Gene: Hsd11b1 MGI:103562

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

hydroxysteroid 11-beta dehydrogenase 1

Synonyms:

11beta-hydroxysteroid dehydrogenase type 1, 11beta-HSD-1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hsd11b1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Hsd11b1 (1 diseases)
Human diseases predicted to be associated with Hsd11b1 (517 diseases)

The table below shows human diseases associated to Hsd11b1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cortisone Reductase Deficiency 2		Obesity, Premature pubarche, Insulin resistance	OMIM:614662

The table below shows human diseases predicted to be associated to Hsd11b1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Adrenocortical Carcinoma, Hereditary	Adrenocortical carcinoma	OMIM:202300
Bulimia Nervosa, Susceptibility To	Bulimia	OMIM:607499
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
Lipoid Congenital Adrenal Hyperplasia	Adrenogenital syndrome, Congenital adrenal hyperplasia	OMIM:201710
Adrenal Hypoplasia, Cytomegalic Type	Primary adrenal insufficiency, Congenital adrenal hypoplasia	OMIM:202155
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal enzyme/coenzyme activity	OMIM:125460
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism	OMIM:103900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ...	ORPHA:293964
Glycogen Storage Disease Vi	Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ...	OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo...	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia	OMIM:609968
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid...	OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Cholesterol-Ester Transfer Protein Deficiency	Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot...	ORPHA:79506
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom...	OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Coronary Artery Disease, Autosomal Dominant 2	Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab...	OMIM:610947
Morbid Obesity And Spermatogenic Failure	Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet...	OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I...	OMIM:606721
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatic fibrosis, Hypertrig...	ORPHA:280356
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Hepatic steatosis, Diabetes mellitus	OMIM:613877
Growth Hormone Insensitivity Syndrome	Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes insip...	ORPHA:181393
Autoimmune Polyendocrinopathy Type 1	Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar...	ORPHA:3453
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset truncal ob...	ORPHA:71529
Analbuminemia	Hypercholesterolemia, Oligohydramnios, Elevated circulating transferrin concentration, Lipodystro...	OMIM:616000
Severe Neurodegenerative Syndrome With Lipodystrophy	Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabdominal adipos...	ORPHA:363400
Temple Syndrome	Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism, Flexion contracture, ...	OMIM:616222
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Familial Hyperaldosteronism Type Ii	Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Glucocortocoid...	ORPHA:404
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Diabetes m...	OMIM:615830
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci...	OMIM:610717
Congenital Disorder Of Glycosylation, Type Iip	Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,...	OMIM:616829
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hyperuricemia, ...	OMIM:604367
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,...	OMIM:219080
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ...	ORPHA:263458
Familial Hyperaldosteronism Type I	Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-...	ORPHA:403
Rajab Interstitial Lung Disease With Brain Calcifications 2	Restrictive ventilatory defect, Elevated hepatic transaminase, Oligohydramnios, Hepatic steatosis...	OMIM:619013
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete...	ORPHA:436182
Macrosomia Adiposa Congenita	Polyphagia	OMIM:248100
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Akt2-Related Familial Partial Lipodystrophy	Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo...	ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy	Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr...	ORPHA:435660
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Hyponatremia, Pneumonia, Hypoglycemia, Hyperactive renin-an...	ORPHA:90790
Insulinomatosis And Diabetes Mellitus	Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat...	OMIM:147630
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso...	OMIM:615954
Galactokinase Deficiency	Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact...	ORPHA:79237
Mandibuloacral Dysplasia	Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Reduced intrathoracic adipo...	ORPHA:2457
Primary Pigmented Nodular Adrenocortical Disease	Pigmented micronodular adrenocortical disease, Hypogonadism, Adrenal hyperplasia, Diabetes mellitus	ORPHA:189439
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ...	OMIM:301033
Hyperinsulinism Due To Glucokinase Deficiency	Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes...	ORPHA:79299
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency	OMIM:614278
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Hepatomegaly, Hypertr...	OMIM:615238
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin...	ORPHA:99886
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ...	OMIM:151660
Insulin Autoimmune Syndrome	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,...	ORPHA:411593
Obesity Due To Prohormone Convertase I Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,...	ORPHA:71526
Cidec-Related Familial Partial Lipodystrophy	Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Po...	ORPHA:435651
Body Mass Index Quantitative Trait Locus 20	Polyphagia	OMIM:618406
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose...	ORPHA:528
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism	OMIM:613677
Lipase Deficiency, Combined	Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus	OMIM:246650
Hyperlipoproteinemia, Type Ii, And Deafness	Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:144300
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S...	ORPHA:75234
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra...	ORPHA:90793
Congenital Disorder Of Glycosylation, Type Iio	Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ...	OMIM:616828
