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Gene: Iapp MGI:96382

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

islet amyloid polypeptide

Synonyms:

amylin

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Iapp 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 Iapp (0 diseases)
Human diseases predicted to be associated with Iapp (625 diseases)

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

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

Disease	Matching phenotypes	Source
Cystic Angiomatosis Of Bone, Diffuse	Cystic angiomatosis of bone	OMIM:123880
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Acroosteolysis	Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes	OMIM:102400
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis	OMIM:608805
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Osteoporosis	Osteoporosis	OMIM:166710
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo...	OMIM:601820
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Patchy reduction of bone mineral density	ORPHA:57196
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615271
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis	OMIM:228600
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Obesity And Hypopigmentation	Overgrowth, Hyperinsulinemia, Obesity	OMIM:620195
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity	ORPHA:71529
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Winchester Syndrome	Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis	OMIM:277950
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia	ORPHA:100024
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones	ORPHA:53697
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:2787
Autosomal Recessive Distal Osteolysis Syndrome	Osteolysis	ORPHA:2776
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615267
Rosaï-Dorfman Disease	Osteolysis, Anemia	ORPHA:158014
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Obesity	ORPHA:329249
Juvenile Hyaline Fibromatosis	Progressive flexion contractures, Osteolysis, Joint stiffness	ORPHA:2028
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Prader-Willi syndrome (Type 1)	Truncal obesity, Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity, Hypogonadism	DECIPHER:53
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin	OMIM:617885
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ...	ORPHA:73
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	ORPHA:50809
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Obesity	OMIM:608320
Isolated Glycerol Kinase Deficiency	Osteoporosis	ORPHA:408
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia...	ORPHA:276580
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia	OMIM:615266
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fas...	ORPHA:276575
Osteosarcoma	Pathologic fracture, Osteolysis	ORPHA:668
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness	ORPHA:66627
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Hutchinson-Gilford Progeria Syndrome	Osteolysis, Generalized osteoporosis	OMIM:176670
Keratoderma Hereditarium Mutilans	Osteolysis	ORPHA:494
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Hypercholanemia, Familial, 2	Osteopenia	OMIM:619256
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Metacarpal osteolysis, Carpal ...	ORPHA:2774
Ollier Disease	Osteolysis, Anemia, Joint stiffness	ORPHA:296
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H...	ORPHA:293964
Ramon Syndrome	Osteolysis	ORPHA:3019
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:614880
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis	ORPHA:71267
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Osteoporosis	OMIM:616033
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Diabetes Insipidus, Neurohypophyseal	Osteopenia	OMIM:125700
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Rothmund-Thomson Syndrome, Type 1	Osteoporosis	OMIM:618625
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:617974
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures	OMIM:126550
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis	ORPHA:2958
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce...	OMIM:612852
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy...	ORPHA:93160
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi...	ORPHA:2114
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Hyperzincemia With Functional Zinc Depletion	Osteoporosis	OMIM:601979
Bruck Syndrome 1	Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture...	OMIM:259450
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Juvenile Paget Disease	Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization	ORPHA:2801
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Increased su...	ORPHA:371428
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility	ORPHA:166277
Prieto Syndrome	Osteoporosis	OMIM:309610
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Indolent Systemic Mastocytosis	Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast...	ORPHA:98848
Congenital Bile Acid Synthesis Defect Type 1	Splenomegaly, Osteoporosis	ORPHA:79301
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Osteoporosis, Thrombocytopenia	OMIM:614727
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Classic Hodgkin Lymphoma	Splenomegaly, Osteolysis	ORPHA:391
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Anemia	ORPHA:324964
