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Gene: Cthrc1 MGI:1915838

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Gene Summary

Name:
collagen triple helix repeat containing 1
Synonyms:
1110014B07Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal liver morphology Cthrc1em1(IMPC)Mbp HOM Early adult 0.00
small kidney Cthrc1em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Cthrc1em1(IMPC)Mbp HOM Early adult 0.00
persistence of hyaloid vascular system Cthrc1em1(IMPC)Mbp HOM Early adult 3.17×10-05
small liver Cthrc1em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Cthrc1em1(IMPC)Mbp HOM Early adult 0.00
small testis Cthrc1em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Human diseases caused by Cthrc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cthrc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Barrett Esophagus
OMIM:614266

The table below shows human diseases predicted to be associated to Cthrc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Osteoporosis
Osteoporosis OMIM:166710
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Immunodeficiency 12
Osteoporosis OMIM:615468
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly OMIM:264010
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Limitation of joint mobility, Osteoporosis ORPHA:3294
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Osteoporosis OMIM:256720
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance ORPHA:140941
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Cortisone Reductase Deficiency 2
Insulin resistance OMIM:614662
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis OMIM:277950
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:2787
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Generalized osteoporosis, Osteoporosis OMIM:601220
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Contractures of the large joints, Osteoporosis OMIM:608278
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... ORPHA:79084
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Gnathodiaphyseal Dysplasia
Recurrent fractures, Osteopenia, Thickened cortex of long bones, Mandibular osteomyelitis ORPHA:53697
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Familial Hyperprolactinemia
Osteopenia, Osteoporosis ORPHA:397685
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Hyaline Fibromatosis Syndrome
Flexion contracture, Osteopenia, Osteoporosis, Osteolysis, Progressive flexion contractures OMIM:228600
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Coronary Artery Disease, Autosomal Dominant 2
Gout, Osteoporosis OMIM:610947
Forsythe-Wakeling Syndrome
Osteoporosis OMIM:613606
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Flynn-Aird Syndrome
Increased bone density with cystic changes, Joint stiffness, Osteoporosis, Increased bone mineral... OMIM:136300
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Skeletal muscle hyper... OMIM:613877
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:616829
Isolated Glycerol Kinase Deficiency
Osteoporosis ORPHA:408
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis OMIM:166260
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Osteoporosis ORPHA:85193
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Osteoporosis, Reduced bone mineral density ORPHA:2410
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Type II diabetes mellitus, Insulin resistance, Diabetes mellitus ORPHA:181393
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Recurrent fractures, Joint laxity, Osteoporosis OMIM:248010
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Myopathy ORPHA:79087
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... OMIM:617156
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatomegaly, Hepatic failure OMIM:617872
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Insulin resistance, Hepatic st... OMIM:612526
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Macroglossia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Mater... ORPHA:99886
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Lower limb muscle weakness, Diabetes mellitus, Insulin resistance, Hepatic st... OMIM:615980
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Maternal diabetes, Insulin-resistant diab... OMIM:604367
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Osteoporosis OMIM:613849
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Mu-Heavy Chain Disease
Osteolysis, Osteoporosis ORPHA:100024
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentrati... OMIM:603471
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteopenia, Osteoporosis OMIM:126550
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Hyperzincemia With Functional Zinc Depletion
Osteoporosis OMIM:601979
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia OMIM:617885
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Abnormal bone ossification, Epiphyseal stippling ORPHA:1952
