Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... |
ORPHA:399805 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
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 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
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 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility |
OMIM:619696 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Immotile sperm, Male infertility, Abnormal sperm morphology |
OMIM:608653 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
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 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 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:144600 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant dia... |
ORPHA:79085 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Decreased serum leptin, Hypertriglyceridemia, Decreased adip... |
OMIM:615238 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:246650 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... |
ORPHA:280356 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Osteomesopyknosis |
|
Infertility, Increased bone mineral density |
OMIM:166450 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Insulin resistance, Abnor... |
ORPHA:435660 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Infertility |
OMIM:617961 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Insu... |
OMIM:604367 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Oligomen... |
ORPHA:435651 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617187 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... |
OMIM:617959 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Androgen Insensitivity, Partial |
|
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
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 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology |
ORPHA:2398 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
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 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... |
ORPHA:79084 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... |
ORPHA:324575 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... |
ORPHA:181393 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, P... |
OMIM:612526 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormality of the endocrine system, Abnormal bone ossification, Sclerosis of fo... |
ORPHA:166119 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance |
OMIM:617885 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Premature ovarian insufficiency |
ORPHA:75325 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Oligomenorrhea, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant diabetes mell... |
OMIM:613877 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... |
OMIM:146110 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Small for gesta... |
OMIM:262190 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Reactive hypogl... |
ORPHA:35878 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Leptin Deficiency Or Dysfunction |
|
Micropenis, Primary amenorrhea, Decreased serum leptin, Abnormal eating behavior, Polyphagia, Dec... |
OMIM:614962 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia |
OMIM:606528 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Hyp... |
ORPHA:528 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Hypogonadotropic hypogonadism, Infertility, Azoospermia |
OMIM:602390 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Polycystic ov... |
OMIM:151660 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Lipodystrophy, Secondary amenorr... |
ORPHA:280365 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diabetes mellitus |
OMIM:610717 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Severe failure ... |
OMIM:246200 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... |
ORPHA:276556 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis |
ORPHA:2183 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... |
OMIM:615382 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Osteopenia, Primary amenorrhea, Impaired glucose tolerance |
OMIM:615363 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Increased bone mineral density |
OMIM:618406 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Increased circulating free fatty acid level, Hypertriglyce... |
ORPHA:2457 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Low anterior hairline, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed thelarche, Diab... |
OMIM:616033 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Kennedy Disease |
|
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Hepatic ... |
OMIM:615980 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
ORPHA:363400 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Secondary a... |
ORPHA:3085 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... |
ORPHA:71212 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Hypogonadism, Atypical scarring... |
ORPHA:791 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... |
OMIM:278850 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... |
ORPHA:432 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Alopecia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovari... |
ORPHA:2298 |
Pparg-Related Familial Partial Lipodystrophy |
|
Generalized hirsutism, Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Lipoatrophy, Cirrh... |
ORPHA:79083 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Flexion contracture, Hyperglycemia |
OMIM:618856 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Generalized hirsutism, Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... |
OMIM:614963 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormality of the urinary system, Ab... |
ORPHA:2204 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Increased serum testosterone level, Micropenis, Hypospa... |
ORPHA:8 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Generalized hirsutism, Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cellulitis, Lipoat... |
ORPHA:2348 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Sparse hair, Flexion contracture, Alopecia... |
OMIM:608612 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... |
ORPHA:261519 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... |
ORPHA:753 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Hyperactivity, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:607616 |
Temple Syndrome |
|
Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Lipodystrophy, Hypertriglyceridemia, Hypogonadism, Insulin res... |
OMIM:615381 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Aa Amyloidosis |
|
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of t... |
ORPHA:85445 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia, Inguinal hernia, Hypoplasia of peni... |
ORPHA:2849 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... |
ORPHA:752 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:280679 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Hyperlipidemia, Splenomegaly, Insulin resis... |
ORPHA:90970 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Irregular menstruation, Truncal obesity, Polyphagia, Obesity, Hyperglycemia |
OMIM:615986 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... |
OMIM:619902 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... |
OMIM:608594 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diab... |
OMIM:609069 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Delayed epiphyseal ossification, Hyperinsulinemia, Absence of pubertal devel... |
ORPHA:785 |
48,Xyyy Syndrome |
|
Azoospermia, Male hypogonadism, Primary gonadal insufficiency |
ORPHA:99329 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:99330 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Ciliary Dyskinesia, Primary, 40 |
|
Azoospermia, Infertility, Absent outer dynein arms |
OMIM:618300 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... |
OMIM:269700 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY ka... |
OMIM:264300 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity |
OMIM:608747 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Diaphyseal sclerosis, Elevated circulating parathyroid hormone level, Craniof... |
OMIM:122860 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Glycogen Storage Disease Ixc |
|
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia |
OMIM:613027 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Sparse scalp hair,... |
OMIM:248370 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... |
ORPHA:263455 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased serum te... |
ORPHA:465508 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Short Syndrome |
|
Glucose intolerance, Lipoatrophy, Inguinal hernia, Small for gestational age, Lipodystrophy, Insu... |
OMIM:269880 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Azoospermia, Infertility, Diabetes insipidus |
ORPHA:1445 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Hirsutism, Low anterior hairline, Microvesicular hepatic steatosis, Hypoglycem... |
OMIM:220111 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Acquired Generalized Lipodystrophy |
|
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Cirrhosis, Generalized... |
ORPHA:79086 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Greig Cephalopolysyndactyly Syndrome |
|
Hirsutism, Joint contracture of the hand, Inguinal hernia, Camptodactyly of toe, Hypospadias, Umb... |
OMIM:175700 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-resistant diabetes me... |
ORPHA:90301 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Hyperglycemia |
OMIM:619737 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Azoospermia, Decreased response to growth hormone stimulation tes... |
OMIM:300845 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level |
OMIM:607398 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density |
OMIM:619489 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Polyphagia, Hypogonadism |
OMIM:617119 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertrichosis, Polydipsia, Long penis, Clitoral hypertrophy... |
ORPHA:769 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:254531 |
Glycerol Kinase Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
OMIM:307030 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
External genital hypoplasia, Hypogonadotropic hypogonadism, Hypopigmentation of hair, Polyphagia,... |
ORPHA:177910 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Failure to thrive, Hyperinsulinemia, Constipation, Hepatomegaly, Flexion contracture, Sple... |
OMIM:613327 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:98754 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age |
OMIM:618857 |
48,Xxyy Syndrome |
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Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr... |
ORPHA:10 |
Graves Disease, Susceptibility To, 1 |
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Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Polyp... |
OMIM:275000 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:98793 |
Focal Segmental Glomerulosclerosis 1 |
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Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Axial Osteomalacia |
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Renal cyst, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Aromatase Deficiency |
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Generalized hirsutism, Female infertility, Type II diabetes mellitus, Eunuchoid habitus, Hyperlip... |
ORPHA:91 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:177904 |
Hyperlipoproteinemia, Type I |
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Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... |
OMIM:238600 |
Attrv30M Amyloidosis |
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Impotence, Abnormal renal physiology, Nephropathy, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:177901 |
Schaaf-Yang Syndrome |
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Gastroesophageal reflux, Constipation, Flexion contracture, Thick eyebrow, Micropenis, Camptodact... |
OMIM:615547 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia |
OMIM:618970 |
Macrosomia Adiposa Congenita |
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Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, ... |
OMIM:615415 |
X-Linked Acrogigantism |
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Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... |
ORPHA:300373 |
Bangstad Syndrome |
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Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
46,Xy Complete Gonadal Dysgenesis |
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Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
Nephronophthisis 2 |
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Absence of renal corticomedullary differentiation, Chronic tubulointerstitial nephritis, Nephrono... |
OMIM:602088 |
Laron Syndrome |
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Hypoglycemia, Hypercholesterolemia |
ORPHA:633 |
Cerebrooculofacioskeletal Syndrome 1 |
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Failure to thrive, Hirsutism, Joint contracture of the hand, Flexion contracture, Small for gesta... |
OMIM:214150 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Hypocalcemia, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating cre... |
ORPHA:26793 |
Complete Androgen Insensitivity Syndrome |
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Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
Mucopolysaccharidosis, Type Iiib |
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Joint stiffness, Hyperactivity, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, D... |
OMIM:252920 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
46,Xx Ovotesticular Disorder Of Sex Development |
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Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Sim1-Related Prader-Willi-Like Syndrome |
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External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... |
ORPHA:398079 |
Hypotonia-Cystinuria Syndrome |
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Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... |
OMIM:606407 |
Trichodentoosseous Syndrome |
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Increased bone mineral density |
OMIM:190320 |
Werner Syndrome |
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Slender build, Pili torti, Sparse scalp hair, Type II diabetes mellitus, Ovarian neoplasm, Lipoat... |
ORPHA:902 |
Multiple Endocrine Neoplasia Type 4 |
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Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Mpi-Cdg |
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Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diarrhea, Vomiting, Hypothyroidis... |
ORPHA:79319 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Failure to thrive, Low anterior hairline, Small for gestational age, Truncal obesity, Hypoglycemi... |
ORPHA:73272 |
Functioning Gonadotropic Adenoma |
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Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... |
ORPHA:91348 |
Prader-Willi-Like Syndrome |
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Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:398073 |
Lcat Deficiency |
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Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... |
ORPHA:650 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Increased circulating gonadotropin level, Infertility, Impotence, Decreased serum testosterone co... |
ORPHA:2232 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Autosomal Dominant Polycystic Kidney Disease |
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Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Ciliary Dyskinesia, Primary, 45 |
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Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Osteosclerosis With Ichthyosis And Fractures |
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Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Chylomicron Retention Disease |
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Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Atypical Werner Syndrome |
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Hyperinsulinemia, Ovarian neoplasm, Alopecia, Glycosuria, Secondary amenorrhea, Abnormality of ci... |
ORPHA:79474 |
Fanconi-Bickel Syndrome |
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Postprandial hyperglycemia, Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, ... |
ORPHA:2088 |
Schnitzler Syndrome |
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Arthritis, Hepatomegaly, Increased bone mineral density, Splenomegaly |
ORPHA:37748 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Dysbetalipoproteinemia |
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Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
Prader-Willi Syndrome |
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Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Vomiting, Clitora... |
ORPHA:739 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Renal Dysplasia |
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Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Morgagni-Stewart-Morel Syndrome |
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Diabetes mellitus, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Short Syndrome |
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Sparse hair, Inguinal hernia, Alopecia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Wei... |
ORPHA:3163 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
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Keloids, Cryptorchidism, Oligospermia |
OMIM:314300 |
Autosomal Recessive Spastic Paraplegia Type 46 |
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Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... |
ORPHA:320391 |
Magel2-Related Prader-Willi-Like Syndrome |
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External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Increased bod... |
ORPHA:398069 |
Ciliary Dyskinesia, Primary, 41 |
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Infertility, Immotile sperm |
OMIM:618449 |
Endosteal Hyperostosis, Autosomal Dominant |
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Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Increased serum serotonin, Hyperactivity |
ORPHA:85288 |
Citrullinemia, Type Ii, Adult-Onset |
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Hyperargininemia, Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia |
OMIM:603471 |
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