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity	ORPHA:791
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul...	OMIM:602080
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Dermatoosteolysis, Kirghizian Type	Osteoarthritis, Tarsal synostosis, Osteolysis	ORPHA:1657
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Analbuminemia	Osteoporosis	OMIM:616000
Maffucci Syndrome	Osteolysis, Recurrent fractures	ORPHA:163634
Infantile Myofibromatosis	Bone cyst, Osteolysis, Limitation of joint mobility	ORPHA:2591
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis	OMIM:618234
Frank-Ter Haar Syndrome	Camptodactyly of finger, Osteolysis, Joint stiffness	ORPHA:137834
Bruck Syndrome	Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness	ORPHA:2771
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co...	ORPHA:280356
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Perrault Syndrome 1	Osteoporosis	OMIM:233400
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Obesity	ORPHA:3085
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Osteoporosis	OMIM:614838
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Calvarial hyperostosis, Pathologic fracture, Osteolysis, Increased susceptibility to fractures	ORPHA:52430
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis	ORPHA:79230
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Felty Syndrome	Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Arthritis, N...	ORPHA:47612
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Osteoporosis	ORPHA:319195
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:618392
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Osteoporosis	ORPHA:369
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Generalized osteoporosis	OMIM:613849
Sialidosis Type 2	Splenomegaly, Flexion contracture, Osteoporosis	ORPHA:87876
Osteogenesis Imperfecta, Type Xxii	Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density	OMIM:619795
Bardet-Biedl Syndrome 10	Hypogonadism, Obesity	OMIM:615987
Metatropic Dysplasia	Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon...	ORPHA:2635
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl...	ORPHA:263455
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Osteoporosis, Camptodactyly of finger	ORPHA:48431
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Osteoporosis, Camptodactyly	OMIM:616006
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ...	ORPHA:94086
Mycetoma	Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab...	ORPHA:2583
Pseudopseudohypoparathyroidism	Osteoporosis	OMIM:612463
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Bone cyst, Knee osteoarthritis, Osteoporosis, Camptodactyly of toe, Oste...	ORPHA:2848
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures	ORPHA:2788
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex	OMIM:176920
Warburg Micro Syndrome 1	Osteoporosis, Joint hypermobility	OMIM:600118
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin...	ORPHA:2298
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H...	OMIM:231095
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Retinal Dystrophy And Microvillus Inclusion Disease	Osteopenia	OMIM:619446
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m...	OMIM:616329
Hall-Riggs Syndrome	Osteoporosis	OMIM:234250
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Recurrent fractures, Generalized osteoporosis, Joint hypermobility	OMIM:617952
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo...	OMIM:614008
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones	ORPHA:93351
Hyperparathyroidism 4	Osteopenia	OMIM:617343
Pachydermoperiostosis	Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A...	ORPHA:2796
Cranioectodermal Dysplasia	Joint hyperflexibility, Osteoporosis, Craniosynostosis	ORPHA:1515
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Osteolysis	ORPHA:659
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera...	ORPHA:85435
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density	OMIM:619489
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Summitt Syndrome	Obesity	OMIM:272350
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ...	OMIM:208230
Ck Syndrome	Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Bardet-Biedl Syndrome 2	Diabetes mellitus, Hypogonadism, Obesity	OMIM:615981
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Type II diabetes mellitus, Obesity	OMIM:615703
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis	ORPHA:99879
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Recurrent fractures, Joint hypermobility	OMIM:619131
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis	ORPHA:77296
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O...	ORPHA:249
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Bardet-Biedl Syndrome 5	Hypogonadism, Obesity	OMIM:615983
Niemann-Pick Disease, Type A	Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Sea-blue histiocytosis	OMIM:257200
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Flexion contracture, Osteolysis	ORPHA:220393
Hernández-Aguirre Negrete Syndrome	Obesity, Delayed puberty	ORPHA:2139
Perlman Syndrome	Hyperinsulinemia, Tall stature	ORPHA:2849
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects of the distal p...	ORPHA:90153
Hypophosphatemic Rickets, X-Linked Recessive	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Osteoporosis, Recurrent fractures, Flexion contracture of toe	ORPHA:3409
