Pancreas, Dorsal, Agenesis Of |
|
Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology |
OMIM:609812 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... |
OMIM:262190 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Leptin Deficiency Or Dysfunction |
|
Micropenis, Primary amenorrhea, Decreased serum leptin, Abnormal eating behavior, Polyphagia, Dec... |
OMIM:614962 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... |
ORPHA:168782 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... |
OMIM:619095 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Intrauterine growth retardation, Severe failure to thrive, ... |
OMIM:601410 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, H... |
ORPHA:453533 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased seru... |
ORPHA:314811 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyr... |
OMIM:616113 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... |
OMIM:274300 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... |
ORPHA:552 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Polycystic ovaries, Diabetes mellitus, Insulin resi... |
ORPHA:79084 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Growth delay, Abnormal circulating insulin concentration, Short stature, Decreased circulating fr... |
ORPHA:171706 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Hyperactivity, Increased circulating... |
OMIM:275000 |
Bangstad Syndrome |
|
Progressive cerebellar ataxia, Severe short stature, Small for gestational age, Insulin-resistant... |
OMIM:210740 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Mahvash Disease |
|
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... |
OMIM:619290 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Immotile sperm, Male infertility, Abnormal sperm morphology |
OMIM:608653 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance, Primary amenorrhea, Maternal dia... |
OMIM:604367 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Memory impairment, Falls, Motor deteriorat... |
ORPHA:412066 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... |
OMIM:617959 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Periventricular nodular heterotopia, Primary amenorrhea, Obesity,... |
OMIM:619737 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Ovari... |
OMIM:246200 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Wolfram-Like Syndrome |
|
Glucose intolerance, Progressive cerebellar ataxia, Depression, Severe postnatal growth retardati... |
ORPHA:411590 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Short stature, Truncal obesity... |
ORPHA:181393 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Small for gestational age, Glycosuria, Athetosis, Delayed social development, Type I diabetes mel... |
OMIM:618857 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovaries, Increa... |
ORPHA:2298 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility |
OMIM:619696 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... |
ORPHA:276580 |
Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... |
ORPHA:100083 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... |
ORPHA:324575 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
X-Linked Intellectual Disability, Van Esch Type |
|
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptor... |
ORPHA:163976 |
Short Stature Due To Partial Ghr Deficiency |
|
Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased serum insulin-like growth f... |
ORPHA:314802 |
Huntington Disease-Like 2 |
|
Apathy, Bradykinesia, Depression, Anxiety, Chorea, Weight loss, Irritability, Dementia |
OMIM:606438 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking, Attention defic... |
OMIM:619191 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Increased circulating free T3, Attention deficit hyperactivity disorder, Impaired sensiti... |
OMIM:188570 |
Mehmo Syndrome |
|
Inability to walk, Decreased response to growth hormone stimulation test, Micropenis, Small for g... |
OMIM:300148 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Uterine neoplasm, Hypoinsulinemia, Prostate cancer, Recurrent hypoglycemia, Hypoglycemia, Weight ... |
ORPHA:2126 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... |
ORPHA:276575 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Unsteady gait, Hyperglycemia |
OMIM:520000 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... |
OMIM:262700 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... |
ORPHA:457059 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Secon... |
ORPHA:3085 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Short stature, No social interaction, Polyphagia, Obesity, Impaired social inte... |
ORPHA:329249 |
Huntington Disease |
|
Gait imbalance, Inability to walk, Mental deterioration, Chorea, Difficulty walking, Weight loss,... |
