapered finger, 2-3 toe cuta...	OMIM:300998
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Del...	ORPHA:1652
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta...	ORPHA:93352
Macs Syndrome	Joint laxity, Osteoporosis, Joint hypermobility, Brachydactyly	OMIM:613075
Aromatase Deficiency	Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Genu valgum	ORPHA:91
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Cryptococcosis	Osteomyelitis, Osteolysis	ORPHA:1546
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Coxa vara, Increased suscepti...	OMIM:610968
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas...	ORPHA:2769
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m...	ORPHA:561
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Elbow flexion contractur...	ORPHA:1900
Werner Syndrome	Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis	ORPHA:902
46,Xx Gonadal Dysgenesis	Osteopenia, Osteoporosis of vertebrae, Arachnodactyly, Reduced bone mineral density	ORPHA:243
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse...	ORPHA:536471
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Osteoporosis, Foot acroosteolysis, Osteolytic defects of the phalanges ...	OMIM:102500
Dyskeratosis Congenita, Autosomal Dominant 3	Avascular necrosis of the capital femoral epiphysis, Osteoporosis	OMIM:613990
Post-Traumatic Pituitary Deficiency	Osteopenia, Osteoporosis of vertebrae	ORPHA:95619
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis, Rickets, Large hands, Ar...	ORPHA:2671
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Osteoporosis, Large hands, Finger joint hypermobility	ORPHA:363705
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Reduced bone mineral density, Joint hyperfl...	ORPHA:1488
Dyskeratosis Congenita, Autosomal Recessive 1	Osteoporosis	OMIM:224230
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Brachydactyly, Abnormal distal phalanx morphology of f...	ORPHA:2636
Chylomicron Retention Disease	Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Prader-Willi Syndrome	Osteopenia, Syndactyly, Acromicria, Osteoporosis, Small hand, Genu valgum, Short foot, Hip dyspla...	OMIM:176270
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Pituitary Adenoma 4, Acth-Secreting	Osteoporosis	OMIM:219090
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe generalized osteoporosis, Hypoplastic pubic bone, Cone-shaped epiphyses o...	OMIM:210730
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Multiple joint contractures, Short distal phalanx of finger, Generalized osteoporosis...	ORPHA:2959
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Flexion contracture, Osteoporosis	OMIM:613327
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Dyskeratosis Congenita, Autosomal Dominant 2	Osteoporosis	OMIM:613989
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia	ORPHA:398079
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Reduced bone mineral density	ORPHA:2983
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Metaphyseal chondrodysplasia, Reduced bone mineral density	ORPHA:83629
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol...	ORPHA:2658
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Hypoplastic ischia, Bowing of the legs, Decreased calvarial ossification, Short clavi...	ORPHA:313855
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Coccidioidomycosis	Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormal metacarpal morpholo...	ORPHA:228123
Classic Homocystinuria	Arachnodactyly, Recurrent fractures, Joint stiffness, Osteoporosis, Genu valgum	ORPHA:394
Schwartz-Jampel Syndrome	Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Bowing of the lon...	ORPHA:800
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Mosaic Variegated Aneuploidy Syndrome	Clinodactyly of the 5th finger, Osteolysis	ORPHA:1052
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro...	OMIM:218330
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Farber Disease	Short toe, Flexion contracture, Osteoporosis, Arthritis, Short finger	ORPHA:333
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets	OMIM:212750
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Glass Syndrome	Arachnodactyly, Anterior tibial bowing, Talipes equinovarus, Camptodactyly, Generalized osteoporosis	OMIM:612313
Spinocerebellar Ataxia-Dysmorphism Syndrome	Joint hyperflexibility, Slender long bone, Reduced bone mineral density	ORPHA:1185
Osteogenesis Imperfecta	Osteopenia, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal ...	ORPHA:666
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology	OMIM:614886
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Osteoporo...	OMIM:304150
Cystinosis	Hypokalemia, Hypophosphatemia	ORPHA:213
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing...	OMIM:620076
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Congenital Erythropoietic Porphyria	Osteopenia, Osteoporosis, Osteolysis	ORPHA:79277
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Cerebrotendinous Xanthomatosis	Osteoporosis	OMIM:213700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Osteoporosis, Increased susceptibility to fractures	ORPHA:189427
Gm1-Gangliosidosis, Type Ii	Limb undergrowth, Coxa valga, Thin bony cortex, Joint stiffness	OMIM:230600
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplasia/hypoplasia involving b...	ORPHA:221016
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98863
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98853
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Dominant Beta-Thalassemia	Bowing of the long bones, Osteoporosis, Genu valgum	ORPHA:231226
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Osteoporosis, Small hand, Short foot, Hip dysplasia	ORPHA:398069
Glycogen Storage Disease Ia	Osteoporosis, Gout	OMIM:232200
Prader-Willi Syndrome	Osteopenia, Small hand, Osteoporosis, Increased susceptibility to fractures, Short foot, Hip dysp...	ORPHA:739
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Short lower limbs, Hypoplastic iliac wing, Avascular necrosis of the capital fe...	ORPHA:93315
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex	OMIM:612731
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Aplasia/Hypoplasia of th...	ORPHA:2909
Tbck-Related Intellectual Disability Syndrome	Broad toe, Osteoporosis, 2-3 toe syndactyly, Broad finger, Limb undergrowth, Clinodactyly	ORPHA:488632
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia	ORPHA:98754
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Osteoporosis	ORPHA:79240
Systemic Mastocytosis With Associated Hematologic Neoplasm	Osteoporosis, Increased susceptibility to fractures	ORPHA:98849
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Patella...	ORPHA:221008
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo...	ORPHA:565
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia	ORPHA:98793
Glycerol Kinase Deficiency	Pathologic fracture, Osteoporosis	OMIM:307030
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis	OMIM:612301
Mucopolysaccharidosis Type 4	Bowing of the long bones, Coxa valga, Reduced bone mineral density, Genu valgum, Joint hyperflexi...	ORPHA:582
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Osteop...	OMIM:225400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia	ORPHA:177904
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis, Tr...	ORPHA:2232
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia	ORPHA:177901
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Prolactinoma	Osteopenia, Osteoporosis	ORPHA:2965
Aicardi-Goutieres Syndrome 9	Osteoporosis	OMIM:619487
Lathosterolosis	Toe syndactyly, Postaxial hand polydactyly, Osteoporosis, Postaxial foot polydactyly, Talipes equ...	OMIM:607330
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co...	OMIM:615980
Glycogen Storage Disease Ib	Osteoporosis, Gout	OMIM:232220
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Osteoporosis	ORPHA:264580
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Beta-Thalassemia Major	Bowing of the long bones, Osteoporosis, Genu valgum	ORPHA:231214
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large hands, Thic...	ORPHA:97685
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Dyskeratosis Congenita, Autosomal Dominant 1	Osteoporosis	OMIM:127550
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density	ORPHA:935
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars...	OMIM:277600
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Short thumb, Osteoporosis, Small hand, Short foot, Talipes equinovaru...	OMIM:268400
Spondyloocular Syndrome	Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co...	OMIM:605822
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Recurrent fractures, Osteoporosis, Slender toe, Camptodactyly	ORPHA:3063
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Zygomycosis	Osteolysis	ORPHA:73263
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia	OMIM:203800
Primary Biliary Cholangitis	Osteoporosis	ORPHA:186
Multiple Endocrine Neoplasia Type 1	Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density	ORPHA:652
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Coxa valga, Osteoporosis, Hip dislocation, Osteo...	OMIM:182250
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Arachnodactyly, Osteoporosis, Hip dislocation, Shoulder d...	ORPHA:536545
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Limited elbow movement, Sagittal craniosynostosis, Postaxial poly...	ORPHA:221120
Dyskeratosis Congenita	Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization	ORPHA:1775
Lysinuric Protein Intolerance	Osteoporosis, Recurrent fractures	OMIM:222700
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull...	OMIM:619727
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Hypermobile Ehlers-Danlos Syndrome	Osteoarthritis, Limitation of joint mobility, Hip dislocation, Osteolysis, Joint hyperflexibility	ORPHA:285
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal tibia morphology, Osteoporosis, Abnormal femur morphology, Abnormal finger m...	ORPHA:909
Weill-Marchesani Syndrome 2	Short metacarpal, Joint stiffness, Broad metatarsal, Elbow flexion contracture, Short metatarsal,...	OMIM:608328
Familial Chylomicronemia Syndrome	Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration	ORPHA:444490
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Wilson Disease	Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility	OMIM:277900
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98907
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:168558
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Osteoporosis, Gout, Increased susceptibility to fractures	ORPHA:79259
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Limitation of joint m...	ORPHA:79474
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:289548
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Os...	ORPHA:558
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Short thumb, Preaxial hand polydactyly, Sp...	ORPHA:280
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Autosomal Dominant Progressive External Ophthalmoplegia	Osteoporosis	ORPHA:254892
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia	ORPHA:275761
Congenital Disorder Of Deglycosylation 1	Short foot, Osteoporosis, Small hand	OMIM:615273
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:90796
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Cockayne Syndrome B	Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the hand, Square ...	OMIM:133540
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:280365
Cystic Fibrosis	Osteopenia, Osteoporosis	ORPHA:586
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polyda...	OMIM:610168
Dpagt1-Cdg	Arachnodactyly, Flexion contracture, Osteoporosis, Camptodactyly, Clinodactyly	ORPHA:86309
Mccune-Albright Syndrome	Primary hypercortisolism, Increased circulating cortisol level, Hypophosphatemia	ORPHA:562
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tracheomalacia, Osteoporosis	OMIM:203700
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis	ORPHA:99880
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Toe syndactyly, Tapered finger, Osteoporosis, Lower-limb joint contracture, Short finger, Clinoda...	ORPHA:459070
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi...	ORPHA:284984
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Parathyroid Carcinoma	Osteoporosis	ORPHA:143
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Hypermobility of toe joints, Short toe, Enlargement of the distal femoral epiphysis, ...	ORPHA:99413
Turner Syndrome	Osteopenia, Hypermobility of toe joints, Short toe, Enlargement of the distal femoral epiphysis, ...	ORPHA:881
Mosaic Monosomy X	Osteopenia, Hypermobility of toe joints, Short toe, Enlargement of the distal femoral epiphysis, ...	ORPHA:99228
Monosomy X	Osteopenia, Hypermobility of toe joints, Short toe, Enlargement of the distal femoral epiphysis, ...	ORPHA:99226
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Primary Sclerosing Cholangitis	Osteopenia, Osteoporosis	ORPHA:171
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Glycogen Storage Disease Due To Acid Maltase Deficiency	Flexion contracture, Osteoporosis	ORPHA:365
Chédiak-Higashi Syndrome	Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia	ORPHA:167
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Pathologic fracture, Osteoporosis	ORPHA:77293
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Tsh-Secreting Pituitary Adenoma	Osteopenia, Osteoporosis	ORPHA:91347
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Generalized osteoporosis	ORPHA:391487
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Mitten deformity	ORPHA:79408
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Raine Syndrome	Hypophosphatemia	OMIM:259775
Pearson Syndrome	Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Steatorrhea, Hyperalaninemia	ORPHA:699
Primrose Syndrome	Hip contracture, Joint hypermobility, Metatarsus adductus, Flexion contracture, Osteoporosis, Red...	OMIM:259050
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Cystinosis, Nephropathic	Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho...	OMIM:219800
Severe Generalized Junctional Epidermolysis Bullosa	Osteoporosis, Abnormal fingertip morphology, Mitten deformity	ORPHA:79404
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Cholestasis-Lymphedema Syndrome	Hyperlipidemia	ORPHA:1414
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia	ORPHA:534
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
46,Xy Partial Gonadal Dysgenesis	Osteoporosis	ORPHA:251510
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Coxa valga, Osteoarthr...	ORPHA:740
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex	OMIM:613658
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia	OMIM:619418
Dyskeratosis Congenita, X-Linked	Osteoporosis	OMIM:305000
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration	OMIM:619573
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility, Talipes equinovarus	ORPHA:286
Cushing Disease	Osteoporosis	ORPHA:96253
Congenital Disorder Of Glycosylation, Type Iiw	Osteoporosis	OMIM:619525
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Hardikar Syndrome	Osteoporosis	OMIM:301068
Aspartylglucosaminuria	Arthritis, Abnormal cortical bone morphology, Abnormal morphology of ulna, Joint stiffness	ORPHA:93
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Hip dysplasia, Osteoporosis, Joint laxity	ORPHA:438213
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Hallux valgus, Down-sloping shoulders, ...	ORPHA:904
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98908
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Hallux valgus, Down-sloping shoulders, Flexion contracture, Osteoporosi...	OMIM:194050
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:118450
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:269700
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia	OMIM:606721
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	OMIM:264090
Cushing Syndrome Due To Ectopic Acth Secretion	Osteoporosis	ORPHA:99889
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	ORPHA:3455
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Long fingers, Osteoporosis	ORPHA:79318
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Elevated circulating creatine kinase concentration	ORPHA:565612
Alström Syndrome	Hyperlipidemia, Hypertriglyceridemia	ORPHA:64
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665