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age	OMIM:606176
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti...	ORPHA:793
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis	OMIM:615830
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures	ORPHA:1486
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:600081
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Reduced bone mineral density	ORPHA:172
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Galactokinase Deficiency	Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur...	ORPHA:79237
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Coxoauricular Syndrome	Reduced bone mineral density	ORPHA:1508
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Cerebrooculofacioskeletal Syndrome 1	Flexion contracture, Osteoporosis, Elbow flexion contracture, Knee flexion contracture, Camptodac...	OMIM:214150
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Mandibuloacral Dysplasia With Type B Lipodystrophy	Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)...	ORPHA:90154
Chromomycosis	Ankylosis, Osteolysis	ORPHA:182
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th...	OMIM:259100
Mixed Connective Tissue Disease	Hemolytic anemia, Joint stiffness, Splenomegaly, Osteolysis, Arthritis, Leukopenia	ORPHA:809
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Hyperextensibility at e...	OMIM:610967
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2235
Leptin Deficiency Or Dysfunction	Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
Menkes Disease	Joint laxity, Osteoporosis	OMIM:309400
Rhyns Syndrome	Osteopenia, Osteoporosis	OMIM:602152
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph...	OMIM:241530
Classic Galactosemia	Abnormal erythrocyte enzyme level, Osteoporosis, Reduced bone mineral density	ORPHA:79239
Propionic Acidemia	Pancytopenia, Osteoporosis, Anemia, Neutropenia, Thrombocytopenia	OMIM:606054
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Osteoporosis	OMIM:219080
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility	ORPHA:1901
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism	OMIM:145750
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Recurrent fractures, Anemia	OMIM:618107
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Hyperostosis, Knee flexion contracture	OMIM:606631
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Osteoporosis	OMIM:610475
Spondylo-Ocular Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:85194
Immunodeficiency 12	Osteoporosis, Abnormal lymphocyte count	OMIM:615468
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopenia, Joint hyper...	OMIM:620210
Peroxisome Biogenesis Disorder 3B	Osteoporosis	OMIM:266510
Congenital Generalized Lipodystrophy	Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Proportio...	ORPHA:528
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Reduced bone mineral density, Hip contracture, Ankle flexion contracture, Knee flexion contracture	OMIM:620232
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of...	OMIM:263700
Amish Lethal Microcephaly	Decreased skull ossification, Osteoporosis, Limitation of joint mobility	ORPHA:99742
Bardet-Biedl Syndrome 22	Hypogonadism, Obesity, Large for gestational age	OMIM:617119
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Congenital hypothyroidism	ORPHA:88643
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Osteoporosis, Joint hypermobility	OMIM:619718
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Geroderma Osteodysplastica	Joint hyperflexibility, Osteoporosis, Recurrent fractures, Abnormal bone ossification	ORPHA:2078
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Nasu-Hakola Disease	Bone cyst, Acute leukemia, Limitation of joint mobility, Reduced bone mineral density	ORPHA:2770
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Osteolysis	ORPHA:678
Richards-Rundle Syndrome	Reduced bone mineral density, Joint stiffness	ORPHA:1399
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Joint contracture, Osteoporosis	OMIM:615381
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	ORPHA:2169
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia	OMIM:620366
Kaposiform Lymphangiomatosis	Fractures of the long bones, Thrombocytopenia, Splenomegaly, Osteolysis, Hepatosplenomegaly, Abno...	ORPHA:464329
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Osteoporosis, Recurrent fractures, Reduced bone mineral density	OMIM:616507
Weismann-Netter Syndrome	Abnormal cortical bone morphology, Anemia	ORPHA:3344
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis	ORPHA:199354
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia	ORPHA:363400
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancreatic islet-cell hyperplasia...	OMIM:246200
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty	ORPHA:141333
H Syndrome	Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosplenomegaly, Camptodactyly, Histiocytosis	ORPHA:168569
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis...	OMIM:614450
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Perrault Syndrome 4	Osteoporosis	OMIM:615300
Odontochondrodysplasia 1	Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility	OMIM:184260
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Osteoporosis of vertebrae	OMIM:156510
