banner
Genes Phenotypes Help, News, Blog

Gene: Mchr1 MGI:2180756

Log in to follow

Gene Summary

Name:
melanin-concentrating hormone receptor 1
Synonyms:
Gpr24-9,  melanin-concentrating hormone receptor 1,  MCH-1R,  Gpr24,  Mch1r

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Mchr1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mchr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteoporosis
Osteoporosis OMIM:166710
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Extensor Tendons Of Finger Anomalies
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Elevated circulating C-reactive protein concentration, Patchy reductio... ORPHA:57196
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia, Obesity OMIM:620195
Obesity Due To Sim1 Deficiency
Obesity, Hypotension, Attention deficit hyperactivity disorder, Increased resting energy expendit... ORPHA:369873
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia OMIM:617885
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Laryngeal Neuroendocrine Tumor
Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Weight loss, Increased s... ORPHA:100083
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Recurrent fever, Decreased body weight OMIM:620085
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Idiopathic Hypercalciuria
Osteopenia, Abnormal circulating calcium concentration, Osteoporosis ORPHA:2197
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout OMIM:610947
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis ORPHA:53697
Autism
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... OMIM:607373
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... ORPHA:324575
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Winchester Syndrome
Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis OMIM:277950
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Isolated Glycerol Kinase Deficiency
Osteoporosis, Elevated circulating creatine kinase concentration ORPHA:408
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:2787
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellitus, Hyperinsulinemi... ORPHA:276575
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal ... ORPHA:171706
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellit... ORPHA:276580
Analbuminemia
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Hypertrophic cardiomyop... ORPHA:276556
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612287
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Familial Hyperprolactinemia
Osteopenia, Osteoporosis ORPHA:397685
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Weight loss, Addictive alcohol... ORPHA:399
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis OMIM:228600
14Q11.2 Microduplication Syndrome
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... OMIM:608636
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612286
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Forsythe-Wakeling Syndrome
Osteoporosis OMIM:613606
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... ORPHA:45452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Kleine-Levin Syndrome
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A... ORPHA:33543
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2410
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Idiopathic Achalasia
Dysphagia, Weight loss ORPHA:930
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Hyperinsulinemia, Primary hy... ORPHA:97279
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Abno... ORPHA:79230
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Pulmonary Blastoma
Weight loss ORPHA:64741
Hereditary Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:30925
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Osteoporosis OMIM:601979
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Chronic Hiccup
Abnormal eating behavior, Weight loss ORPHA:396
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Tuberculosis
Weight loss ORPHA:3389
6Q16 Microdeletion Syndrome
Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Inability to walk, Flexion contracture, Obesity, Hypog... OMIM:615547
Central Diabetes Insipidus
Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus ORPHA:178029
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Dysphagia OMIM:255100
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Osteoporosis, Elevated circulating creatine kinase concentration OMIM:614727
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
Juvenile Paget Disease
Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabec... ORPHA:2801
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis ORPHA:100024
Pediatric-Onset Graves Disease
Hyperactivity, Puberty and gonadal disorders, Increased circulating free T3, Thyrotoxicosis with ... ORPHA:525731
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Agitation, Increased body weight ORPHA:276608
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Abnormal circulating calcium concentration, Multiple prenatal fractures, Red... OMIM:619795
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:300942
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:614880
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Incr... OMIM:610600
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Narcolepsy 3
Narcolepsy OMIM:609039
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal growth reta... ORPHA:453533
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Osteoporosis OMIM:616033
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Osteopenia OMIM:615266
Acquired Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Osteoporosis, Recurrent fractures OMIM:126550
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Bruck Syndrome 1
Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture... OMIM:259450
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Prieto Syndrome
Osteoporosis OMIM:309610
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... ORPHA:556037
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Malignant Hyperthermia, Susceptibility To, 5
Fever, Tachycardia, Malignant hyperthermia OMIM:601887
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hyperlipidemia, Osteoporosis ORPHA:369
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Polydipsia, Failure to thrive, Decreased circulating a... ORPHA:320
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypergonadotropic hypogonadism, Polyphagia, Decreased response to growth hormo... OMIM:606407
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... ORPHA:556030
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:166277
Variegate Porphyria
Tachycardia OMIM:176200
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Narcolepsy 1
Narcolepsy OMIM:161400
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Thrombocytopenia 6
Myelofibrosis, Osteoporosis OMIM:616937
East Syndrome
Salt craving, Ataxia, Inability to walk, Hyperaldosteronism, Increased circulating renin level, D... ORPHA:199343
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Pyle Disease
Limited elbow extension, Thin bony cortex, Reduced bone mineral density OMIM:265900
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Weight loss OMIM:188580
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia ORPHA:99879
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Precocious puberty in females, Aggressive behavior, Inab... ORPHA:72
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis ORPHA:79301
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435651
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Short Stature, Dauber-Argente Type
Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio... OMIM:619489
High Altitude Pulmonary Edema
Fever, Tachycardia, Anorexia ORPHA:330012
Cranio-Osteoarthropathy
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:1525
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435660
Moynahan Syndrome
Short stature, Hypogonadism, Cachexia ORPHA:2574
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Non-periodic recurrent fever, Dysphagia, Loss of ambulation, Abnormal repetitive man... ORPHA:79264
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... ORPHA:85435
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Bruck Syndrome
Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness ORPHA:2771
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Fractures of the long bones, Osteoporosis ORPHA:319195
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity disorder OMIM:617182
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Reduced bone mineral density OMIM:617974
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi... ORPHA:35878
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Weight loss, Pheochromocytoma, Elevated circulating calci... ORPHA:1332
Perrault Syndrome 1
Osteoporosis OMIM:233400
Man1B1-Cdg
Truncal obesity, Broad-based gait, Polyphagia ORPHA:397941
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... OMIM:608594
Leber Hereditary Optic Neuropathy
Arrhythmia, Ataxia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ... ORPHA:449285
16P12.1P12.3 Triplication Syndrome
Nail-biting, Hyperactivity, Tachycardia, Attention deficit hyperactivity disorder, Skin-picking, ... ORPHA:485405
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Flexion contracture, Interphalangeal thumb joint contracture, Hypertension, Agitation OMIM:613870
Tetanus
Fever, Tachycardia, Hypertension, Bradycardia, Dysphagia ORPHA:3299
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... OMIM:615238
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Cystinosis
Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Gait disturbance, Delayed puberty... ORPHA:213
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Generalized osteoporosis OMIM:613849
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... ORPHA:90793
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Short stature, Precocious puberty, Insulin-resistant dia... OMIM:262190
Panhypophysitis
Polydipsia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, Ad... ORPHA:95513
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
Wagro Syndrome
Aggressive behavior, Obesity, Hypertension, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight ORPHA:1672
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Huntington Disease-Like 2
Weight loss ORPHA:98934
Secondary Short Bowel Syndrome
Central hypothyroidism, Weight loss, Primary hypothyroidism, Steatorrhea, Failure to thrive, Poly... ORPHA:95427
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Dysphagia, Weight loss ORPHA:2198
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Small for gestational age, Hypothermia, Overweight, Dilated c... ORPHA:26793
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility OMIM:600118
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger ORPHA:48431
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures ORPHA:2788
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... ORPHA:2298
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Impulsivity, Precocious puberty, Flexion contracture, Increased body weight, ... ORPHA:398069
Sialidosis Type 2
Flexion contracture, Osteoporosis ORPHA:87876
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... OMIM:269700
Narcolepsy 7
Narcolepsy OMIM:614250
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Metatropic Dysplasia
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... ORPHA:2635
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Isaacs Syndrome
Weight loss ORPHA:84142
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly OMIM:616006
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex OMIM:617952
Luscan-Lumish Syndrome
Polyphagia, Obesity, Aggressive behavior OMIM:616831
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, Oste... ORPHA:2848
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Flexion contracture, W... ORPHA:1979
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Athetosis, Hyperaldosteronism, Dexamethasone-sup... ORPHA:369929
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Malignant hyperthermia OMIM:145600
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Osteoporosis ORPHA:529665
Pseudopseudohypoparathyroidism
Osteoporosis OMIM:612463
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Mycetoma
Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab... ORPHA:2583
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Rett Syndrome
Inability to walk, Gait disturbance, Agitation, Increased serum leptin, Difficulty walking, Failu... ORPHA:778
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Cranioectodermal Dysplasia
Joint hyperflexibility, Osteoporosis, Craniosynostosis ORPHA:1515
Hall-Riggs Syndrome
Osteoporosis OMIM:234250
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Menkes Disease
Joint laxity, Decreased circulating ceruloplasmin concentration, Osteoporosis OMIM:309400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones ORPHA:93351
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Adrenal hyperplasia, Decreased... ORPHA:231580
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss ORPHA:2126
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Hyperthyroidism, Nonautoimmune
Hyperactivity, Tachycardia, Small for gestational age OMIM:609152
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... ORPHA:73
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Diabetes insipidus OMIM:304800
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Osteoporosis, Hypocholesterolemia OMIM:266510
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Obesity OMIM:619737
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Ventricular tachycardia, Palpitations, Recurrent fev... OMIM:263800
Paternal Uniparental Disomy Of Chromosome 1
Hypertension, Polyphagia, Abnormal dental enamel morphology, Obesity ORPHA:251004
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Polydipsia, Failure to thrive OMIM:125800
Histiocytoid Cardiomyopathy
Fever, Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junction... ORPHA:137675
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Lipodystrophy, Flexion contracture, Brad... OMIM:613327
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Abnormal atrioventricular valve physiology, Right... ORPHA:1329
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Polydipsia, Elevated circulating parathyroid hormone level, Primary hyperparat... OMIM:239200
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ... OMIM:208230
Refractory Celiac Disease
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Small for gestational age, Cardiac shunt, Congestive heart failure, Left ventricular... ORPHA:860
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Cerebrooculofacioskeletal Syndrome 1
Flexion contracture, Osteoporosis, Elbow flexion contracture, Knee flexion contracture, Camptodac... OMIM:214150
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness ORPHA:66627
Familial Cold Urticaria
Polydipsia ORPHA:47045
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os... OMIM:239000
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Osteoporosis, Recurrent fractures, Flexion contracture of toe ORPHA:3409
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Increased serum iron, Osteoporosis OMIM:235200
Timothy Syndrome
Prolonged QT interval, Hypothermia, Ventricular tachycardia, Atrioventricular block, Bradycardia,... OMIM:601005
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Car T Cell Therapy-Associated Cytokine Release Syndrome
Fever, Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypo... ORPHA:542323
Erythrokeratodermia Variabilis
Diabetes mellitus, Short stature, Weight loss ORPHA:317
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hyperinsulinemia, Obesity, Type II diabetes mellit... ORPHA:3085
Hydroxykynureninuria
Tachycardia, Abnormal repetitive mannerisms, Hypotension ORPHA:79155
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... OMIM:620366
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Short stature, Weight loss ORPHA:388
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Failure to thrive in infancy ORPHA:264675
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent ... OMIM:156200
Indolent Systemic Mastocytosis
Osteoporosis ORPHA:98848
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Recurrent fractures, Joint hypermobility OMIM:619131
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnormality of the hypotha... ORPHA:3157
Pleural Mesothelioma
Dysphagia, Weight loss ORPHA:50251
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Serotonin Syndrome
Fever, Restlessness, Tachycardia, Hypertension, Agitation, Hypotension ORPHA:43116
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Increased circulating renin level, ... OMIM:612780
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia, Hypermethioninemia, Generalized ... OMIM:236200
Hereditary Coproporphyria
Atypical scarring of skin, Tachycardia, Fever ORPHA:79273
Sickle Cell Anemia
Elevated circulating creatinine concentration, Osteomyelitis, Osteoporosis, Unconjugated hyperbil... ORPHA:232
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity OMIM:615994
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Joint contracture, Hypertriglyceridemia, Osteoporosis OMIM:615381
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Agitation, Increased body weight, Large for gestational age ORPHA:263455
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility ORPHA:1486
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Mixed-Type Autoimmune Hemolytic Anemia
Fever, Tachycardia ORPHA:90036
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis OMIM:615830
Werner Syndrome
Hypertriglyceridemia, Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density OMIM:277700
Xp21 Deletion Syndrome
Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo... ORPHA:261476
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Dysphagia ORPHA:368
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... ORPHA:371428
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Thyroid hemiagenesis, Ataxia, Failure to t... ORPHA:209905
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Polydipsia, Failure to thrive, Anorexia ORPHA:223
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Tularemia
Fever, Tachycardia ORPHA:3392
Parathyroid Carcinoma
Primary hyperparathyroidism, Abnormal parathyroid morphology, Weight loss, Elevated circulating p... ORPHA:143
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Alexander Disease Type I
Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Subcutaneous ossification, Osteoporosis, Hyperphosphatemia OMIM:103580
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia, Weight loss ORPHA:98897
Riboflavin Transporter Deficiency
Cachexia, Aggressive behavior, Hypogonadism, Dysphagia, Diabetes insipidus ORPHA:97229
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Hypocalcemia OMIM:612462
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Autoimmune Hemolytic Anemia, Warm Type
Fever, Congestive heart failure, Tachycardia ORPHA:90033
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Cardiac arrest, Oral-pharyngeal dysphagia, Ventricular tachycardia, Gait ataxia, Gait dis... OMIM:616878
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggr... ORPHA:293987
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility ORPHA:1901
Dietary Iron Overload Disease
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Elev... ORPHA:139507
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Elevated circulating creatine kinase concentration, Shoulder flexion contracture... OMIM:255800
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Aredyld Syndrome
Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Short stature, Type II diabetes mellitu... ORPHA:1133
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Precocious puberty, Insulin-resista... ORPHA:769
Pseudomyxoma Peritonei
Hernia, Weight loss ORPHA:26790
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait ataxia, Recurrent fever OMIM:618321
Propionic Acidemia
Osteoporosis, Hyperglycinemia, Hyperammonemia OMIM:606054
Sepsis In Premature Infants
Fever, Tachycardia, Small for gestational age, Bradycardia, Hypotension, Decreased body weight, T... ORPHA:90051
Classic Galactosemia
Osteoporosis, Reduced bone mineral density ORPHA:79239
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis OMIM:615954
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest, Anorexia ORPHA:49827
Stiff-Person Syndrome
Fever, Hypertension, Tachycardia OMIM:184850
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Mercury Poisoning
Hypotension, Hypertension, Tachycardia, Anorexia ORPHA:330021
Spondylo-Ocular Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:85194
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Broad-based gait, Aggressive behavior, Polyphagia, Self-mutilation ORPHA:251028
Rhyns Syndrome
Osteopenia, Osteoporosis OMIM:602152
Danon Disease
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... OMIM:300257
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular a... ORPHA:98855
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2235
Anaplastic Thyroid Carcinoma
Weight loss, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter ORPHA:142
Congenital Fibrinogen Deficiency
Fever, Tachycardia, Internal hemorrhage ORPHA:335
Huntington Disease-Like 2
Weight loss OMIM:606438
Christianson Syndrome
Cachexia, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex congenita, Abnormal repetit... ORPHA:85278
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th... OMIM:259100
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Osteoporosis OMIM:219080
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Insuli... ORPHA:363400
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Hypothermia, Congestive h... ORPHA:31826
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Fructose-1,6-Bisphosphatase Deficiency
Fever, Tachycardia OMIM:229700
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Whipple Disease
Ataxia, Cachexia, Anorexia, Polydipsia, Hypothyroidism ORPHA:3452
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... OMIM:259600
Hyperparathyroidism-Jaw Tumor Syndrome
Primary hyperparathyroidism, Abnormal parathyroid morphology, Parathyroid adenoma, Elevated circu... ORPHA:99880
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Ochoa Syndrome
Polydipsia ORPHA:2704
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... OMIM:241530
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors ORPHA:444002
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Postnatal growth retardation, Hyperinsulinemia, Pancreat... OMIM:246200
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Fever, Hyperpyrexia, Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hype... OMIM:614653
Amish Lethal Microcephaly
Decreased skull ossification, Osteoporosis, Limitation of joint mobility ORPHA:99742
Relapsing Fever
Fever, Tachycardia, Epistaxis, Hypotension ORPHA:91547
Beta-Thalassemia Intermedia
Osteopenia, Osteoporosis, Reduced bone mineral density, Increased susceptibility to fractures, Ab... ORPHA:231222
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Adnp Syndrome
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper... ORPHA:404448
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Focal Myositis
Weight loss ORPHA:48918
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint stiffness, Increased circulating ferritin concentration, Elevated transferrin saturation, O... ORPHA:465508
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular a... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular a... ORPHA:98853
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Neonatal hyperbilirubinemia ORPHA:73272
Odontochondrodysplasia 1
Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility OMIM:184260
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 concentration, Umbilical hernia, Elevated circulating thyroid-stimulatin... ORPHA:95717
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Hypogonadism, H... ORPHA:91351
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Osteoporosis, Joint hypermobility, Bicoronal synostosis OMIM:619718
Teratoma, Pineal
Polydipsia OMIM:273120
Cocaine Intoxication
Fever, Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse ... ORPHA:90068
Geroderma Osteodysplastica
Joint hyperflexibility, Osteoporosis, Recurrent fractures, Abnormal bone ossification ORPHA:2078
Hypomagnesemia 3, Renal
Failure to thrive, Polydipsia, Elevated circulating parathyroid hormone level OMIM:248250
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Neuroendocrine Tumor Of The Colon
Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid t... ORPHA:100080
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Anorexia, Increased circulating ACTH level, Pu... ORPHA:97287
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Osteoporosis, Hyperhomocystinemia ORPHA:2169
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Localized osteoporosis ORPHA:199354
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Cervical C2/C3 vertebral fusi... OMIM:618000
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Malignant Hyperthermia Of Anesthesia
Fever, High-output congestive heart failure, Ventricular tachycardia, Malignant hyperthermia, Pre... ORPHA:423
Neuroleptic Malignant Syndrome
Fever, Tachycardia, Hypothermia, Pulmonary embolism, Hypertension, Agitation, Bradycardia, Hypote... ORPHA:94093
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... OMIM:231070
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular a... ORPHA:98863
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... ORPHA:157215
Scorpion Envenomation
Fever, Restlessness, Bundle branch block, Tachycardia, Ataxia, Cardiac conduction abnormality, Co... ORPHA:466677
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Osteoporosis ORPHA:785
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cort... ORPHA:1227
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... ORPHA:90796
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... OMIM:300952
Carney-Stratakis Syndrome
Dysphagia, Paraganglioma, Weight loss ORPHA:97286
Galactokinase Deficiency
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... ORPHA:79237
Congenital Myopathy 22A, Classic
Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contracture... OMIM:620351
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Osteoporosis, Recurrent fractures, Reduced bone mineral density OMIM:616507
Cantu Syndrome
Osteoporosis OMIM:239850
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... ORPHA:171876
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Heart murmur, Truncal obesity, M... OMIM:615873
Niemann-Pick Disease, Type A
Osteoporosis OMIM:257200
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Desbuquois Dysplasia 1
Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa... OMIM:251450
Eosinophilic Fasciitis
Fasciitis, Weight loss, Cellulitis ORPHA:3165
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Decreased calv... OMIM:259420
Weaver Syndrome
Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia OMIM:277590
Graft Versus Host Disease
Tachycardia, Fasciitis, Lipodystrophy, Dupuytren contracture, Failure to thrive ORPHA:39812
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter... ORPHA:93284
Perrault Syndrome 4
Osteoporosis OMIM:615300
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal circulating C-reactive protein concentration, Limitation of joint mobility, Abnormality ... ORPHA:1159
Myotonic Dystrophy 2
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction OMIM:602668
19P13.3 Microduplication Syndrome
Osteoporosis ORPHA:447980
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Mast Cell Sarcoma
Weight loss ORPHA:66661
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Ataxia, Malignant hyperthermia, Hypertension, Gait disturbance ORPHA:1764
Hemorrhagic Fever-Renal Syndrome
Fever, Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melen... ORPHA:340
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue loss, Insulin res... ORPHA:528
Coxoauricular Syndrome
Reduced bone mineral density ORPHA:1508
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Follicular Lymphoma
Weight loss ORPHA:545
Mirizzi Syndrome
Fever, Tachycardia, Anorexia ORPHA:521219
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Osteoporosis OMIM:616200
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Severe shor... ORPHA:3163
Double Outlet Right Ventricle
Tachycardia, Failure to thrive, Heart murmur, Pulmonic stenosis ORPHA:3426
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Weight loss ORPHA:65682
Pontocerebellar Hypoplasia, Type 2E
Flexion contracture, Osteoporosis OMIM:615851
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:264700
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Aggressive Systemic Mastocytosis
Pathologic fracture, Osteoporosis, Osteolysis ORPHA:98850
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Weight loss, Severe short-limb dwarfism, Hernia, Failure to thrive ORPHA:1842
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus, Cachexia ORPHA:2047
Perry Syndrome
Weight loss ORPHA:178509
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Dysphagia ORPHA:298
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Classic Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:391
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Malignant hyperthermia, Aborted sudden... OMIM:614921
Hsd10 Disease
Abnormal social behavior, Dysphagia ORPHA:391417
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Lowry-Maclean Syndrome
Osteopenia, Osteoporosis, Craniosynostosis ORPHA:2409
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture OMIM:614438
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Osteoporosis, Lambdoidal craniosynostosis OMIM:615398
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Neuroendocrine Tumor Of The Rectum
Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid t... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid t... ORPHA:100082
Primary Erythromelalgia
Hypothermia ORPHA:90026
Pachydermoperiostosis
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, Abnormal cortic... ORPHA:2796
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Oromandibular Dystonia
Bruxism, Dysphagia, Weight loss ORPHA:93958
Immunodeficiency 12
Osteoporosis OMIM:615468
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Arrhythmia ORPHA:139411
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Bacterial Toxic-Shock Syndrome
Fever, Shock, Fasciitis, Tachycardia, Myocarditis, Capillary leak, Hypotension, Cellulitis ORPHA:36234
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anorexia, Decreased circu... ORPHA:199299
Systemic Mastocytosis With Associated Hematologic Neoplasm
Fever, Tachycardia, Weight loss, Syncope, Hypotension ORPHA:98849
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Immunodeficiency 27A
Anorexia, Weight loss OMIM:209950
Pfapa Syndrome
Weight loss ORPHA:42642
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... OMIM:614008
Classic Pantothenate Kinase-Associated Neurodegeneration
Attention deficit hyperactivity disorder, Dysphagia, Weight loss ORPHA:216866
Imerslund-Gräsbeck Syndrome
Tachycardia, Failure to thrive, Weight loss ORPHA:35858
Acute Intermittent Porphyria
Fever, Restlessness, Tachycardia, Hypertension, Pseudobulbar paralysis ORPHA:79276
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... OMIM:277440
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Moderate postnatal growth retarda... ORPHA:69076
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Osteoporosis OMIM:617190
Renal Hypoplasia
Polydipsia, Small for gestational age ORPHA:93101
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Reduced bone mineral density... ORPHA:94068
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Acute Monoblastic/Monocytic Leukemia
Weight loss, Anorexia, Central hypothyroidism ORPHA:514
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Short stature ORPHA:66518
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Proportionate short stature, Weight loss, Knee flexion contracture, Intraut... ORPHA:3208
Diamond-Blackfan Anemia 7
Osteopenia, Osteoporosis OMIM:612562
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Renpenning Syndrome
Growth delay, Severe short stature, Diabetes mellitus, Cachexia ORPHA:3242
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Osteoporosis, Elevated circulating creatine kinase co... ORPHA:79240
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Holocarboxylase Synthetase Deficiency
Growth delay, Anorexia, Weight loss ORPHA:79242
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density OMIM:620232
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Failure to thrive, Ventricular tachycardia, Congestive heart failure OMIM:605676
Gitelman Syndrome
Salt craving, Maternal diabetes, Parathyroid adenoma, Diabetic ketoacidosis, Type I diabetes mell... ORPHA:358
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... ORPHA:3206
Wolfram Syndrome
Diabetes mellitus, Ataxia, Hypogonadism, Delayed puberty, Male hypogonadism, Polydipsia, Diabetes... ORPHA:3463
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Erdheim-Chester Disease
Ataxia, Hypogonadotropic hypogonadism, Weight loss, Xanthelasma, Polydipsia, Diabetes insipidus ORPHA:35687
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Osteoporosis OMIM:219090
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal hypoplasia, Anorexia, P... ORPHA:95409
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Abnormal cortical bone morphology, Hype... OMIM:614886
Illum Syndrome
Arthrogryposis multiplex congenita, Temperature instability, Bradycardia OMIM:208155
Nephronophthisis 4
Polydipsia OMIM:606966
Secondary Non-Traumatic Avascular Necrosis
Abnormality of connective tissue, Addictive alcohol use, Difficulty walking ORPHA:399180
Functioning Gonadotropic Adenoma
Osteopenia, Osteoporosis ORPHA:91348
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Liposarcoma
Weight loss ORPHA:69078
Oligomeganephronia
Polydipsia, Small for gestational age, Congenital diaphragmatic hernia ORPHA:2260
Perry Syndrome
Inappropriate behavior, Disinhibition, Weight loss OMIM:168605
Aromatase Deficiency
Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Hyperlipidemia ORPHA:91
Glycogen Storage Disease Ia
Hyperlipidemia, Osteoporosis, Hyperuricemia, Gout OMIM:232200
Wolman Disease
Growth delay, Adrenal insufficiency, Adrenal calcification, Cachexia ORPHA:75233
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Osteoporosis, Camptodactyly ORPHA:432
Ppoma
Subcutaneous lipoma, Elevated circulating growth hormone concentration, Anorexia, Abnormality of ... ORPHA:97278
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Nail-Patella Syndrome
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... ORPHA:2614
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia, Recurrent fever OMIM:223900
Riboflavin Deficiency
Hypothermia OMIM:615026
Huntington Disease-Like 1
Restlessness, Weight loss ORPHA:157941
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Cardiomyopathy, Bradycardia, P... OMIM:615745
Vipoma
Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, Elevated circulating growth... ORPHA:97282
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Weight loss ORPHA:71273
Celiac Disease, Susceptibility To, 1
Osteoporosis, Hypocalcemia, Rickets OMIM:212750
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus ORPHA:31825
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive ORPHA:905
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal cal... ORPHA:85138
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Osteoporosis, Elevated circulating creatine kinase co... ORPHA:264580
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Hemoperit... ORPHA:99827
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility ORPHA:363705
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Osteoporosis ORPHA:2326
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Osteoporosis, Hypoalbumi... ORPHA:186
Cholera
Fever, Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Hyperalaninemia, Hypertriglyceridemia, Hyper... ORPHA:470
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Polydipsia, Hyperaldosteronism OMIM:602522
Somatostatinoma
Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hormone concentration, Anorex... ORPHA:97283
Leishmaniasis
Anorexia, Weight loss ORPHA:507
Macs Syndrome
Joint laxity, Osteoporosis, Joint hypermobility OMIM:613075
Fatal Familial Insomnia
Dysphagia, Weight loss OMIM:600072
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Ivory epiphyses of the phalanges of the hand, Irregular tarsal ossification OMIM:226980
Takayasu Arteritis
Anorexia, Weight loss ORPHA:3287
Cap Polyposis
Weight loss ORPHA:160148
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Umbilical hernia, Elevated circulating thyroid-stimulatin... ORPHA:226313
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex OMIM:309583
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Elbow flexion contracture, Knee flexion contracture, Se... ORPHA:371364
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
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
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Paraganglioma, Weight loss ORPHA:94080
Porphyria Variegata
Hypertension, Tachycardia, Scarring ORPHA:79473
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Diabetes mellitus, Addictive alcohol use, Increased circulating procalcitonin concentr... ORPHA:36238
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Nephronophthisis 1
Polydipsia OMIM:256100
Neuroendocrine Tumor Of Stomach
Anorexia, Increased circulating ACTH level, Weight loss, Increased serum serotonin, Paraganglioma... ORPHA:100075
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Helix Syndrome
Polydipsia, Hyperparathyroidism OMIM:617671
Werner Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, Os... OMIM:277900
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Osteosarcoma
Weight loss ORPHA:668
Nephronophthisis 3
Polydipsia OMIM:604387
Familial Thyroid Dyshormonogenesis
Decreased circulating T4 concentration, Umbilical hernia, Elevated circulating thyroid-stimulatin... ORPHA:95716
Beta-Ketothiolase Deficiency
Hypoglycemia, Anorexia, Weight loss, Agitation, Oral aversion, Hyperglycemia ORPHA:134
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:248370
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation OMIM:616801
Cerebrotendinous Xanthomatosis
Abnormal circulating cholesterol concentration, Osteoporosis OMIM:213700
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Inability to walk, Congestive heart failure, Flexion contra... ORPHA:505248
Glycogen Storage Disease Ib
Hyperlipidemia, Osteoporosis, Hyperuricemia, Gout OMIM:232220
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Elbow flexion contractur... ORPHA:1900
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ci... OMIM:241200
1P36 Deletion Syndrome
Camptodactyly of finger, Dilated cardiomyopathy, Polyphagia, Obesity, Telangiectasia, Self-injuri... ORPHA:1606
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Brittle Cornea Syndrome
Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures ORPHA:90354
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss ORPHA:1302
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Melnick-Needles Syndrome
Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges... ORPHA:2484
Lysinuric Protein Intolerance
Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, Osteoporosis, I... OMIM:222700
Aicardi-Goutieres Syndrome 9
Osteoporosis, Hypoalbuminemia OMIM:619487
Silver-Russell Syndrome
Failure to thrive in infancy, Short stature, Cachexia, Precocious puberty, Postnatal growth retar... ORPHA:813
Mucopolysaccharidosis, Type Ivb
Joint laxity, Osteoporosis, Joint stiffness OMIM:253010
Infantile Nephropathic Cystinosis
Polydipsia, Failure to thrive, Abnormality of thyroid physiology ORPHA:411629
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
X-Linked Agammaglobulinemia
Weight loss, Failure to thrive, Short stature, Cellulitis ORPHA:47
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo... ORPHA:249
Grfoma
Subcutaneous lipoma, Elevated circulating growth hormone concentration, Anorexia, Neoplasm of the... ORPHA:97261
Rhabdoid Tumor
Weight loss ORPHA:69077
Nephronophthisis 11
Polydipsia OMIM:613550
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
X Small Rings
Joint laxity, Osteoporosis, Reduced bone mineral density ORPHA:96201
Mucopolysaccharidosis, Type Iva
Joint laxity, Osteoporosis OMIM:253000
Senior-Boichis Syndrome
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:84081
Eosinophilic Gastroenteritis
Dysphagia, Weight loss ORPHA:2070
Dyskeratosis Congenita, Autosomal Recessive 1
Osteoporosis OMIM:224230
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
X-Linked Creatine Transporter Deficiency
Hyperactivity, Short stature, Self-mutilation, Cachexia ORPHA:52503
Marburg Hemorrhagic Fever
Fever, Shock, Tachycardia, Pericarditis, Hypothermia, Anorexia, Aggressive behavior, Hypovolemia,... ORPHA:99826
Nodular Non-Suppurative Panniculitis
Panniculitis, Weight loss ORPHA:33577
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Pathologic fracture, Osteoporosis, Increased susceptibility to fractures OMIM:612199
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis OMIM:300998
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ... OMIM:112240
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Agitation ORPHA:100924
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Hypoglycemia, Cachexia ORPHA:42
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Atypical Werner Syndrome
Failure to thrive, Diabetes mellitus, Lipoatrophy, Short stature, Abnormal circulating leptin con... ORPHA:79474
Poems Syndrome
Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie... ORPHA:2905
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Maternal diabetes, Weight loss ORPHA:103918
Glycerol Kinase Deficiency
Pathologic fracture, Hypertriglyceridemia, Osteoporosis, Hyperglycerolemia OMIM:307030
Stuve-Wiedemann Syndrome 1
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac... OMIM:601559
Dent Disease
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... ORPHA:1652
Dyskeratosis Congenita, Autosomal Dominant 2
Osteoporosis OMIM:613989
Toxic Epidermal Necrolysis
Polydipsia, Weight loss, Dysphagia ORPHA:537
Cardiac Diverticulum
Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart... ORPHA:1686
Cleidocranial Dysplasia
Decreased skull ossification, Osteoporosis, Recurrent fractures ORPHA:1452
Ménétrier Disease
Anorexia, Weight loss ORPHA:2494
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Generalized osteoporosis ORPHA:2959
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Farber Disease
Arthritis, Flexion contracture, Osteoporosis ORPHA:333
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Weight loss, Increased serum serotonin, Carcinoid tumor, Neuroendocrine neoplasm ORPHA:100085
Marchiafava-Bignami Disease
Ataxia, Aggressive behavior, Gait ataxia, Gait disturbance, Addictive alcohol use ORPHA:221074
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Polydipsia, Diabetes mellitus, Hypothyroidism ORPHA:93111
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Hyperactivity, Short stature, Camptodactyly of finger, Cachexia, Aggressive beha... ORPHA:85293
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia ORPHA:1933
Meningococcal Meningitis
Irritability, Hypothermia, Anorexia ORPHA:33475
Dyskeratosis Congenita, Autosomal Dominant 3
Osteoporosis OMIM:613990
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Chronic Beryllium Disease
Weight loss ORPHA:133
Cystinosis, Nephropathic
Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Primary ... OMIM:219800
Occipital Horn Syndrome
Joint laxity, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con... OMIM:304150
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Inguinal hernia, Hypothermia OMIM:614498
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... ORPHA:168558
Premature Aging Syndrome, Penttinen Type
Recurrent fractures, Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Joint ... OMIM:601812
Cronkhite-Canada Syndrome
Cachexia, Anorexia ORPHA:2930
Majeed Syndrome
Failure to thrive, Flexion contracture, Cachexia, Weight loss ORPHA:77297
8P23.1 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Obesity, Weight loss, Growth delay, Attention def... ORPHA:251071
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... ORPHA:289548
Nephroblastoma
Weight loss ORPHA:654
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypothermia, Depression, Attention deficit hyperacti... ORPHA:90674
Glucagonoma
Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hormone concentration, Anorex... ORPHA:97280
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Limb joint contracture, Small for gestational age, Decreased resting energy expenditure, Inabilit... ORPHA:404454
Cantú Syndrome
Osteoporosis ORPHA:1517
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Dominant Beta-Thalassemia
Osteoporosis, Abnormality of iron homeostasis ORPHA:231226
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur... ORPHA:99885
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Proportionate short stature, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hy... ORPHA:71212
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Osteoporosis, Rad... ORPHA:536467
Gm1 Gangliosidosis
Inguinal hernia, Short stature, Camptodactyly of finger, Weight loss, Dysphagia, Oral aversion, F... ORPHA:354
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Obesity, Congenital hypothyroidism,... OMIM:607872
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Schwartz-Jampel Syndrome
Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Elevated circulat... ORPHA:800
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Neuropathy, Congenital Hypomyelinating, 3
Arthrogryposis multiplex congenita, Flexion contracture, Limb joint contracture, Cachexia OMIM:618186
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... ORPHA:90794
Polymyositis
Anorexia, Chondrocalcinosis, Weight loss ORPHA:732
Isolated Osteopoikilosis
Abnormality of the endocrine system, Keloids, Addictive alcohol use ORPHA:166119
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Kaposi Sarcoma
Weight loss ORPHA:33276
Juvenile Nephropathic Cystinosis
Polydipsia, Failure to thrive, Hypothyroidism ORPHA:411634
Polyarteritis Nodosa
Weight loss ORPHA:767
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Rett Syndrome
Short stature, Stereotypical hand wringing, Cachexia, Bruxism OMIM:312750
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Lathosterolosis
Osteoporosis, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Pathologic frac... OMIM:607330
Prolactinoma
Osteopenia, Osteoporosis ORPHA:2965
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Frank-Ter Haar Syndrome
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly OMIM:249420
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ... OMIM:259770
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Anorexia, Weight loss ORPHA:100086
Genetic Transient Congenital Hypothyroidism
Decreased circulating T4 concentration, Umbilical hernia, Elevated circulating thyroid-stimulatin... ORPHA:226316
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypertriglyceridemia, Hyperlipidemia, Osteoporosis, Gout, Increased susceptibility to... ORPHA:79259
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Osteoporosis ORPHA:488632
Eisenmenger Syndrome
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... ORPHA:97214
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Hepatoerythropoietic Porphyria
Osteopenia, Abnormal circulating porphyrin concentration, Osteoporosis, Osteolysis ORPHA:95159
Familial Pancreatic Carcinoma
Diabetes mellitus, Anorexia, Weight loss ORPHA:1333
Congenital Erythropoietic Porphyria
Osteopenia, Abnormal circulating porphyrin concentration, Osteoporosis, Osteolysis, Increased ery... ORPHA:79277
Degcags Syndrome
Fever, Tachycardia, Small for gestational age, Hiatus hernia, Oral-pharyngeal dysphagia, Pulmonic... OMIM:619488
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Contracture of the distal interphalangeal joi... OMIM:617072
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Recurrent fractures, Hyperuricemia, Increased susceptibility t... ORPHA:2769
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Osteoporosis, Osteolytic defects of the phalanges of the hand, Foot acr... OMIM:102500
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Ataxia, Dilated cardiomyopathy, Gait ataxia, Reduced left ventricular ejecti... ORPHA:254892
Glass Syndrome
Generalized osteoporosis, Camptodactyly OMIM:612313
Beta-Thalassemia Major
Osteoporosis, Abnormality of iron homeostasis ORPHA:231214
Acute Promyelocytic Leukemia
Addictive alcohol use, Anorexia, Weight loss ORPHA:520
Yao Syndrome
Weight loss OMIM:617321
Acrodermatitis Enteropathica
Failure to thrive, Short stature, Anorexia, Weight loss ORPHA:37
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Irritability, Attention deficit hyperactivity... ORPHA:96263
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Anorexia, Weight loss ORPHA:370348
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Short stature, Cachexia, Anorexia ORPHA:1969
Distal Renal Tubular Acidosis
Polydipsia, Failure to thrive ORPHA:18
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis OMIM:617877
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Osteop... ORPHA:77293
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Weight loss ORPHA:221098
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia ORPHA:702
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Failure to thrive, Ventricular bigeminy, Left bundle branch block OMIM:610131
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Classic Homocystinuria
Osteoporosis, Recurrent fractures, Joint stiffness ORPHA:394
Gerstmann-Straussler Disease
Aggressive behavior, Weight loss OMIM:137440
Hajdu-Cheney Syndrome
Osteopenia, Recurrent fractures, Osteoporosis, Osteolysis, Joint hyperflexibility, Decreased skul... ORPHA:955
Hereditary Late-Onset Parkinson Disease
Impulsivity, Agitation, Dysphagia, Weight loss ORPHA:411602
Rheumatoid Arthritis
Weight loss OMIM:180300
Osteogenesis Imperfecta, Type Iv
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract... OMIM:166220
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis OMIM:127550
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Ogden Syndrome
Inguinal hernia, Premature atrial contractions, Ventricular tachycardia, Premature ventricular co... OMIM:300855
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o... ORPHA:198
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis ORPHA:2232
Lynch Syndrome
Pituitary adenoma, Flexion contracture, Weight loss, Attention deficit hyperactivity disorder, Ne... ORPHA:144
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia, Dysphagia ORPHA:300605
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Thin bony c... OMIM:613848
Plague
Fever, Tachycardia, Anorexia, Hematemesis, Unsteady gait, Hypotension, Arrhythmia ORPHA:707
Acute Lung Injury
Hypoxemia, Addictive alcohol use ORPHA:178320
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... ORPHA:29072
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... ORPHA:276621
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Familial Colorectal Cancer Type X
Pituitary adenoma, Flexion contracture, Weight loss, Attention deficit hyperactivity disorder, Ne... ORPHA:440437
Felty Syndrome
Weight loss, Cellulitis ORPHA:47612
Xfe Progeroid Syndrome
Severe short stature, Cachexia, Absence of subcutaneous fat, Corneal scarring, Enamel hypoplasia,... OMIM:610965
Congenital Disorder Of Deglycosylation 1
Hyperalaninemia, Osteoporosis, Elevated circulating alpha-fetoprotein concentration OMIM:615273
Leprechaunism
Reduced subcutaneous adipose tissue, Postnatal growth retardation, Insulin resistance, Hyperinsul... ORPHA:508
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Osteoporosis, Joint laxity OMIM:225400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia OMIM:175500
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Agitation, Disinhibition ORPHA:1020
Menkes Disease
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Joint hyperflexibility ORPHA:565
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Arima Syndrome
Polydipsia, Ataxia OMIM:243910
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis... OMIM:271640
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Giant Cell Arteritis
Diabetes insipidus, Anorexia, Weight loss ORPHA:397
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Joint hypermobility, Sagittal craniosynostosis, Generali... ORPHA:536471
Igg4-Related Aortitis
Weight loss ORPHA:449400
Klatskin Tumor
Weight loss ORPHA:99978
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Primary Sclerosing Cholangitis
Osteopenia, Osteoporosis, Hypoalbuminemia ORPHA:171
Gm1-Gangliosidosis, Type Ii
Thin bony cortex, Joint stiffness OMIM:230600
Proximal Renal Tubular Acidosis
Failure to thrive, Polydipsia, Enamel hypomineralization ORPHA:47159
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Generalized lipodystro... ORPHA:79086
19Q13.11 Microdeletion Syndrome
Growth delay, Intrauterine growth retardation, Failure to thrive, Cachexia ORPHA:217346
Loeffler Endocarditis
Weight loss ORPHA:75566
Dyskeratosis Congenita
Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization ORPHA:1775
Osteogenesis Imperfecta
Osteopenia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion contracture... ORPHA:666
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hypopituitarism, Addictive alcohol use, Hypercholesterolemia ORPHA:90065
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
X-Linked Intellectual Disability, Snyder Type
Osteoporosis, Recurrent fractures, Camptodactyly ORPHA:3063
Glycogen Storage Disease Due To Acid Maltase Deficiency
Flexion contracture, Osteoporosis, Elevated circulating creatine kinase concentration ORPHA:365
Lymphoid Interstitial Pneumonia
Failure to thrive, Abnormality of connective tissue, Weight loss ORPHA:79128
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Congenital Enterovirus Infection
Irritability, Hypothermia ORPHA:292
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Recurrent hypoglycemia, Anorexia, Weight loss ORPHA:20
Hypothyroidism Due To Tsh Receptor Mutations
Decreased circulating T4 concentration, Umbilical hernia, Elevated circulating thyroid-stimulatin... ORPHA:90673
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Dysphagia, Cachexia, Weight loss OMIM:603041
Cranioectodermal Dysplasia 1
Joint laxity, Osteoporosis, Hypocalcemia, Sagittal craniosynostosis OMIM:218330
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Drug Reaction With Eosinophilia And Systemic Symptoms
Thyroiditis, Weight loss ORPHA:139402
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Pneumocystosis
Weight loss ORPHA:723
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Oculodentodigital Dysplasia
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger ORPHA:2710
Immunodeficiency 31C
Diabetes mellitus, Short stature, Weight loss, Growth delay, Delayed puberty, Hypothyroidism OMIM:614162
Aromatic L-Amino Acid Decarboxylase Deficiency
Emotional lability, Tongue thrusting, Irritability, Intermittent hypothermia OMIM:608643
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Osteoporosis, Joint hypermobility ORPHA:536545
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Decreased plasma total car... ORPHA:79408
Thymoma
Neoplasm of the thyroid gland, Weight loss ORPHA:99867
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Hypoglycemia, Short stature, Cachexia, Thyroid carcinoma, Lipoma,... ORPHA:109
Rothmund-Thomson Syndrome, Type 2
Osteoporosis OMIM:268400
Cerebrotendinous Xanthomatosis
Osteopenia, Osteoporosis, Increased susceptibility to fractures ORPHA:909
Eosinophilic Granulomatosis With Polyangiitis
Dysphagia, Weight loss ORPHA:183
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Obesity ORPHA:1772
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Limited elbow movement, Osteoporosis, Joint hypermobility ORPHA:558
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, U... OMIM:613658
Alström Syndrome
Hypertriglyceridemia, Dorsocervical fat pad, Ataxia, Decreased response to growth hormone stimula... ORPHA:64
Cockayne Syndrome B
Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the hand OMIM:133540
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Osteoporosis OMIM:203700
Fg Syndrome Type 1
Inguinal hernia, Progressive flexion contractures, Compulsive behaviors, Attention deficit hypera... ORPHA:93932
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Dysphagia, Weight loss ORPHA:1018
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Sarcoidosis
Fever, Abnormal cardiac ventricular function, Scarring, Hypothermia, Portal hypertension, Heart b... ORPHA:797
Budd-Chiari Syndrome
Weight loss ORPHA:131
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Paradoxical increas... ORPHA:96253
Malt Lymphoma
Abnormality of the thyroid gland, Weight loss ORPHA:52417
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Ankle flexion contracture, Flexion contracture, Elbow flexion... ORPHA:2020
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Short stature, Weight loss OMIM:613673
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Abnormal social behavior ORPHA:309263
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Increased serum serotonin, Weight loss ORPHA:100078
Cystic Fibrosis
Osteopenia, Osteoporosis ORPHA:586
Alexander Disease
Hypothermia, Depression, Self-injurious behavior, Dysphagia, Emotional lability ORPHA:58
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Inability to ... OMIM:620066
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Weight loss ORPHA:85450
Primary Intestinal Lymphangiectasia
Growth delay, Weight loss ORPHA:90362
Porphyria Cutanea Tarda
Diabetes mellitus, Addictive alcohol use, Scarring, Corneal scarring ORPHA:101330
Seckel Syndrome
Intrauterine growth retardation, Short stature, Abnormal dental enamel morphology, Cachexia ORPHA:808
Dpagt1-Cdg
Flexion contracture, Osteoporosis, Camptodactyly ORPHA:86309
Al Amyloidosis
Dysphagia, Weight loss ORPHA:85443
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Igg4-Related Retroperitoneal Fibrosis
Hashimoto thyroiditis, Anorexia, Weight loss ORPHA:49041
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... ORPHA:284984
Herpes Simplex Virus Encephalitis
Addictive alcohol use ORPHA:1930
Wolf-Hirschhorn Syndrome
Osteoporosis ORPHA:280
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Abnormal social behavior, Depression ORPHA:309271
Autosomal Recessive Polycystic Kidney Disease
Polydipsia ORPHA:731
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Anorexia, Weight loss ORPHA:79430
Severe Generalized Junctional Epidermolysis Bullosa
Osteoporosis, Abnormal blood ion concentration ORPHA:79404
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Flexion contracture, Mild postnatal growth retardation, Enthesitis ORPHA:85408
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Hypothermia OMIM:618493
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Generalized osteoporosis ORPHA:391487
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness OMIM:277600
Hardikar Syndrome
Osteoporosis, Hyperbilirubinemia OMIM:301068
Legius Syndrome
Hyperactivity, Paroxysmal atrial tachycardia, Multiple lipomas, Pulmonic stenosis, Attention defi... ORPHA:137605
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, ... ORPHA:740
Microsporidiosis
Cachexia, Anorexia, Abnormality of the parathyroid gland, Thyroiditis, Weight loss, Adrenocortica... ORPHA:2552
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Severe generalized osteoporosis, Knee flexion contracture OMIM:210730
Juvenile Dermatomyositis
Dysphagia, Weight loss ORPHA:93672
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Short stature, Postnatal growth retardation, Weight loss, Knee ... ORPHA:576
Caroli Disease
Anorexia, Weight loss ORPHA:53035
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dysphagia, Weight loss OMIM:607459
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine system, Thy... ORPHA:37042
Pancreatoblastoma
Weight loss ORPHA:677
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... ORPHA:177907
Cystic Echinococcosis
Weight loss ORPHA:400
Spondyloocular Syndrome
Osteopenia, Thin bony cortex OMIM:605822
Trisomy 18
Omphalocele, Short stature, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, G... ORPHA:3380
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
African Trypanosomiasis
Akinesia, Aggressive behavior, Abnormality of the endocrine system, Abnormality of renin-angioten... ORPHA:3385
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Cachexia, Primary adrenal insufficiency, Weight loss, Failure to thrive ORPHA:275761
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Hypothermia, Reduced circulating prolactin concentra... ORPHA:226307
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Hypercalcemia, Elevated circulating cre... ORPHA:904
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Primrose Syndrome
Hip contracture, Joint hypermobility, Elevated circulating alpha-fetoprotein concentration, Flexi... OMIM:259050
Pyomyositis
Weight loss ORPHA:764
Polycythemia Vera
Weight loss ORPHA:729
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Lower-limb joint contracture, Osteoporosis ORPHA:459070
Stevens-Johnson Syndrome
Dysphagia, Weight loss ORPHA:36426
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypothermia ORPHA:230
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Osteoporosis, Decreased serum iron ORPHA:438213
Q Fever
Anorexia, Weight loss ORPHA:781
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Nocardiosis
Anorexia, Thyroiditis, Weight loss, Abnormality of the adrenal glands, Cellulitis ORPHA:31204
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Familial Thrombocytosis
Weight loss ORPHA:71493
Loeys-Dietz Syndrome 2
Joint laxity, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contracture of the hand OMIM:610168
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Osteoporosis, Reduced bone mineral density ORPHA:99413
Mosaic Monosomy X
Osteopenia, Osteoporosis, Reduced bone mineral density ORPHA:99228
Monosomy X
Osteopenia, Osteoporosis, Reduced bone mineral density ORPHA:99226
Turner Syndrome
Osteopenia, Osteoporosis, Reduced bone mineral density ORPHA:881
17Q11 Microdeletion Syndrome
Osteopenia, Thickened cortex of long bones, Osteolysis, Osteoporosis ORPHA:97685
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Fasciitis, Hyperactivity, Impulsivity, Hypothermia, Corneal scarring, Atypical scarr... ORPHA:642
Dyskeratosis Congenita, X-Linked
Osteoporosis OMIM:305000
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Multiple lipomas, Hypertension, Congestive heart failure OMIM:181270
46,Xy Partial Gonadal Dysgenesis
Osteoporosis ORPHA:251510
Camurati-Engelmann Disease
Cachexia, Anorexia, Abnormal subcutaneous fat tissue distribution, Hypogonadism, Delayed puberty,... ORPHA:1328
Alveolar Echinococcosis
Abnormal adrenal morphology, Weight loss ORPHA:284
Oculopharyngodistal Myopathy 1
Dysphagia, Weight loss OMIM:164310
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Hypothyroidism, Congenital, Nongoitrous, 2
Decreased circulating T4 concentration, Umbilical hernia, Elevated circulating thyroid-stimulatin... OMIM:218700
Congenital Disorder Of Glycosylation, Type Iiw
Osteoporosis OMIM:619525
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex, Joint stiffness OMIM:608328
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior ORPHA:1675
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
Reactive Arthritis
Weight loss, Enthesitis ORPHA:29207
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Hypercalcemia, Flexion contracture, Osteoporosis, Radioulnar synostosis OMIM:194050
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis ORPHA:3384
Primary Fanconi Renotubular Syndrome
Growth delay, Glycosuria, Hypoglycemia, Weight loss ORPHA:3337
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Emotional labili... ORPHA:353281
Riddle Syndrome
Short stature, Weight loss ORPHA:420741
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Hypothermia, Aggressive behavior ORPHA:17
Adult-Onset Autosomal Dominant Leukodystrophy
Flexion contracture, Hypothermia, Dysphagia ORPHA:99027
Castleman Disease
Weight loss ORPHA:160
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia OMIM:618329
Fanconi Anemia
Short stature, Weight loss, Growth delay, Hypogonadism, Umbilical hernia, Abnormality of the hypo... ORPHA:84
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia OMIM:251880
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Thin bony cortex OMIM:619727
Aicardi-Goutieres Syndrome 7
Intrauterine growth retardation, Hypothyroidism, Weight loss OMIM:615846
Cardiac-Urogenital Syndrome
Tachycardia, Congenital diaphragmatic hernia OMIM:618280
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Diabetes mellitus, Severe short stature, Cachexia, Postnatal... ORPHA:191
Marshall-Smith Syndrome
Omphalocele, Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension, De... OMIM:602535
Niemann-Pick Disease Type C
Narcolepsy ORPHA:646
Juvenile Polyposis Of Infancy
Cachexia, Short stature, Subcutaneous lipoma ORPHA:79076
Multiple Myeloma
Weight loss ORPHA:29073
Granulomatosis With Polyangiitis
Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Weight loss ORPHA:900
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia, Congenital diaphragmatic... OMIM:309801
Singleton-Merten Syndrome 1
Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand OMIM:182250
Brucellosis
Failure to thrive, Small for gestational age, Anorexia, Weight loss ORPHA:1304
Rat-Bite Fever
Weight loss ORPHA:31205
Postinfectious Vasculitis
Anorexia, Weight loss ORPHA:48435
Dermatomyositis
Weight loss, Chondrocalcinosis, Cellulitis ORPHA:221
Nijmegen Breakage Syndrome
Attention deficit hyperactivity disorder, Short stature, Cachexia ORPHA:647
Igg4-Related Dacryoadenitis And Sialadenitis
Nodular goiter, Thyroiditis, Weight loss ORPHA:79078
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Weight loss, Dysphagia ORPHA:99921
Behçet Disease
Anorexia, Weight loss ORPHA:117
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia, Dysphagia ORPHA:255210
Aspartylglucosaminuria
Arthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:93
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Corneal scarring... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Corneal scarring... ORPHA:353277
Sarcoidosis, Susceptibility To, 1
Anorexia, Weight loss OMIM:181000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Mend Syndrome
Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Norrie Disease
Diabetes mellitus, Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, D... ORPHA:649
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Growth delay, Abnormal temper tantrums, Cachexia, Delayed puberty ORPHA:2072
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia ORPHA:79282
Kikuchi-Fujimoto Disease
Anorexia, Weight loss ORPHA:50918
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... ORPHA:99125
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363958
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Pmm2-Cdg
Osteopenia, Joint laxity, Multiple joint contractures, Reduced thyroxin-binding globulin, Osteopo... ORPHA:79318
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Anorexia, Weight loss ORPHA:91500
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Thyroiditis, Weight loss ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Weight loss OMIM:619381
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Aggressive behavior ORPHA:314647
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Cachexia, Neoplasm of the thymus, Abnormal... ORPHA:744
Stickler Syndrome
Short stature, Slender build, Abnormal dental enamel morphology, Cachexia ORPHA:828
Goodpasture Syndrome
Weight loss OMIM:233450

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 Mchr1

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 Mchr1.

No publications found that use IMPC mice or data for Mchr1.

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
Mchr1em2(IMPC)H Indel Mice
Mchr1em1(IMPC)H Indel Mice
Mchr1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mchr1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mchr1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mchr1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter