Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Hfe MGI:109191

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

homeostatic iron regulator

Synonyms:

MR2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hfe 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 Hfe (3 diseases)
Human diseases predicted to be associated with Hfe (552 diseases)

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

Disease	Matching phenotypes	Source
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Joint stiffness,...	ORPHA:465508
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Spleno...	OMIM:235200
Cystic Fibrosis	Elevated hepatic transaminase, Osteopenia, Osteoporosis, Abnormality of the liver, Cirrhosis, Fai...	ORPHA:586

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

Disease	Matching phenotypes	Source
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho...	OMIM:603358
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce...	OMIM:615234
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr...	ORPHA:79230
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia, Abnormality of iron homeostasis	ORPHA:75563
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ...	ORPHA:446
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A...	ORPHA:300298
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis	OMIM:608805
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Elevated transferri...	ORPHA:766
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Idiopathic Hypercalciuria	Abnormal circulating calcium concentration, Osteopenia, Osteoporosis	ORPHA:2197
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc, Osteoporosis	OMIM:601979
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout	OMIM:610947
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad...	ORPHA:100024
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Osteoporosis	Osteoporosis	OMIM:166710
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Failure to thrive, Hyperlipidemia, Osteo...	ORPHA:369
Isolated Glycerol Kinase Deficiency	Osteoporosis, Elevated circulating creatine kinase concentration	ORPHA:408
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, O...	ORPHA:79301
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia, Decreased body weight	OMIM:613606
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep...	ORPHA:101330
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Hypocalcemia, Fa...	ORPHA:172
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615271
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno...	ORPHA:500166
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr...	OMIM:606069
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Atrophy/Degeneration affecting the br...	OMIM:614946
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:614727
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia	OMIM:612287
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n...	OMIM:619256
Winchester Syndrome	Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis	OMIM:277950
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail...	OMIM:228600
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:2787
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia	OMIM:612286
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Joint stiffness,...	ORPHA:465508
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Aceruloplasminemia	Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Spleno...	OMIM:235200
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal...	ORPHA:232
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Osteoporosis, Macrovesicular hepatic steatosis	OMIM:618234
Juvenile Paget Disease	Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabec...	ORPHA:2801
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro...	ORPHA:98870
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagne...	ORPHA:398063
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Copper Deficiency, Familial Benign	Decreased circulating copper concentration, Anemia	OMIM:121270
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin...	ORPHA:231226
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:617395
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Leukoencephalopathy, Depression, Lateral ventricle dilatation, Dementia, Neur...	OMIM:615889
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:435934
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:600081
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscu...	ORPHA:231214
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of...	OMIM:604213
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperuricemia, Hypercholes...	ORPHA:77296
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia	ORPHA:99879
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615267
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia	OMIM:301107
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Abnormal circulating beta-C-terminal telopeptide concentration, Tall stature	OMIM:615923
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent...	OMIM:266510
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis	ORPHA:53697
Ceroid Lipofuscinosis, Neuronal, 7	Mental deterioration, Cerebellar atrophy, Neurodegeneration, Cerebral atrophy	OMIM:610951
