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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Acroosteolysis
Osteolytic defects of the phalanges of the toes, Osteolytic defects of the phalanges of the hand OMIM:102400
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Osteoporosis
Osteoporosis OMIM:166710
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... OMIM:277950
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
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
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Immunodeficiency 12
Osteoporosis OMIM:615468
Hyaline Fibromatosis Syndrome
Progressive flexion contractures, Osteoporosis, Osteolysis, Osteopenia OMIM:228600
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Camptodactyly, Joint contracture of the hand, Osteopenia OMIM:264010
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Osteoporosis OMIM:256720
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance ORPHA:140941
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Osteopenia And Sparse Hair
Joint laxity, Osteopenia OMIM:259690
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Mu-Heavy Chain Disease
Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis ORPHA:970
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Gnathodiaphyseal Dysplasia
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia ORPHA:53697
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:2787
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints OMIM:608278
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Rosaï-Dorfman Disease
Anemia, Osteolysis ORPHA:158014
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Osteolysis ORPHA:2028
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Failure to thrive, Decreased response to growth hormone stimulatio... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Failure to thrive, Decreased response to growth hormone stimulatio... ORPHA:71526
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Generalized osteoporosis OMIM:601220
Familial Hyperprolactinemia
Osteoporosis, Osteopenia ORPHA:397685
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational age, Exc... ORPHA:324575
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615267
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Dermatoosteolysis, Kirghizian Type
Joint contracture of the hand, Flexion contracture, Osteolysis OMIM:221810
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Gorham-Stout Disease
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat... ORPHA:73
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Joint laxity OMIM:616033
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... ORPHA:276580
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Isolated Glycerol Kinase Deficiency
Osteoporosis ORPHA:408
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Osteoporosis, Reduced bone mineral density ORPHA:2410
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Recurrent fractures, Osteoporosis, Joint laxity OMIM:248010
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Caffey Disease
Calvarial hyperostosis, Cortical irregularity, Periosteal thickening of long tubular bones OMIM:114000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... ORPHA:276575
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Osteoporosis ORPHA:85193
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis OMIM:166230
Osteosarcoma
Osteolysis, Pathologic fracture ORPHA:668
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Tenosynovial Giant Cell Tumor
Joint stiffness, Localized osteoporosis, Limitation of joint mobility, Osteolysis ORPHA:66627
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Increased susceptibility to fractures, Osteoporosis, Osteopenia OMIM:612287
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Limitation of joint mobility, Camptodactyly of finger, Carpal osteolysis, ... ORPHA:2774
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Ollier Disease
Joint stiffness, Anemia, Osteolysis ORPHA:296
Ramon Syndrome
Osteolysis ORPHA:3019
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Eiken Syndrome
Limited elbow flexion, Thin bony cortex, Delayed epiphyseal ossification, Abnormal trabecular bon... ORPHA:79106
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Generalized osteoporosis OMIM:613849
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Insulin resistance ORPHA:79084
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Increased susceptibility to fractures, Osteoporosis, Osteopenia OMIM:612286
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... OMIM:600785
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal obesity OMIM:618160
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Pathologic fracture,... ORPHA:98850
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Osteolysis Syndrome, Recessive