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatom...	ORPHA:79084
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci...	OMIM:610600
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ...	ORPHA:90791
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, E...	OMIM:615980
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom...	OMIM:614480
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Wide nose	ORPHA:254531
Laron Syndrome	Hypercholesterolemia, Hypoglycemia, Delayed puberty, Hypoplastic nasal bridge, Aplasia/Hypoplasia...	ORPHA:633
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia	OMIM:603813
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Hypersplenism, Pulmonary arterial hypertension, Cirrhosis, Increased hepati...	OMIM:278000
Obesity, Hyperphagia, And Developmental Delay	Polyphagia	OMIM:613886
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cognitive impairment, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Type I diab...	OMIM:616192
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Cryptorchidism, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Flexion con...	OMIM:615381
Familial Hyperaldosteronism Type Iii	Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:251274
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia	OMIM:222100
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia	ORPHA:329249
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Late-Onset Familial Hypoaldosteronism	Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Elevated seru...	ORPHA:556037
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatic steatosis, Ketotic hypoglycemia, Elevated circulating acylcarnitine...	ORPHA:26792
Cushing Disease	Lipodystrophy, Hypokalemia, Diabetes mellitus, Adrenal hyperplasia, Premature ovarian insufficien...	ORPHA:96253
African Iron Overload	Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Increased circ...	ORPHA:139507
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Diabetes mellitus, Macronodular adrenal hyperplasia	ORPHA:189427
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe...	ORPHA:324575
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries...	ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 52	Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating alanine aminotransferas...	OMIM:619386
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Hepatic failure	OMIM:261650
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hyperuricemia, ...	ORPHA:79083
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hypoglycemia, Hyperlipidemia, Cognitive impairment, Recurrent respiratory infections	ORPHA:364
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera...	ORPHA:231580
Idiopathic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypercholesterolemia, Respiratory tract infection, Abnormal circulating lipid concen...	ORPHA:567548
Ravine Syndrome	Apnea, Abnormality of the larynx, Abnormality of the basal ganglia, Abnormal brainstem morphology...	ORPHA:99852
Leptin Deficiency Or Dysfunction	Abnormal eating behavior, Polyphagia	OMIM:614962
Hyperlipidemia, Familial Combined, 3	Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating...	OMIM:144250
Congenital Analbuminemia	Hypercholesterolemia, Hypoproteinemia, Oligohydramnios, Lipodystrophy, Pedal edema, Facial edema,...	ORPHA:86816
Cog4-Cdg	Hypercholesterolemia, Cirrhosis, Fatal liver failure in infancy, Elevated hepatic transaminase, R...	ORPHA:263501
Early-Onset Familial Hypoaldosteronism	Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Elevated seru...	ORPHA:556030
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest...	OMIM:617156
Citrullinemia, Type Ii, Neonatal-Onset	Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia...	OMIM:605814
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Cerebral atrophy, Hypoalbuminemia	OMIM:607250
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ...	OMIM:202010
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Apnea, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased ...	OMIM:619048
Citrullinemia Type Ii	Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce...	ORPHA:247585
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism, Anteverted nares, Pre...	ORPHA:96184
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Hyperaldosteronism, Abnormal circulating renin, Hypokalemia, Pulmonary arterial hypert...	ORPHA:369929
Acquired Partial Lipodystrophy	Hepatic steatosis, Lipoatrophy, Insulin resistance	ORPHA:79087
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test...	ORPHA:786
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ...	ORPHA:276608
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Premature pubarche	OMIM:201810
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad	OMIM:616033
Primary Lipodystrophy	Cirrhosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries,...	ORPHA:90970
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance	OMIM:144600
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Hepatocellu...	ORPHA:370
Combined Oxidative Phosphorylation Deficiency 34	Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Hepatic failure, Hy...	OMIM:617872
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Elevate...	OMIM:255120
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase	OMIM:618400
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Broad nasal tip, Ele...	OMIM:232400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ...	ORPHA:276580
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal response to ACTH stimulation test, Cryptorchidism, Bulbous nose, Abnormal response to hu...	ORPHA:95699
Acquired Generalized Lipodystrophy	Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul...	ORPHA:79086
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Hepatocellu...	ORPHA:264580
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Hypoglycemia, Prolonged neonatal jaundice, Congenit...	ORPHA:446
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia	OMIM:615863
Citrullinemia, Type Ii, Adult-Onset	Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,...	OMIM:603471
Familial Chylomicronemia Syndrome	Dementia, Hepatic steatosis, Acute pancreatitis, Increased circulating chylomicron concentration,...	ORPHA:444490
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Minimal subcutaneous fat, Increased intraabdominal fat, Decreased serum leptin, Insulin resistanc...	ORPHA:280365
Carnitine Deficiency, Systemic Primary	Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglyce...	OMIM:212140
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypercholesterolemia, Hepatic steatosis, Macrovesicular hepatic steatosis, Cholesterol gallstones...	ORPHA:209902
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level	ORPHA:96181
Alstrom Syndrome	Elevated hepatic transaminase, Hyperinsulinemia, Chronic active hepatitis, Hypergonadotropic hypo...	OMIM:203800
Smith-Magenis Syndrome	Hypercholesterolemia, Abnormality of the larynx, Wide nasal bridge, Hypertriglyceridemia, Abnorma...	OMIM:182290
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decre...	ORPHA:90674
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia, Type II diabetes mellitus, Broad nasal tip	ORPHA:401923
Polymicrogyria Due To Tubb2B Mutation	Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu...	ORPHA:300573
Glucocorticoid Deficiency 5	Abnormal response to ACTH stimulation test, Decreased circulating cortisol level	OMIM:617825
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate...	OMIM:251880
Dysbetalipoproteinemia	Xanthelasma, Hypercholesterolemia, Hepatic steatosis, Hypothyroidism, Acute pancreatitis, Hepatom...	ORPHA:412
Pick Disease Of Brain	Polyphagia	OMIM:172700
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Abnormal subcut...	OMIM:212065
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia	ORPHA:35878
Chylomicron Retention Disease	Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H...	OMIM:246700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif...	ORPHA:276575
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Wheezing, Dyspnea, Elevated hepatic transaminase, Chronic pulmonary obstruction, Hepat...	OMIM:613490
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Progressive neurologic deterioration, Hypothyroidism, Hypopituitarism, Cogn...	ORPHA:90065
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc...	ORPHA:369
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated hepatic transaminase	OMIM:615395
Pontocerebellar Hypoplasia Type 10	Underdeveloped nasal alae, Wide nasal bridge, Abnormal brainstem morphology, Simplified gyral pat...	ORPHA:411493
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Bulbous nose, Macrovesicular hepatic steatosis, Respiratory insufficie...	OMIM:608836
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Dementia, Hypoalbuminemia, Cognitive impairment, Mental deterioration	OMIM:208920
Gómez-López-Hernández Syndrome	Cognitive impairment, Anteverted nares, Abnormal brainstem morphology	ORPHA:1532
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Wide nasal bridge, Hepatomegaly, Depressed nasal bridge, Diffuse h...	OMIM:264470
Frontotemporal Dementia	Polyphagia	OMIM:600274
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Low plasma citrulline, Fasting hypoglycemia, Apnea, Hepatic steatosis, Cerebral atrophy, Impaired...	OMIM:261680
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Decreased plasma carnitine, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Elevated hepati...	ORPHA:71212
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista...	OMIM:262190
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Emphysema, Lipoatrophy, Hypertriglyceridemia, Abnormality of the pulmonary ...	ORPHA:363618
Leptin Receptor Deficiency	Abnormal eating behavior, Polyphagia	OMIM:614963
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Obesity Due To Sim1 Deficiency	Polyphagia	ORPHA:369873
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Polyphagia	OMIM:609734
Acth Deficiency, Isolated	Decreased circulating cortisol level, Jaundice, Adrenal hypoplasia, Adrenocorticotropic hormone d...	OMIM:201400
Hypotonia-Cystinuria Syndrome	Polyphagia	ORPHA:163690
Seckel Syndrome 10	Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Elevated...	OMIM:617253
Congenital Disorder Of Glycosylation, Type Iir	Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,...	OMIM:301045
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Decreased plasma total carnitine, Pachygyria, Agenesis of corpus callosum, Hepatic steatosis, Hyp...	ORPHA:228308
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus...	ORPHA:255182
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased plasma total carnitine, Elevated hepatic transaminase, Exertional dyspnea, Hepatic stea...	ORPHA:42
Multiple Acyl-Coa Dehydrogenase Deficiency	Pachygyria, Respiratory distress, Elevated circulating glutaric acid concentration, Hepatic steat...	OMIM:231680
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis, Microcephaly	OMIM:615119
Interstitial Lung And Liver Disease	Cirrhosis, Intraalveolar phospholipid accumulation, Dyspnea, Elevated hepatic transaminase, Hepat...	OMIM:615486
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Flexion c...	OMIM:613327
Lysosomal Acid Lipase Deficiency	Xanthelasma, Hypercholesterolemia, Microvesicular hepatic steatosis, Psychomotor deterioration, J...	ORPHA:275761
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cerebra...	OMIM:614300
Hyperlipoproteinemia, Type V	Increased VLDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased circ...	OMIM:144650
Mody	Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp...	ORPHA:552
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Abnormal circulating creatine kinase concentration, Cerebral white matter atrophy, Elevated hepat...	ORPHA:369840
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ...	OMIM:231100
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Abnormal brainstem MRI signal intensity, Abnormality of the basal ganglia, Small basal ganglia, R...	ORPHA:263410
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hepatic steatosis, Decreased liver function, Microcephaly, Elevated hepatic transaminase	OMIM:617093
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Decreased plasma carnitine, Respiratory arrest, Tachypnea, Hepatocellular necrosis, Hepatic steat...	OMIM:201475
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Hepatic steat...	OMIM:608594
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Wide nas...	OMIM:220111
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat...	OMIM:201450
Bronchopulmonary Dysplasia	Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo...	ORPHA:70589
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism	Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir...	OMIM:619326
Smith-Magenis Syndrome	Hypercholesterolemia, Short nose, Aplasia/Hypoplasia of the corpus callosum, Hypothyroidism, Wide...	ORPHA:819
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia	ORPHA:177910
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Hepatic steat...	OMIM:269700
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypocalcemia, Cirrhosis, Tachypnea, Elevated hepatic transaminase, Oligohydramnios, Hepatic steat...	OMIM:613658
Liver Failure, Infantile, Transient	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hyperbilirubinemia, Acute hepati...	OMIM:613070
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Respirator...	ORPHA:470
Idiopathic Bronchiectasis	Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum...	ORPHA:60033
Estrogen Resistance	Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia	OMIM:615363
Insulinoma	Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena...	ORPHA:97279
19P13.12 Microdeletion Syndrome	Cryptorchidism, Arthrogryposis multiplex congenita, Hepatic steatosis, Hypoplasia of the corpus c...	ORPHA:254346
Obesity Due To Congenital Leptin Deficiency	Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se...	ORPHA:66628
Sarcoidosis, Susceptibility To, 2	Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em...	OMIM:612387
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir...	ORPHA:247598
Hypercholesterolemia, Familial, 3	Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:603776
Combined Oxidative Phosphorylation Deficiency 19	Hepatic steatosis, Respiratory distress	OMIM:615595
Birt-Hogg-Dubé Syndrome	Pulmonary sequestration, Emphysema, Multiple lipomas, Parathyroid adenoma, Pneumothorax, Medullar...	ORPHA:122
Porphyria Cutanea Tarda	Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran...	ORPHA:101330
Retinitis Pigmentosa	Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity	ORPHA:791
Progeria-Short Stature-Pigmented Nevi Syndrome	Abnormality of thalamus morphology, Central sleep apnea, Lack of facial subcutaneous fat, Elevate...	ORPHA:2959
Nephrotic Syndrome, Type 14	Cryptorchidism, Hypothyroidism, Hypoglycemia, Hypertriglyceridemia, Adrenal insufficiency, Edema,...	OMIM:617575
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Cerebral...	ORPHA:445038
Ataxia With Vitamin 3 Deficiency	Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:277460
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Xanthelasma, Hypercholesterolemia, Increased hepatic glycogen content, Hyp...	ORPHA:79259
Megalocornea-Mental Retardation Syndrome	Hypercholesterolemia, Wide nasal bridge, Cerebral cortical atrophy, Primary hypothyroidism, Micro...	OMIM:249310
Immunodeficiency 47	Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau...	OMIM:300972
Hemochromatosis Type 4	Increased circulating ferritin concentration, Cirrhosis, Joint swelling, Hepatic steatosis, Conge...	ORPHA:139491
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok...	ORPHA:276556
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Cerebral cortical atrophy, Asthma, H...	ORPHA:1164
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se...	ORPHA:179494
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hepa...	OMIM:207750
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Respiratory arrest, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepat...	OMIM:600649
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepati...	OMIM:256810
Fructose-1,6-Bisphosphatase Deficiency	Fasting hypoglycemia, Dyspnea, Elevated hepatic transaminase, Neonatal hypoglycemia, Respiratory ...	ORPHA:348
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic h...	ORPHA:228305
Hypercholesterolemia, Familial, 2	Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma	OMIM:144010
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Congenital Disorder Of Glycosylation, Type It	Dyspnea, Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia...	OMIM:614921
Alpha-1-Antitrypsin Deficiency	Emphysema, Hepatomegaly, Jaundice, Hepatitis, Hepatic failure	ORPHA:60
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole...	ORPHA:567983
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic steatosis, Hypothyroidism, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hepatic...	OMIM:616263
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Nonarteriosclerotic cerebral calcification, Cirrhosis, Emphysema, Hepatic failure, Portal hyperte...	OMIM:210050
Chromosome 22Q13 Duplication Syndrome	Polyphagia	OMIM:615538
Achondroplasia	Upper airway obstruction, Megalencephaly, Brain stem compression, Depressed nasal bridge	OMIM:100800
Patent Ductus Venosus	Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia	OMIM:601466
Graves Disease, Susceptibility To, 1	Polyphagia	OMIM:275000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity	ORPHA:3085
Chylomicron Retention Disease	Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato...	ORPHA:71
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Oligohydramnios, Hepatic steatosis, Cholestasis, Hepatic fibrosis,...	ORPHA:541423
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Glucose i...	OMIM:235200
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Epistaxis, Broad nasal tip, Infantile hypercalcemia, Micro...	ORPHA:96168
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Polyphagia	ORPHA:411515
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Increased circulating chylomicron concentration, Jaundice, Pancreatitis, Sp...	OMIM:238600
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, Microcephaly, Hypothyroidism, Wide nasal bridge	ORPHA:2479
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Pulmonary fibrosis, Emphysema, Hypophosphatemic rickets, Glycosuria, Decreased ...	OMIM:618913
Combined Oxidative Phosphorylation Deficiency 12	Hypoplasia of the corpus callosum, Macrovesicular hepatic steatosis, Cholestasis, Hepatomegaly, D...	OMIM:614924
Adrenocortical Carcinoma	Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti...	ORPHA:1501
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating...	OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1	Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating...	OMIM:610489
6Q16 Microdeletion Syndrome	Polyphagia	ORPHA:171829
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Edema, Microcephaly	OMIM:618348
Acyl-Coa Dehydrogenase 9 Deficiency	Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Nonketotic hypoglyc...	ORPHA:99901
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Frontotemporal dementia, Elevated circulating creatine kinase concentration, U...	ORPHA:52430
Bardet-Biedl Syndrome 9	Polydipsia, Polyphagia	OMIM:615986
Ddost-Cdg	Hepatic steatosis, Lipodystrophy, Elevated hepatic transaminase, Primary hypothyroidism	ORPHA:300536
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Hypercholesterolemia, Decreased testicular size, Hypertriglyceridemia	OMIM:610644
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hyperammonemia, Elevated hepatic transaminase, Elevated circulating sebacic acid concentration, I...	OMIM:615160
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:616834
Sitosterolemia 1	Hypercholesterolemia, Elevated circulating sitosterol concentration, Splenomegaly, Hyperapobetali...	OMIM:210250
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Neonatal hypoglycemia, Cardiorespiratory arrest, Hepatic steatosis...	OMIM:212138
Huntington Disease	Choking episodes, Polyphagia, Oral-pharyngeal dysphagia	ORPHA:399
Crimean-Congo Hemorrhagic Fever	Elevated hepatic transaminase, Cardiorespiratory arrest, Hepatic steatosis, Cough, Epistaxis, Jau...	ORPHA:99827
Aromatase Deficiency	Cryptorchidism, Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Type II di...	ORPHA:91
Glycogen Storage Disease Ixc	Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi...	OMIM:613027
Pearson Syndrome	Hypocalcemia, Hydrops fetalis, Pancreatic fibrosis, Dehydration, Hypomagnesemia, Hepatic failure,...	ORPHA:699
Doors Syndrome	Polyhydramnios, Bulbous nose, Respiratory distress, Arrhinencephaly, Wide nasal bridge, Polymicro...	ORPHA:79500
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant h...	OMIM:231530
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas...	ORPHA:453533
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Cach Syndrome	Progressive neurologic deterioration, T2 hypointense thalamus, Arthrogryposis multiplex congenita...	ORPHA:135
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ...	OMIM:608612
Temple Syndrome	Polyphagia	ORPHA:254516
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Hyp...	OMIM:618805
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Adrenal hypoplasia, Neonatal hypoglycemia, Adrenocorticotropin deficient a...	ORPHA:199296
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Elevated hepatic transaminase, Dementia, Hypergonadotropic hypogonadism, Abnormal cere...	ORPHA:298
D-Bifunctional Protein Deficiency	Polyhydramnios, Elevated hepatic transaminase, Corpus callosum atrophy, Increased circulating ver...	OMIM:261515
Hyperinsulinism Due To Hnf4A Deficiency	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp...	ORPHA:263455
Steinert Myotonic Dystrophy	Polyhydramnios, Hypercholesterolemia, Male hypogonadism, Respiratory failure requiring assisted v...	ORPHA:273
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic failure, Transient hyperlipidemia	ORPHA:156
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co...	ORPHA:90796
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Episodic tachypnea, Apneic episodes in infancy, Abnormal brainstem morphology, Abnorm...	ORPHA:163961
Cebalid Syndrome	Polyphagia	OMIM:618774
Insulin-Resistance Syndrome Type B	Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli...	ORPHA:2298
Lennox-Gastaut Syndrome	Mental deterioration, Abnormal brainstem morphology	ORPHA:2382
Squalene Synthase Deficiency	Elevated circulating methylsuccinic acid concentration, Hypocholesterolemia, Decreased LDL choles...	OMIM:618156
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Chronic pancre...	ORPHA:98908
Wilson Disease	Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Joint swelling, Hepatic steatosis, Acu...	ORPHA:905
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Oligohydramnios, Pulmonary hypoplasia, Bilateral lung agenesis, Pulmonary artery stenosis, Congen...	OMIM:611812
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Elevated circulating growth hormone concentration, Increased circulating cor...	OMIM:131100
Adrenomyodystrophy	Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma	OMIM:300270
Timothy Syndrome	Hypocalcemia, Hypothyroidism, Pneumonia, Hypoglycemia, Bronchitis, Depressed nasal bridge	OMIM:601005
Mpi-Cdg	Lymphedema, Congenital hepatic fibrosis, Hypoglycemia, Hepatic failure	ORPHA:79319
Septopreoptic Holoprosencephaly	Abnormality of the septum pellucidum, Abnormal midbrain morphology, Megalencephaly, Abnormal corp...	ORPHA:280195
Cimdag Syndrome	Microvesicular hepatic steatosis, Pontocerebellar atrophy, Lipodystrophy, Cerebral atrophy, Chole...	OMIM:619273
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia	OMIM:614100
Infantile Liver Failure Syndrome 1	Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Microcephaly	OMIM:615438
Coach Syndrome 2	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hepatic fibrosis, A...	OMIM:619111
Dilated Cardiomyopathy With Ataxia	Bilateral basal ganglia lesions, Elevated hepatic transaminase, Neonatal hypoglycemia, Microvesic...	ORPHA:66634
20Q11.2 Microdeletion Syndrome	Camptodactyly, Brainstem dysplasia	ORPHA:444051
Infantile Liver Failure Syndrome 3	Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur...	OMIM:618641
Alagille Syndrome 1	Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Reduced number of intrahepatic bi...	OMIM:118450
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase...	OMIM:610921
Donohue Syndrome	Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Severe f...	OMIM:246200
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Macrovesicular hepatic steatosis, Flexion contracture, Recurrent bronchopul...	OMIM:617303
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Nonimmu...	OMIM:618838
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis, Hypoplasia of the corpus callosum	OMIM:615918
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Hepatic failure, C...	OMIM:611126
Abetalipoproteinemia	Cirrhosis, Elevated hepatic transaminase, Hypotriglyceridemia, Hepatic steatosis, Hypothyroidism,...	ORPHA:14
Hypocomplementemic Urticarial Vasculitis	Restrictive ventilatory defect, Dyspnea, Pleural effusion, Emphysema, Pericardial effusion, Cough...	ORPHA:36412
Hydrolethalus Syndrome 1	Polyhydramnios, Accessory spleen, Laryngeal hypoplasia, Absent septum pellucidum, Arrhinencephaly...	OMIM:236680
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Tachypnea, Elevated hepatic transaminase, Nonketotic hypoglycemia, Recurrent hypoglycemia,...	ORPHA:20
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Apnea, Acute hepatic steatosis, Hypoglycemia	OMIM:210200
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c...	OMIM:248370
Perlman Syndrome	Inguinal hernia, Hyperinsulinemia, Femoral hernia	ORPHA:2849
Hypotonia-Cystinuria Syndrome	Polyphagia	OMIM:606407
Schaaf-Yang Syndrome	Polyphagia	OMIM:615547
Autosomal Dominant Cutis Laxa	Emphysema, Hernia, Inguinal hernia, Umbilical hernia	ORPHA:90348
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat...	ORPHA:64753
Atypical Werner Syndrome	Ovarian neoplasm, Delayed puberty, Type II diabetes mellitus, Generalized lipodystrophy, Hypogona...	ORPHA:79474
Gracile Syndrome	Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati...	ORPHA:53693
Solitary Fibrous Tumor/Hemangiopericytoma	Hypophosphatemic rickets, Abnormality of the peritoneum, Reduced C-peptide level, Neoplasm of the...	ORPHA:2126
Slc35A2-Cdg	Camptodactyly of finger, Cerebral white matter atrophy, Elevated hepatic transaminase, Abnormal m...	ORPHA:356961
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Lymphedema, Abnormal brainstem morphology	ORPHA:79279
Bangstad Syndrome	Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Abnormality of the parath...	ORPHA:1227
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Elevated circulating creatine kinase concentration, Elongated superior cerebellar peduncle, Cogni...	ORPHA:370022
Congenital Muscular Dystrophy With Cerebellar Involvement	Diffuse white matter abnormalities, Hypoplasia of the brainstem, Type II lissencephaly, Olivopont...	ORPHA:370959
Spinocerebellar Ataxia Type 1	Memory impairment, Respiratory failure, Abnormal brainstem morphology, Cognitive impairment, Atro...	ORPHA:98755
Man1B1-Cdg	Polyphagia	ORPHA:397941
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran...	ORPHA:98907
Autoimmune Hepatitis	Increased total bilirubin, Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Viral hepat...	ORPHA:2137
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Apnea, Elevated hepatic transaminase, Respiratory distress, Hepatic steatosis, Flexion contractur...	ORPHA:17
Congenital Lobar Emphysema	Emphysema, Respiratory distress	ORPHA:1928
Cholestasis, Progressive Familial Intrahepatic, 5	Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Edema, Hepatic failure, Hyperam...	OMIM:617049
Bare Lymphocyte Syndrome, Type I	Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis	OMIM:604571
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Hypoketotic hypoglycemia, Chronic hepatic failure, Respiratory insufficiency, Chole...	ORPHA:746
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Nonimmune hydrops f...	OMIM:618835
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Central hypothyroidism, Delayed puberty, Hyperlipidemia, Depressed ...	ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Nonimmune hydrops f...	OMIM:618839
2Q23.1 Microdeletion Syndrome	Polyphagia	ORPHA:228402
Trisomy 18P	Polyphagia	ORPHA:1715
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:256840
Cutis Laxa, Autosomal Dominant 1	Emphysema, Inguinal hernia	OMIM:123700
Mandibuloacral Dysplasia Progeroid Syndrome	Bulbous nose, Underdeveloped nasal alae, Elevated hepatic transaminase, Glucose intolerance, Elev...	OMIM:619127
Immunodeficiency, Common Variable, 10	Abnormal response to ACTH stimulation test, Recurrent sinusitis, Hypoglycemia, Central adrenal in...	OMIM:615577
Hypophosphatasia	Emphysema, Hypercalcemia, Respiratory insufficiency	ORPHA:436
Multiple Endocrine Neoplasia Type 4	Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu...	ORPHA:276152
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hypocholesterolemia	OMIM:266510
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Abnormal periventricular white matter morphology, Decreased circulating cortis...	ORPHA:139396
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Combined Oxidative Phosphorylation Deficiency 11	Pachygyria, Hepatic steatosis, Hypoplasia of the corpus callosum, Hepatomegaly, Cerebral cortical...	OMIM:614922
Leigh Syndrome With Cardiomyopathy	Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ap...	ORPHA:70474
Joubert Syndrome 7	Hypoplasia of the brainstem, Brainstem dysplasia, Episodic tachypnea, Central apnea, Abnormal cor...	OMIM:611560
X-Linked Acrogigantism	Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the...	ORPHA:300373
Hypoadrenocorticism, Familial	Apnea, Adrenal hypoplasia, Hyponatremia, Hypoglycemia, Adrenal insufficiency, Hyperkalemia	OMIM:240200
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Hypermethioninemia, Inguinal hernia, Pancreatitis, Hyperhomocystinemia	OMIM:236200
Oculocerebrorenal Syndrome Of Lowe	Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Abnormal dental enamel morphology, Hyperpa...	ORPHA:534
Alkuraya-Kucinskas Syndrome	Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Short nose, Aplasia/Hypoplasia o...	OMIM:617822
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormal brainstem MRI signal intensity, Hypoventilation, Pachygyria, Aspiration, Increased conne...	ORPHA:258
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity, Hypoplasia of the corpus callosum, Cerebral atrophy, Leu...	ORPHA:83629
Cog5-Cdg	Camptodactyly of finger, Cryptorchidism, Elevated hepatic transaminase, Cerebral white matter atr...	ORPHA:263487
Japanese Encephalitis	Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int...	ORPHA:79139
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon...	ORPHA:785
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Bronchiectasis, Emphysema, Recurrent bronchopulmonary infections, Recurren...	OMIM:242700
Lymphangioleiomyomatosis	Shagreen patch, Restrictive ventilatory defect, Cognitive impairment, Dyspnea, Lymphedema, Emphys...	ORPHA:538
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Exertional dyspnea, Respiratory insufficiency due to muscle weakness, Glycosuria, Hepatomegaly, P...	ORPHA:436271
Cutis Laxa, Autosomal Recessive, Type Ia	Oligohydramnios, Emphysema, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, M...	OMIM:219100
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Hypoplasia of the corpus callosum, Abnormal cerebral white matt...	OMIM:616672
Late-Onset Isolated Acth Deficiency	Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis...	ORPHA:199299
Apparent Mineralocorticoid Excess	Abnormality of circulating cortisol level, Decreased circulating renin level, Decreased circulati...	ORPHA:320
Familial Acute Necrotizing Encephalopathy	Abnormality of thalamus morphology, Abnormal brainstem MRI signal intensity, Abnormal brainstem m...	ORPHA:88619
Pediatric-Onset Graves Disease	Polydipsia, Polyphagia	ORPHA:525731
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cerebral atrophy, Hypoglycemia, ...	OMIM:124000
Leigh Syndrome	Abnormal brainstem MRI signal intensity, Progressive neurologic deterioration, Focal T2 hyperinte...	ORPHA:506
Joubert Syndrome 2	Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Episodi...	OMIM:608091
Chromosome Xq26.3 Duplication Syndrome	Polyphagia	OMIM:300942
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Type I diabet...	ORPHA:96180
Gangliocytoma	Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Dementia, ...	ORPHA:251937
Acute Adrenal Insufficiency	Androgen insufficiency, Adrenal hypoplasia, Decreased circulating cortisol level, Primary adrenal...	ORPHA:95409
Abdominal Obesity-Metabolic Syndrome 3	Hypercholesterolemia	OMIM:615812
Fructose Intolerance, Hereditary	Hypophosphatemia, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia...	OMIM:229600
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia, Failure to thrive	OMIM:602579
Amoebiasis Due To Free-Living Amoebae	Abnormal brainstem MRI signal intensity, Respiratory tract infection, Abnormal hypothalamus morph...	ORPHA:68
3-Methylglutaconic Aciduria, Type V	Cryptorchidism, Decreased testicular size, Microvesicular hepatic steatosis	OMIM:610198
Adrenomyodystrophy	Hepatic steatosis, Primary adrenal insufficiency	ORPHA:977
Mental Retardation, Autosomal Dominant 1	Polyphagia	OMIM:156200
Luscan-Lumish Syndrome	Polyphagia	OMIM:616831
Bile Acid Synthesis Defect, Congenital, 1	Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia	OMIM:607765
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Cirrhosis, Increased circulating gonadotropin level, Abnormality...	ORPHA:99413
Turner Syndrome	Premature ovarian insufficiency, Cirrhosis, Increased circulating gonadotropin level, Abnormality...	ORPHA:881
Mosaic Monosomy X	Premature ovarian insufficiency, Cirrhosis, Increased circulating gonadotropin level, Abnormality...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Cirrhosis, Increased circulating gonadotropin level, Abnormality...	ORPHA:99226
Meier-Gorlin Syndrome 6	Cryptorchidism, Short nose, Underdeveloped nasal alae, Emphysema, Decreased response to growth ho...	OMIM:616835
Joubert Syndrome 1	Hypoplasia of the brainstem, Brainstem dysplasia, Episodic tachypnea, Central apnea, Hepatic fibr...	OMIM:213300
Alström Syndrome	Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A...	ORPHA:64
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplasia, Facial e...	ORPHA:226307
Arima Syndrome	Hypoplasia of the brainstem, Dyspnea, Brainstem dysplasia, Hepatic steatosis, Hepatic fibrosis, H...	OMIM:243910
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hyperuricemia, Jaundice, Abnorm...	ORPHA:93111
Meningioma	Brain stem compression, Enlarged pituitary gland, Pituitary hypothyroidism, Memory impairment, Ab...	ORPHA:2495
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Exertional dyspnea, Increased hepatocellular lipid droplets, Respiratory in...	OMIM:220110
Adult Krabbe Disease	Progressive neurologic deterioration, Abnormal midbrain morphology, Abnormal corpus callosum morp...	ORPHA:206448
Glycogen Storage Disease Ia	Xanthelasma, Elevated hepatic transaminase, Hepatocellular carcinoma, Hyperuricemia, Hypoglycemia...	OMIM:232200
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Abnormality of the anterior commissure, Midline brainstem c...	OMIM:617542
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypotrig...	ORPHA:404454
Secondary Short Bowel Syndrome	Polyphagia	ORPHA:95427
Arnold-Chiari Malformation Type Ii	Apnea, Brain stem compression, Inspiratory stridor, Pneumonia, Aqueductal stenosis, Polymicrogyri...	ORPHA:1136
Nocardiosis	Peritonitis, Abnormal sputum, Pleuritis, Cellulitis, Respiratory distress, Dyspnea, Pleural effus...	ORPHA:31204
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Polyphagia	OMIM:607485
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Dementia...	OMIM:203700
Glycogen Storage Disease Ib	Xanthelasma, Elevated hepatic transaminase, Hepatocellular carcinoma, Hyperuricemia, Hypoglycemia...	OMIM:232220
Addison Disease	Androgen insufficiency, Adrenal hypoplasia, Hypoparathyroidism, Adrenal calcification, Decreased ...	ORPHA:85138
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Congenital generalized lipodystrophy, Type II diabetes mellitus, Increased subcut...	ORPHA:3455
Acute Disseminated Encephalomyelitis	Abnormal brainstem MRI signal intensity, Diffuse white matter abnormalities, Hypointensity of cer...	ORPHA:83597
Combined Oxidative Phosphorylation Defect Type 23	Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Respiratory fail...	ORPHA:444013
Common Variable Immunodeficiency	Recurrent bronchitis, Restrictive ventilatory defect, Elevated hepatic transaminase, Bronchiectas...	ORPHA:1572
Netherton Syndrome	Emphysema, Asthma, Recurrent respiratory infections, Dehydration	ORPHA:634
Cutis Laxa, Autosomal Recessive, Type Ic	Emphysema, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Umbilical hernia, Inguinal hernia, ...	OMIM:613177
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal brainstem morphology, Agyria, Elevate...	ORPHA:370997
Paternal Uniparental Disomy Of Chromosome 1	Polyphagia	ORPHA:251004
47,Xyy Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Macroorchidism, Abnormal brainstem morp...	ORPHA:8
Fabry Disease	Dyspnea, Chronic pulmonary obstruction, Lymphedema, Emphysema, Abnormal circulating lipid concent...	ORPHA:324
Angelman Syndrome	Dysphagia, Polyphagia	ORPHA:72
Glycogen Storage Disease Ic	Xanthelasma, Chronic pancreatitis, Hepatocellular carcinoma, Hyperuricemia, Hypoglycemia, Hepatom...	OMIM:232240
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Polyphagia	ORPHA:251028
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus	OMIM:616026
Rabson-Mendenhall Syndrome	Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Impaired glucose tolerance, Postprandia...	ORPHA:769
Cerebellar-Facial-Dental Syndrome	Cryptorchidism, Hypoplasia of the brainstem, Abnormal midbrain morphology, Hypoplasia of the corp...	ORPHA:444072
Sarcoidosis, Susceptibility To, 1	Restrictive ventilatory defect, Enlarged lacrimal glands, Dyspnea, Bronchiectasis, Pulmonary fibr...	OMIM:181000
Meier-Gorlin Syndrome 4	Microcephaly, Emphysema, Cryptorchidism, Breast hypoplasia	OMIM:613804
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatic steatosis, Cerebral atrophy, Hepatomegaly, Elevated circul...	OMIM:615356
Cortisone Reductase Deficiency 2	Obesity, Premature pubarche, Insulin resistance	OMIM:614662
Tetraamelia Syndrome 1	Choanal atresia, Pulmonary hypoplasia, Asplenia, Peripheral pulmonary vessel aplasia, Single nari...	OMIM:273395
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Cryptorchidism, Flexion contracture of finger, Oligohydramnios, Hypoplasia of the...	ORPHA:464311
Sim1-Related Prader-Willi-Like Syndrome	Polyphagia	ORPHA:398079
Sarcoidosis	Joint swelling, Bronchiectasis, Cough, Decreased liver function, Hypercalcemia, Abnormal nasal mu...	ORPHA:797
Hepatocellular Carcinoma	Abnormality of the hepatic vasculature, Anasarca, Elevated hepatic transaminase, Dyspnea, Hemobil...	ORPHA:88673
Homozygous Familial Hypercholesterolemia	Hypercholesterolemia, Dyspnea, Hepatic steatosis, Increased LDL cholesterol concentration, Hyperl...	ORPHA:391665
Semilobar Holoprosencephaly	Panhypopituitarism, Abnormality of the endocrine system, Abnormal pattern of respiration, Flexion...	ORPHA:220386
Alobar Holoprosencephaly	Panhypopituitarism, Abnormality of the endocrine system, Abnormal pattern of respiration, Flexion...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Panhypopituitarism, Abnormality of the endocrine system, Abnormal pattern of respiration, Flexion...	ORPHA:93926
Lobar Holoprosencephaly	Panhypopituitarism, Abnormality of the endocrine system, Abnormal pattern of respiration, Flexion...	ORPHA:93924
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Visceral Steatosis, Congenital	Hypocalcemia, Jaundice, Hepatic steatosis, Hypoglycemia	OMIM:228100
Magel2-Related Prader-Willi-Like Syndrome	Polyphagia	ORPHA:398069
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Hydrops fetalis, Anencephaly, Polymicrogyria, Pulmonary hypoplasia, Congenital di...	OMIM:616546
Lowe Oculocerebrorenal Syndrome	Enamel hypoplasia, Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Camptodactyly...	OMIM:309000
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Polyphagia, Bulimia	ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Polyphagia, Bulimia	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Polyphagia, Bulimia	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Polyphagia, Bulimia	ORPHA:177901
Combined Oxidative Phosphorylation Defect Type 7	Abnormal brainstem MRI signal intensity, Hypoplasia of the corpus callosum, Abnormal cerebral whi...	ORPHA:254930
Tyrosinemia, Type I	Cirrhosis, Elevated hepatic transaminase, Hypertyrosinemia, Hypophosphatemic rickets, Hepatocellu...	OMIM:276700
Prader-Willi Syndrome	Polyphagia	OMIM:176270
7Q11.23 Microduplication Syndrome	Polyphagia	ORPHA:96121
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Short nose, Hepatic steatosis, Decreased testicular size, Flexion contracture, Microcep...	OMIM:619321
Prader-Willi-Like Syndrome	Polyphagia, Bulimia	ORPHA:398073
Familial Cerebral Saccular Aneurysm	Encephalomalacia, Abnormal brainstem morphology	ORPHA:231160
Leprechaunism	Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos...	ORPHA:508
Loeys-Dietz Syndrome 4	Emphysema, Inguinal hernia, Pneumothorax	OMIM:614816
1P36 Deletion Syndrome	Camptodactyly of finger, Cryptorchidism, Agenesis of corpus callosum, Hepatic steatosis, Hypothyr...	ORPHA:1606
Prader-Willi Syndrome	Polyphagia	ORPHA:739
Fragile X-Associated Tremor/Ataxia Syndrome	Dementia, Hypothyroidism, Cerebral cortical atrophy, Abnormal brainstem morphology, Memory impair...	ORPHA:93256
Primary Fanconi Renotubular Syndrome	Decreased plasma carnitine, Hypophosphatemia, Pulmonary fibrosis, Hypouricemia, Hypophosphatemic ...	ORPHA:3337
Adnp Syndrome	Polyphagia, Oral-pharyngeal dysphagia	ORPHA:404448
Cutis Laxa, Autosomal Recessive, Type Ib	Bulbous nose, Oligohydramnios, Emphysema, Pulmonary artery aneurysm, Inguinal hernia, Congenital ...	OMIM:614437
Ethylmalonic Encephalopathy	Abnormal brainstem MRI signal intensity, Abnormal basal ganglia MRI signal intensity	ORPHA:51188
Duplication Of The Pituitary Gland	Polyhydramnios, Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Abnormal mi...	ORPHA:314621
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cryptorchidism, Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hypoplasia of the...	OMIM:236670
Pseudohypoparathyroidism Type 1C	Polyphagia	ORPHA:79444
Craniopharyngioma	Polyphagia	ORPHA:54595
Neonatal Marfan Syndrome	Emphysema, Flexion contracture, Lipoatrophy, Wide nasal bridge, Neonatal respiratory distress, De...	ORPHA:284979
Tenorio Syndrome	Hypoinsulinemia, Hypoglycemia	OMIM:616260
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Hypoglycemia, Insulin resistance	ORPHA:230
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of the diencephalon, Abnormal brainstem morphology	ORPHA:2720
Autosomal Recessive Cutis Laxa Type 1	Emphysema, Peripheral pulmonary artery stenosis, Respiratory insufficiency, Inguinal hernia, Hern...	ORPHA:90349
Early-Onset Schizophrenia	Polyphagia	ORPHA:96369
Pseudohypoparathyroidism Type 1A	Polyphagia	ORPHA:79443
Ehlers-Danlos Syndrome, Vascular Type	Spontaneous pneumothorax, Cryptorchidism, Cigarette-paper scars, Emphysema, Pulmonary bulla, Hemo...	OMIM:130050
Woodhouse-Sakati Syndrome	Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube...	ORPHA:3464
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation	Exocrine pancreatic insufficiency, Emphysema, Biliary cirrhosis, Wide nasal bridge, Recurrent bro...	OMIM:219721
Listeriosis	Peritonitis, Abnormal brainstem MRI signal intensity, Respiratory distress, Splenic abscess, Pneu...	ORPHA:533
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia	OMIM:244450
Tick-Borne Encephalitis	Abnormal brainstem MRI signal intensity, Elevated hepatic transaminase, Elevated circulating C-re...	ORPHA:297
Keutel Syndrome	Recurrent bronchitis, Emphysema, Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasi...	OMIM:245150
Ellis Van Creveld Syndrome	Cryptorchidism, Emphysema, Aplasia/Hypoplasia of the lungs	ORPHA:289
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Short nose, Hypoplasia of the corpus callosum, Emphysema, Abnormal cere...	ORPHA:500150
Marfan Syndrome	Emphysema, Flexion contracture, Camptodactyly, Pneumothorax, Reduced subcutaneous adipose tissue,...	OMIM:154700
Marfan Syndrome	Spontaneous pneumothorax, Emphysema, Inguinal hernia, Hemoptysis, Pulmonary artery dilatation	ORPHA:558
Paget Disease Of Bone 2, Early-Onset	Brain stem compression	OMIM:602080
Smith-Lemli-Opitz Syndrome	Elevated 7-dehydrocholesterol, Hypocholesterolemia	OMIM:270400
Osteogenesis Imperfecta	Abnormal dental enamel morphology, Brain stem compression, Flexion contracture, Umbilical hernia,...	ORPHA:666
Chromosome 1P36 Deletion Syndrome	Dysphagia, Polyphagia	OMIM:607872
Arnold-Chiari Malformation Type I

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