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Gene: Cthrc1 MGI:1915838

Gene Summary

Name:

collagen triple helix repeat containing 1

Synonyms:

1110014B07Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
persistence of hyaloid vascular system	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	9.78×10^-06
abnormal kidney morphology	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	8.70×10^-05
abnormal liver morphology	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	0.00
small testis	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images 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.

Human diseases associated with Cthrc1 (1 diseases)
Human diseases predicted to be associated with Cthrc1 (622 diseases)

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	Matching phenotypes	Source
Cystic Angiomatosis Of Bone, Diffuse	Cystic angiomatosis of bone	OMIM:123880
Diabetes Mellitus, Transient Neonatal, 2	Type II diabetes mellitus, Transient neonatal diabetes mellitus	OMIM:610374
Osteoporosis	Osteoporosis	OMIM:166710
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, 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
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Extensor Tendons Of Finger Anomalies	Camptodactyly of finger, Limitation of joint mobility, Osteoporosis	ORPHA:3294
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ...	ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:613370
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615271
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Osteopenia And Sparse Hair	Osteopenia, Joint hypermobility	OMIM:259690
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance	ORPHA:140941
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,...	ORPHA:411593
Multiple Symmetric Lipomatosis	Insulin resistance, Hepatomegaly	ORPHA:2398
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:240600
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Idiopathic Copper-Associated Cirrhosis	Copper accumulation in liver, Cirrhosis, Hepatic steatosis	ORPHA:209919
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure	OMIM:261650
Diabetes Mellitus, Transient Neonatal, 1	Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Winchester Syndrome	Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis	OMIM:277950
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hypermobility, Osteoporosis	ORPHA:2787
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615267
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Hepatic stea...	ORPHA:79084
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones	ORPHA:53697
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Hyaline Fibromatosis Syndrome	Osteopenia, Osteoporosis, Flexion contracture, Progressive flexion contractures, Osteolysis	OMIM:228600
Cortisone Reductase Deficiency 2	Insulin resistance	OMIM:614662
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Patent Ductus Venosus	Decreased liver function, Hepatic steatosis	OMIM:601466
Diarrhea 13	Hepatic steatosis, Elevated circulating hepatic transaminase concentration	OMIM:620357
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated circulating hepatic transaminase concentration	OMIM:618400
Forsythe-Wakeling Syndrome	Osteoporosis	OMIM:613606
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic...	OMIM:136300
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Osteoporosis	ORPHA:85193
Isolated Glycerol Kinase Deficiency	Osteoporosis	ORPHA:408
Hypergonadotropic Hypogonadism-Cataract Syndrome	Reduced bone mineral density, Recurrent fractures, Osteoporosis	ORPHA:2410
Lipodystrophy, Familial Partial, Type 4	Skeletal muscle hypertrophy, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes me...	OMIM:613877
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Hepatic steatosis, Elevated circulating hepatic transaminase concentration	OMIM:616829
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures	OMIM:166260
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas	ORPHA:3032
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Hepatic steatosis, Type II diabetes mellitus	OMIM:615703
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus	OMIM:610582
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Obesity And Hypopigmentation	Hepatic steatosis	OMIM:620195
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Myopathy	ORPHA:79087
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia	OMIM:615266
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia	OMIM:618858
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Insulin resistance, Diabetes mellitus, Hepatic st...	OMIM:612526
Glycogen Storage Disease Vi	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	OMIM:232700
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin...	OMIM:604367
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hyperglycemia, Transien...	ORPHA:99886
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Skeletal muscle atrophy, Insulin resistance, Diabetes mellitus, Hepatic steat...	OMIM:615980
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Mu-Heavy Chain Disease	Osteoporosis, Osteolysis	ORPHA:100024
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:609812
Hypercholanemia, Familial, 2	Osteopenia	OMIM:619256
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:614880
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis	ORPHA:71267
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr...	OMIM:603471
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia	OMIM:606176
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus	ORPHA:90301
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint hypermobility, Osteoporosis	OMIM:616033
Gracile Syndrome	Elevated hepatic iron concentration, Cirrhosis, Cholestasis, Hepatic steatosis	ORPHA:53693
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Hyperzincemia With Functional Zinc Depletion	Osteoporosis	OMIM:601979
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis	OMIM:126550
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Rothmund-Thomson Syndrome, Type 1	Osteoporosis	OMIM:618625
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Abnormal bone ossification, Coarse metaphyseal trabecularization, Epiphyseal stippling	ORPHA:1952
Juvenile Paget Disease	Cranial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Osteoporosis	ORPHA:2801
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis	ORPHA:2958
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Hepatomegaly, Hepatic steatosis, Insulin-resistant diabetes mellitus	ORPHA:79085