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis	ORPHA:88643
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O...	ORPHA:98850
Familial Benign Copper Deficiency	Decreased circulating copper concentration, Anemia	ORPHA:1551
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany	OMIM:612462
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Abnormal circulating calcium concentration, Multiple prenatal fractures, Red...	OMIM:619795
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,...	OMIM:241530
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Hypocalcemic tetany	OMIM:103580
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Tall stature, Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia, Disproportionate t...	OMIM:236200
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis	ORPHA:2958
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia	OMIM:612716
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis, Dystonia	ORPHA:382
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypocalcemia, Hypophosphatemia	OMIM:619073
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity, Tall stature	OMIM:618406
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Osteoporosis	OMIM:616033
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Sialidosis Type 2	Splenomegaly, Hepatomegaly, Flexion contracture, Osteoporosis	ORPHA:87876
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Trichohepatoenteric Syndrome 2	Hepatomegaly, Cirrhosis, Decreased serum iron, Chronic hepatitis	OMIM:614602
Summitt Syndrome	Obesity, Craniosynostosis	OMIM:272350
Prieto Syndrome	Osteoporosis	OMIM:309610
Rothmund-Thomson Syndrome, Type 1	Osteoporosis	OMIM:618625
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a...	OMIM:615381
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Pericardial lymphangiectasia, Osteoporosis, Pulmonary lymphangiectasia, Camptodactyly, Intestinal...	OMIM:616006
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis, Obesity	OMIM:610628
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:601820
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Pseudopseudohypoparathyroidism	Osteoporosis, Obesity	OMIM:612463
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os...	OMIM:239000
Propionic Acidemia	Hepatomegaly, Pancytopenia, Thrombocytopenia, Osteoporosis, Hyperammonemia, Hyperglycinemia, Neut...	OMIM:606054
Familial Infantile Bilateral Striatal Necrosis	Basal ganglia gliosis, Failure to thrive, Astrocytosis	ORPHA:225154
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab...	OMIM:264700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Decreased body weight, Delayed ossification of carpal bones, Reduced b...	OMIM:618392
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Overweight, Failure to thrive, Flexion contracture, Decreased serum iron	ORPHA:391372
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:256450
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Short Stature, Dauber-Argente Type	Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio...	OMIM:619489
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Slender build, Astrocytosis	OMIM:611087
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia	OMIM:193100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Hip contracture, Large for gestational age, Microvesicular hepatic steatosis, Birth...	OMIM:300868
Warburg Micro Syndrome 1	Failure to thrive, Osteoporosis, Joint hypermobility	OMIM:600118
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibilit...	ORPHA:289157
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Failure to thrive, Small for gestational age, Slender build	ORPHA:50811
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Short attention span, Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal dementia, Fr...	ORPHA:412066
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal...	ORPHA:1414
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis	ORPHA:71267
Sporadic Creutzfeldt-Jakob Disease	Gliosis, Astrocytosis	ORPHA:204
Obesity And Hypopigmentation	Overgrowth, Hepatic steatosis, Obesity	OMIM:620195
Mucolipidosis Iv	Cerebellar atrophy, Progressive neurologic deterioration, Cerebral dysmyelination, Microcephaly, ...	OMIM:252650
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit...	ORPHA:85435
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab...	OMIM:277440
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration	ORPHA:521411
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Osteoporosis, Truncal obesity, Failure to thrive, Neonatal hyperbiliru...	ORPHA:73272
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Obesity	OMIM:608320
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to ...	ORPHA:500180
Hall-Riggs Syndrome	Failure to thrive, Osteoporosis	OMIM:234250
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil...	ORPHA:890
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Abnormalit...	ORPHA:2169
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Osteoporosis	ORPHA:319195
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:614880
Bruck Syndrome 1	Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture...	OMIM:259450
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Osteoporosis, Increased body weight	OMIM:615954
