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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
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