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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
small liver	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	0.00
persistence of hyaloid vascular system	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	2.48×10^-05
small testis	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Cthrc1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	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 (618 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	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, 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
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	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	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	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	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Cortisone Reductase Deficiency 2	Insulin resistance	OMIM:614662
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Winchester Syndrome	Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis	OMIM:277950
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, 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	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis	ORPHA:53697
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis	OMIM:228600
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis	OMIM:620357
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis	OMIM:618400
Forsythe-Wakeling Syndrome	Osteoporosis	OMIM:613606
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Isolated Glycerol Kinase Deficiency	Osteoporosis	ORPHA:408
Lipodystrophy, Familial Partial, Type 4	Skeletal muscle hypertrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic ste...	OMIM:613877
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function	OMIM:616829
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Hepatic steatosis, Type II diabetes mellitus	OMIM:615703
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Obesity And Hypopigmentation	Hepatic steatosis	OMIM:620195
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Acquired Partial Lipodystrophy	Myopathy, Insulin resistance, Hepatic steatosis	ORPHA:79087
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia	OMIM:615266
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st...	OMIM:612526
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content	OMIM:232700
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Diabetes mellitus, Lower limb muscle weakness, Insulin resistance, Myopa...	OMIM:615980
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatic steatosis, Increased muscle lipid content, Hepatomegaly	OMIM:610717
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Hypercholanemia, Familial, 2	Osteopenia	OMIM:619256
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency	OMIM:609812
Mu-Heavy Chain Disease	Osteoporosis, Osteolysis	ORPHA:100024
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:614880
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis	ORPHA:71267
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Insulin resistance	ORPHA:90301
Gracile Syndrome	Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration	ORPHA:53693
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Osteoporosis	OMIM:616033
Rotor Syndrome	Jaundice, Storage in hepatocytes, Intermittent jaundice	ORPHA:3111
Hyperzincemia With Functional Zinc Depletion	Osteoporosis	OMIM:601979
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures	OMIM:126550
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Familial Renal Glucosuria	Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria	ORPHA:69076
Rothmund-Thomson Syndrome, Type 1	Osteoporosis	OMIM:618625
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Epiphyseal stippling, Coarse metaphyseal trabecularization, Abnormal bone ossification	ORPHA:1952
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Juvenile Paget Disease	Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization	ORPHA:2801
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis	ORPHA:2958
Akt2-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis, Hepatomegaly	ORPHA:79085
Bruck Syndrome 1	Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture...	OMIM:259450
Thrombocytopenia 6	Myelofibrosis, Osteoporosis	OMIM:616937
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia	OMIM:617885
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Flexion contracture	OMIM:618856
Prieto Syndrome	Osteoporosis	OMIM:309610
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:617974
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Congenital Bile Acid Synthesis Defect Type 1	Osteoporosis	ORPHA:79301
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Osteoporosis	OMIM:614727
Analbuminemia	Osteoporosis	OMIM:616000
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Peroxisomal Acyl-Coa Oxidase Deficiency	Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati...	OMIM:264470
Bruck Syndrome	Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness	ORPHA:2771
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis	OMIM:618234
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele...	OMIM:619048
Hemochromatosis, Type 4	Hepatomegaly, Hepatic steatosis, Cirrhosis	OMIM:606069
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Maternal diabetes, Splenomegaly, ...	ORPHA:79083
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hepatic failure, Hepatic steatosis	OMIM:617872
Perrault Syndrome 1	Osteoporosis	OMIM:233400
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Lipe-Related Familial Partial Lipodystrophy	Proximal muscle weakness in upper limbs, Hepatomegaly, Insulin-resistant diabetes mellitus, Insul...	ORPHA:435660
