Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small testis Cthrc1em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Cthrc1em1(IMPC)Mbp HOM Early adult 0.00
persistence of hyaloid vascular system Cthrc1em1(IMPC)Mbp HOM Early adult 2.74×10-05
abnormal liver morphology Cthrc1em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Cthrc1em1(IMPC)Mbp HOM Early adult 0.00
small liver Cthrc1em1(IMPC)Mbp HOM Early adult 0.00
small kidney Cthrc1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Human diseases caused by Cthrc1 mutations

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

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Osteoporosis
Osteoporosis OMIM:166710
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance 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
Immunodeficiency 12
Osteoporosis OMIM:615468
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Osteoporosis, Limitation of joint mobility ORPHA:3294
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
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
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... ORPHA:411593
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Cortisone Reductase Deficiency 2
Insulin resistance OMIM:614662
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
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Winchester Syndrome
Generalized osteoporosis, Carpal osteolysis, Osteolysis involving tarsal bones OMIM:277950
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:2787
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... ORPHA:79084
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Familial Hyperprolactinemia
Osteoporosis, Osteopenia ORPHA:397685
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Osteopenia, Mandibular osteomyelitis, Recurrent fractures ORPHA:53697
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Hyaline Fibromatosis Syndrome
Flexion contracture, Progressive flexion contractures, Osteolysis, Osteopenia, Osteoporosis 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
Gout, Osteoporosis OMIM:610947
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... OMIM:136300
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Insulin resistance, Skeletal muscle hypertrophy, Insulin-resistant diabetes me... OMIM:613877
Isolated Glycerol Kinase Deficiency
Osteoporosis ORPHA:408
Forsythe-Wakeling Syndrome
Osteoporosis OMIM:613606
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function OMIM:616829
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2410
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis OMIM:166260
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Essential Fructosuria
Hyperglycemia ORPHA:2056
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Increased susceptibility to fractures, Osteopenia, Osteoporosis OMIM:612287
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Diabetes mellitus ORPHA:181393
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Type II diabetes mellitus, Insulin resistance OMIM:615703
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... OMIM:301045
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
Acquired Partial Lipodystrophy
Hepatic steatosis, Myopathy, Insulin resistance ORPHA:79087
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
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
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Splen... OMIM:612526
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly OMIM:232700
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Increased susceptibility to fractures, Osteopenia, Osteoporosis OMIM:612286
Lipodystrophy, Familial Partial, Type 6
Lower limb muscle weakness, Muscular dystrophy, Insulin resistance, Hepatic steatosis, Diabetes m... OMIM:615980
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Elevated hepatic transaminase, Increased muscle lipid content, Hepatomegaly OMIM:610717
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... OMIM:604367
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:614880
Mu-Heavy Chain Disease
Osteolysis, Osteoporosis ORPHA:100024
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function OMIM:617093
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young OMIM:609812
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Macroglossia, Mat... ORPHA:99886
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... OMIM:603471
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Rotor Syndrome
Intermittent jaundice, Storage in hepatocytes, Jaundice ORPHA:3111
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Joint laxity OMIM:616033
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Epiphyseal stippling, Abnormal bone ossification, Coarse metaphyseal trabecularization ORPHA:1952
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Osteoporosis, Recurrent fractures OMIM:126550
Hyperzincemia With Functional Zinc Depletion
Osteoporosis OMIM:601979
Familial Renal Glucosuria
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia ORPHA:69076
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
Juvenile Paget Disease
Cranial hyperostosis, Osteoporosis, Coarse metaphyseal trabecularization, Recurrent fractures ORPHA:2801
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Insulin resistance OMIM:617885
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Thrombocytopenia 6
Osteoporosis, Myelofibrosis OMIM:616937
Bruck Syndrome 1