Thrombocytopenia 6	Myelofibrosis, Osteoporosis	OMIM:616937
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Flexion contracture	OMIM:618856
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia	OMIM:617885
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance, Torticollis	OMIM:620639
Prieto Syndrome	Osteoporosis	OMIM:309610
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:617974
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Type 1 Diabetes Mellitus	Diabetes mellitus, Hyperglycemia	OMIM:222100
Congenital Bile Acid Synthesis Defect Type 1	Osteoporosis	ORPHA:79301
Eiken Syndrome	Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,...	ORPHA:79106
Congenital Disorder Of Glycosylation, Type Iik	Joint hypermobility, Osteoporosis	OMIM:614727
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Analbuminemia	Osteoporosis	OMIM:616000
Bruck Syndrome	Joint stiffness, Arthrogryposis multiplex congenita, Recurrent fractures, Osteoporosis	ORPHA:2771
Bruck Syndrome 1	Ankle flexion contracture, Elbow flexion contracture, Osteoporosis, Hip contracture, Knee flexion...	OMIM:259450
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis	OMIM:618234
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele...	OMIM:619048
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp...	OMIM:262190
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Hepatic steatosis	OMIM:606069
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hepatic steatosis, Hepatic failure	OMIM:617872
Perrault Syndrome 1	Osteoporosis	OMIM:233400
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Maternal diabetes, Abnormality of skeletal muscle fiber size, Pancreatit...	ORPHA:79083
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi...	OMIM:600785
Peroxisomal Acyl-Coa Oxidase Deficiency	Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ...	OMIM:264470
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Osteoporosis	OMIM:620532
Lipe-Related Familial Partial Lipodystrophy	Proximal muscle weakness in upper limbs, Hepatomegaly, Skeletal muscle hypertrophy, Insulin resis...	ORPHA:435660
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis	ORPHA:79230
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Osteoporosis	ORPHA:319195
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Osteoporosis	OMIM:614838
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase...	OMIM:615438
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis	ORPHA:280356
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatic steatosis, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase conc...	OMIM:618805
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis	OMIM:608709
Severe Neurodegenerative Syndrome With Lipodystrophy	Cirrhosis, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hepatic steatosis, Myopathy	ORPHA:363400
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Hypermobility of interphalangeal joints, Osteoporosis, G...	OMIM:613849
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani...	OMIM:618528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:615381
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, ...	ORPHA:2848
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Osteoporosis	ORPHA:369
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	OMIM:618641
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H...	ORPHA:209902
Lipodystrophy, Familial Partial, Type 1	Acute pancreatitis, Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:608600
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Mody	Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancreatic hypoplasia, Glycosuria...	ORPHA:552
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Flexion contracture of toe, Finger joint contracture, Osteoporosis	ORPHA:48431
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis	ORPHA:26792
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:369840
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint hypermobility, Osteoporosis, Increased susceptibility to fractures	ORPHA:2788
Sialidosis Type 2	Flexion contracture, Osteoporosis	ORPHA:87876
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Mycetoma	Bone cyst, Abnormal bone structure, Osteoporosis, Painless fractures due to injury, Pathologic fr...	ORPHA:2583
Warburg Micro Syndrome 1	Joint hypermobility, Osteoporosis	OMIM:600118
Pseudopseudohypoparathyroidism	Osteoporosis	OMIM:612463
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:618392
Placental Insufficiency	Insulin resistance	ORPHA:439167
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Osteoporosis	OMIM:616006
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi...	ORPHA:83451
Hall-Riggs Syndrome	Osteoporosis	OMIM:234250
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertroph...	ORPHA:2348
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Hepatomegaly, Macrovesicular hepatic ste...	OMIM:600649
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis	ORPHA:970
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele...	OMIM:614582
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:64743
Cranioectodermal Dysplasia	Joint hypermobility, Craniosynostosis, Osteoporosis	ORPHA:1515
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Osteolysis	OMIM:176670
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Synostosis of carpal bones, Osteoporosis	ORPHA:93351
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Periportal fibrosis, Portal hypertension, Elevated circulating alanine a...	OMIM:278000
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele...	OMIM:619386
Progressive Pseudorheumatoid Dysplasia	Osteoporosis, Joint stiffness, Camptodactyly of finger, Osteoarthritis, Joint contracture of the ...	OMIM:208230
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Indolent Systemic Mastocytosis	Osteoporosis	ORPHA:98848
Congenital Generalized Lipodystrophy	Cirrhosis, Hyperinsulinemia, Hepatomegaly, Skeletal muscle hypertrophy, Insulin resistance, Diabe...	ORPHA:528
Hyperparathyroidism 4	Osteopenia	OMIM:617343
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis	ORPHA:99879
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis	ORPHA:77296
Osteogenesis Imperfecta, Type Xxi	Joint hypermobility, Recurrent fractures, Osteoporosis	OMIM:619131
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Inc...	OMIM:261680
Cerebrooculofacioskeletal Syndrome 1	Elbow flexion contracture, Camptodactyly, Flexion contracture, Knee flexion contracture, Insulin ...	OMIM:214150