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Astrocytosis	OMIM:600795
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Osteoporosis, Obesity, Abdominal obesity	OMIM:219090
Mycetoma	Osteomyelitis, Bone cyst, Osteoporosis, Abnormality of the lymphatic system, Painless fractures d...	ORPHA:2583
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Aromatase Deficiency	Osteopenia, Eunuchoid habitus, Hyperlipidemia, Delayed epiphyseal ossification, Osteoporosis, Obe...	ORPHA:91
Liver Disease, Severe Congenital	Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Neurodegeneration With Brain Iron Accumulation 6	Mental deterioration, Neurodegeneration, Hypoplasia of the corpus callosum, Depression	OMIM:615643
Perrault Syndrome 1	Osteoporosis	OMIM:233400
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Recurrent fractures, Osteoporosis, Obesity, Flexion contracture of toe	ORPHA:3409
Hypercholanemia, Familial 1	Failure to thrive, Rickets, Increased serum bile acid concentration	OMIM:607748
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Failure to thrive, Osteoporosis, Rickets	OMIM:560000
Ovarian Dysgenesis 8	Eunuchoid habitus, Osteoporosis	OMIM:618187
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Osteoporosis, Camptodactyly of finger	ORPHA:48431
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Menkes Disease	Joint laxity, Decreased circulating ceruloplasmin concentration, Osteoporosis	OMIM:309400
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures	OMIM:126550
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Abnormal trabecular bone morphology, Splenomegaly, Anemia, Osteopetrosis, Hypocalce...	OMIM:612301
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity, Hypomagnesemia	OMIM:616418
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:617974
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis, Increased body weight	OMIM:615830
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Abnor...	OMIM:222470
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures	ORPHA:2788
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Flexion contracture, Osteoporosis, Elbow flexion co...	OMIM:214150
Dent Disease 1	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Truncal obesity, Osteoporosis, Pancreatitis	OMIM:610475
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Axial Osteomalacia	Osteomalacia, Increased bone mineral density, Polycystic liver disease, Elevated circulating crea...	OMIM:109130
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Generalized osteoporosis	OMIM:613849
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis	ORPHA:275864
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Jaundice, Osteopo...	ORPHA:79239
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb...	OMIM:277900
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive, Rickets	OMIM:602722
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Dysplastic corpus callosum, Global brain atrophy, Microcephaly	OMIM:618276
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase co...	OMIM:277700
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Recurrent fractures, Splenomegaly, Increased circulating ferritin co...	OMIM:222700
Slc39A8-Cdg	Osteopenia, Abnormal blood zinc concentration, Failure to thrive in infancy, Craniosynostosis, El...	ORPHA:468699
Bruck Syndrome	Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness	ORPHA:2771
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulati...	ORPHA:470
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron defici...	OMIM:212750
Cranioectodermal Dysplasia	Joint hyperflexibility, Osteoporosis, Craniosynostosis	ORPHA:1515
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Neurofibrillary tangles, Frontotemporal dementia, Dementia, Memory...	OMIM:619132
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Small for gestational age, Elevated circulating aspartate aminotransferase concentr...	OMIM:617093
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Mental deterioration, Cerebral atrophy, Secondary microcephaly, Neurodegenera...	OMIM:617672
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Hypertriglyceridemia, Primary microcephaly	OMIM:618010
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, Oste...	ORPHA:2848
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Hepatic fibrosis, Bone marrow hypocellul...	OMIM:613989
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Perrault Syndrome 4	Disproportionate tall stature, Osteoporosis, Obesity	OMIM:615300
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Osteoporosis	OMIM:614838
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Large for gestational age, Rickets, Hy...	OMIM:616026
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones	ORPHA:93351
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Osteoporosis, Bili...	ORPHA:186
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess	ORPHA:89937
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Obesity, Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2235
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Truncal obesity, Osteoporosis	OMIM:219080
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype...	OMIM:612714
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Portal hyperte...	OMIM:619487