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Limitation of joint mobility, Osteoporosis, Generalized osteoporosis	OMIM:236200
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Dent Disease 1	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Hemochromatosis, Type 1	Splenomegaly, Osteoporosis	OMIM:235200
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis	OMIM:239000
Werner Syndrome	Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density	OMIM:277700
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased...	OMIM:231070
Mpi-Cdg	Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia	ORPHA:79319
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity	OMIM:603233
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Osteoporosis	OMIM:616200
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Cervical C2/C3 vertebral fusi...	OMIM:618000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Decreased calv...	OMIM:259420
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity	OMIM:604931
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Pseudohypoparathyroidism, Type Ia	Subcutaneous ossification, Osteoporosis	OMIM:103580
Cantu Syndrome	Osteoporosis	OMIM:239850
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:264700
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:277440
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia	ORPHA:95159
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Shoulder flexion contracture, Osteoporosis, Joint contracture of the hand, Wrist...	OMIM:255800
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Osteoporosis	OMIM:610489
Pontocerebellar Hypoplasia, Type 2E	Flexion contracture, Osteoporosis	OMIM:615851
Familial Dysautonomia	Osteolysis, Recurrent fractures	ORPHA:1764
Xp21 Deletion Syndrome	Joint laxity, Osteoporosis, Reduced bone mineral density	ORPHA:261476
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Spondyloepiphyseal Dysplasia Tarda	Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os...	ORPHA:93284
Phakomatosis Pigmentovascularis	Reduced bone mineral density	ORPHA:2875
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Cranial hyperostosis, ...	ORPHA:309282
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Anemia	ORPHA:35687
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
19P13.3 Microduplication Syndrome	Osteoporosis	ORPHA:447980
Desbuquois Dysplasia 1	Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa...	OMIM:251450
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Joi...	ORPHA:355
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Osteoporosis	ORPHA:73272
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys...	ORPHA:79277
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture	OMIM:614438
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Thrombocytopenia	OMIM:613990
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Pancytopenia, Osteoporosis, Thrombocytopenia	OMIM:224230
Pseudohypoparathyroidism, Type Ic	Osteoporosis	OMIM:612462
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm...	ORPHA:848
Alstrom Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i...	OMIM:203800
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Recurrent fractures, Joint hypermobility, Reduced bone mineral density	OMIM:619115
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Abnormal T cell morphology	OMIM:215250
Lowry-Maclean Syndrome	Osteopenia, Osteoporosis, Craniosynostosis	ORPHA:2409
Hajdu-Cheney Syndrome	Osteopenia, Recurrent fractures, Splenomegaly, Osteoporosis, Osteolysis, Joint hyperflexibility, ...	ORPHA:955
Mandibuloacral Dysplasia	Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus	ORPHA:2457
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Osteoporosis, Lambdoidal craniosynostosis	OMIM:615398
Singleton-Merten Syndrome 2	Osteopenia, Osteolytic defects of the phalanges of the hand	OMIM:616298
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, L...	OMIM:127550
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Bardet-Biedl Syndrome 8	Hypogonadism, Obesity	OMIM:615985
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Reduced bone mineral density...	ORPHA:94068
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Osteoporosis	OMIM:617190
Idiopathic Neonatal Atrial Flutter	Maternal diabetes, Large for gestational age	ORPHA:45452
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o...	ORPHA:198
Abdominal Obesity-Metabolic Syndrome 3	Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity	OMIM:615812
Functioning Gonadotropic Adenoma	Osteopenia, Osteoporosis	ORPHA:91348
Congenital Myopathy 22A, Classic	Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contractures	OMIM:620351
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Osteoporosis, Camptodactyly	ORPHA:432
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis	ORPHA:2396
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Anemia	OMIM:612301
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
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ...	ORPHA:3206
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint stiffness, Splenomegaly, Osteoporosis, Arthritis, Stiff interphalangeal joints	ORPHA:465508
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Osteolysis	ORPHA:1546
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening	OMIM:617994
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ...	OMIM:112240