Knee flexion contracture, Increased susceptibility to fractures, Hip contracture, Elbow flexion c... OMIM:259450
Prieto Syndrome
Osteoporosis OMIM:309610
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Reduced bone mineral density OMIM:617974
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Insulin-resistant diabetes mellitus, Hepatomegaly ORPHA:79085
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Eiken Syndrome
Thin bony cortex, Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip mo... ORPHA:79106
African Iron Overload
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... ORPHA:139507
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Elevated hepatic transaminase ORPHA:329249
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis ORPHA:79301
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Joint laxity OMIM:614727
Analbuminemia
Osteoporosis OMIM:616000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619048
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Hemochromatosis, Type 4
Hepatic steatosis, Cirrhosis, Hepatomegaly OMIM:606069
Bruck Syndrome
Osteoporosis, Joint stiffness, Recurrent fractures, Arthrogryposis multiplex congenita ORPHA:2771
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase... OMIM:264470
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Cirrhosis, Maternal diabetes, Insulin resistance, Abnormality of skeletal muscle fi... ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Hepatomegaly OMIM:617872
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... OMIM:600785
Perrault Syndrome 1
Osteoporosis OMIM:233400
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Hemochromatosis Type 2
Osteoporosis ORPHA:79230
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Increased muscle glycogen content, Splenomegaly, Hepatomegaly OMIM:261750
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Osteopenia, Fractures of the long bones ORPHA:319195
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis OMIM:608709
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Myopathy, Hepatomegaly ORPHA:363400
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly OMIM:615438
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic... OMIM:615381
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Skeletal muscle hypertrophy, Insulin-resistant diabetes me... ORPHA:435660
Infantile Liver Failure Syndrome 3
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... OMIM:618641
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Generalized osteoporosis, Recurrent fractures, Hyperextensibility of the finger joints OMIM:613849
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hep... OMIM:618805
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Macro... ORPHA:209902
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia ORPHA:369
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly OMIM:608600
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Bardet-Biedl Syndrome 19
Hepatic steatosis OMIM:615996
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Osteoporosis OMIM:616006
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Osteoporosis ORPHA:48431
Primary Lipodystrophy
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Myopat... ORPHA:90970
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Camptodactyly of toe, Osteoarthritis of the elbow, Bone cyst, Osteoporos... ORPHA:2848
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Pseudopseudohypoparathyroidism
Osteoporosis OMIM:612463
Mycetoma
Osteomyelitis, Painless fractures due to injury, Abnormal bone structure, Bone cyst, Pathologic f... ORPHA:2583
Osteoporosis-Pseudoglioma Syndrome
Joint laxity, Increased susceptibility to fractures, Osteopenia, Osteoporosis ORPHA:2788
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility OMIM:600118
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Reduced bone mineral density OMIM:618392
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Hepatomegaly OMIM:615238
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Sialidosis Type 2
Flexion contracture, Osteoporosis ORPHA:87876
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Abnormality of skeletal muscle fiber size, Insulin resistance, Hepatic steatosis, D... ORPHA:2348
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... ORPHA:552
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:614582
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Elevated... ORPHA:64743
Hereditary Sensory And Autonomic Neuropathy Type 2
Osteolysis, Foot acroosteolysis, Abnormal cortical bone morphology, Reduced bone mineral density ORPHA:970
Glycerol Kinase Deficiency
Pathologic fracture, Osteoporosis OMIM:307030
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Osteopenia ORPHA:529665
Hall-Riggs Mental Retardation Syndrome
Osteoporosis OMIM:234250
Tenosynovial Giant Cell Tumor
Osteolysis, Joint stiffness, Localized osteoporosis, Limitation of joint mobility ORPHA:66627
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure, Mandi... ORPHA:83451
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:600649
Cranioectodermal Dysplasia
Osteoporosis, Craniosynostosis, Joint hyperflexibility ORPHA:1515
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Osteoporosis, Limitation of joint mobility, Osteoarthritis ORPHA:93351
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Peripor... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Ele... OMIM:619386
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Joint contracture of the hand, Joint stiffness, Osteoporosis, Osteoarthr... OMIM:208230
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Cirrhosis, Insulin resistance, Macroglossia, Hepatic steatosis, Diabetes mellit... ORPHA:528
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Increased susceptibility to fractures, Recurrent fractures OMIM:615066
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Placental Insufficiency
Insulin resistance ORPHA:439167
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Increased hepatic e... OMIM:261680
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia ORPHA:99879
Hyperparathyroidism 4
Osteopenia OMIM:617343
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Indolent Systemic Mastocytosis
Osteoporosis ORPHA:98848
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:201450
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Recurrent fractures, Joint hypermobility OMIM:619131
Osteogenesis Imperfecta, Type Xvii
Osteoporosis OMIM:616507
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Osteopenia, Reduced bone minera... ORPHA:85435
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... ORPHA:567983
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Elbow flexion contr... OMIM:214150
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Myopathy,... ORPHA:79086
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Postprandial hyperglycemia, Elevated hepatic transaminase, Ketotic hypoglycemia ORPHA:2089
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Osteoporosis, Recurrent fractures, Flexion contracture of toe ORPHA:3409
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Recurrent fractures, Joint laxity, Joint hypermobility, Generalized osteoporosis OMIM:617952
Seckel Syndrome 10
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... OMIM:617253
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density OMIM:619489
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia OMIM:615830
Wilson Disease
Cirrhosis, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, A... ORPHA:905
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Osteoporosis, Osteoarthritis ORPHA:77296
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Proximal amyotrophy OMIM:604484
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... OMIM:613027
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva... OMIM:255120
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure OMIM:231530
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Hemochromatosis, Type 1
Cirrhosis, Impotence, Elevated hepatic transaminase, Hepatocellular carcinoma, Azoospermia, Testi... OMIM:235200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Osteoporosis OMIM:560000
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis OMIM:615954
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Giant cell hepatitis... ORPHA:79303
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoacidosis, Type II diabete... ORPHA:2298
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Reduced bone mineral density ORPHA:262
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615595
Osteogenesis Imperfecta, Type Xiii
Recurrent fractures, Increased bone mineral density, Joint hypermobility, Limitation of knee mobi... OMIM:614856
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Liver Failure, Infantile, Transient
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... OMIM:613070
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Increased susceptibility to fractures, Arthritis, Osteolysis involving bones of the upper limbs, ... ORPHA:371428
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Ddost-Cdg
Hepatic steatosis, Elevated hepatic transaminase ORPHA:300536
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2235
Rhyns Syndrome
Osteoporosis, Osteopenia OMIM:602152
Menkes Disease
Osteoporosis, Joint laxity OMIM:309400
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Dermatosparaxis Ehlers-Danlos Syndrome
Osteomalacia, Rickets, Joint hyperflexibility, Osteopenia, Joint stiffness, Osteoporosis ORPHA:1901
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Spondylo-Ocular Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:85194
Mandibuloacral Dysplasia
Hyperinsulinemia, Contractures of the large joints, Insulin resistance, Insulin-resistant diabete... ORPHA:2457
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Elevated hepatic transaminase, Hepatosplenomegaly OMIM:619013
Infantile Systemic Hyalinosis
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... ORPHA:2176
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteolytic defects of the phalanges of the hand, Arthritis, Limitation of joint mobility, Osteope... OMIM:259100
Lipodystrophy, Congenital Generalized, Type 4
Increased variability in muscle fiber diameter, Hyperinsulinemia, Flexion contracture, Centrally ... OMIM:613327
Coxoauricular Syndrome
Reduced bone mineral density ORPHA:1508
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance ORPHA:73272
Amish Lethal Microcephaly
Osteoporosis, Decreased skull ossification, Limitation of joint mobility ORPHA:99742
Carnitine Deficiency, Systemic Primary
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Re... OMIM:212140
Osteogenesis Imperfecta, Type Xxii
Thin bony cortex, Multiple prenatal fractures, Recurrent fractures, Reduced bone mineral density OMIM:619795
Peroxisome Biogenesis Disorder 3B
Osteoporosis OMIM:266510
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Osteopenia OMIM:610475
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:435651
Geroderma Osteodysplastica
Joint hyperflexibility, Abnormal bone ossification, Recurrent fractures, Osteoporosis ORPHA:2078
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Cholestasis, Port... OMIM:614300
Short Syndrome
Hyperglycemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Classic Galactosemia
Osteoporosis, Reduced bone mineral density ORPHA:79239
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteoporosis, Joint hypermobility, Osteopenia, Bicoronal synostosis OMIM:619718
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Localized osteoporosis ORPHA:199354
Odontochondrodysplasia 1
Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility OMIM:184260
Porphyria Cutanea Tarda
Periportal fibrosis, Hepatic lobular inflammation, Elevated hepatic transaminase, Hepatocellular ... ORPHA:101330
Estrogen Resistance Syndrome
Osteoporosis, Osteopenia, Delayed epiphyseal ossification ORPHA:785
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Hepatocellular necrosis, Periportal fibrosis, Hepatomegaly OMIM:201475
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:369840
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Osteoporosis, Limitation of joint mobility OMIM:236200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus ORPHA:231736
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Postprandial hyperglycemia, Increased intramyocellular lipid dr... ORPHA:681
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Increased bone mineral density, Ankylosis, Osteopenia, Osteoporosis OMIM:239000
Perrault Syndrome 4
Osteoporosis OMIM:615300
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, Hepatomegaly ORPHA:228305
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... ORPHA:370
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function, Hepatomegaly ORPHA:42
Ehlers-Danlos Syndrome, Classic-Like, 2
Generalized joint laxity, Joint hypermobility, Osteoporosis, Osteopenia, Cervical C2/C3 vertebral... OMIM:618000
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... OMIM:600081
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... OMIM:615710
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Osteogenesis Imperfecta, Type Iii
Bowing of limbs due to multiple fractures, Recurrent fractures, Severe generalized osteoporosis, ... OMIM:259420
Geroderma Osteodysplasticum
Increased susceptibility to fractures, Recurrent fractures, Hyperextensibility of the finger join... OMIM:231070
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Hypophospha... OMIM:300554
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Osteoporosis OMIM:616200
Niemann-Pick Disease, Type A
Osteoporosis OMIM:257200
Cantu Syndrome
Osteoporosis OMIM:239850
Schwartz-Jampel Syndrome, Type 1
Wrist flexion contracture, Hip contracture, Joint contracture of the hand, Shoulder flexion contr... OMIM:255800
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Multicentric Osteolysis, Nodulosis, And Arthropathy
Wrist flexion contracture, Thin bony cortex, Hip contracture, Metatarsal osteolysis, Camptodactyl... OMIM:259600
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase ORPHA:71
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Subcutaneous ossification OMIM:103580
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Sickle Cell Anemia
Osteomyelitis, Osteoporosis ORPHA:232
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Elevated hepat... ORPHA:2137
Interstitial Lung And Liver Disease
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Hepatic... OMIM:615486
Desbuquois Dysplasia 1
Advanced ossification of carpal bones, Joint laxity, Advanced tarsal ossification, Osteoporosis, ... OMIM:251450
3-Methylglutaconic Aciduria, Type V
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:610198
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ci... OMIM:605814
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr... ORPHA:93284
Donohue Syndrome
Hepatic fibrosis, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, Skeletal muscle atro... OMIM:246200
Pontocerebellar Hypoplasia, Type 2E
Flexion contracture, Osteoporosis OMIM:615851
Cole Disease
Hyperglycemia OMIM:615522
Immunodeficiency 40
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:616433
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Optic atrophy, Neurogenic bladder, Hydroureter, Testicular at... OMIM:222300
Richards-Rundle Syndrome
Joint stiffness, Reduced bone mineral density ORPHA:1399
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Insulin resistance, Proximal upper limb muscle hypertrophy, Hepatic steatosis, Diab... ORPHA:280365
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Erectile dy... ORPHA:465508
Xp21 Deletion Syndrome
Osteoporosis, Joint laxity, Reduced bone mineral density ORPHA:261476
19P13.3 Microduplication Syndrome
Osteoporosis ORPHA:447980
Aggressive Systemic Mastocytosis
Osteolysis, Pathologic fracture, Osteoporosis ORPHA:98850
Propionic Acidemia
Osteoporosis OMIM:606054
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly OMIM:614922
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteoporosis, Osteopenia OMIM:610489
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Werner Syndrome
Osteoporosis, Reduced bone mineral density OMIM:277700
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Diabetic ketoacidosis, Insulin resistance, Macroglossia, Postprandial... ORPHA:769
Short Syndrome
Diabetes mellitus, Insulin resistance ORPHA:3163
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis OMIM:613987
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
Beta-Thalassemia Intermedia
Osteoporosis, Increased susceptibility to fractures, Osteopenia, Reduced bone mineral density ORPHA:231222
Pseudohypoparathyroidism, Type Ic
Osteoporosis OMIM:612462
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteoporosis, Elbow flexion contracture, Flexion contracture, Osteopenia OMIM:614438
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves... OMIM:256810
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Lambdoidal craniosynostosis, Osteopenia OMIM:615398
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Hypophosphatemic rickets,... OMIM:241530
Lowry-Maclean Syndrome
Osteoporosis, Craniosynostosis, Osteopenia ORPHA:2409
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... ORPHA:541423
Immunodeficiency 47
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Elevate... OMIM:300972
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Portal fibrosis, Hepatic steatosis, C... ORPHA:264580
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:212138
Diamond-Blackfan Anemia 7
Osteoporosis, Osteopenia OMIM:612562
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Laryngotracheomalacia, Abnormally ossified vertebrae, Osteoporosis, Reduc... ORPHA:94068
Familial Multiple Lipomatosis
Insulin resistance ORPHA:199276
Silver-Russell Syndrome
Decreased muscle mass, Insulin resistance, Recurrent hypoglycemia ORPHA:813
Dpm1-Cdg
Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly ORPHA:79322
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Limited elbow movement, Osteolysis, Rib osteolysis, Osteolytic defects of th... OMIM:614008
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:611126
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Lower limb muscle weakness OMIM:619737
Shashi-Pena Syndrome
Osteoporosis, Cervical C2/C3 vertebral fusion OMIM:617190
Methylcobalamin Deficiency Type Cble
Osteoporosis ORPHA:2169
Whipple Disease
Myositis, Insulin resistance, Splenomegaly, Hepatomegaly ORPHA:3452
Congenital Disorder Of Glycosylation, Type It
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... OMIM:614921
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteoporosis, Osteomalacia ORPHA:309031
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Monosomy 13Q34
Hepatic steatosis, Insulin resistance ORPHA:96168
Pachydermoperiostosis
Osteomyelitis, Arthritis, Abnormal cortical bone morphology, Limitation of joint mobility, Osteol... ORPHA:2796
Functioning Gonadotropic Adenoma
Osteoporosis, Osteopenia ORPHA:91348
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase OMIM:615453
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Increased intramyocellular lipid droplets, Hepatic steatosis, Micr... ORPHA:98907
Kallmann Syndrome-Heart Disease Syndrome
Osteoporosis, Osteopenia ORPHA:2326
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormality of hand joint mobility, Joint contracture of the hand, Camptodactyly, Limitation of j... ORPHA:1159
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Ivory epiphyses of the phalanges of the hand, Irregular tarsal ossification OMIM:226980
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Osteoporosis, Camptodactyly, Generalized joint laxity ORPHA:432
Refractory Celiac Disease
Osteoporosis ORPHA:398063
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux, Optic nerve aplasia, Remnants of the hyaloid vascular system, Chorioretina... OMIM:120200
Macs Syndrome
Osteoporosis, Joint laxity, Joint hypermobility OMIM:613075
Nail-Patella Syndrome
Knee flexion contracture, Flexion contracture, Arthritis, Elbow flexion contracture, Proximal fin... ORPHA:2614
Dent Disease 1
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... OMIM:300009
Werner Syndrome
Skeletal muscle atrophy, Type II diabetes mellitus, Insulin resistance ORPHA:902
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Reduced bone mineral density, Recurrent fractures, Joint hypermobility OMIM:619115
Craniofaciofrontodigital Syndrome
Joint laxity, Osteopenia, Finger joint hypermobility, Osteoporosis ORPHA:363705
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Macrovesicular hepatic steatosis ORPHA:298
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Jaundice, Hepatic periportal necrosis, Hepatomegaly OMIM:231680
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Calcinosis ORPHA:90154
Citrullinemia Type Ii
Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatic steatosis, Hep... ORPHA:247585
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Neu-Laxova Syndrome
Flexion contracture, Osteomalacia, Rickets, Osteoporosis, Osteopenia, Arthrogryposis multiplex co... ORPHA:2671
Cole-Carpenter Syndrome 1
Recurrent fractures, Coronal craniosynostosis, Osteopenia, Reduced bone mineral density, Orbital ... OMIM:112240
Mastocytosis
Osteoporosis, Recurrent fractures ORPHA:98292
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... OMIM:264700
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Metacarpal periosteal thickening, Calvarial osteosclerosis OMIM:617994
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... OMIM:277440
Isolated Sedoheptulokinase Deficiency
Flexion contracture, Diastasis recti, Hepatitis, Postprandial hyperglycemia, Cholestasis, Cholest... ORPHA:440713
Brittle Cornea Syndrome
Joint hyperflexibility, Increased susceptibility to fractures, Camptodactyly, Osteoporosis ORPHA:90354
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Knee flexion contracture, Flexion contracture, Recurrent fractures, Elbo... ORPHA:3206
Dyskeratosis Congenita, Autosomal Recessive 1
Osteoporosis OMIM:224230
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Recurrent fractures, Elbow flexion contracture, Radioulnar synostosis, Joint hypermobility, Gener... OMIM:245600
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Increased intramuscular fat, Acut... OMIM:151660
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... OMIM:260370
X Small Rings
Osteoporosis, Joint laxity, Reduced bone mineral density ORPHA:96201
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Microvesicular hepatic steatosis, Portal fibrosis, Cholestasis, Prolonged neona... OMIM:619377
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Joint stiffness, Joint laxity OMIM:253010
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Insulin resistance OMIM:616541
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Increased susceptibility to fractures, Osteomalacia, Sparse bone trabeculae, Ri... ORPHA:289157
Mucopolysaccharidosis, Type Iva
Osteoporosis, Joint laxity OMIM:253000
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Generalized joint laxity, Elbow flexion contracture, Osteopenia, Joint hyperflexibility, Distal j... ORPHA:1900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Insulin resistance ORPHA:90153
Dyskeratosis Congenita, Autosomal Dominant 2
Osteoporosis OMIM:613989
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Osteomalacia, Pathologic fracture, Reduced bone mineral density ORPHA:157215
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Hepatic steatos... OMIM:619418
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis OMIM:219090
Combined Oxidative Phosphorylation Deficiency 12
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:614924
Autosomal Recessive Hypophosphatemic Rickets
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... ORPHA:289176
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thin bony cortex, Recurrent fractures, Hyperextensibility of the finger joints, Osteoporosis OMIM:309583
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase ORPHA:99901
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:348
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hepatomegaly ORPHA:412
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Aplasia/Hypoplasia of the pancreas, Hepatomegaly, Exocrine pancreatic insufficiency, Hyperechogen... ORPHA:456312
Aromatase Deficiency
Osteoporosis, Osteopenia, Delayed epiphyseal ossification ORPHA:91
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Increased susceptibility to fractures, Pathologic fracture, Osteopenia, Osteoporosis OMIM:612199
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucos... OMIM:608612
Celiac Disease, Susceptibility To, 1
Rickets, Osteoporosis OMIM:212750
Cleidocranial Dysplasia
Decreased skull ossification, Osteoporosis, Recurrent fractures ORPHA:1452
Dyskeratosis Congenita, Autosomal Dominant 3
Osteoporosis OMIM:613990
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Generalized osteoporosis, Multiple joint contractures ORPHA:2959
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis OMIM:300998
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Left ventricular hypertrophy, Insulin resistance, Biliary tract abnormality, Di... OMIM:209900
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Acute pan... OMIM:619487
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, Elevated hepatic transami... OMIM:617156
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Sim1-Related Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia ORPHA:398079
Cantú Syndrome
Osteoporosis ORPHA:1517
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatic necrosis, Acute hepatic failure, Elevated hepatic transaminase ORPHA:71212
Farber Disease
Arthritis, Flexion contracture, Osteoporosis ORPHA:333
Familial Chylomicronemia Syndrome
Recurrent pancreatitis, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Acute pancreatitis ORPHA:444490
Alstrom Syndrome
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis OMIM:203800
Glycogen Storage Disease Ia
Gout, Osteoporosis OMIM:232200
Osteogenesis Imperfecta, Type Iv
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract... OMIM:166220
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Elevated hepatic transaminase ORPHA:445038
Cerebrotendinous Xanthomatosis
Osteoporosis OMIM:213700
Premature Aging Syndrome, Penttinen Type
Recurrent fractures, Flexion contracture of finger, Osteolytic defects of the distal phalanges of... OMIM:601812
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice OMIM:228100
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Increased susceptibility to fractures, Osteoporosis ORPHA:189427
Leprechaunism
Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Postprandial hyperglycemi... ORPHA:508
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Decreased muscle mass, Insulin resistance ORPHA:96182
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Necrotizing Enterocolitis
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis ORPHA:391673
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Stuve-Wiedemann Syndrome 1
Knee flexion contracture, Elbow flexion contracture, Camptodactyly, Thickened cortex of long bone... OMIM:601559
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Recurrent fractures, Joint hypermobility, Osteopenia, Path... OMIM:259770
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva... OMIM:608836
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Osteoporosis ORPHA:79240
Prolactinoma
Osteoporosis, Osteopenia ORPHA:2965
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Diffuse hepatic steatosis, Hepatomegaly ORPHA:436271
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
19P13.12 Microdeletion Syndrome
Hepatic steatosis ORPHA:254346
Magel2-Related Prader-Willi-Like Syndrome
Osteoporosis, Flexion contracture, Osteopenia ORPHA:398069
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Recurrent fractures, Radioulnar synostosis, Joint hypermobility, Ost... ORPHA:536467
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Bile duct proliferation, Elevated hepatic transaminase, Macrovesicular ... OMIM:618329
Systemic Mastocytosis With Associated Hematologic Neoplasm
Increased susceptibility to fractures, Osteoporosis ORPHA:98849
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Flexion contracture, Impaired glucose tolerance, Calcinosis, Elbow flexion cont... OMIM:248370
Primary Pigmented Nodular Adrenocortical Disease
Increased susceptibility to fractures, Osteoporosis ORPHA:189439
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Flexion contracture, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, ... OMIM:609069
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis OMIM:127550
Glycogen Storage Disease Ib
Gout, Osteoporosis OMIM:232220
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Hepatic steatosis, Pancreatic fibrosis, Hepatomegaly, Exocrine pancreatic insuf... OMIM:616263
D-Bifunctional Protein Deficiency
Very long chain fatty acid accumulation, Elevated hepatic transaminase, Hepatic steatosis, Bile d... OMIM:261515
Neutral Lipid Storage Myopathy
Very long chain fatty acid accumulation, Chronic pancreatitis, Elevated hepatic transaminase, Inc... ORPHA:98908
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteoporosis, Osteopenia ORPHA:98754
Prader-Willi Syndrome
Increased susceptibility to fractures, Osteopenia, Osteoporosis ORPHA:739
Aarskog-Scott Syndrome
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... OMIM:305400
Hajdu-Cheney Syndrome
Recurrent fractures, Coarse metaphyseal trabecularization, Osteolysis, Joint hyperflexibility, De... ORPHA:955
Wilson Disease
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Jaundice... OMIM:277900
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteoporosis, Osteopenia ORPHA:98793
Hajdu-Cheney Syndrome
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Joint laxity, Osteopenia, P... OMIM:102500
Classic Homocystinuria
Osteoporosis, Joint stiffness, Recurrent fractures ORPHA:394
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteoporosis, Osteopenia ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteoporosis, Osteopenia ORPHA:177901
Dominant Beta-Thalassemia
Osteoporosis ORPHA:231226
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis, Osteopenia ORPHA:2232
Glass Syndrome
Generalized osteoporosis, Camptodactyly OMIM:612313
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Jaundice, Eleva... ORPHA:93111
Frank-Ter Haar Syndrome
Osteoporosis, Cortical irregularity, Camptodactyly, Osteopenia OMIM:249420
Dend Syndrome
Hyperglycemia ORPHA:79134
Schwartz-Jampel Syndrome
Wrist flexion contracture, Hip contracture, Increased bone mineral density, Joint stiffness, Shou... ORPHA:800
Gitelman Syndrome
Rhabdomyolysis, Diabetic ketoacidosis, Type II diabetes mellitus, Neoplasm of the pancreas, Mater... ORPHA:358
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Cholestasis, Chronic hepatic failure ORPHA:746
Primary Biliary Cholangitis
Osteoporosis ORPHA:186
Occipital Horn Syndrome
Osteomalacia, Synostosis of joints, Rickets, Osteolysis, Osteopenia, Joint hyperflexibility, Oste... ORPHA:198
Prader-Willi Syndrome
Osteoporosis, Osteopenia OMIM:176270
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Increased hepatocellular lipid droplets, Increased intramyocellular lip... OMIM:220110
Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia ORPHA:398073
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hepatic calcification, Hepatomegaly ORPHA:228308
Tbck-Related Intellectual Disability Syndrome
Osteoporosis ORPHA:488632
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly OMIM:212065
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Dent Disease
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... ORPHA:1652
Steinert Myotonic Dystrophy
Hyperinsulinemia, Abnormality of masticatory muscle, Insulin resistance, Elevated hepatic transam... ORPHA:273
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis OMIM:616271
Hepatoerythropoietic Porphyria
Osteolysis, Osteopenia, Osteoporosis ORPHA:95159
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Left ventricular hypertrophy ORPHA:90065
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint laxity, Osteopenia, Osteoporosis OMIM:225400
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Lower-limb joint contracture, Reduced pancreatic beta cells, Neonatal insu...