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Osteogenesis Imperfecta, Type Xviii	Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Thin bony cortex	OMIM:617952
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Flexion contracture of toe, Recurrent fractures, Osteoporosis	ORPHA:3409
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Ketotic hypoglycemia, Elevated circulating hepatic transaminase concentration, Postpr...	ORPHA:2089
Seckel Syndrome 10	Glucose intolerance, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanine...	OMIM:617253
Acquired Generalized Lipodystrophy	Cirrhosis, Hyperinsulinemia, Hepatomegaly, Calf muscle pseudohypertrophy, Acute pancreatitis, Ins...	ORPHA:79086
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density	OMIM:619489
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis	OMIM:615830
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Arthritis, Limitation of joint...	ORPHA:85435
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute...	ORPHA:905
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Proximal amyotrophy, Hyperglycemia	OMIM:604484
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis	OMIM:231530
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Osteoporosis	OMIM:560000
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Biliary cirrhosis, Glycosu...	ORPHA:2298
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome...	ORPHA:79303
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:201450
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul...	OMIM:615595
Tenosynovial Giant Cell Tumor	Localized osteoporosis, Limitation of joint mobility, Joint stiffness, Joint hemorrhage, Osteolysis	ORPHA:66627
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin...	ORPHA:371428
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Osteop...	OMIM:614856
Liver Failure, Infantile, Transient	Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Spondyloepiphyseal Dysplasia, Maroteaux Type	Generalized osteoporosis, Small joint hypermobilty	OMIM:184095
Bardet-Biedl Syndrome 19	Hepatic steatosis	OMIM:615996
Ddost-Cdg	Hepatic steatosis, Elevated circulating hepatic transaminase concentration	ORPHA:300536
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly	OMIM:619013
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatomegaly, Pancreatitis	ORPHA:435651
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Osteopenia, Osteoporosis, Joint stiffness, Osteomalacia, Joint hypermobility	ORPHA:1901
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis	ORPHA:210548
Amish Lethal Microcephaly	Limitation of joint mobility, Decreased skull ossification, Osteoporosis	ORPHA:99742
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Elevated circulating alanine aminotransferase concentration, Prolonged neona...	OMIM:619481
Hypokalemic Periodic Paralysis	Abnormal muscle fiber morphology, Postprandial hyperglycemia, Increased intramyocellular lipid dr...	ORPHA:681
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Reduced bone mineral density, Recurrent fractures, Osteoporosis	ORPHA:2235
Estrogen Resistance Syndrome	Osteopenia, Osteoporosis, Delayed epiphyseal ossification	ORPHA:785
Lipodystrophy, Congenital Generalized, Type 4	Muscular dystrophy, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, He...	OMIM:613327
Rhyns Syndrome	Osteopenia, Osteoporosis	OMIM:602152
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Osteoporosis	OMIM:219080
Menkes Disease	Joint hypermobility, Osteoporosis	OMIM:309400
Spondylo-Ocular Syndrome	Joint hypermobility, Osteoporosis	ORPHA:85194
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Osteoporosis	OMIM:610475
Infantile Systemic Hyalinosis	Osteopenia, Osteoporosis, Joint stiffness, Camptodactyly of finger, Osteomalacia, Recurrent fract...	ORPHA:2176
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:605911
Classic Galactosemia	Reduced bone mineral density, Osteoporosis	ORPHA:79239
Adrenomyodystrophy	Hepatic steatosis	ORPHA:977
Coxoauricular Syndrome	Reduced bone mineral density	ORPHA:1508
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Microvesicular hepatic steatosis, Reduced muscle carnitine level, Decreased carniti...	OMIM:212140
Mandibuloacral Dysplasia	Hyperinsulinemia, Glucose intolerance, Insulin resistance, Contractures of the large joints, Insu...	ORPHA:2457
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Bicoronal synostosis, Joint hypermobility, Osteoporosis, Osteopenia	OMIM:619718
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Osteolytic defects of the phalanges of the hand, Arthritis, Limitation of joint mobil...	OMIM:259100
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Osteogenesis Imperfecta, Type Xxii	Multiple prenatal fractures, Reduced bone mineral density, Recurrent fractures, Thin bony cortex	OMIM:619795
Geroderma Osteodysplastica	Joint hypermobility, Abnormal bone ossification, Recurrent fractures, Osteoporosis	ORPHA:2078
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro...	OMIM:251880
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia	ORPHA:73272
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Hepatic steatosis	ORPHA:70472
Peroxisome Biogenesis Disorder 3B	Osteoporosis	OMIM:266510
Odontochondrodysplasia 1	Joint hypermobility, Delayed ossification of carpal bones, Osteoporosis	OMIM:184260
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis	ORPHA:199354
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal...	ORPHA:101330
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:255120
Osteogenesis Imperfecta, Type Xvii	Joint hypermobility, Reduced bone mineral density, Recurrent fractures, Osteoporosis	OMIM:616507
Hypermethioninemia Due To Adenosine Kinase Deficiency	Cholestasis, Hepatic steatosis, Portal fibrosis, Elevated circulating alanine aminotransferase co...	OMIM:614300
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:42
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Cervical C2/C3 vertebral fusion, Osteoporosis, Osteoarthritis, Joint hypermobility, G...	OMIM:618000
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Generalized osteoporosis, Limitation of joint mobility, Osteoporosis	OMIM:236200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatocellular necrosis, Hepatomegaly, Hepatic steatosis, Periportal fibrosis	OMIM:201475
Perrault Syndrome 4	Osteoporosis	OMIM:615300
Chylomicron Retention Disease	Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Increased hepatocellu...	ORPHA:71
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Osteoporosis, Ankylosis, Recurrent fractures	OMIM:239000
Spondyloepiphyseal Dysplasia Tarda	Localized osteoporosis, Limited elbow movement, Stiff knee, Hip osteoarthritis, Increased bone mi...	ORPHA:93284
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contracture	OMIM:620232
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic...	ORPHA:228305
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall...	OMIM:615710
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:600081
Osteogenesis Imperfecta, Type Iii	Decreased calvarial ossification, Multiple prenatal fractures, Severe generalized osteoporosis, B...	OMIM:259420
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration...	OMIM:615486
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Ankylosis of feet small joints, Car...	OMIM:259600
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo...	OMIM:300554
Cantu Syndrome	Osteoporosis	OMIM:239850
Schwartz-Jampel Syndrome, Type 1	Flexion contracture of toe, Shoulder flexion contracture, Wrist flexion contracture, Osteoporosis...	OMIM:255800
Niemann-Pick Disease, Type A	Osteoporosis	OMIM:257200
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Osteoporosis	OMIM:616200
Fanconi-Bickel Syndrome	Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,...	ORPHA:2088
Pseudohypoparathyroidism, Type Ia	Subcutaneous ossification, Osteoporosis	OMIM:103580
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Camptodactyly, Osteoporosis, Recurrent fract...	OMIM:231070
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con...	OMIM:616433
Desbuquois Dysplasia 1	Osteoporosis, Advanced tarsal ossification, Osteoarthritis, Joint hypermobility, Advanced ossific...	OMIM:251450
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density	ORPHA:1399
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosi...	OMIM:222300
Immunodeficiency 12	Osteoporosis	OMIM:615468
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:610198
Pontocerebellar Hypoplasia, Type 2E	Flexion contracture, Osteoporosis	OMIM:615851
19P13.3 Microduplication Syndrome	Osteoporosis	ORPHA:447980
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology	ORPHA:1332
Microphthalmia/Coloboma 12	Vesicoureteral reflux, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretina...	OMIM:120200
Aggressive Systemic Mastocytosis	Pathologic fracture, Osteoporosis, Osteolysis	ORPHA:98850
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Osteoporosis	OMIM:610489
Werner Syndrome	Reduced bone mineral density, Osteoporosis	OMIM:277700
Propionic Acidemia	Osteoporosis	OMIM:606054
Citrullinemia, Type Ii, Neonatal-Onset	Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Portal fibrosis, Microvesi...	OMIM:605814
Xp21 Deletion Syndrome	Joint hypermobility, Reduced bone mineral density, Osteoporosis	ORPHA:261476
Donohue Syndrome	Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Hyperglycemia, Skeletal muscle atrophy, Hepa...	OMIM:246200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Pancreatitis, Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremit...	ORPHA:280365
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Elbow flexion contracture, Flexion contracture, Osteoporosis	OMIM:614438
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Progressive clavicular acroosteolysis, Osteolytic defects of the distal p...	OMIM:614008
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Chronic hepatic failure,...	ORPHA:465508
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic...	ORPHA:541423
Short Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:3163
Rabson-Mendenhall Syndrome	Fasting hypoglycemia, Impaired glucose tolerance, Diabetic ketoacidosis, Insulin resistance, Fast...	ORPHA:769
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminot...	OMIM:617093
Pseudohypoparathyroidism, Type Ic	Osteoporosis	OMIM:612462
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Lambdoidal craniosynostosis, Osteoporosis	OMIM:615398
Mucolipidosis Type Iii Alpha/Beta	Generalized osteoporosis, Joint stiffness, Flexion contracture, Osteolysis	ORPHA:423461
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Osteoporosis	ORPHA:2409
Beta-Thalassemia Intermedia	Osteopenia, Reduced bone mineral density, Osteoporosis, Increased susceptibility to fractures	ORPHA:231222
Familial Multiple Lipomatosis	Insulin resistance	ORPHA:199276
Diamond-Blackfan Anemia 7	Osteopenia, Osteoporosis	OMIM:612562
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat...	OMIM:256810
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur...	OMIM:241530
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating hepatic transaminase con...	ORPHA:264580
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Hyperinsulinemia	ORPHA:230
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Reduced bone mineral density, Laryngotracheomalacia, Abnormally ossified ...	ORPHA:94068
Congenital Myopathy 22A, Classic	Hip contracture, Congenital finger flexion contractures, Osteoporosis, Achilles tendon contracture	OMIM:620351
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Osteoporosis	OMIM:617190
Immunodeficiency 47	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Accessory splee...	OMIM:300972
Methylcobalamin Deficiency Type Cble	Osteoporosis	ORPHA:2169
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hepati...	OMIM:611126
Dpm1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hepati...	ORPHA:79322
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Silver-Russell Syndrome	Insulin resistance, Decreased muscle mass, Recurrent hypoglycemia	ORPHA:813
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Testicular atrophy	OMIM:613987
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Lower limb muscle weakness	OMIM:619737
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ...	OMIM:614921
Functioning Gonadotropic Adenoma	Osteopenia, Osteoporosis	ORPHA:91348
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Monosomy 13Q34	Insulin resistance, Hepatic steatosis	ORPHA:96168
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Osteoporosis	ORPHA:309031
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, In...	ORPHA:98907
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp...	OMIM:615453
Whipple Disease	Myositis, Insulin resistance, Hepatomegaly, Splenomegaly	ORPHA:3452
Carnitine-Acylcarnitine Translocase Deficiency	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:212138
