| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... |
ORPHA:2843 |
| Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... |
ORPHA:280356 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619874 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hyperlip... |
OMIM:232700 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Infertility, Azoospermia, Congestive heart failure, Hypertension, Hepa... |
OMIM:615703 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Membranoproliferative glomerulonephritis, Hepatic steat... |
OMIM:608709 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Hypertension, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, Hepatom... |
ORPHA:79084 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Oligomenorrhea, Maternal d... |
OMIM:604367 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adiponec... |
ORPHA:79085 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Increased C-pep... |
ORPHA:528 |
| Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Primary amenorrhea, Hyperinsulinemia, Decre... |
ORPHA:66628 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adiponec... |
ORPHA:435651 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Primary amenorrhea, Hyperinsulinemia, Decre... |
ORPHA:179494 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Abnormal labia majora morphology, Elevated circulating creatine kinase concentrat... |
ORPHA:435660 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Ch... |
ORPHA:465508 |
| Preeclampsia |
|
Elevated systolic blood pressure, Elevated hepatic transaminase, Hypertension, Type I diabetes me... |
ORPHA:275555 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pri... |
OMIM:612526 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Decreased circulating free T4 concentration, Secondary amenorrhea, Inappr... |
OMIM:301033 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Primary amenorrhea, Cirrhosis, Splenomegaly, Hyperuricemia, Secondary amenorrhea, Oligomenorrhea,... |
ORPHA:79083 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Hypercholesterolemia, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
OMIM:610717 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Oligomenorrhea, Elevat... |
ORPHA:370 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
| Primary Lipodystrophy |
|
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Angina pectoris, Congestive heart failure, Hy... |
ORPHA:90970 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma |
OMIM:142330 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguo... |
ORPHA:90791 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Increased sarcoplasmic... |
ORPHA:264580 |
| Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Cirrhosis, Hepatic failure, Decreased circulating ceruloplasmin concentrati... |
OMIM:616828 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Secondary amenorrhea, Congestive heart failure, Hepatic steatosis, Hypertrophic car... |
ORPHA:2348 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... |
ORPHA:168563 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Impotence, Elevated transferrin saturation, Hepatic steatosis, Diabetes mellitus, Incr... |
OMIM:606069 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... |
OMIM:614841 |
| Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Abnormal circulating lipid concentration, Hyperinsulinemic hypoglycemia, Abnor... |
ORPHA:2298 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
| Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Diabetes mellitus, Hypertension, Hypercholesterolemia |
OMIM:608320 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Abnormal internal genitalia, Primary amenorrhea, Aplasia of the uterus,... |
OMIM:273250 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... |
ORPHA:91348 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
| African Iron Overload |
|
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... |
ORPHA:139507 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... |
ORPHA:90796 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation, Increased C-peptide level, Diabetic ketoacidosis, Hypertension, Hepatic s... |
OMIM:615238 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... |
OMIM:614480 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
| Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Abnormal circulating lipid concentration, Hypertension, Hepatic stea... |
ORPHA:79086 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S... |
ORPHA:75234 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... |
ORPHA:52901 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Oligomenorrhea, Elevat... |
ORPHA:79240 |
| Aromatase Deficiency |
|
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... |
ORPHA:91 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Premature ovarian i... |
ORPHA:79237 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
| Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... |
OMIM:620010 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceri... |
OMIM:306000 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... |
OMIM:618841 |
| Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, M... |
ORPHA:163976 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... |
ORPHA:769 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Decreased testicular size, Hepatomegaly, Decreased serum testosterone concentration... |
OMIM:201100 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Decreased fertility |
ORPHA:1643 |
| Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Hypoplasia of penis, Diabetes mellit... |
ORPHA:181393 |
| Panhypophysitis |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:95513 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
| Ataxia-Telangiectasia |
|
Mucosal telangiectasiae, Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Type II di... |
ORPHA:100 |
| 49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... |
ORPHA:261534 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Pigmented m... |
OMIM:610475 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol... |
ORPHA:3085 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, Hepatocellular a... |
ORPHA:562 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase |
OMIM:618400 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, ... |
ORPHA:79259 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Male hypogonadism, Increased... |
ORPHA:163971 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Hyperinsulinemia, Type II diabetes mellitus, Labial pseudohypertrophy, Hype... |
OMIM:151660 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Splenomegaly, Secondary amenorrhea, Ventricular arrhythmia, Supraventricular arrhythmia, Congesti... |
ORPHA:280365 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Increased ci... |
OMIM:300869 |
| Polyembryoma |
|
Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron... |
ORPHA:180229 |
| Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... |
OMIM:214900 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Cryptorchidism... |
OMIM:619761 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,... |
OMIM:278000 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... |
OMIM:617872 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hepatic steatosis, Insulin-resistant diabetes mellitus, Oligomenorrhea, Hypertrigly... |
OMIM:613877 |
| Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Invasive parasit... |
ORPHA:400 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Hypergonadotropic hypogonadism, Precocious puberty, Dilated cardiomyopathy |
ORPHA:2229 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt... |
OMIM:202150 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Primary amenorrhea, Impotence, Absence of secondary sex characteristics, Dec... |
ORPHA:432 |
| Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... |
OMIM:210500 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Premature ovarian insufficiency, Neoplasm of the pancreas, Supraventri... |
ORPHA:2959 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi... |
OMIM:616278 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, Ad... |
OMIM:619386 |
| 49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Increased serum iron, Arthritis, Infertility, Azoospermia, Dilated cardiomyopathy, Con... |
OMIM:602390 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Secondary amenorrhea, Elevated hepatic transaminase, Polycystic ovaries, Hypergonadotropic hypogo... |
OMIM:268020 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased fertility, Decreased fertility in females, Cirrhosis, Hyperinsulinemia, Insulin-resista... |
OMIM:269700 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Increased serum iron, Hypogonadism, Secondary amenorrhea, Elevated t... |
OMIM:613313 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased fertility in females, Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus ... |
OMIM:608594 |
| Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Enlarged kidney, Hypokalemia, Labia... |
ORPHA:508 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Delayed puberty, Polycystic ovaries,... |
OMIM:615363 |
| Donohue Syndrome |
|
Hepatic fibrosis, Precocious puberty, Hyperinsulinemia, Long penis, Cholestasis, Recurrent infect... |
OMIM:246200 |
| Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... |
OMIM:613953 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabete... |
ORPHA:436182 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:605911 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Hyperphosphatemia, Precocious puberty, Hyperthyroidism, Abnormal testis m... |
ORPHA:457059 |
| Alstrom Syndrome |
|
Hypothyroidism, Chronic active hepatitis, Elevated hepatic transaminase, Hepatic steatosis, Hepat... |
OMIM:203800 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response t... |
ORPHA:3464 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:237800 |
| Analbuminemia |
|
Hypotension, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased ... |
OMIM:616000 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang... |
ORPHA:69663 |
| Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent Klebsiella inf... |
OMIM:614372 |
| Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ... |
ORPHA:247585 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Hepat... |
OMIM:615381 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... |
OMIM:605814 |
| Bile Acid Conjugation Defect 1 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... |
OMIM:619232 |
| Galactose Mutarotase Deficiency |
|
Decreased liver function, Hypergalactosemia, Cholestasis, Hepatomegaly |
ORPHA:570422 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia |
ORPHA:488650 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Decreased serum testosterone concentration |
ORPHA:101006 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Abnormal circulating follicle-stimulating hormone concentratio... |
OMIM:616950 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
| Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Increased serum testosterone level, Hypovolemia, Enlarged polycystic ov... |
ORPHA:64739 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Persistent patent ductus venosus, Decreased... |
OMIM:601466 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hypospadias, Micronodular cirrhosis, ... |
OMIM:301045 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre... |
ORPHA:2495 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries, Insulin-resistant diabetes mell... |
ORPHA:90301 |
| Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Hypertension, Elevated circulating creatine kinase conc... |
OMIM:615980 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... |
ORPHA:95699 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Elevated circulating thyroid-stimulating hormone concentration, Decreased testic... |
OMIM:241080 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Increased serum bile acid concentration, Hepatomegaly, Intrahepatic choles... |
OMIM:243300 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreas... |
ORPHA:289548 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreas... |
ORPHA:168558 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Decreased testicular size, Abnormal umbilical ... |
ORPHA:335 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... |
ORPHA:99429 |
| Dysbetalipoproteinemia |
|
Hypothyroidism, Angina pectoris, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Increa... |
ORPHA:412 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ... |
ORPHA:33402 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Primary gonadal insufficiency, Primary amenorrhea, Decreased serum estradiol, Aplasia of the ovar... |
ORPHA:2232 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Abnormality of the gallbladder, Biliary t... |
ORPHA:2869 |
| Thymic Aplasia |
|
Hypothyroidism, Hypocalcemic tetany, Opportunistic infection, Recurrent Staphylococcus aureus inf... |
ORPHA:83471 |
| Cog4-Cdg |
|
Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Recurrent upper respiratory tract i... |
ORPHA:263501 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Precocious puberty, Recurrent otitis media, Maturity-onset diabetes of the ... |
ORPHA:254531 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea... |
OMIM:618805 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... |
ORPHA:1772 |
| Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, External genital hypoplasia, Hypogonadism, Patent ductus arteriosus |
OMIM:615996 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... |
OMIM:619013 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva... |
OMIM:255120 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites |
ORPHA:890 |
| Galactosemia Iii |
|
Jaundice, Hypergalactosemia, Splenomegaly, Hepatomegaly |
OMIM:230350 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Hypertension, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia |
ORPHA:363400 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Temple Syndrome |
|
Precocious puberty, Decreased testicular size, Recurrent otitis media, Maturity-onset diabetes of... |
OMIM:616222 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... |
ORPHA:209902 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... |
OMIM:607765 |
| Ane Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... |
ORPHA:157954 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Hyperuricemia, Hypertension, Diabetes mellitus, Abnormality of the thyroid gland,... |
ORPHA:77296 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Irregular menstruation, Hyperaldosteronism, Increased circulating cortisol level, Macronodular ad... |
ORPHA:189427 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... |
OMIM:618528 |
| Laron Syndrome |
|
Hypohidrosis, Hypoplasia of penis, Delayed puberty, Hypercholesterolemia, Abnormality of the endo... |
ORPHA:633 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... |
ORPHA:2795 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Decreased plasma carnitine, Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine... |
OMIM:500009 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Hepatomegaly |
ORPHA:2924 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Irregular menstruation, Increased circulating cortisol level, Type II diabetes mellitus, Decrease... |
ORPHA:189439 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:46532 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Elevated circulating acylcarnitine concentration, Cardiomyopathy |
ORPHA:26792 |
| Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis |
ORPHA:139491 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... |
OMIM:201475 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Telangiectasia, Increased serum iron, Impotence, Elevated hepatic transaminase, Hepato... |
OMIM:235200 |
| Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
| Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, f... |
ORPHA:90794 |
| Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Elevated circulating alanine aminotransfer... |
OMIM:614921 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function |
OMIM:617093 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:369 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
| Immunodeficiency 47 |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentrati... |
OMIM:300972 |
| Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, De... |
OMIM:212140 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Bronchiectasis, Decreased circulating cortisol level, Recurrent sinusitis, Hyponatre... |
ORPHA:293978 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the liver, Hyperuricemia, Abnormality of the ovary, G... |
ORPHA:543 |
| Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... |
OMIM:232400 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia |
OMIM:605479 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, R... |
ORPHA:183675 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Decreased plasma carnitine, Abnormality of the liver, Hepatomegaly, Mildly elevated creatine kinase |
ORPHA:254864 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
| Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:240500 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Decreased response to growth hormone stimulation test, Enterovi... |
OMIM:307200 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:615158 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Increased circulating fer... |
OMIM:616860 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circulating creatine kinase conce... |
OMIM:600649 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly |
OMIM:609016 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
| Aarskog-Scott Syndrome |
|
Shawl scrotum, Bilateral cryptorchidism, Testicular atrophy, Delayed puberty, Elevated circulatin... |
OMIM:305400 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly |
OMIM:607624 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hepatomegaly, H... |
OMIM:607616 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| Dubin-Johnson Syndrome |
|
Abnormality of the liver, Jaundice, Biliary tract abnormality, Hepatomegaly, Conjugated hyperbili... |
ORPHA:234 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas... |
ORPHA:71212 |
| Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
| Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
| Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Recurrent bacterial skin infections, Periportal fib... |
ORPHA:101330 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depr... |
ORPHA:90065 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
| Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Hyperuricemia, Splenomegaly, Hepatomegaly |
OMIM:261750 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Abnormality of female external genitalia, Neonatal sepsis, Jaundice, Decreased ci... |
ORPHA:90790 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... |
ORPHA:79303 |
| Mirage Syndrome |
|
Patent ductus arteriosus, Aspiration pneumonia, Petechiae, Shawl scrotum, Adrenal insufficiency, ... |
OMIM:617053 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
| Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... |
ORPHA:90674 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:617068 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatic failure, Elevated circulating acylcarnitine concentration, Decreased plasma free carnitin... |
ORPHA:228305 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Recurrent otitis media, Maturity-onset diabetes of the young, Cryptorchidism,... |
ORPHA:96184 |
| Postinfectious Vasculitis |
|
Severe Epstein Barr virus infection, Ischemic stroke, Recurrent Staphylococcus aureus infections,... |
ORPHA:48435 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
| Opitz Gbbb Syndrome |
|
Patent ductus arteriosus, Recurrent aspiration pneumonia, Bicornuate uterus, Bifid scrotum, Shawl... |
ORPHA:2745 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steatorrhea, Intrah... |
OMIM:235555 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent fungal infections, Recurrent candida infections, Rhinitis, Recurrent Staphylococcus aur... |
ORPHA:572 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Very long chain fatty acid accumulation, Diffuse hepatic steatosis, Elevated hepatic transaminase... |
OMIM:264470 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... |
OMIM:615962 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Splen... |
OMIM:603552 |
| Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
| Autoimmune Hepatitis |
|
Increased total bilirubin, Spider hemangioma, Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosi... |
ORPHA:2137 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
| Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Jaundice |
ORPHA:3111 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Hypera... |
OMIM:614582 |
| Steinert Myotonic Dystrophy |
|
Impotence, Elevated hepatic transaminase, Secondary hyperparathyroidism, Ovarian carcinoma, Hyper... |
ORPHA:273 |
| Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Hepatocellular carcinoma, Oligospermia, Follicular ... |
ORPHA:1359 |
| Wilson Disease |
|
Cirrhosis, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Abnormality of the mens... |
ORPHA:905 |
| Cowden Syndrome 1 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Recurrent infections,... |
OMIM:158350 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension, Impotence, Adrenal insufficiency, Anterior hypopituitarism, Decreased female libido,... |
ORPHA:91349 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
ORPHA:42 |
| Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:607594 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... |
OMIM:613027 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... |
OMIM:613327 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly |
OMIM:610539 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Purpura, Glomerulonephritis, Recurrent bacterial infections, Hepatomegaly, Recur... |
OMIM:613496 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... |
OMIM:201750 |
| Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
| Propionic Acidemia |
|
Hyperammonemia, Hepatomegaly |
ORPHA:35 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Elevated hepatic transaminase, Elevated circulating creatine kinase ... |
OMIM:212138 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
| Infantile Systemic Hyalinosis |
|
Aplasia/Hypoplasia of the thymus, Steatorrhea, Polycystic ovaries, Recurrent bacterial infections... |
ORPHA:2176 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Abnormal bleeding, Hepatosplenomegaly, Epistaxis, Recurrent bacterial infections, Hepa... |
OMIM:612840 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly |
OMIM:614876 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Whim Syndrome 1 |
|
Abnormality of female external genitalia, Bronchiectasis, Recurrent bacterial infections, Recurre... |
OMIM:193670 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
| Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Increased circulating cortisol leve... |
ORPHA:1501 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomega... |
OMIM:618234 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Hyperthyroidism, Increased circulating cortisol level, Thyroid car... |
ORPHA:249 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatic cysts, Hepatomegaly |
OMIM:617004 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Abnormal circulating lipid concentration, Minimal change glomerulonephritis, ... |
ORPHA:567548 |
| Distal Monosomy 10P |
|
Polycystic ovaries, Hypoplasia of penis, Cryptorchidism |
ORPHA:1580 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Hepatic fibrosis, Elevated hepatic transaminase, Congestive heart failure, Dilated... |
OMIM:615895 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Polycystic ovaries, Recurrent otitis media |
OMIM:616831 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly |
ORPHA:2398 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Hepatic failure, Elevated circulating acylcarnitine concentration, ... |
ORPHA:228308 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic fibrosis, Recurrent urinary tract infections, Chilblains, Elevated hepati... |
OMIM:619487 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperuricemia, Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carci... |
OMIM:232220 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
| Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem... |
OMIM:615947 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, Perineal hypospadias, True hermaphroditism... |
OMIM:278850 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a... |
ORPHA:247768 |
| Cowden Syndrome 6 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Ovarian cyst, Thyroid... |
OMIM:615109 |
| Cowden Syndrome 5 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... |
OMIM:615108 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem... |
OMIM:614300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Hypertrophic cardiomyopathy, Cardiomyopathy |
OMIM:615119 |
| Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Abnormality of the liver, Jaundice, Puberty and gonadal ... |
ORPHA:79320 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration |
OMIM:609195 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly |
ORPHA:60 |
| Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Hypercholest... |
ORPHA:470 |
| Peutz-Jeghers Syndrome |
|
Uterine neoplasm, Neoplasm of the pancreas, Biliary tract abnormality, Intestinal bleeding, Bile ... |
OMIM:175200 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Congestive heart failure, Elevated c... |
OMIM:617253 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Hepatic fibrosis, Premature ovarian insufficiency, Elevated hepatic transaminase,... |
OMIM:212065 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
| Lysosomal Acid Lipase Deficiency |
|
Hypotension, Elevated hepatic transaminase, Primary adrenal insufficiency, Hepatosplenomegaly, Hy... |
ORPHA:275761 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased testicular size, Type I diabetes mellitus, Breast aplasia, Elevated circulating luteini... |
ORPHA:3044 |
| Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosplenomegaly, Hepat... |
ORPHA:444490 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Hyperalaninemia, Hyperprolinemia |
OMIM:615918 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... |
OMIM:610198 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hepatic steatosis, Hypertrophic cardiomyopathy, Abnormal reproductive s... |
ORPHA:70472 |
| Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Infectious encephalitis, Recurrent urinary tract infections, Biliary tract abnormality, Cholangit... |
OMIM:209920 |
| Immunodeficiency 84 |
|
Persistent EBV viremia, Recurrent bacterial infections, Splenomegaly, Perianal abscess |
OMIM:619437 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
| Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... |
OMIM:618641 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries, Recurrent upper respiratory tract infections |
ORPHA:284180 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent fungal infections, Recurrent mycobacterial infections, Anhidrosis, Recurrent bacterial ... |
ORPHA:169090 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
| 19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Hepatic steatosis, Aortic regurgitation, Hypospadias, Mitral ... |
ORPHA:254346 |
| Omenn Syndrome |
|
Hypoplasia of the thymus, Recurrent bacterial infections, Hypoproteinemia, Hepatomegaly, Erythrod... |
OMIM:603554 |
| Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:614868 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Sple... |
OMIM:300635 |
| Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Recurrent sta... |
ORPHA:331235 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Elevated circulating acylcarnitine concentration, De... |
ORPHA:99901 |
| Ddost-Cdg |
|
Hepatic steatosis, Elevated hepatic transaminase, Recurrent ear infections, Primary hypothyroidism |
ORPHA:300536 |
| Galactose Epimerase Deficiency |
|
Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
| Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Very long chain fatty a... |
ORPHA:98908 |
| Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hepatomegaly, Prolonge... |
OMIM:618892 |
| Familial Glucocorticoid Deficiency |
|
Hypotension, Leydig cell neoplasia, Precoc |