Osteolytic defects of the middle phalanges of the hand, Metacarpal osteolysis, Osteolytic defects... OMIM:259610
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Shashi-Pena Syndrome
Osteoporosis OMIM:617190
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Abnormal bone structure, Osteomalacia, Coarse metaphyseal trabecularization, Recurrent... ORPHA:93160
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... ORPHA:1310
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormal bone ossification, Osteoarthritis, Abnormal ossific... ORPHA:2114
Macrosomia Adiposa Congenita
Obesity, Large for gestational age, Adrenocortical adenoma OMIM:248100
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteoporosis, Osteopenia OMIM:126550
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Increased susceptibility to fractures, Osteoporosis, ... OMIM:259450
Indolent Systemic Mastocytosis
Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increased proportion of CD25+ mast cel... ORPHA:98848
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture ORPHA:166277
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglyce... ORPHA:276556
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis OMIM:309610
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Splenomegaly, Neutroph... OMIM:612852
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Abnormality of the pancreatic islet cells... ORPHA:97279
Hyperzincemia With Functional Zinc Depletion
Osteoporosis OMIM:601979
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Osteoporosis, Joint laxity OMIM:614727
Juvenile Paget Disease
Cranial hyperostosis, Recurrent fractures, Osteoporosis, Coarse metaphyseal trabecularization ORPHA:2801
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Splenomegaly ORPHA:79301
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteolysis involving bones of the lower limbs, Increased susceptibility to fractures, Osteolysis ... ORPHA:371428
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Retinitis Pigmentosa
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Cranio-Osteoarthropathy
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis ORPHA:1525
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Rheumatoid art... ORPHA:100026
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Hyperostosis, Anemia, Arthritis, Osteomyelitis, Craniofacial osteosclerosis, Osteolysis ORPHA:324964
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Arthrogryposis multiplex congenita, Joint contracture of the hand, Knee flexion con... OMIM:214150
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Osteoarthritis, Osteolysis ORPHA:1657
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Osteolysis involving tarsal bones, Osteopenia, Carp... OMIM:166300
Classic Hodgkin Lymphoma
Splenomegaly, Osteolysis ORPHA:391
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Increased susceptibility to fractures, Osteolysis OMIM:602080
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Analbuminemia
Osteoporosis OMIM:616000
Infantile Myofibromatosis
Bone cyst, Limitation of joint mobility, Osteolysis ORPHA:2591
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... ORPHA:280356
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple bony cystic lesions, Abno... ORPHA:83451
Lichtenstein Syndrome
Increased susceptibility to fractures, Osteoporosis, Neutropenia OMIM:246550
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Diabetes Insipidus, Neurohypophyseal
Osteopenia OMIM:125700
Perrault Syndrome 1
Osteoporosis OMIM:233400
Frank-Ter Haar Syndrome
Joint stiffness, Camptodactyly of finger, Osteolysis ORPHA:137834
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Bruck Syndrome
Joint stiffness, Recurrent fractures, Osteoporosis, Arthrogryposis multiplex congenita ORPHA:2771
Estrogen Resistance Syndrome
Overgrowth, Tall stature, Glucose intolerance, Absence of pubertal development, Absence of second... ORPHA:785
Gaucher Disease Type 1
Leukopenia, Anemia, Osteopenia, Pathologic fracture, Splenomegaly, Hypersplenism, Increased bone ... ORPHA:77259
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Increased susceptibility to fractures, Osteolysis, Pathologic fracture ORPHA:52430
Felty Syndrome
Neutropenia, Synovitis, Abnormal lymphocyte morphology, Anemia, Arthritis, Splenomegaly, Limitati... ORPHA:47612
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Menkes Disease
Osteoporosis, Joint laxity OMIM:309400
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Hemochromatosis Type 2
Osteoporosis ORPHA:79230
Chondroectodermal Dysplasia With Night Blindness
Fractures of the long bones, Osteoporosis, Osteopenia ORPHA:319195
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Osteoporosis, Increased bone mineral density OMIM:614856
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Metatropic Dysplasia
Abnormal cortical bone morphology, Coarse metaphyseal trabecularization, Camptodactyly of finger,... ORPHA:2635
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Failure to thriv... ORPHA:181393
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... ORPHA:263455
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Brachydactylous Dwarfism, Mseleni Type
Hip osteoarthritis, Knee osteoarthritis, Osteopenia, Limitation of joint mobility, Osteoarthritis... ORPHA:2619
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia OMIM:615923
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Diabetes mellitus, Insulin resistance OMIM:615980
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly OMIM:616006
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia ORPHA:369
Pseudopseudohypoparathyroidism
Osteoporosis OMIM:612463
Sialidosis Type 2
Osteoporosis, Flexion contracture, Splenomegaly ORPHA:87876
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... ORPHA:2298
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Calvarial hyperostosis, Facial hyperostosis OMIM:176920
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Decreased response to growth hormone stimulation test, Gonadotropin defici... OMIM:609734
Mycetoma
Bone cyst, Osteoporosis, Abnormal bone structure, Osteomyelitis, Painless fractures due to injury... ORPHA:2583
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Osteoporosis, Joint laxity, Osteopenia ORPHA:2788
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Increased bone mine... OMIM:231095
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger ORPHA:48431
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Osteopenia ORPHA:529665
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hypophosphatemic Bone Disease
Osteomalacia, Rickets OMIM:146350
Warburg Micro Syndrome 1
Joint hypermobility, Osteoporosis OMIM:600118
Short Stature, Dauber-Argente Type
Reduced bone mineral density, Osteopenia OMIM:619489
Glycerol Kinase Deficiency
Osteoporosis, Pathologic fracture OMIM:307030
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Joint laxity OMIM:617952
Central Precocious Puberty
Overgrowth, Increased circulating gonadotropin level, Isosexual precocious puberty, Premature the... ORPHA:759
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Symmetric polyarthritis, Reduced bone mineral density, Osteopenia, Limitation of joint... ORPHA:85435
Hyperparathyroidism 4
Osteopenia OMIM:617343
Osteogenesis Imperfecta, Type Xix
Recurrent fractures, Osteopenia OMIM:301014
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Hall-Riggs Mental Retardation Syndrome
Osteoporosis OMIM:234250
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Increased susceptibility to fractures, Osteopenia OMIM:615066
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Osteoporosis, Synostosis of carpal bones, Limitation of joint mobility ORPHA:93351
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Osteoarthr... OMIM:208230
Summitt Syndrome
Obesity OMIM:272350
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Leptin Receptor Deficiency
Pituitary hypothyroidism, Diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Decreased r... OMIM:614963
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Cranioectodermal Dysplasia
Craniosynostosis, Osteoporosis, Joint hyperflexibility ORPHA:1515
Pachydermoperiostosis
Osteoporosis, Anemia, Abnormal cortical bone morphology, Arthritis, Osteomyelitis, Splenomegaly, ... ORPHA:2796
Retinal Dystrophy And Microvillus Inclusion Disease
Osteopenia OMIM:619446
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Osteogenesis Imperfecta, Type Xvii
Osteoporosis OMIM:616507
Amish Lethal Microcephaly
Decreased skull ossification, Osteoporosis, Limitation of joint mobility ORPHA:99742
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:600081
Blue Diaper Syndrome
Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyroid-stimulating ... ORPHA:94086
Metaphyseal Chondrodysplasia, Spahr Type
Reduced bone mineral density ORPHA:2501
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Reduced bone mineral density ORPHA:262
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
Osteogenesis Imperfecta, Type Xxi
Joint hypermobility, Recurrent fractures, Osteoporosis OMIM:619131
Morbid Obesity And Spermatogenic Failure
Obesity, Type II diabetes mellitus, Insulin resistance OMIM:615703
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Pyle Disease
Limited elbow extension, Reduced bone mineral density OMIM:265900
Grant Syndrome
Decreased skull ossification, Abnormal cortical bone morphology, Joint hyperflexibility ORPHA:2097
Fibrous Dysplasia Of Bone
Thin bony cortex, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Patchy reduct... ORPHA:249
Sapho Syndrome
Synovitis, Hyperostosis, Arthritis, Osteomyelitis, Osteolysis, Craniofacial osteosclerosis, Recur... ORPHA:793
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... OMIM:300554
Perlman Syndrome
Hyperinsulinemia, Tall stature ORPHA:2849
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia OMIM:615830
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:1486
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Osteoporosis, Flexion contracture of toe, Camptodactyly of finger ORPHA:3409
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Flexion contracture, Osteolysis ORPHA:220393
Peroxisome Biogenesis Disorder 3B
Osteoporosis OMIM:266510
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoarthritis, Osteoporosis OMIM:618000
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Progressive clavicular acro... OMIM:614008
Mucolipidosis Type Iii
Joint stiffness, Craniofacial hyperostosis, Reduced bone mineral density ORPHA:577
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis ORPHA:77296
Werner Syndrome
Osteoporosis OMIM:277700
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Reduced bone mineral density ORPHA:172
Coxoauricular Syndrome
Reduced bone mineral density ORPHA:1508
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Splenomegaly, Osteopenia, Pathologic fracture, Thrombocytopenia, H... OMIM:263700
Familial Isolated Hyperparathyroidism
Osteopenia, Generalized osteoporosis ORPHA:99879
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Maternal diabetes, Hyperinsulinemia, Hyperglycemia OMIM:604367
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Increased susceptibility to fractures, Osteoporosis, Splenom... ORPHA:231222
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level OMIM:600955
Galactokinase Deficiency
Hypoglycemia, Small for gestational age, Failure to thrive, Hypergonadotropic hypogonadism, Hyper... ORPHA:79237
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Osteopenia OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteoporosis, Osteopenia OMIM:610489
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Recurrent fractures, Osteoporosis, Increased bone mineral density OMIM:239000
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Hypophosphatasia, Adult
Rickets, Increased susceptibility to fractures, Pathologic fracture, Osteomalacia, Recurrent frac... OMIM:146300
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Camurati-Engelmann Disease, Type 2
Hyperostosis, Hip contracture, Knee flexion contracture, Osteopenia OMIM:606631
Mixed Connective Tissue Disease
Leukopenia, Arthritis, Splenomegaly, Joint stiffness, Hemolytic anemia, Osteolysis ORPHA:809
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Osteoporosis, Pancytopenia, Thrombocytopenia, Aplastic anemia OMIM:613989
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density ORPHA:2370
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteoporosis, Arthritis, Osteopenia, Limitation of joint mobility, Osteolytic defects of the phal... OMIM:259100
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Small for gestational age, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:241530
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Osteoporosis, Reduced bone mineral density ORPHA:2235
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Increased susceptibility to fracture... ORPHA:98849
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Recurrent fractures, Anemia, Osteopenia OMIM:618107
Geroderma Osteodysplasticum
Increased susceptibility to fractures, Osteoporosis, Osteopenia, Camptodactyly, Recurrent fractur... OMIM:231070
Spondylo-Ocular Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:85194
Congenital Generalized Lipodystrophy
Precocious puberty in females, Insulin resistance, Failure to thrive, Diabetes mellitus, Proporti... ORPHA:528
Cortisone Reductase Deficiency 1
Obesity, Precocious puberty OMIM:604931
Niemann-Pick Disease, Type A
Osteoporosis, Bone-marrow foam cells, Splenomegaly, Microcytic anemia, Sea-blue histiocytosis OMIM:257200
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Flexion contracture OMIM:615381
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia OMIM:219080
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... OMIM:618849
Papillon-Lefèvre Syndrome
Liver abscess, Recurrent cutaneous abscess formation, Osteolysis ORPHA:678
Infantile Systemic Hyalinosis
Increased susceptibility to fractures, Osteoporosis, Osteopenia, Recurrent fractures, Camptodacty... ORPHA:2176
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteoporosis, Osteopenia, Joint stiffness, Osteomalacia, Joint hyperflexibility ORPHA:1901
Gaucher Disease Type 3
Increased susceptibility to fractures, Anemia, Splenomegaly, Increased bone mineral density, Panc... ORPHA:77261
Classic Galactosemia
Osteoporosis, Abnormal erythrocyte enzyme level, Reduced bone mineral density ORPHA:79239
Geroderma Osteodysplastica
Abnormal bone ossification, Recurrent fractures, Osteoporosis, Joint hyperflexibility ORPHA:2078
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Refractory Celiac Disease
Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, Osteoporosis, Increased proportion ... ORPHA:398063
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Precocious puberty, Pancreatic islet-cell hyperplasia, Sever... OMIM:246200
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty ORPHA:141333
Nasu-Hakola Disease
Acute leukemia, Bone cyst, Limitation of joint mobility, Reduced bone mineral density ORPHA:2770
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Impaired sensitivity... OMIM:614450
Multicentric Osteolysis, Nodulosis, And Arthropathy
Interphalangeal joint contracture of finger, Ankle flexion contracture, Metatarsal osteolysis, Hi... OMIM:259600
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:602579
Richards-Rundle Syndrome
Joint stiffness, Reduced bone mineral density ORPHA:1399
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance ORPHA:363400
Kaposiform Lymphangiomatosis
Fractures of the long bones, Anemia, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly... ORPHA:464329
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
H Syndrome
Hepatosplenomegaly, Microcytic anemia, Camptodactyly, Recurrent fractures, Histiocytosis, Osteolysis ORPHA:168569
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Osteoporosis of vertebrae OMIM:156510
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Osteoporosis, Osteopenia OMIM:612562
Propionic Acidemia
Neutropenia, Osteoporosis, Anemia, Pancytopenia, Thrombocytopenia OMIM:606054
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Weismann-Netter Syndrome
Anemia, Abnormal cortical bone morphology ORPHA:3344
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:264700
Dent Disease 1
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Osteomalacia, Recurrent fractures, Sp... OMIM:300009
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... ORPHA:93284
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Localized osteoporosis ORPHA:199354
Hemochromatosis, Type 1
Osteoporosis, Splenomegaly OMIM:235200
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Osteoporosis, Pancytopenia ORPHA:2169
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:277440
Odontochondrodysplasia 1
Joint hypermobility, Osteoporosis, Delayed ossification of carpal bones OMIM:184260
Mastocytosis
Acute leukemia, Chronic leukemia, Osteoporosis, Mastocytosis, Splenomegaly, Recurrent fractures ORPHA:98292
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Multiple prenatal fractures, Bowing of limbs due to multiple fr... OMIM:259420
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the... ORPHA:464321
Cantu Syndrome
Osteoporosis OMIM:239850
Perrault Syndrome 4
Osteoporosis OMIM:615300
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia, Obesity, Decreased ... ORPHA:254516
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Osteoporosis, Limitation of joint mobility, Generalized osteoporosis OMIM:236200
Bruck Syndrome 2
Increased susceptibility to fractures, Knee flexion contracture, Osteopenia, Flexion contracture,... OMIM:609220
Hepatoerythropoietic Porphyria
Erythroid hyperplasia, Osteoporosis, Splenomegaly, Osteopenia, Hemolytic anemia, Osteolysis ORPHA:95159
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Pseudohypoparathyroidism, Type Ic
Osteoporosis OMIM:612462
Phakomatosis Pigmentovascularis
Reduced bone mineral density ORPHA:2875
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Rickets, Increased susceptibility to fractures, Delayed epiphyseal ossification... ORPHA:289157
Desbuquois Dysplasia 1
Osteoporosis, Advanced ossification of carpal bones, Osteoarthritis, Advanced tarsal ossification... OMIM:251450
Hyperparathyroidism, Transient Neonatal
Osteopenia OMIM:618188
Gaucher Disease
Pancytopenia, Anemia, Arthrogryposis multiplex congenita, Abnormal bone structure, Osteopenia, Os... ORPHA:355
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... ORPHA:453533
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Familial Dysautonomia
Recurrent fractures, Osteolysis ORPHA:1764
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis ORPHA:73272
Wilson Disease
Hemolytic anemia, Osteoporosis, Joint hypermobility, Osteomalacia, Osteoarthritis OMIM:277900
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Xp21 Deletion Syndrome
Joint laxity, Osteoporosis, Reduced bone mineral density ORPHA:261476
Erdheim-Chester Disease
Anemia, Osteolysis, Increased bone mineral density, Osteomyelitis ORPHA:35687
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Osteoporosis, Splenomegaly, Osteopenia, Anisocytosis, Poikiloc... ORPHA:79277
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Microcytic anemia, Throm... ORPHA:848
Alpha-Mannosidosis, Infantile Form
Cortical thickening of long bone diaphyses, Pancytopenia, Joint laxity, Craniosynostosis, Osteope... ORPHA:309282
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Osteoporosis, Pancytopenia, Thrombocytopenia, Aplastic anemia OMIM:613990
Pontocerebellar Hypoplasia, Type 2E
Osteoporosis, Flexion contracture OMIM:615851
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Osteopenia OMIM:615398
Schwartz-Jampel Syndrome, Type 1
Shoulder flexion contracture, Hip contracture, Flexion contracture of toe, Osteoporosis, Joint co... OMIM:255800
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Osteopenia OMIM:616229
Macs Syndrome
Joint hypermobility, Osteoporosis OMIM:613075
Alstrom Syndrome
Diabetes insipidus, Insulin-resistant diabetes mellitus, Multinodular goiter, Truncal obesity, Hy... OMIM:203800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Diabetes mellitus, Glycosuria, Large for gestational age OMIM:616026
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Anemia, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Pseudohypoparathyroidism, Type Ia
Osteoporosis OMIM:103580
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Osteopenia OMIM:212112
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Eunuchoid habitus, Hypogonadism, Abnormality of the thyroid gland, Obe... ORPHA:2234
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Generalized bone demineralization OMIM:215250
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Osteomalacia, Osteoporosis, Rickets ORPHA:309031
Hajdu-Cheney Syndrome
Osteoporosis, Coarse metaphyseal trabecularization, Osteopenia, Decreased skull ossification, Spl... ORPHA:955
Spondyloepiphyseal Dysplasia Congenita
Laryngotracheomalacia, Osteoporosis, Reduced bone mineral density, Limited elbow movement, Abnorm... ORPHA:94068
Lowry-Maclean Syndrome
Craniosynostosis, Osteoporosis, Osteopenia ORPHA:2409
19P13.3 Microduplication Syndrome
Osteoporosis ORPHA:447980
Mandibuloacral Dysplasia
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Insulin resistance ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia OMIM:608612
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormality of hand joint mobility, Joint contracture of the hand, Limitation of joint mobility, ... ORPHA:1159
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening OMIM:617994
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Arthritis, Splenomegaly, Joint stiffness, Stiff interphalangeal joints ORPHA:465508
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Joint hypermobility, Recurrent fractures, Reduced bone mineral density OMIM:619115
Chikungunya
Synovitis, Periostitis, Arthritis, Osteolysis, Joint stiffness, Stiff interphalangeal joints, Ent... ORPHA:324625
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Thickened cortex of long bones, Osteoporosis, Knee flexion contractur... OMIM:601559
Encephalocraniocutaneous Lipomatosis
Bone cyst, Craniofacial hyperostosis, Osteolysis ORPHA:2396
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bone cyst, Hip contracture, Anemia, Flexion contracture, Osteolysis ORPHA:3042
Adrenomyodystrophy
Reduced bone mineral density ORPHA:977
Occipital Horn Syndrome
Rickets, Osteoporosis, Osteopenia, Synostosis of joints, Osteomalacia, Joint hyperflexibility, Os... ORPHA:198
Stüve-Wiedemann Syndrome
Thickened cortex of long bones, Osteoporosis, Abnormal cortical bone morphology, Knee flexion con... ORPHA:3206
Kallmann Syndrome-Heart Disease Syndrome
Osteoporosis, Osteopenia ORPHA:2326
Abcd Syndrome
Large for gestational age OMIM:600501
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Splenomegaly, Flexion contracture, Osteopenia OMIM:613327
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Anemia, Splenomegaly OMIM:612301
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia... ORPHA:71212
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Osteoporosis, Ivory epiphyses of the phalanges of the hand OMIM:226980
Cryptococcosis
Lymphoid leukemia, Osteolysis, Osteomyelitis ORPHA:1546
Functioning Gonadotropic Adenoma
Osteoporosis, Osteopenia ORPHA:91348
Osteoporosis-Pseudoglioma Syndrome
Joint hypermobility, Increased susceptibility to fractures, Osteoporosis, Pathologic fracture OMIM:259770
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteoporosis, Osteopenia, Generalized joint laxity, Camptodactyly ORPHA:432
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia, Osteoporosis OMIM:224230
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Melnick-Needles Syndrome
Abnormal cortical bone morphology, Craniofacial hyperostosis, Osteolytic defects of the phalanges... ORPHA:2484
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Osteoporosis, Splenomegaly, Persistence of hemoglobin F, Hypersple... ORPHA:231226
Prader-Willi Syndrome
Failure to thrive in infancy, Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic ... OMIM:176270
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Reduced bone mineral density ORPHA:137608
African Iron Overload
Osteoporosis ORPHA:139507
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty ORPHA:254531
Mucopolysaccharidosis, Type Iva
Osteoporosis, Joint laxity OMIM:253000
Halothane Hepatitis
Obesity OMIM:234350
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Joint laxity OMIM:253010
Craniofaciofrontodigital Syndrome
Joint laxity, Osteoporosis, Finger joint hypermobility, Osteopenia ORPHA:363705
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus ORPHA:2377
Cole-Carpenter Syndrome 1
Coronal craniosynostosis, Recurrent fractures, Orbital craniosynostosis, Osteopenia OMIM:112240
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Osteomalacia, Hypophosphatemic rickets, Pathologic fracture ORPHA:157215
Incontinentia Pigmenti
Eosinophilia, Camptodactyly of finger, Osteolysis ORPHA:464
Nail-Patella Syndrome
Limited pronation/supination of forearm, Achilles tendon contracture, Osteoporosis, Arthritis, Kn... ORPHA:2614
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Osteoporosis, Splenomegaly, Persistence of he... ORPHA:231214
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Increased susceptibility to fractures, Osteoporosis, Anemia, Osteopenia, Pathologic fracture, Thr... OMIM:612199
Rothmund-Thomson Syndrome
Neutropenia, Leukemia, Increased susceptibility to fractures, Anemia, Osteopenia, Abnormal trabec... ORPHA:2909
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... ORPHA:769
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Rickets, Iron deficiency anemia, Osteoporosis OMIM:212750
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
X Small Rings
Joint laxity, Osteoporosis, Reduced bone mineral density ORPHA:96201
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Recurrent fractures, Osteoporosis, Thin bony cortex, Hyperextensibility of the finger joints OMIM:309583
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Microcytic anemia, Multiple joint contractures, T lymphocytopenia, Generalized osteop... ORPHA:2959
Neu-Laxova Syndrome
Rickets, Osteoporosis, Arthrogryposis multiplex congenita, Osteopenia, Flexion contracture, Osteo... ORPHA:2671
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Glycogen Storage Disease Ib
Osteoporosis, Gout, Neutropenia OMIM:232220
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating free T3, Thyroid hypoplasia,... ORPHA:99832
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Increased susceptibility to fractures, Bowing of limbs due to multiple fract... OMIM:166220
46,Xx Gonadal Dysgenesis
Osteoporosis of vertebrae, Osteopenia, Reduced bone mineral density ORPHA:243
Brittle Cornea Syndrome
Increased susceptibility to fractures, Osteoporosis, Joint hyperflexibility, Camptodactyly ORPHA:90354
Cerebrotendinous Xanthomatosis
Osteoporosis OMIM:213700
Dent Disease
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Osteomalacia, Recurrent fractures, Sp... ORPHA:1652
Coccidioidomycosis
Abnormality of the spleen, Abscess, Arthritis, Osteomyelitis, Granuloma, Eosinophilia, Osteolysis ORPHA:228123
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia OMIM:248370
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis OMIM:219090
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Aromatase Deficiency
Osteoporosis, Delayed epiphyseal ossification, Osteopenia ORPHA:91
Post-Traumatic Pituitary Deficiency
Osteoporosis of vertebrae, Osteopenia ORPHA:95619
Cardiofaciocutaneous Syndrome 3
Reduced bone mineral density OMIM:615279
Lysinuric Protein Intolerance
Leukopenia, Osteoporosis, Anemia, Splenomegaly, Thrombocytopenia, Recurrent fractures, Hemophagoc... OMIM:222700
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Glucose intoler... ORPHA:189439
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteoporosis, Generalized joint laxity, Osteopenia, Joint hyperflexibility, Distal joint laxity, ... ORPHA:1900
Hajdu-Cheney Syndrome
Foot acroosteolysis, Osteoporosis, Pathologic fracture, Osteopenia, Osteolytic defects of the pha... OMIM:102500
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Osteolysis ORPHA:1052
Farber Disease
Osteoporosis, Anemia, Arthritis, Hepatosplenomegaly, Flexion contracture, Thrombocytopenia ORPHA:333
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Osteoporosis, Anemia, Splenomegaly ORPHA:79240
Chime Syndrome
Acute leukemia, Osteolysis ORPHA:3474
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteoporosis, Craniosynostosis, Generalized osteoporosis, Osteopenia, Joint hypermobility, Recurr... OMIM:245600
Hypertrichotic Osteochondrodysplasia, Cantu Type
Osteoporosis ORPHA:1517
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatosplenomegaly, Osteoporosis, Anemia OMIM:619487
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Osteoporosis, Anemia, Abnormal erythrocyte enzyme level, Splenomegaly