Pachydermoperiostosis	Abnormal cortical bone morphology, Arthritis, Limitation of joint mobility, Osteoporosis, Osteoly...	ORPHA:2796
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Progressive Pseudorheumatoid Arthropathy Of Childhood	Limitation of joint mobility, Camptodactyly, Generalized osteoporosis, Abnormality of hand joint ...	ORPHA:1159
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Osteoporosis	ORPHA:2326
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Camptodactyly, Osteoporosis, Generalized joint hypermobility	ORPHA:432
Refractory Celiac Disease	Osteoporosis	ORPHA:398063
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatomegaly, Hepatic steatosis	OMIM:614922
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis	ORPHA:52430
Werner Syndrome	Insulin resistance, Type II diabetes mellitus, Skeletal muscle atrophy	ORPHA:902
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Irregular tarsal ossification, Osteoporosis, Ivory epiphyses of the phalanges of the hand	OMIM:226980
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Coronal craniosynostosis, Orbital craniosynostosis, Rec...	OMIM:112240
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:610717
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Joint hypermobility, Reduced bone mineral density, Recurrent fractures	OMIM:619115
Cole Disease	Hyperglycemia	OMIM:615522
Dent Disease 1	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur...	OMIM:300009
Nail-Patella Syndrome	Limited elbow extension, Reduced bone mineral density, Knee joint hypermobility, Knee flexion con...	ORPHA:2614
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatosis	ORPHA:298
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Abnormal muscle fiber morphology, Hyperglycemia, Joint contracture of the hand	OMIM:175700
Craniofaciofrontodigital Syndrome	Osteopenia, Joint hypermobility, Finger joint hypermobility, Osteoporosis	ORPHA:363705
Citrullinemia Type Ii	Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentration, Hepatocellul...	ORPHA:247585
Neu-Laxova Syndrome	Rickets, Osteopenia, Osteoporosis, Flexion contracture, Osteomalacia, Arthrogryposis multiplex co...	ORPHA:2671
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis	OMIM:231680
Brittle Cornea Syndrome	Joint hypermobility, Camptodactyly, Osteoporosis, Increased susceptibility to fractures	ORPHA:90354
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Elbow flexion contracture, Osteoporosis, Generalized osteoporosis, Radioulnar synosto...	OMIM:245600
Mucopolysaccharidosis, Type Ivb	Joint stiffness, Joint hypermobility, Osteoporosis	OMIM:253010
Mucopolysaccharidosis, Type Iva	Joint hypermobility, Osteoporosis	OMIM:253000
Stüve-Wiedemann Syndrome	Osteopenia, Abnormal cortical bone morphology, Elbow flexion contracture, Limitation of joint mob...	ORPHA:3206
Osteootohepatoenteric Syndrome	Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Hepa...	OMIM:619377
Gaucher Disease Type 1	Osteopenia, Osteoporosis, Osteoarthritis, Pathologic fracture, Osteolysis	ORPHA:77259
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:264700
X Small Rings	Joint hypermobility, Reduced bone mineral density, Osteoporosis	ORPHA:96201
Vitamin D-Dependent Rickets, Type 2A	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:277440
Macs Syndrome	Joint hypermobility, Osteoporosis	OMIM:613075
Dyskeratosis Congenita, Autosomal Recessive 1	Osteoporosis	OMIM:224230
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis	OMIM:210200
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Diastasis recti, Cholestasis, Portal hypertension, Flexion contracture...	ORPHA:440713
Lipodystrophy, Familial Partial, Type 2	Increased intramuscular fat, Hyperinsulinemia, Hepatomegaly, Skeletal muscle hypertrophy, Acute p...	OMIM:151660
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Diabetes mellitus	OMIM:616541
Pancreatic Agenesis 1	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de...	OMIM:260370
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Calcinosis	ORPHA:90154
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Distal joint hypermobility, Elbow flexion contracture, Osteoporosis, Joint hypermobil...	ORPHA:1900
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus	OMIM:615812
Pituitary Adenoma 4, Acth-Secreting	Osteoporosis	OMIM:219090
Dyskeratosis Congenita, Autosomal Dominant 2	Osteoporosis	OMIM:613989
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Thin bony cortex, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis	OMIM:309583
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Accessory spleen, Microvesicular hepatic stea...	OMIM:619418
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Hepatic steatosis, Elevated circulating hepatic transaminase concentration	ORPHA:99901
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Flexion contracture	ORPHA:90153
Celiac Disease, Susceptibility To, 1	Rickets, Osteoporosis	OMIM:212750
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Reduced bone mineral density, Pathologic fracture, Hypophosphatemic rickets	ORPHA:157215
Aromatase Deficiency	Osteopenia, Osteoporosis, Delayed epiphyseal ossification	ORPHA:91
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis	OMIM:300998
Dysbetalipoproteinemia	Acute pancreatitis, Hepatomegaly, Hepatic steatosis	ORPHA:412
Familial Chylomicronemia Syndrome	Jaundice, Acute pancreatitis, Hepatosplenomegaly, Recurrent pancreatitis, Hepatic steatosis	ORPHA:444490
Cimdag Syndrome	Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis	OMIM:619273
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Pathologic fracture, Osteoporosis, Increased susceptibility to fractures	OMIM:612199
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr...	OMIM:614924
Bardet-Biedl Syndrome 1	Biliary tract abnormality, Left ventricular hypertrophy, Insulin resistance, Hepatic fibrosis, Di...	OMIM:209900
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas...	ORPHA:456312
Fructose-1,6-Bisphosphatase Deficiency	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:348
Cleidocranial Dysplasia	Recurrent fractures, Decreased skull ossification, Osteoporosis	ORPHA:1452
Progeria-Short Stature-Pigmented Nevi Syndrome	Generalized osteoporosis, Multiple joint contractures, Osteopenia	ORPHA:2959
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Hyperglycemia, Flexion contracture, Glucose intolerance, Insulin-resistant diab...	OMIM:608612
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Portal...	OMIM:619487
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Osteoporosis	OMIM:613990
Farber Disease	Arthritis, Flexion contracture, Osteoporosis	ORPHA:333
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Osteoporosis	ORPHA:398079
Cantú Syndrome	Osteoporosis	ORPHA:1517
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa...	OMIM:617156
Neutral Lipid Storage Myopathy	Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Incr...	ORPHA:98908
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis	OMIM:620601
Glycogen Storage Disease Ia	Osteoporosis, Gout	OMIM:232200
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Decreased muscle mass, Fasting hypoglycemia	ORPHA:96182
Premature Aging Syndrome, Penttinen Type	Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Joint contracture, Flexion ...	OMIM:601812
Osteogenesis Imperfecta, Type Iv	Bowing of limbs due to multiple fractures, Reduced bone mineral density, Recurrent fractures, Inc...	OMIM:166220
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated circulating hepatic transami...	ORPHA:71212
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Elevated circulating hepatic transaminase concentration	ORPHA:445038
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Pathologic fracture, Elbow flexion contracture, Osteoporosis, Camptod...	OMIM:601559
Cerebrotendinous Xanthomatosis	Osteoporosis	OMIM:213700
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology	OMIM:612301
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Osteoporosis	ORPHA:79240
Leprechaunism	Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Skeletal muscle atrophy, Insulin resistance...	ORPHA:508
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Pathologic fracture, Osteoporosis, Joint hypermobility, Recurrent fractures, Increase...	OMIM:259770
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia...	OMIM:208085
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tracheomalacia, Osteoporosis, Radioulnar synostosis, Joint hypermobility, Craniosynos...	ORPHA:536467
19P13.12 Microdeletion Syndrome	Hepatic steatosis	ORPHA:254346
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:608836
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Osteoporosis, Increased susceptibility to fractures	ORPHA:189427
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex,...	ORPHA:289157
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hepatomegaly, Diffuse hepatic steatosis	ORPHA:436271
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis	OMIM:616672
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Osteoporosis	ORPHA:398069
Lathosterolosis	Osteoporosis	OMIM:607330
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Prolactinoma	Osteopenia, Osteoporosis	ORPHA:2965
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Bile duct proliferation, Elevated circulating hepatic transaminase conc...	OMIM:618329
Dend Syndrome	Hyperglycemia	ORPHA:79134
Systemic Mastocytosis With Associated Hematologic Neoplasm	Osteoporosis, Increased susceptibility to fractures	ORPHA:98849
Dyskeratosis Congenita, Autosomal Dominant 1	Osteoporosis	OMIM:127550
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic fibrosis, Hepatic s...	OMIM:616263
Hajdu-Cheney Syndrome	Osteopenia, Decreased skull ossification, Osteoporosis, Coarse metaphyseal trabecularization, Joi...	ORPHA:955
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Pancreatic aplasia, Hyperglycemia, Flexion contracture, Hypoglycemia, Diab...	OMIM:609069
Glycogen Storage Disease Ib	Osteoporosis, Gout	OMIM:232220
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro...	OMIM:261515
Prader-Willi Syndrome	Osteopenia, Osteoporosis, Increased susceptibility to fractures	ORPHA:739
Glass Syndrome	Generalized osteoporosis, Camptodactyly	OMIM:612313
Dominant Beta-Thalassemia	Osteoporosis	ORPHA:231226
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Osteoporosis	ORPHA:98754
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Joint stiffness, Recurrent fractures, Osteoporosis	ORPHA:394
Hajdu-Cheney Syndrome	Osteopenia, Osteolytic defects of the phalanges of the hand, Pathologic fracture, Osteoporosis, J...	OMIM:102500
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis	ORPHA:2232
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Osteoporosis	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Osteoporosis	ORPHA:177904
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Hepatomegaly, Elbow flexion contracture, Impaired glucose tolerance...	OMIM:248370
Frank-Ter Haar Syndrome	Osteopenia, Camptodactyly, Cortical irregularity, Osteoporosis	OMIM:249420
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Osteoporosis	ORPHA:177901
Schwartz-Jampel Syndrome	Flexion contracture of toe, Increased bone mineral density, Shoulder flexion contracture, Abnorma...	ORPHA:800
Necrotizing Enterocolitis	Peritonitis, Hyperglycemia, Abnormal glucose homeostasis	ORPHA:391673
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr...	ORPHA:93111
Prader-Willi Syndrome	Osteopenia, Osteoporosis	OMIM:176270
Sickle Cell Anemia	Osteomyelitis, Osteoporosis	ORPHA:232
Occipital Horn Syndrome	Rickets, Osteopenia, Synostosis of joints, Osteoporosis, Osteomalacia, Joint hypermobility, Osteo...	ORPHA:198
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hepatic steatosis, Hepatic calcification, Hepatic failure	ORPHA:228308
Isolated Permanent Neonatal Diabetes Mellitus	Lower-limb joint contracture, Pancreatic hypoplasia, Glycosuria, Reduced pancreatic beta cells, H...	ORPHA:99885
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Rhabdomyolysis, Type II diabetes mellitus, Diabetic ...	ORPHA:358
Congenital Disorder Of Glycosylation, Type Ia	Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:212065
Dent Disease	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur...	ORPHA:1652
Mitochondrial Trifunctional Protein Deficiency	Chronic hepatic failure, Cholestasis, Diffuse hepatic steatosis	ORPHA:746
Tbck-Related Intellectual Disability Syndrome	Osteoporosis	ORPHA:488632
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Hepatomegaly, Increased hepatocellular lipid droplets, Increased intram...	OMIM:220110
Dyskeratosis Congenita	Coarse metaphyseal trabecularization, Recurrent fractures, Osteoporosis	ORPHA:1775
3-Methylglutaconic Aciduria, Type Viib	Hepatic steatosis	OMIM:616271
Hepatoerythropoietic Porphyria	Osteopenia, Osteoporosis, Osteolysis	ORPHA:95159
Steinert Myotonic Dystrophy	Hyperinsulinemia, Pelvic girdle muscle weakness, Elevated circulating hepatic transaminase concen...	ORPHA:273
Bloom Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:125
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:615356
Menkes Disease	Tarsal synostosis, Osteoporosis, Joint hypermobility, Recurrent fractures, Osteomyelitis	ORPHA:565
Beta-Thalassemia Major	Osteoporosis	ORPHA:231214
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint hypermobility, Osteoporosis	OMIM:225400
Dilated Cardiomyopathy With Ataxia	Microvesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration	ORPHA:66634
Occipital Horn Syndrome	Limited elbow extension, Limited knee extension, Osteoporosis, Joint hypermobility, Capitate-hama...	OMIM:304150
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Beta-Ketothiolase Deficiency	Hypoglycemia, Hepatomegaly, Hyperglycemia	ORPHA:134
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Pathologic fracture, Osteoporosis, Delayed proximal femoral epiphyseal ossification, Flexion cont...	OMIM:271640
Lesch-Nyhan Syndrome	Testicular atrophy, Nephrocalcinosis, Hyperuricosuria, Nephrolithiasis	OMIM:300322
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia, Left ventricular hypertrophy	ORPHA:90065
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Macrovesicular hepatic steatosis, Splenomegaly	OMIM:617303
Glycerol Kinase Deficiency	Pathologic fracture, Osteoporosis	OMIM:307030
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Generalized joint hypermobility, Elbow flexion contracture, Generalized osteoporosis,...	ORPHA:536471
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminot...	OMIM:227810
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P...	OMIM:124000
Diaphanospondylodysostosis	Abnormal liver lobulation	OMIM:608022
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h...	OMIM:203700
X-Linked Intellectual Disability, Snyder Type	Camptodactyly, Recurrent fractures, Osteoporosis	ORPHA:3063
Lysinuric Protein Intolerance	Recurrent fractures, Osteoporosis	OMIM:222700
Autosomal Dominant Progressive External Ophthalmoplegia	Osteoporosis	ORPHA:254892
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Reduced bone mineral density, Osteoporosis	ORPHA:168558
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati...	OMIM:608594
Fructose Intolerance, Hereditary	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hepat...	OMIM:229600
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Reduced bone mineral density, Osteoporosis	ORPHA:289548
Lipodystrophy, Familial Partial, Type 7	Impaired glucose tolerance, Recurrent pancreatitis, Insulin resistance, Type I diabetes mellitus,...	OMIM:606721
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Hepatocellular carcinoma, Elevated circulatin...	OMIM:277900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Gout	ORPHA:79259
Osteogenesis Imperfecta	Osteopenia, Reduced bone mineral density, Abnormal cortical bone morphology, Fractures of the lon...	ORPHA:666
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pancreatit...	ORPHA:20
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya...	ORPHA:91495
Cerebrotendinous Xanthomatosis	Osteopenia, Osteoporosis, Increased susceptibility to fractures	ORPHA:909
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Joint hypermobility, Osteoporosis	ORPHA:536545
Primary Biliary Cholangitis	Osteoporosis	ORPHA:186
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic fibrosi...	ORPHA:14
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	ORPHA:247598
Arima Syndrome	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Cirrhosis	OMIM:243910
Cystic Fibrosis	Osteopenia, Osteoporosis	ORPHA:586
Rothmund-Thomson Syndrome, Type 2	Osteoporosis	OMIM:268400
Lysosomal Acid Lipase Deficiency	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Micr...	ORPHA:275761
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Reduced bone mineral density, Increased suscepti...	ORPHA:2909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati...	OMIM:269700
Congenital Disorder Of Deglycosylation 1	Osteoporosis	OMIM:615273
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Rickets, Osteopenia, Abnormally ossified vertebrae, Osteoporosis, Osteomalacia	ORPHA:2636
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Reduced bone mineral density, Osteoporosis	ORPHA:90796
Marfan Syndrome	Osteopenia, Limited elbow movement, Reduced bone mineral density, Osteoporosis, Arthralgia/arthri...	ORPHA:558
Cockayne Syndrome B	Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the hand	OMIM:133540
Primary Sclerosing Cholangitis	Osteopenia, Osteoporosis	ORPHA:171
Cranioectodermal Dysplasia 1	Joint hypermobility, Sagittal craniosynostosis, Osteoporosis	OMIM:218330
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increas...	ORPHA:17
Bardet-Biedl Syndrome	Impaired fasting glucose, Elevated circulating hepatic transaminase concentration, Type II diabet...	ORPHA:110
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis	ORPHA:99880
Immunodeficiency 87 And Autoimmunity	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:619573
Pearson Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macronodular cirrhosis, Hy...	ORPHA:699
Dpagt1-Cdg	Camptodactyly, Flexion contracture, Osteoporosis	ORPHA:86309
Pierson Syndrome	Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorr...	OMIM:609049
Parathyroid Carcinoma	Osteoporosis	ORPHA:143
Alstrom Syndrome	Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chronic ...	OMIM:203800
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Cho...	OMIM:613658
Glycogen Storage Disease Due To Acid Maltase Deficiency	Flexion contracture, Osteoporosis	ORPHA:365
Atypical Werner Syndrome	Reduced bone mineral density, Osteolytic defects of the phalanges of the hand, Increased bone min...	ORPHA:79474
Congenital Erythropoietic Porphyria	Osteopenia, Osteoporosis, Osteolysis	ORPHA:79277
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:619525
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Tsh-Secreting Pituitary Adenoma	Osteopenia, Osteoporosis	ORPHA:91347
Rothmund-Thomson Syndrome Type 2	Osteopenia, Finger symphalangism, Abnormal trabecular bone morphology, Pathologic fracture, Synos...	ORPHA:221016
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hypoglycemia, Hyperglycemia	OMIM:620423
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis	ORPHA:79408
Lysinuric Protein Intolerance	Osteopenia, Pathologic fracture, Osteoporosis	ORPHA:470
Wolf-Hirschhorn Syndrome	Osteoporosis	ORPHA:280
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis	OMIM:619934
Bloom Syndrome	Hepatic steatosis	OMIM:210900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Generalized osteoporosis, Osteopenia	ORPHA:391487
Mosaic Trisomy 9	Abnormal liver lobulation, Asplenia	ORPHA:99776
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Microvesicular hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hepatocellular necrosis	OMIM:618278
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Severe generalized osteoporosis, Hip contracture, Knee flexion contracture	OMIM:210730
Rothmund-Thomson Syndrome Type 1	Osteopenia, Finger symphalangism, Abnormal trabecular bone morphology	ORPHA:221008
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hepatic steatosis, Splenomegaly, Hepatitis	OMIM:615846
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Remnants of the...	OMIM:620185
Liver Disease, Severe Congenital	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:619991
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ste...	ORPHA:404454
Aneurysm-Osteoarthritis Syndrome	Knee osteoarthritis, Osteoporosis, Camptodactyly of finger, Osteoarthritis of the small joints of...	ORPHA:284984
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Pathologic fracture, Osteoporosis	ORPHA:77293
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Biliary atresia, Pancreatic hypoplasia, Aplasia of the left hemi...	OMIM:600001
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Lower-limb joint contracture, Osteoporosis	ORPHA:459070
Dyskeratosis Congenita, X-Linked	Osteoporosis	OMIM:305000
Acromelic Frontonasal Dysostosis	Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system	OMIM:603671
Microphthalmia, Syndromic 2	Hypospadias, Retinal detachment, Remnants of the hyaloid vascular system, Hypothyroidism, Adrenal...	OMIM:300166
Severe Generalized Junctional Epidermolysis Bullosa	Osteoporosis	ORPHA:79404
46,Xy Partial Gonadal Dysgenesis	Osteoporosis	ORPHA:251510
Loeys-Dietz Syndrome 2	Camptodactyly, Osteoporosis, Joint hypermobility, Craniosynostosis, Joint contracture of the hand	OMIM:610168
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elevated hepatic iron concentration, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis	OMIM:300868
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Reduced bone mineral density, Osteoporosis	ORPHA:99413
Turner Syndrome	Osteopenia, Reduced bone mineral density, Osteoporosis	ORPHA:881
Mosaic Monosomy X	Osteopenia, Reduced bone mineral density, Osteoporosis	ORPHA:99228
Monosomy X	Osteopenia, Reduced bone mineral density, Osteoporosis	ORPHA:99226
Hardikar Syndrome	Osteoporosis	OMIM:301068
Cushing Disease	Osteoporosis	ORPHA:96253
Pyruvate Carboxylase Deficiency	Hypoglycemia, Hepatomegaly, Hyperglycemia	ORPHA:3008
Loeys-Dietz Syndrome 3	Osteopenia, Hip osteoarthritis, Knee osteoarthritis, Camptodactyly, Osteoporosis, Osteoarthritis,...	OMIM:613795
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint hypermobility, Osteoporosis	ORPHA:438213
Thyrotoxic Periodic Paralysis	Rhabdomyolysis, Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology, Post...	ORPHA:79102
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Pancreatitis, Splenic cyst	OMIM:620371
Williams Syndrome	Osteopenia, Increased bone mineral density, Synostosis of joints, Osteoporosis, Joint stiffness, ...	ORPHA:904
Primrose Syndrome	Reduced bone mineral density, Osteoporosis, Generalized osteoporosis, Hip contracture, Flexion co...	OMIM:259050
17Q11 Microdeletion Syndrome	Thickened cortex of long bones, Osteoporosis, Osteolysis, Osteopenia	ORPHA:97685
Hutchinson-Gilford Progeria Syndrome	Insulin resistance	ORPHA:740
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hepatic steatosis	OMIM:619321
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Splenomegaly, Hepatic steatosis	OMIM:270400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hepatic steatosis, Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:619475
Norrie Disease	Optic atrophy, Delayed puberty, Erectile dysfunction, Retinal detachment, Remnants of the hyaloid...	ORPHA:649
Holoprosencephaly 2	Cyclopia, Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia, Remnants of the hy...	OMIM:157170
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:619127
Singleton-Merten Syndrome 1	Osteopenia, Osteolytic defects of the phalanges of the hand, Osteoporosis	OMIM:182250
Scorpion Envenomation	Acute pancreatitis, Glycosuria, Rhabdomyolysis, Hyperglycemia, Elevated circulating aspartate ami...	ORPHA:466677
1P36 Deletion Syndrome	Abnormality of the liver, Annular pancreas, Hepatic steatosis, Abnormality of the spleen	ORPHA:1606
Williams-Beuren Syndrome	Osteopenia, Osteoporosis, Flexion contracture, Radioulnar synostosis, Joint hypermobility	OMIM:194050
Ogden Syndrome	Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis	OMIM:300855
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Portal hypertension...	ORPHA:797
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Macroglossia, Hyperglycemia	ORPHA:444077
Cushing Syndrome Due To Ectopic Acth Secretion	Osteoporosis	ORPHA:99889
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Microvesicular hepatic steatosis, Hyperglycemia, Left ventricular hypertrophy, Hypoglycemia, Incr...	OMIM:220111
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hepatosplenomegaly, Hepatic steatosis, Cholestasis, Portal hypertension	OMIM:619503
Alström Syndrome	Cirrhosis, Hyperinsulinemia, Abnormal liver physiology, Elevated circulating hepatic transaminase...	ORPHA:64
Digeorge Syndrome	Hepatic steatosis, Splenomegaly, Cholelithiasis	OMIM:188400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated circulating hepatic transaminase concentration, Hyperglycemia	ORPHA:293987
Neuroocular Syndrome	Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Pmm2-Cdg	Abnormal liver parenchyma morphology, Hyperinsulinemia, Elevated circulating hepatic transaminase...	ORPHA:79318
Wiedemann-Rautenstrauch Syndrome	Hepatic steatosis	ORPHA:3455
Homozygous Familial Hypercholesterolemia	Hepatic steatosis	ORPHA:391665
Barrett Esophagus		OMIM:614266

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cthrc1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cthrc1.

No publications found that use IMPC mice or data for Cthrc1.

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MGI Allele	Allele Type	Produced
Cthrc1^{tm102929(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cthrc1^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cthrc1 MGI:1915838

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Cthrc1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data