Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Short stature, Aggressive behavior, Hyperinsulinemia, Obesity, Impaired social interactions, Hype... |
ORPHA:329249 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Childhood Disintegrative Disorder |
|
Bowel incontinence, Social and occupational deterioration, Dementia, Abnormal emotion, Progressiv... |
ORPHA:168782 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... |
OMIM:614962 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Short stature, Precocious puberty, Insulin-resistant dia... |
OMIM:262190 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Shyness |
OMIM:618221 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growt... |
OMIM:601410 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Short sta... |
ORPHA:314811 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Wolfram-Like Syndrome |
|
Diabetes mellitus, Depression, Progressive cerebellar ataxia, Severe postnatal growth retardation... |
ORPHA:411590 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Bangstad Syndrome |
|
Severe short stature, Small for gestational age, Insulin-resistant diabetes mellitus, Progressive... |
OMIM:210740 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... |
ORPHA:171706 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Laryngeal Neuroendocrine Tumor |
|
Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Weight loss, Increased s... |
ORPHA:100083 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Periventricular nodular heterotopia, Obesity, Primary amenorrhea,... |
OMIM:619737 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Pri... |
OMIM:604367 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:163976 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Increased circulating free T3, Attention deficit hyp... |
OMIM:188570 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Ovarian cyst, Sev... |
OMIM:246200 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... |
ORPHA:324575 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia |
OMIM:222100 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Amenorrhea, Weight loss, Infertility, Erectile ... |
ORPHA:465508 |
Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A... |
OMIM:300148 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia, Polyphagia |
OMIM:615986 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... |
ORPHA:276580 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Short stature, Growth delay, Delayed ... |
ORPHA:314802 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... |
ORPHA:276608 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:254516 |
Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Chorea, Gait ataxia, Depression, Progressive cerebellar ... |
ORPHA:248111 |
Bangstad Syndrome |
|
Short stature, Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries... |
ORPHA:1227 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hyperinsulinemia, Obesity, Seconda... |
ORPHA:3085 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Short stature, Abnormal testis morphology, Weight loss |
ORPHA:317 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Hypoglycemia, Short stature, Severe postnatal growth retardation, Adrenal ins... |
OMIM:262700 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hyperglycemia, Hypospadias |
OMIM:175700 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Hypospadias, Sho... |
ORPHA:209905 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... |
ORPHA:276575 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Short stature, Anorexia, Aggressive behavior, Abnormal fear-indu... |
ORPHA:3077 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Vaginal neoplasm, Weight loss, Recurrent hypoglycemia, Prostate cancer, Hypoinsulin... |
ORPHA:2126 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoplasia of penis, Hypoglycemia, Failure to thrive, Adrenal hypopl... |
ORPHA:95496 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Type I diabetes mellitus, Intrauterine growth retar... |
OMIM:606176 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Macroorchidism, Pituitary hypothy... |
ORPHA:90674 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Neoplasm of the parathyroid gland, Pituitary adeno... |
ORPHA:163634 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age |
OMIM:618858 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... |
OMIM:609152 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... |
ORPHA:791 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Ataxia, Reduced sperm motility, Infertility, Difficulty walking, Truncal ataxia... |
ORPHA:320391 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis, Hypoglycemia |
ORPHA:2022 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Abnormal ... |
OMIM:614736 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... |
OMIM:616329 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, R... |
OMIM:262400 |
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 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... |
ORPHA:424 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Obesity Due To Sim1 Deficiency |
|
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Cognitive impairment, Attention de... |
ORPHA:369873 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Diabetes mellitus, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:614296 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter |
ORPHA:142 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71529 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Dysphagia, Weight loss, Pheochromocytoma, Elevated circulating calci... |
ORPHA:1332 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Short stature, Postna... |
OMIM:616113 |
Thyroid Dyshormonogenesis 5 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274800 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Short Syndrome |
|
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Birth length ... |
OMIM:269880 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Short stature, Precocious ... |
ORPHA:769 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia, Cryptorchidism, Dysphagia, Intrauterine growth retardation, Failure to thrive |
OMIM:618958 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Polydipsia, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Inc... |
ORPHA:525731 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Mantle Cell Lymphoma |
|
Anorexia, Weight loss |
ORPHA:52416 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Short stature, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic hypogly... |
OMIM:616033 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Moynahan Syndrome |
|
Short stature, Hypogonadism, Cachexia |
ORPHA:2574 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Moderate postnatal growth retarda... |
ORPHA:69076 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Hypoglycemia, Small for gestational age, Postnatal grow... |
ORPHA:397590 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Addictive alcohol... |
ORPHA:399 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter |
ORPHA:319487 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Abnormal external genitalia, Hypoglycemia, Short stature, Postnatal gr... |
ORPHA:231140 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... |
OMIM:617872 |
Lead Poisoning |
|
Decreased female libido, Small for gestational age, Anorexia, Abnormality of the menstrual cycle,... |
ORPHA:330015 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insulin... |
ORPHA:79085 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... |
ORPHA:293964 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615108 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestatio... |
ORPHA:79237 |
Diencephalic Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... |
OMIM:615109 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Goiter |
OMIM:188580 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Hypoglycemia, Short stature, Postnatal growth retardati... |
ORPHA:73272 |
Idiopathic Achalasia |
|
Dysphagia, Weight loss |
ORPHA:930 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Intrauterine growth retardation, Hypoglycemia, External genital hypopl... |
ORPHA:231147 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
2P21 Microdeletion Syndrome |
|
Growth delay, Failure to thrive, Hypogonadism, Hypoglycemia |
ORPHA:163693 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genitalia, female, Increas... |
ORPHA:90791 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Glutaric Aciduria Iii |
|
Failure to thrive, Hyperthyroidism, Goiter |
OMIM:231690 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity |
OMIM:618406 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Gait disturbance |
OMIM:604484 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
Thyroid Lymphoma |
|
Hyperthyroidism, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Primary hypercortisolism, Paradoxical increased co... |
OMIM:610475 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Aggressive behavior, Hypogonadism, Dysphagia, Diabetes insipidus |
ORPHA:97229 |
Renpenning Syndrome |
|
Severe short stature, Diabetes mellitus, Hypospadias, Cachexia, Growth delay, Decreased testicula... |
ORPHA:3242 |
Perlman Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insulin... |
ORPHA:435660 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor... |
ORPHA:813 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genita... |
ORPHA:90794 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274400 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Goiter |
OMIM:274240 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... |
OMIM:158350 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Ataxia, Anorexia, Weight loss, Agitation, Oral aversion, Hyperglycemia |
ORPHA:134 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Increa... |
ORPHA:85138 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Compulsive behaviors, Short attention span, Abnormal social behavior, Attention deficit hyperacti... |
ORPHA:444002 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Severe short stature, Thyroid agenesis, Cryptorchidism, Growth delay, Ectopic... |
ORPHA:3047 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abnormal soc... |
ORPHA:1020 |
Late-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556037 |
Young-Onset Parkinson Disease |
|
Short attention span, Restless legs, Gastroparesis, Impulsivity, Diarrhea, Depression, Frontal lo... |
ORPHA:2828 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism, Addictive alcohol use, Hyperglycemia |
ORPHA:90065 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Leprechaunism |
|
Enlarged ovaries, Overgrowth of external genitalia, Postnatal growth retardation, Labial hypertro... |
ORPHA:508 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:435651 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Grow... |
OMIM:610600 |
Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556030 |
Hsd10 Disease |
|
Short attention span, Abnormal social behavior, Dysphagia |
ORPHA:391417 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... |
OMIM:606069 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Irregular menstruation, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Pendred Syndrome |
|
Hyperparathyroidism, Ataxia, Thyroid carcinoma, Hypothyroidism, Goiter |
ORPHA:705 |
Atypical Werner Syndrome |
|
Decreased body weight, Diabetes mellitus, Premature ovarian insufficiency, Failure to thrive, Sho... |
ORPHA:79474 |
Mcdonough Syndrome |
|
Cryptorchidism, Short stature, Cachexia |
ORPHA:2471 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... |
OMIM:146510 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyper... |
OMIM:609069 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Hypogl... |
ORPHA:199299 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Growth delay, Glucose intolerance, Hypergl... |
OMIM:608612 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Growth delay, Fasting hypoglycemia, Glycosuria, Po... |
ORPHA:2088 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Insulin resis... |
ORPHA:528 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Cyanosis, Short stature, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:293987 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:30925 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Ataxia, Weight loss, Glycosuria,... |
ORPHA:99885 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Chronic Hiccup |
|
Abnormal eating behavior, Weight loss |
ORPHA:396 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Growth delay, Hyperglycemia, Failure to thrive, Hypoglycemia |
OMIM:615453 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp... |
ORPHA:226307 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... |
OMIM:301035 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, M... |
ORPHA:90790 |
Central Diabetes Insipidus |
|
Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus |
ORPHA:178029 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Lipodystrophy, Familial Partial, Type 2 |
|
Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovari... |
OMIM:151660 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Ataxia, Gait ataxia, Glucose intolerance, Gait disturbance, D... |
ORPHA:254892 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Aggressive behavior, Large for gestational age, Cryptorchidism, Focal polymicrogyri... |
OMIM:619075 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabet... |
ORPHA:2047 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas... |
ORPHA:263455 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Annular pa... |
OMIM:615710 |
Spondylometaphyseal Dysplasia, Axial |
|
Disproportionate short-trunk short stature, Rhizomelia, Short stature, Reduced sperm motility |
OMIM:602271 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity |
OMIM:615812 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self... |
ORPHA:449291 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia, Gait disturbance |
OMIM:616260 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis |
ORPHA:391673 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Dysphagia |
ORPHA:298 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Hypertriglyceridemia, Hypercholesterolemia, Confusion, Decreased bod... |
ORPHA:247585 |
Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Weight los... |
ORPHA:2905 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Laron Syndrome |
|
Hypoplasia of penis, Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Tru... |
ORPHA:633 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... |
OMIM:615962 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Ataxia, Anorexia, Growth delay, Tip-toe gait, Compulsive behaviors, Abnormal temper... |
ORPHA:3008 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... |
ORPHA:3464 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Decreased female libido, Hypoglycemia, Salt craving, Adrena... |
ORPHA:95409 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Impaired glucose tolerance, Postnatal growth retardation, Insulin-resistant diabetes mellitus, Hy... |
OMIM:248370 |
Reni Syndrome |
|
Hypoglycemia, Ataxia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Hypothyroi... |
OMIM:617575 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Weight loss, Difficulty walking, Impaired oropharyngeal swallow respon... |
ORPHA:98897 |
Celiac Disease, Susceptibility To, 1 |
|
Short stature, Ataxia, Postnatal growth retardation, Thyroiditis, Weight loss, Infertility, Delay... |
OMIM:212750 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Weight loss, Ovarian neoplasm |
ORPHA:83469 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Attrv30M Amyloidosis |
|
Impotence, Weight loss |
ORPHA:85447 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
Rett Syndrome |
|
Inability to walk, Agitation, Gait disturbance, Increased serum leptin, Difficulty walking, Failu... |
ORPHA:778 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Dysphagia, Weight loss |
ORPHA:2198 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Hyperactivity, Short stature, Broad-based gait, Cachexia, Aggressive behavio... |
ORPHA:85293 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Slender build, Cachexia, Weight loss |
OMIM:613662 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Gait ataxia, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly... |
ORPHA:289548 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Hypoglycemia |
OMIM:201910 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Insulin resistance, Hyperinsulinemia, Gait ataxia |
ORPHA:363400 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Sex reversal, In... |
ORPHA:168558 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Short stature, Immotile sperm, Abnormal central microtubular pair morphol... |
OMIM:612650 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Short stature, Weight loss |
ORPHA:388 |
Christianson Syndrome |
|
Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Abnormal repetitive man... |
ORPHA:85278 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Short stature, Follicular thyroid carcinoma, At... |
ORPHA:201 |
Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature |
OMIM:619489 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Cachexia, Dysmetria, Gait ataxia, Dysphagia |
OMIM:618093 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... |
ORPHA:276399 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Whipple Disease |
|
Ataxia, Cachexia, Anorexia, Insulin resistance, Erectile dysfunction, Polydipsia, Hypothyroidism |
ORPHA:3452 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Mirage Syndrome |
|
Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Hypoglycemia, Short stature, Cry... |
OMIM:617053 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, Attention deficit... |
ORPHA:251071 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Weight loss |
ORPHA:54251 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Short stature, Abnormal central microtubular pair morphology of respirato... |
OMIM:612649 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Decreased serum leptin, Decreased fertility in females, Labial hypertrophy, Hy... |
OMIM:608594 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Anorexia, Precocious puberty, Ovarian neoplasm, Weight lo... |
ORPHA:370348 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Cachexia, Weight loss |
ORPHA:1979 |
Galactose Epimerase Deficiency |
|
Growth delay, Weight loss |
ORPHA:79238 |
Reticular Dysgenesis |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss |
ORPHA:33355 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Short sta... |
OMIM:613986 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intraut... |
ORPHA:217346 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased serum leptin, Decreased fertility in females, Labial hypertrophy, Hyperinsulinemia, Dec... |
OMIM:269700 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Aggressive behavior, Hypersexuality, Increased body weight, W... |
ORPHA:905 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Weight loss, Ovarian carcinoma |
ORPHA:1333 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Bowel incontinence, Progressive psychomotor deterioration, Depression, Emot... |
ORPHA:309271 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Diabetes mellitus, Dysmenorrhea, Decreased adiponectin level, Decreased serum leptin, Insulin res... |
ORPHA:280365 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:2576 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
Aredyld Syndrome |
|
Short stature, Cachexia, Type II diabetes mellitus, Type I diabetes mellitus, Intrauterine growth... |
ORPHA:1133 |
Alexander Disease Type I |
|
Failure to thrive, Ataxia, Cachexia, Dysphagia |
ORPHA:363717 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism |
ORPHA:79319 |
Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Anorexia, Increased circulating ACTH level, Pu... |
ORPHA:97287 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Pheochromocytoma, Elevated circulating calcitonin concentration, Pa... |
OMIM:162300 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hypospadias, Hypoglycemia, Ataxia, Truncal ataxia, Dysmetria, Simplifi... |
OMIM:220111 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Pleural Mesothelioma |
|
Dysphagia, Weight loss |
ORPHA:50251 |
Fanconi-Bickel Syndrome |
|
Postnatal growth retardation, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failu... |
OMIM:227810 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:144 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:440437 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Apparent Mineralocorticoid Excess |
|
Short stature, Abnormality of circulating cortisol level, Intrauterine growth retardation, Polydi... |
ORPHA:320 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Obesity, Hyper... |
ORPHA:444077 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Attention deficit hyperactivity d... |
ORPHA:216866 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:79086 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Ataxia, Growth delay, Dysphagia, Hypothyroidism, Testicula... |
OMIM:222300 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Ovarian neoplasm |
ORPHA:2221 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Severe postnatal growth retardation, Short stature |
ORPHA:440713 |
Huntington Disease-Like 1 |
|
Restlessness, Dysmetria, Gait ataxia, Weight loss, Gait disturbance |
ORPHA:157941 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Anorexia, Weight loss |
ORPHA:65682 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anorexia, Varicocele, Weight loss, Hydrocele testis, Impotence, Retrograde ejaculation, Hashimoto... |
ORPHA:49041 |
Secondary Short Bowel Syndrome |
|
Weight loss, Growth delay, Central hypothyroidism, Primary hypothyroidism, Failure to thrive, Pol... |
ORPHA:95427 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Weight loss |
ORPHA:90003 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Somatic sensory dysfunction, Anorexia, Impaired tactile sensation, Hyperesthesia, Decreased body ... |
ORPHA:51890 |
Perry Syndrome |
|
Akinesia, Weight loss, Inappropriate behavior, Disinhibition, Short stepped shuffling gait |
OMIM:168605 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Diabetes mellitus, Glycosuria, Intrauterine growth retarda... |
OMIM:600001 |
Neuroendocrine Tumor Of The Colon |
|
Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid t... |
ORPHA:100080 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:95626 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Thyroid Ectopia |
|
Short stature, Abnormality of the thyroid gland, Growth delay, Ectopic thyroid, Hypothyroidism |
ORPHA:95712 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Ataxia, Proportionate short stature, Weight loss, Loss of ambulation, Intra... |
ORPHA:3208 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Abnormal social behavior, Progressive psychomotor deterioration, Emotional ... |
ORPHA:309263 |
Short Syndrome |
|
Severe short stature, Insulin resistance, Diabetes mellitus, Weight loss |
ORPHA:3163 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Hypoglycemia, Cachexia |
ORPHA:42 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Small for gestational age, Hypoglycemia, Short stature, Cryptorchidism... |
OMIM:307030 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Gm1 Gangliosidosis |
|
Short stature, Ataxia, Unsteady gait, Weight loss, Abnormality of the scrotum, Gait disturbance, ... |
ORPHA:354 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,... |
OMIM:137920 |
Thyroid Hypoplasia |
|
Growth delay, Hypothyroidism, Thyroid hypoplasia, Short stature |
ORPHA:95720 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hormone level, Ab... |
ORPHA:90796 |
Scorpion Envenomation |
|
Restlessness, Ataxia, Glycosuria, Hyperglycemia, Priapism |
ORPHA:466677 |
Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Anorexia, Abnormalit... |
ORPHA:97278 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Anorexia, Central hypothyroidism |
ORPHA:514 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97280 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Abnorm... |
ORPHA:2166 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Ataxia, Recurrent hypoglycemia, Hyperglycemia, Failure to thrive |
OMIM:124000 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia... |
ORPHA:861 |
Aicardi-Goutieres Syndrome 9 |
|
Weight loss, Intrauterine growth retardation, Micropenis, Failure to thrive, Hypothyroidism, Self... |
OMIM:619487 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Classic Hodgkin Lymphoma |
|
Ataxia, Anorexia, Weight loss |
ORPHA:391 |
Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Short stature, Oral-pharyngeal... |
OMIM:219800 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
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 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis, Anorexia, Weight loss |
ORPHA:1302 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Retrograde ejaculation, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
48,Xxxy Syndrome |
|
Irritability, Constipation, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Ab... |
ORPHA:96263 |
Thymoma |
|
Neoplasm of the thyroid gland, Prostate neoplasm, Weight loss |
ORPHA:99867 |
Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Anorexia, Neoplasm o... |
ORPHA:97261 |
Cystic Echinococcosis |
|
Ovarian cyst, Abnormality of the testis size, Weight loss |
ORPHA:400 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Proportionate short stature, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hy... |
ORPHA:71212 |
Immunodeficiency 27A |
|
Anorexia, Weight loss |
OMIM:209950 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Paraganglioma, Weight loss |
ORPHA:94080 |
Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Metrorrhagia, Anorexia, Weight loss |
ORPHA:520 |
Takayasu Arteritis |
|
Anorexia, Weight loss |
ORPHA:3287 |
Ciliary Dyskinesia, Primary, 22 |
|
Reduced sperm motility, Infertility, Absent inner and outer dynein arms |
OMIM:615444 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss |
ORPHA:99868 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Hypoglycemia, Short stature, Cachexia, Thyroid carcinoma, Hashimo... |
ORPHA:109 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Inability to walk, Intrauterine growth retardation, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Bone Dysplasia, Lethal Holmgren Type |
|
Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss |
ORPHA:1842 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Ataxia, Anorexia, Weight loss |
ORPHA:79242 |
Mandibuloacral Dysplasia |
|
Postnatal growth retardation, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsul... |
ORPHA:2457 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Cowden Syndrome 7 |
|
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter |
OMIM:616858 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums |
ORPHA:530983 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Cervical neoplasm, Thyroid C cell hyperplasia, Primary hyperparat... |
ORPHA:653 |
Neuroendocrine Tumor Of Stomach |
|
Anorexia, Increased circulating ACTH level, Weight loss, Increased serum serotonin, Paraganglioma... |
ORPHA:100075 |
Erdheim-Chester Disease |
|
Ataxia, Hypogonadotropic hypogonadism, Weight loss, Polydipsia, Diabetes insipidus |
ORPHA:35687 |
Leishmaniasis |
|
Anorexia, Weight loss |
ORPHA:507 |
Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Short stature, Cachexia, Athetosis, Self-mutilation |
ORPHA:52503 |
Lipodystrophy, Congenital Generalized, Type 4 |
|