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:610717
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Osteoporosis OMIM:616033
Juvenile Paget Disease
Recurrent fractures, Coarse metaphyseal trabecularization, Cranial hyperostosis, Osteoporosis ORPHA:2801
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Shashi-Pena Syndrome
Osteoporosis OMIM:617190
Thrombocytopenia 6
Osteoporosis, Myelofibrosis OMIM:616937
Bruck Syndrome 1
Hip contracture, Osteoporosis, Joint laxity, Elbow flexion contracture, Increased susceptibility ... OMIM:259450
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Flexion contracture, Hyperglycemia OMIM:618856
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Gracile Syndrome
Cirrhosis, Elevated hepatic iron concentration, Hepatic steatosis, Cholestasis ORPHA:53693
Prieto Syndrome
Osteoporosis OMIM:309610
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Reduced bone mineral density OMIM:617974
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Hepatomegaly, Insulin-resistant diabetes mellitus ORPHA:79085
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis ORPHA:79301
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Osteoporosis OMIM:614727
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Analbuminemia
Osteoporosis OMIM:616000
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Cholestasis, Elevated hepatic transaminase, Portal fibrosis, Hepatic st... OMIM:614300
Bruck Syndrome
Recurrent fractures, Joint stiffness, Osteoporosis, Arthrogryposis multiplex congenita ORPHA:2771
Hemochromatosis, Type 4
Cirrhosis, Hepatic steatosis, Hepatomegaly OMIM:606069
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Cirrhosis, Maternal diabet... ORPHA:79083
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619048
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... OMIM:600785
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Osteoporosis, Fractures of the long bones ORPHA:319195
Perrault Syndrome 1
Osteoporosis OMIM:233400
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Insulin resistance, Hepatic steatosis, Myopathy ORPHA:363400
Hemochromatosis Type 2
Osteoporosis ORPHA:79230
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hepatomegaly, Hepatic ... OMIM:618805
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Diabetes mellitus, Insulin resi... OMIM:615381
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Insulin-resis... ORPHA:435660
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute hepatic failure OMIM:615438
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Osteoporosis ORPHA:369
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... OMIM:618641
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly OMIM:616006
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Pseudopseudohypoparathyroidism
Osteoporosis OMIM:612463
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Splenomegaly, Skeletal muscle hypertrophy, Cirrhosis, In... ORPHA:90970
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:369840
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Osteoporosis ORPHA:48431
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Osteoporosis, Increased susceptibility to fractures ORPHA:2788
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Polysple... ORPHA:457083
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility OMIM:600118
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Osteoporosis ORPHA:529665
Sialidosis Type 2
Osteoporosis, Flexion contracture ORPHA:87876
Hypophosphatemic Bone Disease
Osteomalacia, Rickets OMIM:146350
Mycetoma
Osteomyelitis, Bone cyst, Osteoporosis, Pathologic fracture, Abnormal bone structure, Painless fr... ORPHA:2583
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... ORPHA:83451
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Hepatomegaly OMIM:615238
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Abnormality of skeletal mu... ORPHA:2348
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density ORPHA:970
Glycerol Kinase Deficiency
Osteoporosis, Pathologic fracture OMIM:307030
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hall-Riggs Mental Retardation Syndrome
Osteoporosis OMIM:234250
Cranioectodermal Dysplasia
Joint hyperflexibility, Osteoporosis, Craniosynostosis ORPHA:1515
Tenosynovial Giant Cell Tumor
Localized osteoporosis, Osteolysis, Limitation of joint mobility, Joint stiffness ORPHA:66627
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Synostosis of carpal bones, Osteoporosis ORPHA:93351
Amish Lethal Microcephaly
Limitation of joint mobility, Osteoporosis, Decreased skull ossification ORPHA:99742
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Progressive Pseudorheumatoid Dysplasia
Joint stiffness, Joint contracture of the hand, Osteoarthritis, Camptodactyly of finger, Osteopor... OMIM:208230
Combined Oxidative Phosphorylation Deficiency 9