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis	ORPHA:79230
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Osteoporosis	OMIM:614838
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Osteoporosis	ORPHA:319195
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content	OMIM:261750
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis	ORPHA:280356
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Pan...	OMIM:618805
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis	OMIM:608709
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Insulin resistance, Hyperinsulinemia, Myopathy, Cirrhosis, Hepatic steatosis	ORPHA:363400
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:615438
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Generalized osteoporosis	OMIM:613849
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Insulin resistance, Elevated circ...	OMIM:615381
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
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	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hyperglycemia	OMIM:608600
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Osteoporosis, Camptodactyly of finger	ORPHA:48431
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis	ORPHA:26792
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Osteoporosis, Camptodactyly	OMIM:616006
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, Oste...	ORPHA:2848
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures	ORPHA:2788
Sialidosis Type 2	Flexion contracture, Osteoporosis	ORPHA:87876
Mycetoma	Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab...	ORPHA:2583
Warburg Micro Syndrome 1	Osteoporosis, Joint hypermobility	OMIM:600118
Pseudopseudohypoparathyroidism	Osteoporosis	OMIM:612463
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:618392
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma...	ORPHA:552
Placental Insufficiency	Insulin resistance	ORPHA:439167
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Abnormality of skeletal muscle...	ORPHA:2348
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Hall-Riggs Syndrome	Osteoporosis	OMIM:234250
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele...	OMIM:614582
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:600649
Cranioectodermal Dysplasia	Joint hyperflexibility, Osteoporosis, Craniosynostosis	ORPHA:1515
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones	ORPHA:93351
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:201450
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness	ORPHA:66627
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele...	OMIM:619386
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ...	OMIM:208230
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Skeletal muscle hypertroph...	ORPHA:528
Hutchinson-Gilford Progeria Syndrome	Osteolysis, Generalized osteoporosis	OMIM:176670
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo...	OMIM:261680
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex	OMIM:617952
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis	ORPHA:99879
Hyperparathyroidism 4	Osteopenia	OMIM:617343
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis	ORPHA:77296
Indolent Systemic Mastocytosis	Osteoporosis	ORPHA:98848
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Recurrent fractures, Joint hypermobility	OMIM:619131
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Cam...	OMIM:214150
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp...	OMIM:235200
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate...	OMIM:617253
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Osteoporosis, Recurrent fractures, Flexion contracture of toe	ORPHA:3409
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera...	ORPHA:85435
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Elevated hepatic transaminase, Glycosuria	ORPHA:2089
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density	OMIM:619489
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Insulin-resistant diabetes melli...	ORPHA:79086
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis	OMIM:615830
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Proximal amyotrophy	OMIM:604484
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis	OMIM:231530
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Abnorma...	ORPHA:79303
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Insulin-Resistance Syndrome Type B	Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem...	ORPHA:2298
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i...	ORPHA:371428
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Bardet-Biedl Syndrome 19	Hepatic steatosis	OMIM:615996
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Ddost-Cdg	Elevated hepatic transaminase, Hepatic steatosis	ORPHA:300536
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility	ORPHA:1901
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis	ORPHA:210548
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2235
Rhyns Syndrome	Osteopenia, Osteoporosis	OMIM:602152
Menkes Disease	Joint laxity, Osteoporosis	OMIM:309400
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:435651
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Centrally nucleated skeletal muscle fibers, Splenome...	OMIM:613327
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Osteoporosis	OMIM:219080
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:212140
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Spondylo-Ocular Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:85194
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Osteoporosis	OMIM:610475
Adrenomyodystrophy	Hepatic steatosis	ORPHA:977
Coxoauricular Syndrome	Reduced bone mineral density	ORPHA:1508
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th...	OMIM:259100
Mandibuloacral Dysplasia	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, C...	ORPHA:2457
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly	OMIM:619013
Classic Galactosemia	Osteoporosis, Reduced bone mineral density	ORPHA:79239
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Osteoporosis, Joint hypermobility, Bicoronal synostosis	OMIM:619718
Amish Lethal Microcephaly	Decreased skull ossification, Osteoporosis, Limitation of joint mobility	ORPHA:99742
Peroxisome Biogenesis Disorder 3B	Osteoporosis	OMIM:266510
Osteogenesis Imperfecta, Type Xxii	Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density	OMIM:619795
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia	ORPHA:73272
Geroderma Osteodysplastica	Joint hyperflexibility, Osteoporosis, Recurrent fractures, Abnormal bone ossification	ORPHA:2078
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Decreased liver function	ORPHA:70472
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis	OMIM:201475
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Limitation of joint mobility, Osteoporosis, Generalized osteoporosis	OMIM:236200
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	ORPHA:369840
Odontochondrodysplasia 1	Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility	OMIM:184260
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Osteoporosis, Recurrent fractures, Reduced bone mineral density	OMIM:616507
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Osteoporosis	ORPHA:785
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis	ORPHA:199354
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Cholestasis, Port...	OMIM:614300
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch...	ORPHA:101330
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Decreased liver function	ORPHA:42
Perrault Syndrome 4	Osteoporosis	OMIM:615300
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased...	OMIM:231070
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis	OMIM:239000
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Increased intramyocellular lipid droplets, Abnormal muscle fiber morp...	ORPHA:681
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density	OMIM:620232
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Cervical C2/C3 vertebral fusi...	OMIM:618000
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis	ORPHA:228305
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Decreased calv...	OMIM:259420
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Shoulder flexion contracture, Osteoporosis, Joint contracture of the hand, Wrist...	OMIM:255800
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st...	OMIM:615710
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:600081
Niemann-Pick Disease, Type A	Osteoporosis	OMIM:257200
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
Fanconi-Bickel Syndrome	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino...	ORPHA:2088
Hypophosphatemic Rickets, X-Linked Recessive	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Cantu Syndrome	Osteoporosis	OMIM:239850
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Osteoporosis	OMIM:616200
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Sickle Cell Anemia	Osteomyelitis, Osteoporosis	ORPHA:232
Chylomicron Retention Disease	Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis	ORPHA:71
Pseudohypoparathyroidism, Type Ia	Subcutaneous ossification, Osteoporosis	OMIM:103580
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology	ORPHA:1332
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Cole Disease	Hyperglycemia	OMIM:615522
Immunodeficiency 12	Osteoporosis	OMIM:615468
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:610198
Desbuquois Dysplasia 1	Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa...	OMIM:251450
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Cirrhosis	OMIM:613987
Spondyloepiphyseal Dysplasia Tarda	Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter...	ORPHA:93284
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density	ORPHA:1399
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:605814
19P13.3 Microduplication Syndrome	Osteoporosis	ORPHA:447980
Pontocerebellar Hypoplasia, Type 2E	Flexion contracture, Osteoporosis	OMIM:615851
Wolfram Syndrome 1	Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Optic atrophy, Pigmentary...	OMIM:222300
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Osteoporosis	OMIM:610489
Werner Syndrome	Osteoporosis, Reduced bone mineral density	OMIM:277700
Donohue Syndrome	Skeletal muscle atrophy, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell h...	OMIM:246200
Xp21 Deletion Syndrome	Joint laxity, Osteoporosis, Reduced bone mineral density	ORPHA:261476
Propionic Acidemia	Osteoporosis	OMIM:606054
Aggressive Systemic Mastocytosis	Pathologic fracture, Osteoporosis, Osteolysis	ORPHA:98850
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Proximal upper limb muscle hyp...	ORPHA:280365
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture	OMIM:614438
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular at...	ORPHA:465508
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure...	ORPHA:541423
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Hyperglycemia, Joint contracture of the hand, Abnormal muscle fiber morphology	OMIM:175700
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice...	OMIM:617093
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Short Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:3163
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Beta-Thalassemia Intermedia	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Reduced bone mineral density	ORPHA:231222
Lowry-Maclean Syndrome	Osteopenia, Osteoporosis, Craniosynostosis	ORPHA:2409
Pseudohypoparathyroidism, Type Ic	Osteoporosis	OMIM:612462
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Osteoporosis, Lambdoidal craniosynostosis	OMIM:615398
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased sarcoplasmic glycogen, Splenomegaly, Hepat...	ORPHA:264580
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Familial Multiple Lipomatosis	Insulin resistance	ORPHA:199276
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph...	OMIM:241530
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo...	OMIM:614008
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami...	OMIM:300972
Diamond-Blackfan Anemia 7	Osteopenia, Osteoporosis	OMIM:612562
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:212138
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Osteoporosis	OMIM:617190
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis	ORPHA:79322
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Reduced bone mineral density...	ORPHA:94068
Methylcobalamin Deficiency Type Cble	Osteoporosis	ORPHA:2169
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia, Decreased muscle mass	ORPHA:813
Congenital Myopathy 22A, Classic	Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contractures	OMIM:620351
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure	OMIM:611126
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Lower limb muscle weakness	OMIM:619737
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Functioning Gonadotropic Adenoma	Osteopenia, Osteoporosis	ORPHA:91348
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Pachydermoperiostosis	Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, Abnormal cortic...	ORPHA:2796
Monosomy 13Q34	Insulin resistance, Hepatic steatosis	ORPHA:96168
Whipple Disease	Splenomegaly, Hepatomegaly, Insulin resistance, Myositis	ORPHA:3452
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Hyperglycemia, Hypoglycemia, Elevated hepatic transaminase	OMIM:615453
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Osteoporosis, Camptodactyly	ORPHA:432
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Osteoporosis	ORPHA:2326
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis	ORPHA:52430
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Refractory Celiac Disease	Osteoporosis	ORPHA:398063
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Increased intramyocellular l...	ORPHA:98907
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Osteoporosis, Ivory epiphyses of the phalanges of the hand, Irregular tarsal ossification	OMIM:226980
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Progressive Pseudorheumatoid Arthropathy Of Childhood	Limitation of joint mobility, Abnormality of hand joint mobility, Camptodactyly, Joint contractur...	ORPHA:1159
Werner Syndrome	Skeletal muscle atrophy, Insulin resistance, Type II diabetes mellitus	ORPHA:902
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Recurrent fractures, Joint hypermobility, Reduced bone mineral density	OMIM:619115
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ...	OMIM:120200
Macs Syndrome	Joint laxity, Osteoporosis, Joint hypermobility	OMIM:613075
Dent Disease 1	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility	ORPHA:363705
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Cirrhosis	ORPHA:298
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice	OMIM:231680
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ...	ORPHA:247585
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Insulin resistance	ORPHA:90154
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ...	OMIM:112240
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis	OMIM:210200
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus	OMIM:615812
Brittle Cornea Syndrome	Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures	ORPHA:90354
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:264700
Dyskeratosis Congenita, Autosomal Recessive 1	Osteoporosis	OMIM:224230
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Recurrent fractures, Craniosynostosis, Joint hypermobility, Osteoporosis, Elbow flexi...	OMIM:245600
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ...	ORPHA:3206
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:277440
Isolated Sedoheptulokinase Deficiency	Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li...	ORPHA:440713
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening	OMIM:617994
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Skeletal...	OMIM:151660
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine...	OMIM:260370
Pituitary Adenoma 4, Acth-Secreting	Osteoporosis	OMIM:219090
X Small Rings	Joint laxity, Osteoporosis, Reduced bone mineral density	ORPHA:96201
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Diabetes mellitus	OMIM:616541
Mucopolysaccharidosis, Type Ivb	Joint laxity, Osteoporosis, Joint stiffness	OMIM:253010
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona...	OMIM:619377
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Elbow flexion contractur...	ORPHA:1900
Mucopolysaccharidosis, Type Iva	Joint laxity, Osteoporosis	OMIM:253000
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Dyskeratosis Congenita, Autosomal Dominant 2	Osteoporosis	OMIM:613989
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr...	OMIM:619418
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets	OMIM:212750
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex	OMIM:309583
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Flexion contracture	ORPHA:90153
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density	ORPHA:157215
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Pathologic fracture, Osteoporosis, Increased susceptibility to fractures	OMIM:612199
Aromatase Deficiency	Osteopenia, Delayed epiphyseal ossification, Osteoporosis	ORPHA:91
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Hepatic steatosis, Elevated hepatic transaminase	ORPHA:99901
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hepatic steatosis	ORPHA:412
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Dyskeratosis Congenita, Autosomal Dominant 3	Osteoporosis	OMIM:613990
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
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, Hepatomegaly, Hepatic steatosis	ORPHA:348
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen...	OMIM:619487
Cleidocranial Dysplasia	Decreased skull ossification, Osteoporosis, Recurrent fractures	ORPHA:1452
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemia, Glucose intolerance, ...	OMIM:608612
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Multiple joint contractures, Generalized osteoporosis	ORPHA:2959
Bardet-Biedl Syndrome 1	Diabetes mellitus, Insulin resistance, Biliary tract abnormality, Hepatic fibrosis, Left ventricu...	OMIM:209900
Farber Disease	Arthritis, Flexion contracture, Osteoporosis	ORPHA:333
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Osteoporosis	ORPHA:398079
Cantú Syndrome	Osteoporosis	ORPHA:1517
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis...	OMIM:617156
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated hepatic transaminase	ORPHA:71212
Familial Chylomicronemia Syndrome	Acute pancreatitis, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepatic steatosis	ORPHA:444490
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Decreased muscle mass, Fasting hypoglycemia	ORPHA:96182
Glycogen Storage Disease Ia	Osteoporosis, Gout	OMIM:232200
Cerebrotendinous Xanthomatosis	Osteoporosis	OMIM:213700
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis	ORPHA:445038
Premature Aging Syndrome, Penttinen Type	Recurrent fractures, Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Joint ...	OMIM:601812
Osteogenesis Imperfecta, Type Iv	Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract...	OMIM:166220
Stuve-Wiedemann Syndrome 1	Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac...	OMIM:601559
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hepatic steatosis	OMIM:203800
Leprechaunism	Hepatomegaly, Skeletal muscle atrophy, Insulin resistance, Hyperinsulinemia, Recurrent infantile ...	ORPHA:508
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Osteoporosis	ORPHA:79240
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ...	OMIM:259770
Necrotizing Enterocolitis	Hyperglycemia, Peritonitis, Abnormal glucose homeostasis	ORPHA:391673
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:608836
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Osteoporosis, Increased susceptibility to fractures	ORPHA:189427
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function	ORPHA:436271
Prolactinoma	Osteopenia, Osteoporosis	ORPHA:2965
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Osteoporosis	ORPHA:398069
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Osteoporosis, Rad...	ORPHA:536467
19P13.12 Microdeletion Syndrome	Hepatic steatosis	ORPHA:254346
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis	OMIM:616672
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas...	OMIM:618329
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan...	ORPHA:98908
Systemic Mastocytosis With Associated Hematologic Neoplasm	Osteoporosis, Increased susceptibility to fractures	ORPHA:98849
Glycogen Storage Disease Ib	Osteoporosis, Gout	OMIM:232220
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Flexio...	OMIM:248370
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Osteopetrosis	OMIM:612301
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperglycemia, Pancreatic hypoplasia, Pancr...	OMIM:609069
Dyskeratosis Congenita, Autosomal Dominant 1	Osteoporosis	OMIM:127550
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal...	OMIM:261515
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf...	OMIM:616263
Glass Syndrome	Generalized osteoporosis, Camptodactyly	OMIM:612313
Classic Homocystinuria	Osteoporosis, Recurrent fractures, Joint stiffness	ORPHA:394
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Osteoporosis, Osteolytic defects of the phalanges of the hand, Foot acr...	OMIM:102500
Prader-Willi Syndrome	Osteopenia, Osteoporosis, Increased susceptibility to fractures	ORPHA:739
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Osteoporosis	ORPHA:98754
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:277900
Hajdu-Cheney Syndrome	Osteopenia, Recurrent fractures, Osteoporosis, Osteolysis, Joint hyperflexibility, Decreased skul...	ORPHA:955
Dominant Beta-Thalassemia	Osteoporosis	ORPHA:231226
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis	ORPHA:2232
Prader-Willi Syndrome	Osteopenia, Osteoporosis	OMIM:176270
Frank-Ter Haar Syndrome	Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly	OMIM:249420
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Osteoporosis	ORPHA:98793
Dend Syndrome	Hyperglycemia	ORPHA:79134
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Osteoporosis	ORPHA:177904
Schwartz-Jampel Syndrome	Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Shoulder flexion ...	ORPHA:800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Osteoporosis	ORPHA:177901
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr...	ORPHA:93111
Primary Biliary Cholangitis	Osteoporosis	ORPHA:186
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o...	ORPHA:198
Glycerol Kinase Deficiency	Pathologic fracture, Osteoporosis	OMIM:307030
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Rhabdomyolysis, Glucose intolera...	ORPHA:358
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hepatic failure, Hepatic steatosis, Hepatic calcification	ORPHA:228308
Mitochondrial Trifunctional Protein Deficiency	Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis	ORPHA:746
Lesch-Nyhan Syndrome	Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria	OMIM:300322
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly	OMIM:212065
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Increased intram...	OMIM:220110
Tbck-Related Intellectual Disability Syndrome	Osteoporosis	ORPHA:488632
Dent Disease	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Skeletal muscle atrophy, Diabetes mellitus, Weakness of facial mus...	ORPHA:273
Hepatoerythropoietic Porphyria	Osteopenia, Osteoporosis, Osteolysis	ORPHA:95159
Bloom Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:125
3-Methylglutaconic Aciduria, Type Viib	Hepatic steatosis	OMIM:616271
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Osteoporosis, Joint laxity	OMIM:225400
Dyskeratosis Congenita	Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization	ORPHA:1775
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis	ORPHA:66634
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Lower-limb joint contracture, Glycosuria, Arthrogry...	ORPHA:99885
Menkes Disease	Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Joint hyperflexibility	ORPHA:565
Occipital Horn Syndrome	Joint laxity, Capitate-hamate fusion, Osteoporosis, Limited knee extension, Limited elbow extension	OMIM:304150
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hyperglycemia	ORPHA:90065
Beta-Thalassemia Major	Osteoporosis	ORPHA:231214
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:615356
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis...	OMIM:271640
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:617303
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperglycemia, Hypoglycemia	ORPHA:134
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Ragge...	OMIM:124000
Fanconi-Bickel Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:227810
X-Linked Intellectual Disability, Snyder Type	Osteoporosis, Recurrent fractures, Camptodactyly	ORPHA:3063
Lysinuric Protein Intolerance	Osteoporosis, Recurrent fractures	OMIM:222700
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic...	OMIM:608594
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:168558
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Joint hypermobility, Sagittal craniosynostosis, Generali...	ORPHA:536471
Diaphanospondylodysostosis	Abnormal liver lobulation	OMIM:608022
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Hepatic steatosis	OMIM:229600
Autosomal Dominant Progressive External Ophthalmoplegia	Osteoporosis	ORPHA:254892
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:289548
Lathosterolosis	Pathologic fracture, Osteoporosis	OMIM:607330
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:203700
Rothmund-Thomson Syndrome	Osteopenia, Increased susceptibility to fractures, Abnormal trabecular bone morphology, Reduced b...	ORPHA:2909
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Osteoporosis, Gout, Increased susceptibility to fractures	ORPHA:79259
Lipodystrophy, Familial Partial, Type 7	Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurrent pancreatitis, Type...	OMIM:606721
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ...	ORPHA:20
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Hepatic s...	ORPHA:247598
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Osteoporosis, Joint hypermobility	ORPHA:536545
Osteogenesis Imperfecta	Osteopenia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion contracture...	ORPHA:666
Rothmund-Thomson Syndrome, Type 2	Osteoporosis	OMIM:268400
Arima Syndrome	Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:243910
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	ORPHA:14
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic...	OMIM:269700
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa...	ORPHA:275761
Cerebrotendinous Xanthomatosis	Osteopenia, Osteoporosis, Increased susceptibility to fractures	ORPHA:909
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Limited elbow movement, Osteoporosis, Joint hypermobility	ORPHA:558
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets	ORPHA:2636
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:90796
Cystic Fibrosis	Osteopenia, Osteoporosis	ORPHA:586
Cranioectodermal Dysplasia 1	Joint laxity, Osteoporosis, Sagittal craniosynostosis	OMIM:218330
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Increased intramyocellular lipid ...	ORPHA:17
Congenital Disorder Of Deglycosylation 1	Osteoporosis	OMIM:615273
Primary Sclerosing Cholangitis	Osteopenia, Osteoporosis	ORPHA:171
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis	ORPHA:99880
Cockayne Syndrome B	Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the hand	OMIM:133540
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Macronodular cirr...	ORPHA:699
Acromelic Frontonasal Dysostosis	Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Parathyroid Carcinoma	Osteoporosis	ORPHA:143
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Finger symphalangism, Synostosis involving bones...	ORPHA:221016
Glycogen Storage Disease Due To Acid Maltase Deficiency	Flexion contracture, Osteoporosis	ORPHA:365
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi...	ORPHA:79474
Congenital Erythropoietic Porphyria	Osteopenia, Osteoporosis, Osteolysis	ORPHA:79277
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619573
Tsh-Secreting Pituitary Adenoma	Osteopenia, Osteoporosis	ORPHA:91347
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas...	OMIM:613658
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Dpagt1-Cdg	Flexion contracture, Osteoporosis, Camptodactyly	ORPHA:86309
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Finger symphalangism	ORPHA:221008
Lysinuric Protein Intolerance	Osteopenia, Pathologic fracture, Osteoporosis	ORPHA:470
Mosaic Trisomy 9	Asplenia, Abnormal liver lobulation	ORPHA:99776
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis	OMIM:618278
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis	OMIM:619934
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno...	ORPHA:284984
Bloom Syndrome	Hepatic steatosis	OMIM:210900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Generalized osteoporosis	ORPHA:391487
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe generalized osteoporosis, Knee flexion contracture	OMIM:210730
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Wolf-Hirschhorn Syndrome	Osteoporosis	ORPHA:280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Liver Disease, Severe Congenital	Elevated hepatic transaminase, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaund...	OMIM:619991
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Pathologic fracture, Osteoporosis	ORPHA:77293
Aicardi-Goutieres Syndrome 7	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatitis	OMIM:615846
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg...	ORPHA:404454
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary atresia, Aplasia ...	OMIM:600001
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Flexion contracture, Osteoporosis, Foot joint contracture	ORPHA:79408
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Remnants of the hyaloid vascular system, Protein...	OMIM:609049
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Lower-limb joint contracture, Osteoporosis	ORPHA:459070
46,Xy Partial Gonadal Dysgenesis	Osteoporosis	ORPHA:251510
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentration	OMIM:300868
Dyskeratosis Congenita, X-Linked	Osteoporosis	OMIM:305000
Severe Generalized Junctional Epidermolysis Bullosa	Osteoporosis	ORPHA:79404
Loeys-Dietz Syndrome 2	Joint laxity, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contracture of the hand	OMIM:610168
Hardikar Syndrome	Osteoporosis	OMIM:301068
Cushing Disease	Osteoporosis	ORPHA:96253
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Osteoporosis, Reduced bone mineral density	ORPHA:99413
Turner Syndrome	Osteopenia, Osteoporosis, Reduced bone mineral density	ORPHA:881
Mosaic Monosomy X	Osteopenia, Osteoporosis, Reduced bone mineral density	ORPHA:99228
Monosomy X	Osteopenia, Osteoporosis, Reduced bone mineral density	ORPHA:99226
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hyperglycemia, Hypoglycemia	ORPHA:3008
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent...	OMIM:620185
17Q11 Microdeletion Syndrome	Osteopenia, Thickened cortex of long bones, Osteolysis, Osteoporosis	ORPHA:97685
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Osteoporosis, Joint laxity	ORPHA:438213
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Osteoporosis, Joint hy...	ORPHA:904
Primrose Syndrome	Hip contracture, Joint hypermobility, Flexion contracture, Osteoporosis, Reduced bone mineral den...	OMIM:259050
Hutchinson-Gilford Progeria Syndrome	Insulin resistance	ORPHA:740
Microphthalmia, Syndromic 2	Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Septate vagina, Cryptor...	OMIM:300166
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Rhabdomyolysis, Increased intramyocellular lipid droplets, Post...	ORPHA:79102
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hepatic steatosis	OMIM:619321
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Splenomegaly, Cholestatic liver disease, Cirrhosis, Hepatic steatosis	OMIM:270400
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Flexion contracture, Osteoporosis, Radioulnar synostosis	OMIM:194050
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Jaundice, Hepatic steatosis	OMIM:619475
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:619127
Singleton-Merten Syndrome 1	Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand	OMIM:182250
Scorpion Envenomation	Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Rhabdomyolysis...	ORPHA:466677
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Annular pancreas	ORPHA:1606
Ogden Syndrome	Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis	OMIM:300855
Sarcoidosis	Hepatomegaly, Portal hypertension, Abnormal liver parenchyma morphology, Decreased liver function...	ORPHA:797
Norrie Disease	Retinal detachment, Diabetes mellitus, Remnants of the hyaloid vascular system, Cryptorchidism, O...	ORPHA:649
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Adrenal hypoplasia, Chorioretinal coloboma, Cyclopia, Di...	OMIM:157170
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	Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Left ven...	OMIM:220111
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Hepatic steatosis, Portal hypertension, Hepatosplenomegaly	OMIM:619503
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Insulin resistanc...	ORPHA:64
Digeorge Syndrome	Splenomegaly, Cholelithiasis, Hepatic steatosis	OMIM:188400
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Hyperglycemia	ORPHA:293987
Pmm2-Cdg	Elevated hepatic transaminase, Multiple joint contractures, Insulin resistance, Hyperinsulinemia,...	ORPHA:79318
Wiedemann-Rautenstrauch Syndrome	Hepatic steatosis	ORPHA:3455
Neuroocular Syndrome	Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
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 20.1 Data