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 Pls3

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 Pls3.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Osteoclast-specific Plastin 3 knockout in mice fail to develop osteoporosis despite dramatic increased osteoclast resorption activity.	JBMR plus (January 2024)	Pls3^{tm1c(EUCOMM)Wtsi} Pls3^{tm1a(EUCOMM)Wtsi} Pls3^{tm1d(EUCOMM)Wtsi}	PMC10971598
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Pls3^{tm1a(EUCOMM)Wtsi}	PMC7263671
Mice lacking plastin-3 display a specific defect of cortical bone acquisition.	Bone (October 2019)	Pls3^{tm1a(EUCOMM)Wtsi}	31678489
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Pls3^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Pls3^{tm1a(EUCOMM)Wtsi}	PMC6459510
Plastin 3 influences bone homeostasis through regulation of osteoclast activity.	Human molecular genetics (December 2018)	Pls3^{tm1c(EUCOMM)Wtsi} Pls3^{tm1a(EUCOMM)Wtsi} Pls3^{tm1d(EUCOMM)Wtsi}	30204862
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Pls3^{tm1a(EUCOMM)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Pls3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pls3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Pls3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Pls3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pls3 MGI:104807

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

DSS Histology

Legacy Phenotype Associated Images

Human diseases caused by Pls3 mutations

Histopathology

IMPC related publications

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