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:614582
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Macroglossia, Skeletal muscle hypertrophy, Cirrhosis, Diabetes me... ORPHA:528
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619386
Indolent Systemic Mastocytosis
Osteoporosis ORPHA:98848
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failur... OMIM:278000
Osteogenesis Imperfecta, Type Xvii
Osteoporosis OMIM:616507
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Osteopenia, Increased susceptibility to fractures OMIM:615066
Placental Insufficiency
Insulin resistance ORPHA:439167
Hyperparathyroidism 4
Osteopenia OMIM:617343
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhosis, Macrovesicular ... OMIM:256810
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Reduced bone mineral density, Osteopenia, Symmetric polyarthritis, Synovitis, Limitation of joint... ORPHA:85435
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Osteoporosis, Joint hypermobility OMIM:619131
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Thin bony cortex, Joint laxity, Joint hypermobility, Generalized osteoporosis OMIM:617952
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Flexion contracture, Camptodactyly, Elbow flexion contracture, Art... OMIM:214150
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Calf muscle pseudohypertrophy, Acute pancreatitis, Ins... ORPHA:79086
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Camptodactyly of finger, Flexion contracture of toe, Osteoporosis ORPHA:3409
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated hepatic transaminase, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density OMIM:619489
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:201450
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Peroxisome Biogenesis Disorder 3B
Osteoporosis OMIM:266510
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna ORPHA:77296
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis OMIM:615830
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... ORPHA:567983
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hepat... OMIM:261680
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Decreased carnitine level in liver, Hepatomegaly, Hepatic steatosis OMIM:212140
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... OMIM:235200
Wilson Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepa... ORPHA:905
Seckel Syndrome 10
Glucose intolerance, Elevated circulating aspartate aminotransferase concentration, Glycosuria, I... OMIM:617253
Familial Isolated Hyperparathyroidism
Osteopenia, Generalized osteoporosis ORPHA:99879
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis OMIM:615954
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure OMIM:231530
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Reduced bone mineral density ORPHA:262
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Unilateral renal agene... OMIM:308750
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:255120
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, ... ORPHA:79303
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the lower limbs, Osteoporosis, Arthritis, Osteolysis, C... ORPHA:371428
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Increased intramyocellular lipid droplets, Abnormal muscle fiber morp... ORPHA:681
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis ORPHA:300536
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Osteoporosis, Reduced bone mineral density ORPHA:2235
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Osteoporosis ORPHA:785
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Spondylo-Ocular Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:85194
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Osteopenia, Osteomalacia, Osteoporosis, Joint hyperflexibility, Rickets ORPHA:1901
Menkes Disease
Joint laxity, Osteoporosis OMIM:309400
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Contractures of the large joints, Insulin-resistant diabet... ORPHA:2457
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Osteoporosis, Arthritis, Osteolytic defects of the phalanges of the hand, Limitation ... OMIM:259100
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance ORPHA:73272
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Skeletal muscle hypertrophy, M... OMIM:613327
Infantile Systemic Hyalinosis
Joint stiffness, Recurrent fractures, Osteopenia, Camptodactyly of finger, Osteomalacia, Osteopor... ORPHA:2176
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Coxoauricular Syndrome
Reduced bone mineral density ORPHA:1508
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Macrovesicular hepatic ste... OMIM:613070
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Osteoporosis OMIM:219080
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis OMIM:619013