ORPHA:399 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Irregular menstruation, Truncal obesity, Polyphagia, Obesity, Hyperglycemia |
OMIM:615986 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Depression, Mental deterioration, Cachexia, Anxiety, Chorea, Gait ataxia, Dysp... |
OMIM:618093 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Infertility, Ataxia, Reduced sperm motility, Truncal ataxia, Difficulty walking... |
ORPHA:320391 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Severe short stature, Hypoglycemia, Reduced circulating growth hormone concentration, Growth dela... |
OMIM:262400 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Depression,... |
ORPHA:248111 |
Bangstad Syndrome |
|
Ataxia, Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the... |
ORPHA:1227 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Intrauterine growth retar... |
OMIM:606176 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Failure to thrive, Ataxia, Abnormality of the thyroid gland, Hyperactivity, S... |
ORPHA:209905 |
Maffucci Syndrome |
|
Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Short stature, Neoplasm of the adrenal ... |
ORPHA:163634 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Cryptorchidism, Hyperglycemia |
OMIM:175700 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Hypogonadism, Obesity, Abnormal... |
ORPHA:791 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Hypoplasia of penis, Short stature, Abnormality of the hypothalamus-pituitary ... |
ORPHA:95496 |
Thyroid Dyshormonogenesis 3 |
|
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274700 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age |
OMIM:618858 |
Erythrokeratodermia Variabilis |
|
Weight loss, Short stature, Abnormal testis morphology, Diabetes mellitus |
ORPHA:317 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Infertility |
OMIM:617961 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Ataxia, Hyperglycemia |
OMIM:618970 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:617175 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... |
ORPHA:280356 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Growth delay, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Growth delay, Goiter |
OMIM:274800 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Polydipsia, Precocious puberty, I... |
ORPHA:769 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
Post-Traumatic Pituitary Deficiency |
|
Amenorrhea, Infertility, Growth delay, Abnormal prolactin level, Decreased response to growth hor... |
ORPHA:95619 |
Estrogen Resistance |
|
Glucose intolerance, Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea, Impaired glu... |
OMIM:615363 |
Anaplastic Thyroid Carcinoma |
|
Anaplastic thyroid carcinoma, Dysphagia, Weight loss, Nodular goiter, Goiter |
ORPHA:142 |
Permanent Congenital Hypothyroidism |
|
Thyroid dysgenesis, Goiter, Hypothyroidism, Short stature |
ORPHA:226292 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Failure to thrive, Ataxia, Hyperglycemia |
OMIM:220111 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder, Obesity |
ORPHA:369873 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Type II diabetes mellitus, Depression, Anxiety, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Endocardial Fibroelastosis |
|
Hypoglycemia, Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism |
ORPHA:2022 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Primary adrenal insufficiency, Failure to thrive, Hypogonadism |
OMIM:617872 |
Medullary Thyroid Carcinoma |
|
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Dysphagia, Elevated c... |
ORPHA:1332 |
Moynahan Syndrome |
|
Cachexia, Short stature, Hypogonadism |
ORPHA:2574 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Thyroid Cancer, Nonmedullary, 1 |
|
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma |
OMIM:188550 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Decreased body weight, Abnormal external genitalia, Small for gestational age, Short stature, Hyp... |
ORPHA:231140 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Activating thyroid-stimulating hormone... |
ORPHA:424 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Polydipsia, Graves disease, Hyperactivity, Increased circulating free T3, Incr... |
ORPHA:525731 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Polyphagia, Obesity |
ORPHA:71529 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Polyphagia, Insulin resistance, Obesity |
OMIM:617885 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoket... |
ORPHA:276556 |
Congenital Hypothyroidism |
|
Abnormality of the thyroid gland, Short stature, Thyroid dysgenesis, Anterior hypopituitarism, Hy... |
ORPHA:442 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus, Hyperglycemia |
OMIM:609069 |
Short Syndrome |
|
Glucose intolerance, Small for gestational age, Birth length less than 3rd percentile, Insulin-re... |
OMIM:269880 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter |
ORPHA:319487 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Intrauterine growth retardation, External genital hypoplasia, Small for gestational... |
ORPHA:231147 |
Diencephalic Syndrome |
|
Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight, Long penis |
ORPHA:1672 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Infertility, Goiter |
OMIM:617577 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, ... |
ORPHA:79085 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyroid hyperplasia, Goiter |
OMIM:609152 |
Tsh-Secreting Pituitary Adenoma |
|
Impotence, Central adrenal insufficiency, Decreased fertility in males, Increased circulating pro... |
ORPHA:91347 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Dysmenorrhea, Bifid scrotum, Small for gestational age, Hypospadias, Hypothyroidism, Hypoglycemia... |
ORPHA:397590 |
Pendred Syndrome |
|
Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274600 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Goiter, Weight loss, Hyperthyroidism |
OMIM:613239 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Weight lo... |
ORPHA:99819 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Cryptorchidism |
OMIM:614736 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, H... |
ORPHA:79237 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Severe intrauterine growth retardation, Hyperactivity, Small for gestational a... |
ORPHA:73272 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Failure to thrive, Growth delay, Hypogonadism |
ORPHA:163693 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Short stature, Panhypopituita... |
OMIM:262600 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Weight loss, Hyperthyroidism |
OMIM:188580 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... |
ORPHA:226313 |
Glutaric Aciduria Iii |
|
Failure to thrive, Goiter, Hyperthyroidism |
OMIM:231690 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Multinodular goiter, Thyroid nodule, Goiter |
OMIM:180295 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Short stature, Primary amenorrhea, Delayed puberty, Delayed thelar... |
OMIM:616033 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Goiter, Papillary thyroid carcinoma |
ORPHA:97290 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Lead Poisoning |
|
Infertility, Decreased male libido, Small for gestational age, Reduced sperm motility, Oligosperm... |
ORPHA:330015 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Hypoglycemia, Dysphagia, Cryptorchidism, Intrauterine growth retardation |
OMIM:618958 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Non-medullary thyroid carcinoma |
OMIM:616534 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter |
OMIM:225040 |
Carcinoma Of Esophagus |
|
Dysphagia, Obesity, Weight loss |
ORPHA:70482 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... |
ORPHA:562 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Short stature, Shuffling... |
ORPHA:3077 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Classic Galactosemia |
|
Gait imbalance, Ataxia, Primary amenorrhea, Oligomenorrhea, Decreased fertility in females, Gait ... |
ORPHA:79239 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, ... |
ORPHA:435660 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Short stature, Hypoglycemia, Adrenocortical hyp... |
OMIM:307030 |
Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... |
ORPHA:90794 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Thyrocerebroretinal Syndrome |
|
Goiter, Ataxia |
OMIM:274240 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Growth delay, Goiter |
OMIM:274400 |
Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Severe intrauterine growth retardation, Hyperinsul... |
ORPHA:508 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Hyperinsulinemia |
OMIM:618406 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Short stature, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Thyrocerebrorenal Syndrome |
|
Nonprogressive cerebellar ataxia, Euthyroid goiter |
ORPHA:3327 |
Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Dysphagia, Goiter |
ORPHA:97285 |
Cowden Syndrome 6 |
|
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Varicocele, Goiter, Thyroid aden... |
OMIM:615109 |
Idiopathic Achalasia |
|
Dysphagia, Weight loss |
ORPHA:930 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Hypogonadism, Dysphagia, Diabetes insipidus |
ORPHA:97229 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Cowden Syndrome 5 |
|
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Goiter, Thyroid adenoma, Thyroid... |
OMIM:615108 |
Cidec-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... |
ORPHA:435651 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Myxedema |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Goiter |
OMIM:255900 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Insulin resistanc... |
ORPHA:528 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ataxia, Glycosuria, Neonatal insulin-dependent diabetes mellitus, Pancreatic h... |
ORPHA:99885 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Short stature, Hypogonadotropic hypogonadism, Hypoglycemia, Intrauterine growt... |
ORPHA:48431 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... |
ORPHA:556037 |
Hemochromatosis, Type 4 |
|
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... |
OMIM:606069 |
Perry Syndrome |
|
Apathy, Akinesia, Bradykinesia, Depression, Anxiety, Inappropriate behavior, Suicidal ideation, D... |
OMIM:168605 |
Young-Onset Parkinson Disease |
|
Apathy, Impulsivity, Constipation, Cognitive impairment, Depression, Anxiety, Panic attack, Diarr... |
ORPHA:2828 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Growth delay, Hypergl... |
OMIM:608612 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Glycosuria, Impaired glucose tolerance, Diabetes m... |
ORPHA:2088 |
Silver-Russell Syndrome |
|
Abnormal vagina morphology, Precocious puberty, Postnatal growth retardation, Short stature, Abno... |
ORPHA:813 |
Atypical Werner Syndrome |
|
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Ovarian neoplasm, Decreased body ... |
ORPHA:79474 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... |
ORPHA:556030 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Pendred Syndrome |
|
Ataxia, Thyroid carcinoma, Hypothyroidism, Hyperparathyroidism, Goiter |
ORPHA:705 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Increased circulating 18-hydroxycorti... |
OMIM:610600 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... |
OMIM:608189 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hypoplasia of penis |
ORPHA:2849 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Short stature, Hypergona... |
OMIM:203800 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Renpenning Syndrome |
|
Severe short stature, Cachexia, Hypospadias, Decreased testicular size, Diabetes mellitus, Growth... |
ORPHA:3242 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Oral aversion, Hypoglycemia, Weight loss, Hyperglycemia |
ORPHA:134 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Cowden Syndrome 1 |
|
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Varicocele, Goiter, Ovarian carc... |
OMIM:158350 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Labial pseudohy... |
OMIM:151660 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... |
OMIM:614963 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Addison Disease |
|
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Failure to thrive, Decrease... |
ORPHA:85138 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development,... |
ORPHA:785 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Impotence, Intestinal ... |
ORPHA:652 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... |
ORPHA:64744 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Failure to thrive, Growth delay, Severe short stature, Thyroid dysgenesis, Ectopic thyroid, Hypot... |
ORPHA:3047 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189427 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... |
OMIM:167800 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Growth delay, Decreased circulating T4 concentration... |
ORPHA:226307 |
Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Goiter, Hashimoto thyroiditis |
ORPHA:83601 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss, Diabetes mellitus |
ORPHA:90003 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... |
ORPHA:263455 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Adrenocorticotropic hormone deficiency, Polydipsia, Decreased response to growth hormone stimulat... |
ORPHA:293987 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Irregular menstruation, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus |
ORPHA:676 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Hypopituitarism, Hyperglycemia |
ORPHA:90065 |
Pallister-Hall Syndrome |
|
Precocious puberty, Distal urethral duplication, Decreased response to growth hormone stimulation... |
OMIM:146510 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss, Polydipsia, Diabetes insipidus |
ORPHA:30925 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Failure to thrive, Ataxia, Glucose intolerance, Hyperthyroidism, Hypothyroidism, Gait disturbance... |
ORPHA:254892 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189439 |
Laron Syndrome |
|
Abnormality of the endocrine system, Severe short stature, Hypoplasia of penis, Truncal obesity, ... |
ORPHA:633 |
Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Postprandial hyperglycemia |
ORPHA:681 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Growth delay, Decreased circulating T4 concentration, Reduced circulating prolactin concentration... |
ORPHA:99832 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Poems Syndrome |
|
Abnormality of the endocrine system, Increased circulating prolactin concentration, Primary adren... |
ORPHA:2905 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... |
ORPHA:199299 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Ataxia, Micropenis, Hypothyroidism, Hypoglycemia, Hypogonadism, Cryptorchi... |
OMIM:617575 |
Flynn-Aird Syndrome |
|
Ataxia, Abnormality of the thyroid gland, Type II diabetes mellitus, Cachexia, Primary adrenal in... |
ORPHA:2047 |
Woodhouse-Sakati Syndrome |
|
Growth delay, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to... |
ORPHA:3464 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Short... |
ORPHA:309246 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... |
ORPHA:90790 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Intrauter... |
OMIM:176270 |
Mcdonough Syndrome |
|
Cachexia, Cryptorchidism, Short stature |
ORPHA:2471 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age |
ORPHA:391673 |
Chronic Hiccup |
|
Weight loss, Abnormal eating behavior |
ORPHA:396 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Semantic dementia, Abnormal social behavior, Memory impairment, Disinhibition, Dementia |
ORPHA:1020 |
Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:226316 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... |
ORPHA:103918 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficien... |
OMIM:260370 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spondylometaphyseal Dysplasia, Axial |
|
Disproportionate short-trunk short stature, Rhizomelia, Short stature, Reduced sperm motility |
OMIM:602271 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary amenorrhea, Reactive... |
OMIM:600955 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Dysphagia, Weight loss |
ORPHA:298 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... |
ORPHA:90793 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Anxiety, Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Growth delay, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, ... |
OMIM:248370 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Glucose intolerance, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Di... |
OMIM:235200 |
Dopa-Responsive Dystonia |
|
Agoraphobia, Constipation, Abnormal social behavior, Depression, Anxiety, Panic attack, Vomiting,... |
ORPHA:255 |
Carney Complex |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
Tenorio Syndrome |
|
Gait disturbance, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior |
ORPHA:101039 |
Oculopharyngodistal Myopathy |
|
Loss of ambulation, Impaired oropharyngeal swallow response, Difficulty walking, Weight loss, Ora... |
ORPHA:98897 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... |
ORPHA:786 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Premature thelarche, Polycystic ovaries, Type I diabetes mellitus |
ORPHA:371428 |
Bullous Pemphigoid |
|
Weight loss, Diabetes mellitus |
ORPHA:703 |
Cowden Syndrome |
|
Failure to thrive, Ataxia, Abnormality of the thyroid gland, Short stature, Abnormal penis morpho... |
ORPHA:201 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Ataxia, Poor eye contact, Tip-toe gait, Hypoglycemia, Growth delay, Hyperglycemia |
ORPHA:3008 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss, Ataxia |
OMIM:613662 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Polydipsia, Diabetes insipidus |
ORPHA:178029 |
Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature |
OMIM:619489 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Gait ataxia, Cachexia |
OMIM:612075 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Graves disease, Hyperthyroidism, Thyrotoxicosis with toxic single thy... |
ORPHA:79102 |
Hirschsprung Disease |
|
Weight loss, Short stature, Failure to thrive in infancy, Neoplasm of the thyroid gland |
ORPHA:388 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia, Growth delay |
OMIM:225250 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
Bachmann-Bupp Syndrome |
|
Large for gestational age, Hypoglycemia, Focal polymicrogyria, Attention deficit hyperactivity di... |
OMIM:619075 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hyperinsulinemia, Hyperactivity, Gait ataxia, Insulin resistance |
ORPHA:363400 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Decreased serum leptin, Decreased fertility in females, Insulin-resistant diabe... |
OMIM:608594 |
Non-Acquired Panhypopituitarism |
|
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Growth delay, Abnormal prolactin level... |
ORPHA:90695 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... |
ORPHA:95409 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Infertility, Ataxia, Short stature, Type I diabetes mellitus, Delayed puberty,... |
OMIM:212750 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Dysphagia, Weight loss |
ORPHA:2198 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased serum leptin, Decreased fertility in femal... |
OMIM:269700 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Short stature, Immotil... |
OMIM:612650 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss, Type I diabetes mellitus |
ORPHA:1979 |
Attrv30M Amyloidosis |
|
Weight loss, Impotence |
ORPHA:85447 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Dysmenorrhea, Insulin resistance, Decreased serum leptin, Secondary amenorrhea, Diabetes mellitus... |
ORPHA:280365 |
Mirage Syndrome |
|
Adrenal insufficiency, Decreased body weight, Short stature, Hypergonadotropic hypogonadism, Hypo... |
OMIM:617053 |
Multiple Endocrine Neoplasia, Type Iib |
|
Medullary thyroid carcinoma, Pheochromocytoma, Elevated calcitonin, Nodular goiter, Parathyroid h... |
OMIM:162300 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... |
ORPHA:913 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism, Weight loss, Abnormal testis morphology, Primary te... |
ORPHA:85450 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Hyperactivity, Hypoplasia of penis, Short stature, Cachexia, Decreased testicul... |
ORPHA:85293 |
Reticular Dysgenesis |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss |
ORPHA:33355 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Short stature, Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Cent... |
OMIM:301035 |
Sheehan Syndrome |
|
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Cent... |
ORPHA:91355 |
Galactose Epimerase Deficiency |
|
Growth delay, Weight loss |
ORPHA:79238 |
Hodgkin Lymphoma |
|
Weight loss, Ataxia |
ORPHA:98293 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Cachexia, Testicular neoplasm, Weight loss |
ORPHA:83469 |
Mpi-Cdg |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis, Portal hypertension |
ORPHA:79319 |
Whipple Disease |
|
Polydipsia, Ataxia, Cachexia, Hypothyroidism, Erectile dysfunction, Insulin resistance |
ORPHA:3452 |
Mulibrey Nanism |
|
Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Short stature, Reduced... |
OMIM:612649 |
Aredyld Syndrome |
|
Type II diabetes mellitus, Short stature, Cachexia, Type I diabetes mellitus, Intrauterine growth... |
ORPHA:1133 |
Renal Cysts And Diabetes Syndrome |
|
Glucose intolerance, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced s... |
OMIM:137920 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Polycystic ovaries, Acute pancreatitis, Insulin-resist... |
ORPHA:79086 |
Vipoma |
|
Elevated calcitonin, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid glan... |
ORPHA:97282 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Ovarian neoplasm |
ORPHA:2221 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature, Hypospadias, Hypothyroidism... |
ORPHA:444077 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaired sensitivity... |
ORPHA:90673 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
Rett Syndrome |
|
Failure to thrive, Inability to walk, Increased serum leptin, Gait disturbance, Difficulty walking |
ORPHA:778 |
8P23.1 Microdeletion Syndrome |
|
Growth delay, Short stature, Hypospadias, Weight loss, Attention deficit hyperactivity disorder, ... |
ORPHA:251071 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Supernumerary nipple, Bifid scrotum, Hypospadias, Cachexia, Growth delay, Cryp... |
ORPHA:217346 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Growth delay, Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating th... |
OMIM:218700 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating reni... |
ORPHA:171876 |
Multiple Endocrine Neoplasia, Type Iia |
|
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Pheochrom... |
OMIM:171400 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Tip-toe gait, Gait disturbance, Attention deficit hyperactivity disorder, Dysp... |
ORPHA:216866 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss, Abnormal testis morphology |
ORPHA:54251 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Severe postnatal growth retardation, Short stature |
ORPHA:440713 |
Metachromatic Leukodystrophy, Adult Form |
|
Progressive psychomotor deterioration, Abnormal social behavior, Depression, Memory impairment, E... |
ORPHA:309271 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pituitary adenoma, Uterine neoplasm, Gait disturbance, Attention defici... |
ORPHA:440437 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pituitary adenoma, Ovarian neoplasm, Gait disturbance, Attention defici... |
ORPHA:144 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... |
OMIM:275200 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Short stature, Ectopic thyroid, Hypothyroidism, Growth delay |
ORPHA:95712 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Somatostatinoma |
|
Neoplasm of the pancreas, Medullary thyroid carcinoma, Abnormality of the thyroid gland, Pituitar... |
ORPHA:97283 |
Christianson Syndrome |
|
Dysphagia, Cachexia, Gait ataxia, Truncal ataxia |
ORPHA:85278 |
Parathyroid Carcinoma |
|
Abnormality of the parathyroid morphology, Polydipsia, Thyroid carcinoma, Parathyroid carcinoma, ... |
ORPHA:143 |
Peritoneal Cystic Mesothelioma |
|
Weight loss, Menorrhagia, Dyspareunia, Metrorrhagia |
ORPHA:168816 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Weight loss, Ovarian carcinoma, Diabetes mellitus |
ORPHA:1333 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Precocious puberty, Uterine neoplasm, Ovarian neoplasm, Metrorrhagia, W... |
ORPHA:370348 |
Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... |
ORPHA:95613 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Failure to thrive, Glycosuria, Pancreatic hypoplasia, Absent gallbladder, Diabetes mellitus, Intr... |
OMIM:600001 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Short Syndrome |
|
Insulin resistance, Weight loss, Severe short stature, Diabetes mellitus |
ORPHA:3163 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Short stature |
ORPHA:1144 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Gm1 Gangliosidosis |
|
Failure to thrive, Ataxia, Oral aversion, Short stature, Gait disturbance, Unsteady gait, Dysphag... |
ORPHA:354 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Multinodular goiter |
ORPHA:276399 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Dysmenorrhea, Short stature, Oligomenorrhea, Irregular menstruat... |
ORPHA:264580 |
Hsd10 Disease |
|
Dysphagia, Abnormal social behavior |
ORPHA:391417 |
Pleural Mesothelioma |
|
Dysphagia, Weight loss |
ORPHA:50251 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Primary hypothyroidism, Growth delay, Weight loss, Central hypothy... |
ORPHA:95427 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Thyroid Hypoplasia |
|
Hypothyroidism, Growth delay, Thyroid hypoplasia, Short stature |
ORPHA:95720 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Failure to thrive, Decreased serum testosterone concentration, Decreased circulating androgen con... |
ORPHA:90796 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Ataxia, Hypothyroidism, Diabetes mellitus, Dysphagia, Growth delay, Diabetes ... |
OMIM:222300 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Secondary amenorrhe... |
ORPHA:99889 |
Pten Hamartoma Tumor Syndrome |
|
Multinodular goiter, Endometrial carcinoma, Thyroid carcinoma, Thyroid adenoma |
ORPHA:306498 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Elevated circulating growth hormone concentration, Increased circulati... |
ORPHA:97287 |
Huntington Disease-Like 1 |
|
Gait disturbance, Weight loss, Gait ataxia, Dysmetria |
ORPHA:157941 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Thymoma |
|
Weight loss, Prostate neoplasm, Neoplasm of the thyroid gland |
ORPHA:99867 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Cachexia, Ataxia |
ORPHA:42 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Elevated circ... |
ORPHA:95699 |
Acquired Central Diabetes Insipidus |
|
Weight loss, Polydipsia, Diabetes insipidus |
ORPHA:95626 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Wilson Disease |
|
Failure to thrive, Abnormality of the menstrual cycle, Difficulty walking, Increased body weight,... |
ORPHA:905 |
Isolated Succinate-Coq Reductase Deficiency |
|
Loss of ambulation, Ataxia, Severe short stature, Proportionate short stature, Weight loss, Intra... |
ORPHA:3208 |
Cushing Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... |
ORPHA:96253 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydrocele testis, Impotence, Varicocele, Retrograde ejaculation, Hashimoto thyroiditis, Weight loss |
ORPHA:49041 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... |
ORPHA:71212 |
Cystinosis, Nephropathic |
|
Polydipsia, Short stature, Glycosuria, Failure to thrive in infancy, Dysphagia, Male infertility,... |
OMIM:219800 |
Carney Complex, Type 1 |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Pheochro... |
OMIM:160980 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Scorpion Envenomation |
|
Ataxia, Glycosuria, Priapism, Hyperglycemia |
ORPHA:466677 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Uterine neoplasm, Thyroid carcinoma, Short stature, Cachexia, Neoplasm of the adrenal cortex, Hyp... |
ORPHA:109 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Growth delay, Abnormal prolactin level... |
ORPHA:95494 |
Thymic Carcinoma |
|
Weight loss, Neoplasm of the thymus |
ORPHA:99868 |
Glucagonoma |
|
Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulati... |
ORPHA:97280 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormal social behavior, Progressive psychomotor deterioration, Emotional lability |
ORPHA:309263 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss, Severe short-limb dwarfism, Rhizomelia |
ORPHA:1842 |
Multiple Endocrine Neoplasia Type 2 |
|
Medullary thyroid carcinoma, Parathyroid adenoma, Elevated circulating parathyroid hormone level,... |
ORPHA:653 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating aldosterone level, Polydipsia, Short stature, Abnormalit... |
ORPHA:320 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Micropenis, Hypothyroidism, Weight loss, Intrauterine growth retardation |
OMIM:619487 |
Treacher-Collins Syndrome |
|
Failure to thrive, Hypoplasia of penis, Hypoplasia of the thymus, Abnormality of the adrenal glan... |
ORPHA:861 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Insulin resistance, P... |
ORPHA:2457 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Weight loss |
ORPHA:65682 |
Ppoma |
|
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... |
ORPHA:97278 |
Cowden Syndrome 7 |
|
Goiter, Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ |
OMIM:616858 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Weight loss, Paraganglioma |
ORPHA:94080 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Renal Nutcracker Syndrome |
|
Infertility, Dyspareunia, Dysmenorrhea, Vulval varicose vein, Varicocele, Weight loss |
ORPHA:71273 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Retrograde ejaculation, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Erdheim-Chester Disease |
|
Ataxia, Polydipsia, Hypogonadotropic hypogonadism, Weight loss, Diabetes insipidus |
ORPHA:35687 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Short stature, Micropenis, Hypospadias, Hypothyroidism, Weight loss |
OMIM:613673 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the hypothalamus-pituitary axis, Adrenal hypopla... |
ORPHA:2166 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Cachexia, Inability to walk, Intrauterine growth retardation, Failure to thrive in infancy |
OMIM:616801 |
Childhood Absence Epilepsy |
|
Depression, Anxiety, Low self esteem, Abnormal social behavior |
ORPHA:64280 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Grfoma |
|
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... |
ORPHA:97261 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatic fibrosis, Hepatomegaly |
OMIM:602579 |
Neuroendocrine Tumor Of The Colon |
|
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100080 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
Cystic Echinococcosis |
|
Ovarian cyst, Abnormality of the testis size, Weight loss |
ORPHA:400 |
Branchiootorenal Syndrome 1 |
|
Euthyroid goiter |
OMIM:113650 |
Wolman Disease |
|
Adrenal insufficiency, Cachexia, Growth delay, Adrenal calcification |
ORPHA:75233 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Decreased se... |
ORPHA:273 |
Classic Hodgkin Lymphoma |
|
Weight loss, Ataxia |
ORPHA:391 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Dysphagia, Failure to thrive, Hyperinsulinemia, Insulin resistance |
OMIM:613327 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Testicular microlithiasis, Cyanosis, Gonadal calcification, Hypo... |
ORPHA:60025 |
Eosinophilic Fasciitis |
|
Weight loss, Acrocyanosis |
ORPHA:3165 |
Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Pituitary adenoma, Abnormality of the thyroid gland, Neoplasm of the... |
ORPHA:733 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Central hypothyroidism |
ORPHA:514 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Delayed menarche, Pubertal developmental failure in females, Cyanosis, ... |
ORPHA:740 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... |
ORPHA:99413 |
Turner Syndrome |
|
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... |
ORPHA:99228 |
Monosomy X |
|
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... |
ORPHA:99226 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Short stature, Cachexia, Gait disturbance, Choreoathetosis, Failure to thrive in infancy |
ORPHA:702 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
Neuroendocrine Tumor Of The Rectum |
|
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100082 |
Fanconi Anemia |
|
Growth delay, Absent testis, Bicornuate uterus, Abnormal preputium morphology, Decreased fertilit... |
ORPHA:84 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Short stature, Glycosuria, Large for gestational age, Hypoglycemia, Diabetes mellitus |
OMIM:616026 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Ataxia, Short stature |
ORPHA:1933 |
Fatal Familial Insomnia |
|
Dysphagia, Weight loss, Ataxia |
OMIM:600072 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Uterine neoplasm, Abnormality of the female genitalia, Weight loss, Dysphagia,... |
ORPHA:1018 |
Microsporidiosis |
|
Thyroiditis, Prostatitis, Abnormal endometrium morphology, Urethritis, Cachexia, Abnormality of t... |
ORPHA:2552 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Weight loss, Cyanosis |
ORPHA:1302 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|