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Decreased body weight, Osteoporosis, Hepatocellular carcinoma	OMIM:616200
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopeni...	OMIM:620210
Xp21 Deletion Syndrome	Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo...	ORPHA:261476
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul...	ORPHA:171680
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity	ORPHA:71529
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, O...	OMIM:232220
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Abnormalit...	ORPHA:84064
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner...	ORPHA:157215
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ...	OMIM:208230
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Overgrowth, Tall stature	ORPHA:785
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness	ORPHA:66627
Primary Sclerosing Cholangitis	Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbumine...	ORPHA:171
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Inherited Creutzfeldt-Jakob Disease	Astrocytosis	ORPHA:282166
Immunodeficiency 12	Osteoporosis, Abnormal lymphocyte count, Decreased body weight	OMIM:615468
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hyperlipidemia, Osteoporosis, Increased body weight, Increased susceptibility to fractures, Abdom...	ORPHA:189427
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Elevated circulating creatine kinase concentration, Shoulder flexion contracture...	OMIM:255800
Osteootohepatoenteric Syndrome	Recurrent fractures, Microvesicular hepatic steatosis, Cholestasis, Reduced bone mineral density,...	OMIM:619377
Cantu Syndrome	Osteoporosis, Large for gestational age	OMIM:239850
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu...	OMIM:300972
Amish Lethal Microcephaly	Hepatomegaly, Decreased skull ossification, Osteoporosis, Limitation of joint mobility	ORPHA:99742
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th...	OMIM:259100
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Obesity	OMIM:603233
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Osteomyelitis, Failure to thrive in infancy, Neutrophilia, Elevated cir...	OMIM:612852
Rothmund-Thomson Syndrome	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Aplastic ...	ORPHA:2909
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Increased hepatic glycogen content, Large for gestational age, Increased circula...	ORPHA:293964
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Senior-Loken Syndrome 9	Osteopenia, Hepatic fibrosis, Obesity, Cholestasis	OMIM:616629
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Blue Diaper Syndrome	Elevated hepatic transaminase, Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, H...	OMIM:232200
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Flexion contracture, Anemia, Decreased serum zinc, Hypoa...	ORPHA:89842
Linear Verrucous Nevus Syndrome	Reduced bone mineral density, Hypophosphatemia	ORPHA:2611
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i...	ORPHA:371428
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmu...	ORPHA:77293
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis, Reduced bone mineral density	ORPHA:977
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic...	OMIM:203700
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Recurrent fractures, Joint hypermobility	OMIM:619131
Desbuquois Dysplasia 1	Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa...	OMIM:251450
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex	OMIM:617952
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Obesity	ORPHA:329249
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Joint stiffness, Flexion contracture, Reduced bone mineral density, Weight loss, Abnorm...	ORPHA:1979
Dent Disease	Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre...	ORPHA:1652
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Truncal obesity, Osteoporosis	OMIM:610489
Spondylo-Ocular Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:85194
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib...	ORPHA:541423
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Cerebral atrophy, Neurodegeneration, Cognitive impairment, Puncta...	ORPHA:309246
Farber Disease	Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis with episodic jaundice...	ORPHA:333
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate...	ORPHA:2088
Hutchinson-Gilford Progeria Syndrome	Osteolysis, Generalized osteoporosis	OMIM:176670
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia	OMIM:613388
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility	ORPHA:1901
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ...	ORPHA:69663
Congenital Myopathy 22A, Classic	Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contracture...	OMIM:620351
Pontocerebellar Hypoplasia, Type 2E	Failure to thrive, Flexion contracture, Osteoporosis	OMIM:615851
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased mean cor...	OMIM:127550
Rhyns Syndrome	Osteopenia, Osteoporosis	OMIM:602152
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Osteoporosis, Lambdoidal craniosynostosis, Large for gestational age	OMIM:615398
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis...	ORPHA:2796
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Chronic neutropenia, Hyperlipi...	ORPHA:79259
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Osteoporosis, Hepatic fibrosis, Bone marrow hypocellularity, Throm...	OMIM:224230
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal circulating C-reactive protein concentration, Limitation of joint mobility, Abnormality ...	ORPHA:1159
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Cerebral atrophy, Dementia, Neurodegeneration, Eye of the tiger anomaly of gl...	OMIM:300894
Odontochondrodysplasia 1	Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility	OMIM:184260
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Rothmund-Thomson Syndrome Type 1	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Aplastic ...	ORPHA:221008
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Small for gestational age, Macronodular cirrhosis, Abnormal T ...	OMIM:215250
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, ...	ORPHA:97289
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis	ORPHA:199354
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Osteopenia, Neoplasm of the pancreas, Multiple joint contractures,...	ORPHA:2959
Rothmund-Thomson Syndrome Type 2	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Aplastic ...	ORPHA:221016
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Geroderma Osteodysplastica	Joint hyperflexibility, Osteoporosis, Recurrent fractures, Abnormal bone ossification	ORPHA:2078
Spondyloepiphyseal Dysplasia Tarda	Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter...	ORPHA:93284
Summitt Syndrome	Tall stature, Camptodactyly of finger, Craniosynostosis, Obesity	ORPHA:3210
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Neurodegeneration With Brain Iron Accumulation 3	Cavitation of the basal ganglia, Subcortical dementia, Dementia, Neurodegeneration, Emotional lab...	OMIM:606159
Nephronophthisis 15	Elevated hepatic transaminase, Obesity	OMIM:614845
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis, Osteopo...	OMIM:307030
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Cervical C2/C3 vertebral fusi...	OMIM:618000
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal circulating cholesterol concentration, Osteoporosis	OMIM:213700
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Rickets, Osteoporosis, Weight loss, Iron deficiency anemia, Exocrine pancreatic ins...	ORPHA:309031
Lowry-Maclean Syndrome	Osteopenia, Abnormality of the abdominal organs, Osteoporosis, Craniosynostosis	ORPHA:2409
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
19P13.3 Microduplication Syndrome	Osteoporosis	ORPHA:447980
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Hepatomegaly, Decreased serum zinc	OMIM:201100
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Epiphyseal stippling, Small for gestational age, Increased body weight	OMIM:274300
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Cerebral calcification, Hydrocephalus, Mental deterioration, Neurodegeneration,...	OMIM:618476
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Elevated circulating creatine kinase ...	OMIM:614298
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased...	OMIM:231070
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Brain atrophy, A...	OMIM:616900
Combined Oxidative Phosphorylation Deficiency 54	Memory impairment, Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matt...	OMIM:619737
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration	OMIM:620306
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Thrombocyto...	OMIM:613990
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Osteoporosis, Ivory epiphyses of the phalanges of the hand, Irregular tarsal ossifi...	OMIM:226980
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo...	OMIM:614008
Occipital Horn Syndrome	Joint laxity, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con...	OMIM:304150
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol...	ORPHA:168558
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Osteoporosis, Weight loss, Hypophosphatemia, Pancreatitis	ORPHA:143
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis	ORPHA:71526
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Osteoporosis, Obesity, Abdominal obesity, Failure to thrive	ORPHA:398079
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Large for gestational age, Osteoporosis, Finger joint hypermobility	ORPHA:363705
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol...	ORPHA:289548
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Eunuchoid habitus, Generalized joint laxity, Osteoporosis, Camptodactyly	ORPHA:432
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating p...	ORPHA:79277
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Highly elevated creatine kinase, Astrocytosis, Decreased body weight	ORPHA:258
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Decreased calv...	OMIM:259420
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Osteoporosis, Recurrent fractures, Reduced bone mineral density	OMIM:616507
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Osteoporosis, Joint hypermobility, Bicoronal synostosis	OMIM:619718
Macs Syndrome	Joint laxity, Osteoporosis, Joint hypermobility, Decreased body weight	OMIM:613075
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture	OMIM:614438
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Osteoporosis	OMIM:617190
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo...	ORPHA:29073
Werner Syndrome	Increased bone mineral density, Osteoporosis, Slender build, Joint stiffness	ORPHA:902
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture...	OMIM:620232
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Hypercalcemia, Craniosynostosis, Obesity, Increased blood urea nitrogen, Epi...	ORPHA:251004
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Splenomegaly, Abnormal circulating porphyrin concentration, Osteopo...	ORPHA:95159
Progressive Non-Fluent Aphasia	Astrocytosis	ORPHA:100070
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Reduced bone mineral density...	ORPHA:94068
Coxoauricular Syndrome	Reduced bone mineral density	ORPHA:1508
Mucopolysaccharidosis, Type Ivb	Joint laxity, Hepatomegaly, Osteoporosis, Joint stiffness	OMIM:253010
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Thin bony cortex, Recurrent fractures, Osteoporosis, Tal...	OMIM:309583
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypercalcemia, Osteoporosis, Hypophosphatemia, Pancreatitis	ORPHA:99880
Mucopolysaccharidosis, Type Iva	Joint laxity, Hepatomegaly, Osteoporosis	OMIM:253000
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Recurrent fractures, Abnormality of neutrophils, Splenome...	ORPHA:1775
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Osteoporosis, Increased body weight, Abdominal obesity, Failure ...	ORPHA:398069
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Elbow flexion contractur...	ORPHA:1900
Functioning Gonadotropic Adenoma	Osteopenia, Osteoporosis	ORPHA:91348
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Bone marrow hy...	OMIM:612199
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Recurrent fractures, Joint stiffness, Osteoporosis, ...	ORPHA:394
Dworschak-Punetha Neurodevelopmental Syndrome	Elevated circulating creatine kinase concentration, Microcephaly, Dysplastic corpus callosum, Col...	OMIM:619955
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Large for gestational age, Absent ossification of capital femora...	ORPHA:226313
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Osteoporosis	ORPHA:2326
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Small for gestational age, Osteoporosis, Obesity, Failure to thrive	ORPHA:98754
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
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Anemia, Iron deficiency an...	ORPHA:79408
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Cranioectodermal Dysplasia 1	Joint laxity, Hepatomegaly, Malformation of the hepatic ductal plate, Sagittal craniosynostosis, ...	OMIM:218330
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Small for gestational age, Osteoporosis, Obesity, Failure to thrive	ORPHA:98793
Prader-Willi Syndrome	Osteopenia, Failure to thrive in infancy, Osteoporosis, Obesity, Abdominal obesity	OMIM:176270
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Small for gestational age, Osteoporosis, Obesity, Failure to thrive	ORPHA:177904
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia, Obesity	OMIM:617885
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Small for gestational age, Osteoporosis, Obesity, Failure to thrive	ORPHA:177901
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased body weight, Anemia	OMIM:614450
Hajdu-Cheney Syndrome	Osteopenia, Hepatomegaly, Failure to thrive, Recurrent fractures, Splenomegaly, Osteoporosis, Ost...	ORPHA:955
Cystic Fibrosis	Elevated hepatic transaminase, Osteopenia, Osteoporosis, Abnormality of the liver, Cirrhosis, Fai...	ORPHA:586
Carpenter Syndrome	Craniosynostosis, Obesity, Polysplenia	ORPHA:65759
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:615273
Schwartz-Jampel Syndrome	Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Elevated circulat...	ORPHA:800
Brittle Cornea Syndrome	Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures	ORPHA:90354
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Osteopenia, Joint laxity, Pancytopenia, Small for gestational age,...	OMIM:613658
X Small Rings	Joint laxity, Osteoporosis, Reduced bone mineral density	ORPHA:96201
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Osteoporosis, ...	ORPHA:254892
Prader-Willi Syndrome	Osteopenia, Osteoporosis, Increased susceptibility to fractures, Abdominal obesity, Failure to th...	ORPHA:739
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Recurrent fractures, Osteoporosis, Osteolytic defects of the distal phalanges ...	OMIM:601812
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis...	ORPHA:391487
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis	OMIM:300998
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Increased body weight	ORPHA:276608
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agen...	OMIM:614833
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ...	ORPHA:3206
Pontocerebellar Hypoplasia Type 2	Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia of the corpu...	ORPHA:2524
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Generalized joint laxity, Increased body weight	ORPHA:589905
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Osteoporosis	ORPHA:488632
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Glycogen accumulation in muscle...	ORPHA:365
Cleidocranial Dysplasia	Decreased skull ossification, Osteoporosis, Recurrent fractures	ORPHA:1452
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Short attention span, Neurofibrillary tangles, Cerebral atrophy, Neurodegener...	OMIM:610217
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Astrocytosis, Splenomegaly	ORPHA:90324
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene...	OMIM:619103
Cantú Syndrome	Osteoporosis	ORPHA:1517
Autosomal Dominant Hypocalcemia	Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Osteoporosis, Disproportionate tall stature, Tall stature	OMIM:225400
Stuve-Wiedemann Syndrome 1	Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac...	OMIM:601559
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca...	ORPHA:488627
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Jaundice, Osteoporosis, Hepatitis, Cholestasis, Rickets, Osteolysis, Jo...	ORPHA:198
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Tsh-Secreting Pituitary Adenoma	Osteopenia, Hypokalemia, Osteoporosis, Weight loss	ORPHA:91347
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth, Lymphop...	OMIM:605309
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemi...	ORPHA:79444
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Osteoporosis, Osteolytic defects of the phalanges of the hand, Foot acr...	OMIM:102500
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:26793
Cushing Disease	Leukocytosis, Osteoporosis, Increased body weight, Truncal obesity, Abdominal obesity, Decreased ...	ORPHA:96253
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Osteoporosis, Rad...	ORPHA:536467
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces...	ORPHA:89936
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ...	OMIM:112240
Prolactinoma	Osteopenia, Osteoporosis	ORPHA:2965
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
Cockayne Syndrome B	Hepatomegaly, Small for gestational age, Splenomegaly, Limitation of joint mobility, Osteoporosis...	OMIM:133540
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Hypercalcemia, Focal white matter lesions, Hypocalcemia	ORPHA:557003
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Limitation of joint...	ORPHA:79474
Glass Syndrome	Generalized osteoporosis, Camptodactyly	OMIM:612313
Supranuclear Palsy, Progressive, 1	Gliosis, Astrocytosis	OMIM:601104
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia, ...	ORPHA:412
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat...	ORPHA:544488
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Severe Generalized Junctional Epidermolysis Bullosa	Failure to thrive, Osteoporosis, Abnormal blood ion concentration, Anemia	ORPHA:79404
Menkes Disease	Osteomyelitis, Recurrent fractures, Tarsal synostosis, Osteoporosis, Joint hyperflexibility, Prol...	ORPHA:565
Frank-Ter Haar Syndrome	Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly	OMIM:249420
Rothmund-Thomson Syndrome, Type 2	Small for gestational age, Annular pancreas, Osteoporosis	OMIM:268400
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Limited elbow movement, Cachexia, Osteoporosis, Disproportionat...	ORPHA:558
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat...	ORPHA:79644
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Decreased serum iron, Osteoporosis, Anemia	ORPHA:438213
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ...	OMIM:259770
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis f...	ORPHA:79443
X-Linked Intellectual Disability, Snyder Type	Disproportionate tall stature, Osteoporosis, Recurrent fractures, Camptodactyly	ORPHA:3063
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, ...	ORPHA:667
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis...	OMIM:271640
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Osteoporosis, Camptodactyly, Fa...	ORPHA:86309
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis	ORPHA:2232
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcepha...	ORPHA:357058
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Abnormal circulating C-peptide co...	ORPHA:552
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Disproportionate tall stature, Osteoporosis, Joint hypermobility	ORPHA:536545
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Dysplastic corpus callosum, Hypocholesterolemia	OMIM:618810
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Osteoporosis, Leukopenia, Bone marrow hyp...	OMIM:305000
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Osteoporosis, Disproportionate tall stature, Abdominal situs inve...	ORPHA:280
Cerebrotendinous Xanthomatosis	Osteopenia, Osteoporosis, Increased susceptibility to fractures, Prolonged neonatal jaundice, Cho...	ORPHA:909
Osteogenesis Imperfecta	Osteopenia, Small for gestational age, Recurrent fractures, Fractures of the long bones, Osteoart...	ORPHA:666
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call...	OMIM:619179
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia, Obesity, Cholestasis	OMIM:609734
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Failure to thrive, Osteoporosis, Reduced bone mineral density	ORPHA:90796
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Dysplastic corpus callosum, Microcephaly	OMIM:604273
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Joint hypermobility, Sagittal craniosynostosis, Generali...	ORPHA:536471
Adrenocortical Carcinoma	Hypokalemia, Increased body weight, Weight loss	ORPHA:1501
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Osteopenia, Failure to thrive in infancy, Osteoporosis, Biliary ci...	ORPHA:99413
Turner Syndrome	Elevated hepatic transaminase, Osteopenia, Failure to thrive in infancy, Osteoporosis, Biliary ci...	ORPHA:881
Mosaic Monosomy X	Elevated hepatic transaminase, Osteopenia, Failure to thrive in infancy, Osteoporosis, Biliary ci...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Osteopenia, Failure to thrive in infancy, Osteoporosis, Biliary ci...	ORPHA:99226
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly	OMIM:620001
Osteogenesis Imperfecta, Type Iv	Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract...	OMIM:166220
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Osteoporosis,...	ORPHA:99889
Wrinkly Skin Syndrome	Osteopenia, Generalized joint laxity, Failure to thrive, High nonceruloplasmin-bound serum copper	ORPHA:2834
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly, Elevated circulating C-reactive protein conce...	OMIM:619423
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Cerebral calcification, Microcephaly, Basal ganglia calcification, Dysplastic c...	OMIM:617281
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Abnormal circulating fatty-acid concentration, Osteoarthritis, Biliar...	ORPHA:2298
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Lymphopenia, Anemia, Reduced bone mineral density	ORPHA:935
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Failure to thrive in infancy, Hypercalcemia, Portal hypertension, Flexi...	OMIM:194050
Primrose Syndrome	Hip contracture, Joint hypermobility, Elevated circulating alpha-fetoprotein concentration, Flexi...	OMIM:259050
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets	ORPHA:2636
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno...	ORPHA:284984
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Failure to thrive in infancy, Hypercalc...	ORPHA:904
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Insulinoma	Abnormality of the pancreatic islet cells, Increased body weight	ORPHA:97279
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Increased i...	ORPHA:79102
Sotos Syndrome	Joint laxity, Increased body weight, Overgrowth, Prolonged neonatal jaundice, Tall stature	OMIM:117550
Proximal Renal Tubular Acidosis	Hypokalemia, Failure to thrive, Bicarbonaturia, Reduced bone mineral density	ORPHA:47159
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex, Large for gestational age	OMIM:612731
Loeys-Dietz Syndrome 2	Joint laxity, Craniosynostosis, Osteoporosis, Disproportionate tall stature, Camptodactyly, Joint...	OMIM:610168
Cerebrofacioarticular Syndrome	Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Agenesis of corpus c...	ORPHA:314679
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe generalized osteoporosis, Knee flexion contracture	OMIM:210730
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly...	ORPHA:98908
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Lower-limb joint contracture, Osteoporosis	ORPHA:459070
Acute Transverse Myelitis	Decreased circulating copper concentration, Abscess	ORPHA:139417
46,Xy Partial Gonadal Dysgenesis	Osteoporosis	ORPHA:251510
17Q11 Microdeletion Syndrome	Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones	ORPHA:97685
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Atten...	OMIM:618820
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:363444
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Singleton-Merten Syndrome 1	Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand, Decreased body weight	OMIM:182250
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Pmm2-Cdg	Elevated hepatic transaminase, Osteopenia, Joint laxity, Multiple joint contractures, Reduced thy...	ORPHA:79318
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy,...	OMIM:151050
White-Kernohan Syndrome	Dysplastic corpus callosum, Attention deficit hyperactivity disorder	OMIM:619426
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Progressive ventriculomegaly, Ventriculomegaly, Dysplastic corpus callosum, S...	ORPHA:500150
Zttk Syndrome	Absent gallbladder, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Hypopl...	OMIM:617140
Witteveen-Kolk Syndrome	Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ...	OMIM:613406
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Thick corpus callosum	OMIM:300967
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	ORPHA:466791
Carney Complex	Neoplasm of the pancreas, Increased body weight, Abdominal obesity, Hepatocellular carcinoma, Tal...	ORPHA:1359

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 Hfe

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 Hfe.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Hfe2^{tm1b(KOMP)Wtsi}	PMC5503261

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hfe^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Hfe^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us