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Osteoporosis OMIM:610475
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Multiple prenatal fractures, Thin bony cortex, Reduced bone mineral density OMIM:619795
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:435651
Classic Galactosemia
Osteoporosis, Reduced bone mineral density ORPHA:79239
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... OMIM:600081
Geroderma Osteodysplastica
Recurrent fractures, Abnormal bone ossification, Joint hyperflexibility, Osteoporosis ORPHA:2078
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Osteoporosis, Bicoronal synostosis, Joint hypermobility OMIM:619718
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets ORPHA:71
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Hepatic steatosis ORPHA:70472
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Localized osteoporosis ORPHA:199354
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Limited elbow movement... ORPHA:93284
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Odontochondrodysplasia 1
Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility OMIM:184260
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Limitation of joint mobility, Osteoporosis OMIM:236200
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Increased bone mineral density, Osteopenia, Ankylosis, Osteoporosis OMIM:239000
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatomegaly, Hepatic failure, Increased hepatic glycogen content, He... ORPHA:2088
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Perrault Syndrome 4
Osteoporosis OMIM:615300
Geroderma Osteodysplasticum
Recurrent fractures, Hyperextensibility of the finger joints, Osteopenia, Osteoporosis, Camptodac... OMIM:231070
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Hepatomegaly, Periportal fibrosis OMIM:201475
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Decreased calvarial ossification, Severe generalized osteoporosis, Bowing of... OMIM:259420
Cantu Syndrome
Osteoporosis OMIM:239850
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Niemann-Pick Disease, Type A
Osteoporosis OMIM:257200
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Joint contracture of the hand, Osteoporosis, Wrist flexion contracture, Flexion ... OMIM:255800
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Subcutaneous ossification OMIM:103580
Desbuquois Dysplasia 1
Advanced ossification of carpal bones, Osteoarthritis, Osteoporosis, Joint laxity, Advanced tarsa... OMIM:251450
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Metatarsal osteolysis, Osteopenia, Camptodactyly of toe, Osteoporosis, Thin bony... OMIM:259600
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Generalized joint laxity, Osteopenia, Osteoarthritis, Osteoporos... OMIM:618000
Porphyria Cutanea Tarda
Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hepatocellular carcinoma, Elevated hepat... ORPHA:101330
Sickle Cell Anemia
Osteomyelitis, Osteoporosis ORPHA:232
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatic failure ORPHA:228305
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Hep... OMIM:246200
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver function ORPHA:42
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone con... ORPHA:465508
Pseudohypoparathyroidism, Type Ic
Osteoporosis OMIM:612462
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Osteoporosis OMIM:610489
Pontocerebellar Hypoplasia, Type 2E
Osteoporosis, Flexion contracture OMIM:615851
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Muscle hypertrophy of the ... ORPHA:280365
Aggressive Systemic Mastocytosis
Osteolysis, Osteoporosis, Pathologic fracture ORPHA:98850
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Cholestasis, Hepatocellular aden... ORPHA:370
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent... OMIM:615486
19P13.3 Microduplication Syndrome
Osteoporosis ORPHA:447980
Short Syndrome
Insulin resistance, Diabetes mellitus ORPHA:3163
Richards-Rundle Syndrome
Joint stiffness, Reduced bone mineral density ORPHA:1399
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Osteoporosis OMIM:615398
Wolfram Syndrome 1
Testicular atrophy, Hydroureter, Pigmentary retinopathy, Hypothyroidism, Optic atrophy, Hydroneph... OMIM:222300
Xp21 Deletion Syndrome
Joint laxity, Osteoporosis, Reduced bone mineral density ORPHA:261476
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Macroglossia, Insulin resistance, Diabetic ketoacidosis, Impaired glu... ORPHA:769
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Hepatomegaly OMIM:614922
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand, Hyperglycemia OMIM:175700
Lowry-Maclean Syndrome
Osteopenia, Osteoporosis, Craniosynostosis ORPHA:2409
Werner Syndrome
Osteoporosis, Reduced bone mineral density OMIM:277700
Propionic Acidemia
Osteoporosis OMIM:606054
Familial Multiple Lipomatosis
Insulin resistance ORPHA:199276