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Flexion contracture, Bone cyst, Osteolysis, Anemia	ORPHA:3042
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Thrombocytosis	OMIM:212750
Melnick-Needles Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Craniofacial hyperostosis, Osteolytic ...	ORPHA:2484
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive...	ORPHA:71212
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	OMIM:608612
Adrenomyodystrophy	Reduced bone mineral density	ORPHA:977
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Osteoporosis, Ivory epiphyses of the phalanges of the hand, Irregular tarsal ossification	OMIM:226980
Incontinentia Pigmenti	Camptodactyly of finger, Eosinophilia, Osteolysis	ORPHA:464
Progressive Pseudorheumatoid Arthropathy Of Childhood	Limitation of joint mobility, Abnormality of hand joint mobility, Camptodactyly, Joint contractur...	ORPHA:1159
Abdominal Obesity-Metabolic Syndrome 4	Type II diabetes mellitus, Obesity	OMIM:618620
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating...	ORPHA:99832
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Macs Syndrome	Joint laxity, Osteoporosis, Joint hypermobility	OMIM:613075
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Splenomegaly, Flexion contracture, Osteoporosis	OMIM:613327
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Pathologic fra...	OMIM:612199
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density	ORPHA:157215
Post-Traumatic Pituitary Deficiency	Osteopenia, Osteoporosis of vertebrae	ORPHA:95619
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hyperinsulinemic hypoglycemia	OMIM:602579
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex	OMIM:309583
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Increased susceptibility to fra...	ORPHA:2909
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility	ORPHA:363705
Brittle Cornea Syndrome	Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures	ORPHA:90354
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Pituitary Adenoma 4, Acth-Secreting	Osteoporosis	OMIM:219090
X Small Rings	Joint laxity, Osteoporosis, Reduced bone mineral density	ORPHA:96201
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Multiple joint contractures, Microcytic anemia, T lymphocytopenia, Generalized osteop...	ORPHA:2959
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Werner Syndrome	Increased bone mineral density, Osteoporosis, Joint stiffness	ORPHA:902
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast...	ORPHA:769
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Joint stiffness, Flexion contracture, Elbow flexion contracture, Progressive clavicul...	OMIM:248370
Coccidioidomycosis	Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Osteolysis, Arthritis, Granuloma	ORPHA:228123
Dent Disease	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ...	OMIM:176270
Mucopolysaccharidosis, Type Ivb	Joint laxity, Osteoporosis, Joint stiffness	OMIM:253010
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Farber Disease	Thrombocytopenia, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Arthritis, Anemia	ORPHA:333
46,Xx Gonadal Dysgenesis	Osteopenia, Osteoporosis of vertebrae, Reduced bone mineral density	ORPHA:243
Aromatase Deficiency	Osteopenia, Delayed epiphyseal ossification, Osteoporosis	ORPHA:91
Mucopolysaccharidosis, Type Iva	Joint laxity, Osteoporosis	OMIM:253000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Recurrent fractures, Joint hypermobility, Craniosynostosis, Osteoporosis, Elbow flexi...	OMIM:245600
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Bowing of limbs due to multiple fractures, Recurrent fractures, Inc...	OMIM:166220
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Elbow flexion contractur...	ORPHA:1900
Lysinuric Protein Intolerance	Recurrent fractures, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Hemophagocytosis, Thrombocyt...	OMIM:222700
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Osteolysis	ORPHA:1052
Glycogen Storage Disease Ib	Splenomegaly, Osteoporosis, Gout, Neutropenia	OMIM:232220
Chime Syndrome	Osteolysis, Acute leukemia	ORPHA:3474
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Splenomegaly, Osteoporosis, Anemia	ORPHA:79240
Bardet-Biedl Syndrome 9	Truncal obesity, Hyperglycemia, Obesity	OMIM:615986
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Sea-blue histiocytosis, Thin bony cortex, Joint stiffness	OMIM:230600
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology	OMIM:614886
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Obesity	OMIM:614651
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis	OMIM:300998
Cantú Syndrome	Osteoporosis	ORPHA:1517
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Osteoporosis, Anemia, Hepatosplenomegaly	OMIM:619487
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Anemia	ORPHA:264580
Cleidocranial Dysplasia	Decreased skull ossification, Osteoporosis, Recurrent fractures	ORPHA:1452
Cerebrotendinous Xanthomatosis	Osteoporosis	OMIM:213700
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Synostosi...	ORPHA:221016
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Glycogen Storage Disease Ia	Osteoporosis, Gout	OMIM:232200
Premature Aging Syndrome, Penttinen Type	Recurrent fractures, Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Joint ...	OMIM:601812
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Osteoporosis	ORPHA:398079
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia	ORPHA:79086
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Neutropen...	ORPHA:221008
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Diabetes mellitus, Hypoglycemia, Glycosuria	OMIM:616026
Stuve-Wiedemann Syndrome 1	Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac...	OMIM:601559
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ...	OMIM:259770
Zygomycosis	Brain abscess, Splenic abscess, Osteolysis, Neutropenia	ORPHA:73263
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Osteoporosis, Foot acroosteolysis, Osteolytic defects of the phalanges ...	OMIM:102500
Prolactinoma	Osteopenia, Osteoporosis	ORPHA:2965
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen...	ORPHA:391487
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hypogonadism, Obesity	OMIM:601794
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Osteoporosis	ORPHA:398069
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus	OMIM:151660
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Osteoporosis, Rad...	ORPHA:536467
Dyskeratosis Congenita	Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, An...	ORPHA:1775
Frank-Ter Haar Syndrome	Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly	OMIM:249420
Lipodystrophy, Congenital Generalized, Type 1	Diabetes mellitus, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellitus ...	OMIM:608594
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis...	OMIM:607330
Classic Homocystinuria	Osteoporosis, Recurrent fractures, Joint stiffness	ORPHA:394
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, Obesity	ORPHA:363741
Leprechaunism	Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu...	ORPHA:508
Glass Syndrome	Generalized osteoporosis, Camptodactyly	OMIM:612313
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis	ORPHA:2232
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity	ORPHA:79445
Glycerol Kinase Deficiency	Pathologic fracture, Osteoporosis	OMIM:307030
Prader-Willi Syndrome	Osteopenia, Osteoporosis, Increased susceptibility to fractures	ORPHA:739
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Osteoporosis	ORPHA:98754
Wilson Disease	Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ane...	OMIM:277900
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Primary Biliary Cholangitis	Osteoporosis	ORPHA:186
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Osteoporosis	ORPHA:98793
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Thin bony c...	OMIM:613848
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Osteoporosis	ORPHA:177904
17Q11 Microdeletion Syndrome	Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones	ORPHA:97685
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Osteoporosis	ORPHA:177901
Multiple Endocrine Neoplasia Type 1	Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density	ORPHA:652
Schwartz-Jampel Syndrome	Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ...	ORPHA:800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Chronic neutropenia, Osteoporosis, Gout, Increased susceptibility to fractures, Abnor...	ORPHA:79259
Lipodystrophy, Congenital Generalized, Type 2	Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II...	OMIM:269700
Tbck-Related Intellectual Disability Syndrome	Osteoporosis	ORPHA:488632
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Osteoporosis, Joint laxity	OMIM:225400
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Histi...	ORPHA:171
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures	ORPHA:2769
Occipital Horn Syndrome	Joint laxity, Capitate-hamate fusion, Osteoporosis, Limited knee extension, Limited elbow extension	OMIM:304150
Menkes Disease	Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Joint hyperflexibility	ORPHA:565
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Anemia, Reduced bone mineral density	ORPHA:935
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss	ORPHA:2126
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis...	OMIM:271640
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
Lysinuric Protein Intolerance	Osteopenia, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Pat...	ORPHA:470
Atypical Werner Syndrome	Failure to thrive, Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistan...	ORPHA:79474
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Hypermobile Ehlers-Danlos Syndrome	Joint hyperflexibility, Osteoarthritis, Limitation of joint mobility, Osteolysis	ORPHA:285
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis, Pathologic fr...	ORPHA:77293
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:289548
X-Linked Intellectual Disability, Snyder Type	Osteoporosis, Recurrent fractures, Camptodactyly	ORPHA:3063
Autosomal Dominant Progressive External Ophthalmoplegia	Osteoporosis	ORPHA:254892
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Joint hypermobility, Sagittal craniosynostosis, Generali...	ORPHA:536471
Low Phospholipid-Associated Cholelithiasis	Overweight, Diabetes mellitus, Obesity	ORPHA:69663
Osteogenesis Imperfecta	Osteopenia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion contracture...	ORPHA:666
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex	OMIM:612731
Smith-Magenis Syndrome	Abnormality of the thyroid gland, Increased body weight	OMIM:182290
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Osteoporosis, Joint hypermobility	ORPHA:536545
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:90796
Rothmund-Thomson Syndrome, Type 2	Osteoporosis	OMIM:268400
Oculodentodigital Dysplasia	Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger	ORPHA:2710
Cystic Fibrosis	Osteopenia, Osteoporosis	ORPHA:586
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Limited elbow movement, Osteoporosis, Joint hypermobility	ORPHA:558
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tracheomalacia, Osteoporosis	OMIM:203700
Cerebrotendinous Xanthomatosis	Osteopenia, Osteoporosis, Increased susceptibility to fractures	ORPHA:909
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Thrombocytopenia	OMIM:305000
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis	ORPHA:99880
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets	ORPHA:2636
Sotos Syndrome	Neonatal hypoglycemia, Increased body weight, Glucose intolerance, Overgrowth, Tall stature	OMIM:117550
Parathyroid Carcinoma	Osteoporosis	ORPHA:143
Cockayne Syndrome B	Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the...	OMIM:133540
Cranioectodermal Dysplasia 1	Joint laxity, Osteoporosis, Sagittal craniosynostosis	OMIM:218330
Congenital Disorder Of Deglycosylation 1	Osteoporosis	OMIM:615273
Dpagt1-Cdg	Flexion contracture, Osteoporosis, Anemia, Camptodactyly	ORPHA:86309
Glycogen Storage Disease Due To Acid Maltase Deficiency	Flexion contracture, Osteoporosis	ORPHA:365
Cushing Disease	Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis	ORPHA:96253
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Tsh-Secreting Pituitary Adenoma	Osteopenia, Osteoporosis	ORPHA:91347
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness	OMIM:277600
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Iron deficiency anemia, An...	ORPHA:79408
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe generalized osteoporosis, Knee flexion contracture	OMIM:210730
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno...	ORPHA:284984
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99413
Turner Syndrome	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:881
Mosaic Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99226
Spondyloocular Syndrome	Osteopenia, Thin bony cortex	OMIM:605822
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Thrombocytopenia	OMIM:619525
Wolf-Hirschhorn Syndrome	Osteoporosis	ORPHA:280
Hardikar Syndrome	Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Thrombocytopenia	OMIM:301068
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Thin bony ...	OMIM:613658
Wilson Disease	Failure to thrive, Increased body weight, Weight loss	ORPHA:905
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Lower-limb joint contracture, Osteoporosis	ORPHA:459070
Dysbetalipoproteinemia	Diabetes mellitus, Hypothyroidism, Obesity	ORPHA:412
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
46,Xy Partial Gonadal Dysgenesis	Osteoporosis	ORPHA:251510
Severe Generalized Junctional Epidermolysis Bullosa	Osteoporosis, Anemia	ORPHA:79404
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Loeys-Dietz Syndrome 2	Joint laxity, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contracture of the hand	OMIM:610168
Pseudoaminopterin Syndrome	Sagittal craniosynostosis, Limited elbow movement, Asplenia, Patchy reduction of bone mineral den...	ORPHA:221120
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end...	ORPHA:99889
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita...	ORPHA:740
Weill-Marchesani Syndrome 2	Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex, Joint stiffness	OMIM:608328
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Anemia, Osteoporosis, Joint laxity	ORPHA:438213
Vascular Ehlers-Danlos Syndrome	Joint hyperflexibility, Osteoarthritis, Osteolysis	ORPHA:286
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex	OMIM:619727
Primrose Syndrome	Hip contracture, Joint hypermobility, Flexion contracture, Osteoporosis, Knee flexion contracture...	OMIM:259050
Singleton-Merten Syndrome 1	Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand	OMIM:182250
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Osteoporosis, Joint hy...	ORPHA:904
Aspartylglucosaminuria	Splenomegaly, Arthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:93
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Flexion contracture, Osteoporosis, Radioulnar synostosis	OMIM:194050
Liver Disease, Severe Congenital	Abnormal circulating thyroid hormone concentration, Failure to thrive, Hyperinsulinemic hypoglycemia	OMIM:619991
Alström Syndrome	Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado...	ORPHA:64
Carney Complex	Tall stature, Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating g...	ORPHA:1359
Hellp Syndrome	Increased body weight	ORPHA:244242
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Osteoporosis, Impaired neutrophil chemotaxis	ORPHA:79318
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia	ORPHA:2968

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 Iapp

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 Iapp.

No publications found that use IMPC mice or data for Iapp.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Iapp^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Iapp^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Iapp^{tm43532(L1L2_st2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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