Short Stature Due To Ghsr Deficiency |
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Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... |
ORPHA:314811 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... |
ORPHA:293964 |
Short Stature Due To Partial Ghr Deficiency |
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Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Short stature, Growt... |
ORPHA:314802 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
Pituitary Hormone Deficiency, Combined, 4 |
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Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... |
OMIM:262700 |
Isolated Growth Hormone Deficiency, Type Ia |
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Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula... |
OMIM:262400 |
Insulin Autoimmune Syndrome |
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Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Maturity-onset diabetes of the young, Large for gestational age, Excessive insulin response to gl... |
ORPHA:324575 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Obesity, Hyperinsulinemia, Aggressive behavior, Polyphagia, Short stature |
ORPHA:329249 |
Leptin Deficiency Or Dysfunction |
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Hypogonadism, Polyphagia, Obesity, Decreased serum leptin |
OMIM:614962 |
Body Mass Index Quantitative Trait Locus 19 |
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Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Polyphagia |
OMIM:617885 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Trichotillomania |
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Compulsive behaviors, Hair-pulling |
OMIM:613229 |
Homozygous 11P15-P14 Deletion Syndrome |
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Hyperinsulinemia, Failure to thrive, Hypoglycemia |
OMIM:606528 |
Glycogen Storage Disease Vi |
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Failure to thrive in infancy, Postnatal growth retardation, Hypoglycemia |
OMIM:232700 |
Hyperinsulinism Due To Insr Deficiency |
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Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... |
ORPHA:263458 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypoglycemic seizures, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycem... |
OMIM:620211 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
Pituitary Hormone Deficiency, Combined, 2 |
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Abnormal circulating adrenocorticotropin concentration, Hypoglycemic seizures, Hypogonadism, Panh... |
OMIM:262600 |
Lipe-Related Familial Partial Lipodystrophy |
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Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli... |
ORPHA:435660 |
Akt2-Related Familial Partial Lipodystrophy |
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Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Failure to thrive, ... |
OMIM:617872 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... |
OMIM:614736 |
Proprotein Convertase 1/3 Deficiency |
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Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... |
OMIM:600955 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
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Failure to thrive in infancy, Hypoglycemia |
ORPHA:6 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Postnatal growth retardation, ... |
ORPHA:73272 |
Pituitary Hormone Deficiency, Combined, 6 |
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Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... |
OMIM:613986 |
Insulin-Resistance Syndrome Type B |
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Postprandial hyperglycemia, Insulin resistance, Abnormal circulating leptin concentration, Insuli... |
ORPHA:2298 |
Mody |
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Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... |
ORPHA:552 |
Cidec-Related Familial Partial Lipodystrophy |
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Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... |
ORPHA:435651 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Postnatal growt... |
ORPHA:453533 |
Pituitary Stalk Interruption Syndrome |
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Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad... |
ORPHA:95496 |
Lipodystrophy, Familial Partial, Type 5 |
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Decreased adiponectin level, Lipodystrophy, Decreased serum leptin, Diabetic ketoacidosis |
OMIM:615238 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Anorexia, Allodynia |
ORPHA:51890 |
Polyendocrine-Polyneuropathy Syndrome |
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Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Hyp... |
OMIM:616113 |
Rett Syndrome |
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Growth delay, Failure to thrive, Increased serum leptin, Bruxism, Stereotypical hand wringing, Mo... |
ORPHA:778 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa... |
ORPHA:280365 |
Complex Regional Pain Syndrome |
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Allodynia |
ORPHA:83452 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy |
OMIM:616393 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Glycosuria, Hypoglycemia, Large for gestational age, Short stature, Diabetes mellitus |
OMIM:616026 |
Trigeminal Neuralgia |
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Allodynia |
ORPHA:221091 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polyphagia, Lipodystroph... |
OMIM:608594 |
Pudendal Neuralgia |
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Allodynia |
ORPHA:60039 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Umbilical hernia, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose tissu... |
OMIM:269700 |
Keppen-Lubinsky Syndrome |
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Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... |
OMIM:614098 |
Neurotrophic Keratopathy |
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Allodynia |
ORPHA:137596 |
Nestor-Guillermo Progeria Syndrome |
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Failure to thrive, Decreased serum leptin, Short stature, Flexion contracture, Growth delay, Lipo... |
OMIM:614008 |
Spinal Cord Injury |
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Allodynia |
ORPHA:90058 |
Atypical Werner Syndrome |
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Chondrocalcinosis, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem... |
ORPHA:79474 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Motor stereotypy, Dysphagia, Hyperactivity, Hair-pulling |
ORPHA:447997 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Dysphagia, Allodynia |
OMIM:603041 |
Benign Schwannoma |
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Allodynia |
ORPHA:252164 |
Choreoacanthocytosis |
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Self-injurious behavior, Phonic tics, Head-banging, Bruxism, Hair-pulling, Aggressive behavior, S... |
ORPHA:2388 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Self-injurious behavior, Fixated interests, Hair-pulling, Polyphagia, Attention deficit hyperacti... |
OMIM:620330 |
Cornelia De Lange Syndrome 6 |
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Compulsive behaviors, Hair-pulling |
OMIM:620568 |
Monosomy 22Q13.3 |
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Bruxism, Hyperactivity, Hair-pulling |
ORPHA:48652 |
Hutchinson-Gilford Progeria Syndrome |
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Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Severe failure to thrive, Weig... |
ORPHA:740 |