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Testicular atrophy OMIM:613987
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Elbow flexion contracture, Osteoporosis, Flexion contracture OMIM:614438
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Spondyloepiphyseal Dysplasia Congenita
Laryngotracheomalacia, Reduced bone mineral density, Abnormally ossified vertebrae, Osteoporosis,... ORPHA:94068
Diamond-Blackfan Anemia 7
Osteopenia, Osteoporosis OMIM:612562
Beta-Thalassemia Intermedia
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Reduced bone mineral density ORPHA:231222
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia, Decreased muscle mass ORPHA:813
Progressive Pseudorheumatoid Arthropathy Of Childhood
Joint contracture of the hand, Camptodactyly, Abnormality of hand joint mobility, Generalized ost... ORPHA:1159
Combined Oxidative Phosphorylation Deficiency 54
Lower limb muscle weakness, Hyperglycemia OMIM:619737
Whipple Disease
Insulin resistance, Hepatomegaly, Myositis, Splenomegaly ORPHA:3452
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Accessory spleen, Eleva... OMIM:300972
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Flexion contracture, Osteoporosis, Limited elbow movement, Progressive clavicula... OMIM:614008
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:212138
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets ORPHA:309031
Monosomy 13Q34
Insulin resistance, Hepatic steatosis ORPHA:96168
Methylcobalamin Deficiency Type Cble
Osteoporosis ORPHA:2169
Pachydermoperiostosis
Osteomyelitis, Osteoporosis, Arthritis, Osteolysis, Abnormal cortical bone morphology, Limitation... ORPHA:2796
Functioning Gonadotropic Adenoma
Osteopenia, Osteoporosis ORPHA:91348
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... OMIM:264700
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Osteoporosis ORPHA:2326
Osteoporosis-Pseudoglioma Syndrome
Pathologic fracture, Osteoporosis, Increased susceptibility to fractures, Joint hypermobility OMIM:259770
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Hepatocellular adenoma, Elevated hepatic tran... ORPHA:264580
Dpm1-Cdg
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis ORPHA:79322
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Mucopolysaccharidosis, Type Ivb
Joint laxity, Osteoporosis OMIM:253010
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Ivory epiphyses of the phalanges of the hand, Osteoporosis OMIM:226980
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Osteoporosis, Camptodactyly, Generalized joint laxity ORPHA:432
Refractory Celiac Disease
Osteoporosis ORPHA:398063
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic disc coloboma, Optic nerve aplasia, Vesicoureteral... OMIM:120200
Nail-Patella Syndrome
Proximal finger joint hyperextensibility, Limited pronation/supination of forearm, Flexion contra... ORPHA:2614
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Macs Syndrome
Joint laxity, Osteoporosis, Joint hypermobility OMIM:613075
Werner Syndrome
Insulin resistance, Type II diabetes mellitus, Skeletal muscle atrophy ORPHA:902
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... OMIM:614921
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility ORPHA:363705
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... OMIM:300009
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Calvarial osteosclerosis, Osteopenia, Metacarpal periosteal thickening OMIM:617994
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Neu-Laxova Syndrome
Flexion contracture, Osteopenia, Osteomalacia, Osteoporosis, Arthrogryposis multiplex congenita, ... ORPHA:2671
Mastocytosis
Recurrent fractures, Osteoporosis ORPHA:98292
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Calcinosis ORPHA:90154
Dyskeratosis Congenita, Autosomal Recessive 1
Osteoporosis OMIM:224230
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice OMIM:231680
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent fractures, Joint hypermobility, Reduced bone mineral density OMIM:619115
Stüve-Wiedemann Syndrome
Recurrent fractures, Flexion contracture of finger, Flexion contracture, Osteopenia, Camptodactyl... ORPHA:3206
Citrullinemia Type Ii
Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic fibr... ORPHA:247585
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Pathologic fracture OMIM:612199
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Skeletal muscle hypertrophy, Acute pan... OMIM:151660
X Small Rings
Joint laxity, Osteoporosis, Reduced bone mineral density ORPHA:96201
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Diastasis recti, Cholestatic liver disease, Flexion contracture, Chol... ORPHA:440713
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Micronodular cirrhosis ORPHA:98907
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... OMIM:277440
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Diabetes mellitus OMIM:616541
Short Syndrome
Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:269880
Dyskeratosis Congenita, Autosomal Dominant 3
Osteoporosis OMIM:613990
Mucopolysaccharidosis, Type Iva
Joint laxity, Osteoporosis OMIM:253000
Brittle Cornea Syndrome
Joint hyperflexibility, Osteoporosis, Increased susceptibility to fractures, Camptodactyly ORPHA:90354
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Macrovesicular hepatic steatosis, Elevated hepatic transaminase ORPHA:298
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Pathologic fracture, Hypophosphatemic rickets, Osteomalacia, Reduced bone mineral density ORPHA:157215
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Recurrent fractures, Craniosynostosis, Osteopenia, Osteoporosis, Radioulnar synostosis, Elbow fle... OMIM:245600
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex, Increase... ORPHA:289157
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Generalized joint laxity, Osteopenia, Osteoporosis, Elbow flexion contracture, Joint hyperflexibi... ORPHA:1900
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... OMIM:203700
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture ORPHA:90153
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis OMIM:219090
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Familial Chylomicronemia Syndrome
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Recurrent pancreatitis, Hepatic steatosis ORPHA:444490
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... ORPHA:456312
Aromatase Deficiency
Osteopenia, Delayed epiphyseal ossification, Osteoporosis ORPHA:91
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Thin bony cortex OMIM:309583
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficien... OMIM:260370
Dyskeratosis Congenita, Autosomal Dominant 2
Osteoporosis OMIM:613989
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... OMIM:619418
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Por... OMIM:619377
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis OMIM:127550
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure ORPHA:99901
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis OMIM:300998
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:348
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy, Biliary tract abnormality, Hepatic fibrosis, Diabetes mellitus, Ins... OMIM:209900
Cantú Syndrome
Osteoporosis ORPHA:1517
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Generalized osteoporosis ORPHA:2959
Dysbetalipoproteinemia
Acute pancreatitis, Hepatic steatosis, Hepatomegaly ORPHA:412
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatosplenomegaly, Acute pancreatitis, Elevated hepatic transaminase, Hepatic fibr... OMIM:619487
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets OMIM:212750
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Osteoporosis ORPHA:398079
Cleidocranial Dysplasia
Recurrent fractures, Osteoporosis, Decreased skull ossification ORPHA:1452
Farber Disease
Osteoporosis, Flexion contracture, Arthritis ORPHA:333
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Bowing of limbs due to multiple fractures, Increased susceptibility to fract... OMIM:166220
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Decreased muscle mass, Insulin resistance ORPHA:96182
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice OMIM:228100
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Hajdu-Cheney Syndrome
Osteopenia, Foot acroosteolysis, Osteoporosis, Pathologic fracture, Osteolytic defects of the pha... OMIM:102500
Necrotizing Enterocolitis
Peritonitis, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Fasting hypoglyce... ORPHA:508
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Osteoporosis, Increased susceptibility to fractures ORPHA:189427
Stuve-Wiedemann Syndrome 1
Osteoporosis, Pathologic fracture, Camptodactyly, Flexion contracture of toe, Elbow flexion contr... OMIM:601559
Glycogen Storage Disease Ia
Gout, Osteoporosis OMIM:232200
Cerebrotendinous Xanthomatosis
Osteoporosis OMIM:213700
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic necrosis, Hepatic steatosis, Acute hepatic failure ORPHA:71212
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:616263
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Osteoporosis ORPHA:79240
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis ORPHA:445038
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Osteoporosis, Flexion contracture ORPHA:398069
Prolactinoma
Osteopenia, Osteoporosis ORPHA:2965
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Flexion contracture, Impaired glucose tolerance, Camptodactyly, I... OMIM:248370
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Increased susceptibility to fractures ORPHA:98849
Alstrom Syndrome
Elevated hepatic transaminase, Chronic active hepatitis, Hepatomegaly, Hepatic steatosis OMIM:203800
Primary Pigmented Nodular Adrenocortical Disease
Osteoporosis, Increased susceptibility to fractures ORPHA:189439
19P13.12 Microdeletion Syndrome
Hepatic steatosis ORPHA:254346
Glycogen Storage Disease Ib
Gout, Osteoporosis OMIM:232220
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Diffuse hepatic steatosis, Hepatomegaly, Decreased liver function ORPHA:436271
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Microvesicular hepatic steatosis, Cholestasis, Elevated hepatic transam... OMIM:124000
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Osteoporosis ORPHA:98754
Hajdu-Cheney Syndrome
Recurrent fractures, Osteopenia, Joint hyperflexibility, Osteoporosis, Osteolysis, Coarse metaphy... ORPHA:955
Prader-Willi Syndrome
Osteopenia, Osteoporosis, Increased susceptibility to fractures ORPHA:739
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Recurrent fractures, Craniosynostosis, Tracheomalacia, Osteopenia, O... ORPHA:536467
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Osteoporosis ORPHA:98793
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Osteoporosis ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Osteoporosis ORPHA:177901
Dend Syndrome
Hyperglycemia ORPHA:79134
Classic Homocystinuria
Recurrent fractures, Joint stiffness, Osteoporosis ORPHA:394
Occipital Horn Syndrome
Osteoporosis, Limited elbow extension, Joint laxity, Limited knee extension, Capitate-hamate fusion OMIM:304150
Primary Biliary Cholangitis
Osteoporosis ORPHA:186
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Osteoporosis, Contracture of the proximal interphalangeal joint of the 5th finger ORPHA:2232
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Dominant Beta-Thalassemia
Osteoporosis ORPHA:231226
Prader-Willi Syndrome
Osteopenia, Osteoporosis OMIM:176270
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabe... ORPHA:99885
Gitelman Syndrome
Neoplasm of the pancreas, Glucose intolerance, Type II diabetes mellitus, Diabetic ketoacidosis, ... ORPHA:358
Frank-Ter Haar Syndrome
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly OMIM:249420
Schwartz-Jampel Syndrome
Joint stiffness, Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, ... ORPHA:800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Elevated circulating aspa... OMIM:608836
Prader-Willi-Like Syndrome
Osteopenia, Osteoporosis ORPHA:398073
Wilson Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failure, Hepatocellular car... OMIM:277900
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Osteoporosis OMIM:225400
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Synostosis of joints, Osteolysis, Joint hyperflexibility,... ORPHA:198
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Eleva... ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Elevated hepatic transaminase, Decreased liver function, Macrovesicular ... OMIM:618329
Dent Disease
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... ORPHA:1652
Steinert Myotonic Dystrophy
Cholelithiasis, Facial diplegia, Hyperinsulinemia, Weakness of facial musculature, Pelvic girdle ... ORPHA:273
Menkes Disease
Recurrent fractures, Osteomyelitis, Osteoporosis, Tarsal synostosis, Joint hyperflexibility ORPHA:565
Tbck-Related Intellectual Disability Syndrome
Osteoporosis ORPHA:488632
Hepatoerythropoietic Porphyria
Osteopenia, Osteolysis, Osteoporosis ORPHA:95159
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic calcification, Hepatic steatosis, Hepatomegaly, Hepatic failure ORPHA:228308
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hyperglycemia ORPHA:90065
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
D-Bifunctional Protein Deficiency
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Bile duct proliferation, ... OMIM:261515
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:243910
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:212065
Beta-Thalassemia Major
Osteoporosis ORPHA:231214
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Advanced ossification of carpal bones, Flexion contracture, Delayed proximal f... OMIM:271640
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis ORPHA:746
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis OMIM:616271
Bloom Syndrome
Insulin resistance, Diabetes mellitus ORPHA:125
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:134
Dyskeratosis Congenita
Recurrent fractures, Coarse metaphyseal trabecularization, Osteoporosis ORPHA:1775
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:615356
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Testicular atrophy OMIM:300322
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis ORPHA:66634
X-Linked Intellectual Disability, Snyder Type
Recurrent fractures, Osteoporosis, Camptodactyly ORPHA:3063
Lathosterolosis
Osteoporosis, Pathologic fracture OMIM:607330
Autosomal Dominant Progressive External Ophthalmoplegia
Osteoporosis ORPHA:254892
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency