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Gene: Hsd11b1 MGI:103562

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

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
Insulin resistance, Obesity, Premature pubarche OMIM:614662

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:610717
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Increased circulating cortisol lev... OMIM:615830
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Analbuminemia
Lipodystrophy, Edema, Elevated circulating transferrin concentration, Increased LDL cholesterol c... OMIM:616000
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pneumonia,... ORPHA:90790
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... ORPHA:436182
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:151660
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor OMIM:614278
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... OMIM:615980
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... OMIM:608709
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Increased circulating renin level, Increased cir... OMIM:610600
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Abnormal pulmonary interstit... OMIM:619013
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Congenital adrenal hyp... ORPHA:90791
Galactokinase Deficiency
Psychomotor deterioration, Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Neonatal a... ORPHA:79237
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Precocious puberty in femal... ORPHA:528
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... ORPHA:251274
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... OMIM:615381
Obesity And Hypopigmentation
Polyphagia OMIM:620195
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Aggressive behavior ORPHA:329249
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Hypercholesterolemia, Abnormality of the endocrine system, Abnormality of the ... ORPHA:77296
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556037
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... OMIM:617872
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... ORPHA:79083
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Congenital Analbuminemia
Lipodystrophy, Edema, Facial edema, Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoal... ORPHA:86816
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Confusion, Portal inflammation, Elevated circulating alanine aminotransfera... OMIM:603471
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... ORPHA:247585
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... ORPHA:2348
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Recurrent respiratory infections, Hypoglycemia, Hyperlipidemia, Hyperuricemia, Cognitive impairment ORPHA:364
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619386
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Edema, Pulmonary embolism, Respiratory tract infection, Periorbital edema, ... ORPHA:567548
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Hypokalemia, Hyperaldosteronism, Dexa... ORPHA:369929
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, F... OMIM:616222
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis OMIM:261650
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556030
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc... OMIM:619048
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic steatosis, Ketotic hypoglycemia, Respir... ORPHA:26792
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Laron Syndrome
Abnormality of the endocrine system, Hypercholesterolemia, Hypoglycemia, Delayed puberty ORPHA:633
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Recurrent upper respiratory tract ... ORPHA:263501
Cushing Disease
Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Paradoxical incr... ORPHA:96253
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis ORPHA:79087
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis, Hypoalbuminemia OMIM:620357
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... OMIM:605814
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic choles... ORPHA:69663
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ... ORPHA:324575
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... ORPHA:264580
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... ORPHA:293964
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... OMIM:248370
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Aggressive behavior OMIM:614963
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat... ORPHA:369
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Decreased HDL choleste... ORPHA:412
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... ORPHA:79086
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... ORPHA:71212
Bardet-Biedl Syndrome 22
Polyphagia OMIM:617119
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Leptin Deficiency Or Dysfunction
Polyphagia OMIM:614962
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Elevated... ORPHA:79240
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... OMIM:203800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Hyperlipidemia, ... ORPHA:444490
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Dementia, Hypoalbuminemia, Cognitive impairme... OMIM:208920
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Progressive neurologic deterioration, Memory impairment, Cognitive impairment, H... ORPHA:90065
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema... OMIM:613490
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairment, Atro... OMIM:616267
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... ORPHA:276580
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... ORPHA:399
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism ORPHA:96184
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Jaundice, Adrenal h... OMIM:201400
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Macroorchidism, Facial edema, Go... ORPHA:90674
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia OMIM:620085
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate amino... OMIM:617253
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Apnea, Elevated circulating alanine aminotransferase concentration, L... OMIM:261680
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter ORPHA:411515
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat... ORPHA:79126
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Asbestos Intoxication
Reduced vital capacity, Edema, Reduced forced vital capacity, Atelectasis, Pleural thickening, No... ORPHA:2302
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Microvesicular hepatic steatosis, Dehydration, Hepatic fibrosis, Hyponatre... ORPHA:275761
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... ORPHA:363618
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Mic... OMIM:619418
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, ... ORPHA:70588
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... OMIM:144650
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fas... ORPHA:276575
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m... OMIM:608594
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Hypothyroid... OMIM:615486
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Confusion, Respiratory insufficiency ORPHA:263410
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... OMIM:610978
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Elevated circulating creatine kinase concentration, Increased muscle lipid content, Knee f... OMIM:608836
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Epistaxis, Hypothyroidism, Hyperlipidemia, Dela... ORPHA:79259
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H... ORPHA:470
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... OMIM:264470
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Hemochromatosis, Neonatal
Hypoglycemia, Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Cholestasi... OMIM:231100
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
6Q16 Microdeletion Syndrome
Polyphagia, Abnormal temper tantrums ORPHA:171829
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Atelectasis, Achilles tendon contracture, Dec... ORPHA:254361
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf... ORPHA:2088
Macrocephaly-Intellectual Disability-Autism Syndrome
Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention deficit hyperactivit... ORPHA:210548
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulat... OMIM:251880
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia... ORPHA:101330
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Hypoglycemia, Jaundice, Pulmonary hypoplasia, Glycosuria, Ele... OMIM:231680
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia OMIM:275000
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... ORPHA:228308
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... ORPHA:71
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Tachyp... OMIM:201475
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Hypergonadotropic hypogonadism, Nonimmune hydrops fe... OMIM:212065
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Hypoglycemia, Episodic tachypn... ORPHA:348
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Cognitive impairment ORPHA:1532
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Birt-Hogg-Dubé Syndrome
Pneumothorax, Multiple lipomas, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullar... ORPHA:122
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Polyphagia ORPHA:276556
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... ORPHA:79303
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Crackles, Atelectasis, Hypersensitivity pn... ORPHA:2902
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Edema, Pedal edema, Hyp... OMIM:277900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Hypoalbuminemia, Hypocalcemia, Cough, Emphysema, Hepatic steatosis, Portal hypertensio... OMIM:613658
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:617093
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Confusion, Recurrent upper respiratory tract infections, Hyperammonemia, Pancreatitis OMIM:620137
Smith-Magenis Syndrome
Hypertriglyceridemia, Precocious puberty, Attention deficit hyperactivity disorder, Delayed puber... ORPHA:819
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Elevated circulating C... OMIM:620321
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Hepatic steatosis, Decreased liver function, Progressive neurologic deterior... ORPHA:70472
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:212138
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617049
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... OMIM:235200
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism ORPHA:300536
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hypothyroidism, Pneumothorax, Respiratory failure, Hepatic steatos... ORPHA:445038
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia,... OMIM:277460
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Respiratory distress, Hypoglycemia, Elevated circulating asp... OMIM:256810
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dilatation, Cognitive im... ORPHA:300573
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Cerebral edema OMIM:201450
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Polyhydramnios, Flexion contracture, Recurrent pneumonia, Dehydration, Hepa... OMIM:616271
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia... OMIM:612387
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypergonado... ORPHA:2959
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Edema, Cryptorchidism, Hypoalbuminemia, Adrenal insufficiency... OMIM:617575
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulati... ORPHA:99901
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Lennox-Gastaut Syndrome
Mental deterioration, Abnormal brainstem morphology ORPHA:2382
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... ORPHA:541423
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Edema OMIM:618348
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Progressive neurologic deterioration, Abnormal circu... ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia OMIM:615918
Temple Syndrome
Polyphagia ORPHA:254516
Schaaf-Yang Syndrome
Skin-picking, Polyphagia, Impulsivity OMIM:615547
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... ORPHA:2357
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital p... OMIM:611812
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypothyroidism, Hyperlipidemia, Cryptorchidism, Arthrogryposis multiplex cong... ORPHA:254346
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Dyspnea, Hyperproteinemia, Increased circu... ORPHA:90041
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Ravine Syndrome
Apnea, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Abnormal brainstem morphology, Abnormal circulating pyruvate family ... ORPHA:255182
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... OMIM:231530
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Very long c... ORPHA:98908
Cebalid Syndrome
Polyphagia OMIM:618774
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Progressive neurologic deterioration, Respiratory in... OMIM:618329
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... OMIM:618805
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... OMIM:614736
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Decreased DLCO, Pulmonary fibrosis, Glycosuria, Hypophosphatemic rickets, Emphy... OMIM:618913
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Sparse axillary h... ORPHA:90796
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure ORPHA:156
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... OMIM:616263
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Abnormality ... ORPHA:699
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Respiratory distress, Hypoglycemia, Polyhydramni... OMIM:617156
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Frontotemporal dementia, Hepatic steatosis, Elevated circulating creatine kinase concentration, W... ORPHA:52430
Bardet-Biedl Syndrome 19
Hypogonadism, Hepatic steatosis OMIM:615996
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Increased connective tissue, Abnormal brainstem MRI signal intensity, Atelectasi... ORPHA:258
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:614582
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Polyhydramnios, Non-medullary thyroid carc... ORPHA:273
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... OMIM:616433
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LDL cholestero... OMIM:618156
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia, Camptodactyly ORPHA:444051
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial m... OMIM:620233
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... ORPHA:2298
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Edema, Peri... OMIM:619487
Hypotonia-Cystinuria Syndrome
Polyphagia OMIM:606407
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Nonimmune hydrops fetalis, Hypoglycemia, Elevated circulati... OMIM:618838
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Dehydration, Hyponatremia, Abnormal dental enamel morphology,... ORPHA:534
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... OMIM:614300
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Intrahepatic cholestasis with episodic jaund... ORPHA:333
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... OMIM:131100
Neuhauser Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Decreased circulating cortisol level, Very long chain fatty acid accumulati... ORPHA:139396
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... OMIM:619573
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... ORPHA:98907
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Dem... ORPHA:298
Man1B1-Cdg
Polyphagia ORPHA:397941
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Aqueductal s... OMIM:619534
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Polyhydramnios, Congenital hypothyroidism, Aspiration ... ORPHA:79500
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Methylmalonic acid... ORPHA:17
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Hypoglycemia, Apnea OMIM:210200
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism ORPHA:2479
Atypical Werner Syndrome
Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, ... ORPHA:79474
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Atroph... ORPHA:66634
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Hepatic failure, C... OMIM:611126
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Abnormal brainstem morphology, Elevated circulating creat... ORPHA:370022
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, Elevated circulati... OMIM:618835
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Neoplasm of the lung, Neop... ORPHA:2126
Angelman Syndrome
Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Inappropriate laug... ORPHA:72
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypothyroid... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, Elevated circulati... OMIM:618839
Monosomy 13Q34
Hepatic steatosis, Epistaxis, Hypercalcemia, Insulin resistance, Agenesis of corpus callosum ORPHA:96168
Wagro Syndrome
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior OMIM:612469
Sitosterolemia 1
Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol concentration, Xanthel... OMIM:210250
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Confusion, Elevated circulating C-reactive p... ORPHA:319213
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Cholestasis, Respiratory insufficiency, Respiratory failure, Hypocalcemia, Di... ORPHA:746
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Liver Disease, Severe Congenital
Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Cough, Pancreatic hypopla... OMIM:619991
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Respiratory failure, Cognitive impairment, Atrophy/Degeneration af... ORPHA:98755
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... OMIM:118450
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia OMIM:609734
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Apnea, ... ORPHA:20
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Pulmonary fibrosis, Type I diabetes mellitus, Emphysema OMIM:620365
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Unilateral cryptorchidism, Polyhydramnios, Bilateral cryptorchidism, Atelec... OMIM:300219
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immo... OMIM:244400
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Restrictive ventilatory defect, Abnormal circulating... ORPHA:369840
Luscan-Lumish Syndrome
Polyphagia, Aggressive behavior OMIM:616831
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Bilateral cryptorchidism, Asthma, Male hypogonadism, Hypercholeste... OMIM:619471
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Camptodactyly of finger ORPHA:896
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size OMIM:610644
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Abnormal brainstem morphology, Lymphedema ORPHA:79279
Lymphangioleiomyomatosis
Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, Pneumothorax, Chylopericardiu... ORPHA:538
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... OMIM:156200
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Septopreoptic Holoprosencephaly
Short attention span, Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, A... ORPHA:280195
Bloom Syndrome
Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract infections, Bronchiect... OMIM:210900
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary ... OMIM:617303
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Adrenal hypoplasia, Morga... OMIM:613177
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas... OMIM:246200
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Pontocerebellar atrophy, Hypogonad... OMIM:619273
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Pediatric-Onset Graves Disease
Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Hyperhomocystinemia, Hypermethioninemia, Hepatic steatosis, Pancreatitis OMIM:236200
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Femoral hernia ORPHA:2849
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Polyhydramnios, Respiratory failure, Decreased liver function, Hepatic steatosis OMIM:614922
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Congenital Muscular Dystrophy With Cerebellar Involvement
Elevated circulating creatine kinase concentration, Olivopontocerebellar hypoplasia, Hypoplasia o... ORPHA:370959
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hepatomegaly, Atelectasis, Microvesicular hepatic steatosis, Ta... OMIM:618278
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Polyhydramn... OMIM:261515
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... ORPHA:300373
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:610198
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hepatomegaly, Inguinal hernia, Edema, Polyhydramnios, Splenomegaly, Atelectasis, Res... OMIM:269860
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Premature adrenar... ORPHA:293987
Slc35A2-Cdg
Elevated hepatic transaminase, Increased circulating thyroglobulin level, Limb joint contracture,... ORPHA:356961
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity, Dementia ORPHA:320365
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Xanth... OMIM:232200
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior ORPHA:251028
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal brainstem morphology, Attention deficit hyperactivity disorder ORPHA:467166
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hypot... OMIM:188400
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... ORPHA:320
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Pneumonia, Edema, Pericardial effusion, Splenomegaly, Increased circulating ferriti... OMIM:615846
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Adrenal hypoplas... ORPHA:95409
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Asthma, Cholestasis, Dehydration, Hypokalemia, Portal fibrosis,... OMIM:619377
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Abnormal brainstem morphology, Episodic tachypnea ORPHA:163961
Autosomal Dominant Hyper-Ige Syndrome
Cough, Atelectasis, Recurrent respiratory infections, Cellulitis ORPHA:2314
Secondary Short Bowel Syndrome
Polyphagia ORPHA:95427
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Cough, Atelectasis, Splenomegaly, Recurrent pneumonia, Cellulitis, P... OMIM:306400
Combined Oxidative Phosphorylation Deficiency 27
Mental deterioration, Microvesicular hepatic steatosis, Hyperammonemia OMIM:616672
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi... OMIM:619127
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Elevated circulating creatine kinase concentration... ORPHA:365
Zygomycosis
Fasciitis, Diabetes mellitus, Sinusitis, Epistaxis, Cough, Atelectasis, Peritonitis, Pneumothorax... ORPHA:73263
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:98793
Joubert Syndrome 7
Central apnea, Brainstem dysplasia, Episodic tachypnea, Tachypnea, Hypoplasia of the brainstem, M... OMIM:611560
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:177904
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Recurrent upper respiratory tra... OMIM:232240
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Respiratory insufficiency due to muscle weakness, Decreased liver function, Glycosu... ORPHA:436271
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:177901
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... ORPHA:93111
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Hypoplasia of the brainstem, Kinked brainstem, Camptodactyly, Arthro... OMIM:617822
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Polyphagia ORPHA:398069
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Polyhydramnios, Abnormal lung lobation, Adrenal gland dysgenesis, ... OMIM:236680
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphagia ORPHA:98754
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... OMIM:220110
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Precocious puberty, Splenomegaly, Partial agenesis of the corpus callosum, Cryptorc... OMIM:270400
Sim1-Related Prader-Willi-Like Syndrome
Skin-picking, Polyphagia, Abnormal temper tantrums ORPHA:398079
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Polyhydramnios, Microvesicular hepatic steatosis, Flexion contract... OMIM:300868
47,Xyy Syndrome
Cryptorchidism, Asthma, Increased circulating gonadotropin level, Abnormal brainstem morphology, ... ORPHA:8
Ogden Syndrome
Apnea, Maternal diabetes, Lymphedema, Microvesicular hepatic steatosis, Macrovesicular hepatic st... OMIM:300855
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat... OMIM:229600
Japanese Encephalitis
Hyponatremia, Respiratory distress, Irregular respiration, Abnormal substantia nigra morphology, ... ORPHA:79139
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:64
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Splenomegaly, Hyp... OMIM:232220
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia ORPHA:251004
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Abnormal medulla oblongata morphology, Pneumonia, Abnormal midbrain morphology, Confus... ORPHA:68
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Abnormal ... ORPHA:96121
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Limb joint contrac... ORPHA:404454
Arima Syndrome
Hepatomegaly, Brainstem dysplasia, Dyspnea, Tachypnea, Hypoplasia of the brainstem, Hepatic fibro... OMIM:243910
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnormal pattern of respi... ORPHA:88619
Adnp Syndrome
Aggressive behavior, Oral-pharyngeal dysphagia, Abnormal temper tantrums, Attention deficit hyper... ORPHA:404448
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Hypoventilation, Microvesicul... OMIM:203700
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Leigh Syndrome
Multiple joint contractures, Hypoglycemia, Progressive neurologic deterioration, Abnormal brainst... ORPHA:506
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypopla... OMIM:273395
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Camptodactyly of finger, ... ORPHA:3455
Prader-Willi Syndrome
Self-injurious behavior, Polyphagia, Attention deficit hyperactivity disorder OMIM:176270
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Camptodactyly of finger, Elevated circulating creatine kinase concentration... OMIM:309000
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic st... OMIM:220111
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Abnormal adipose tissue morphology, Hypoalbuminemia, Hypoch... ORPHA:79324
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, High urinary gonadotropin level, Lymphedema, Increased circulating... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, High urinary gonadotropin level, Lymphedema, Increased circulating... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, High urinary gonadotropin level, Lymphedema, Increased circulating... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, High urinary gonadotropin level, Lymphedema, Increased circulating... ORPHA:99226
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Repeated pneumothoraces, Atelectasis, Respirat... ORPHA:536467
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical her... OMIM:219100
Weaver Syndrome
Polyphagia OMIM:277590
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Fabry Disease
Lymphedema, Dyspnea, Hyperlipidemia, Chronic pulmonary obstruction, Respiratory insufficiency, Co... ORPHA:324
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... OMIM:615067
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Compulsive behaviors, Dysphagia, Attentio... OMIM:615873
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea, Cognit... ORPHA:444013
Prader-Willi Syndrome
Polyphagia, Attention deficit hyperactivity disorder ORPHA:739
Semilobar Holoprosencephaly
Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:93924
Nocardiosis
Respiratory distress, Liver abscess, Pneumonia, Productive cough, Nonproductive cough, Peritoniti... ORPHA:31204
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Agenesis of corpus callosum, Midline brainstem cleft OMIM:617542
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Polyhydr... ORPHA:567
Acute Disseminated Encephalomyelitis
Viral hepatitis, Respiratory failure requiring assisted ventilation, Confusion, Abnormal brainste... ORPHA:83597
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Splenomegaly, Bronchi... ORPHA:1572
Adult Krabbe Disease
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Progressive neurologic deter... ORPHA:206448
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin... OMIM:615356
Sarcoidosis
Abnormal nasal mucosa morphology, Abnormal lung morphology, Cough, Emphysema, Hypothyroidism, Hep... ORPHA:797
Homozygous Familial Hypercholesterolemia
Dyspnea, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic s... ORPHA:391665
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Abnormal brainstem morphology, Elevated circulating creatine kinase con... ORPHA:370997
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture,... OMIM:619503
Achondroplasia
Respiratory distress, Polyhydramnios, Upper airway obstruction, Brain stem compression, Pulmonary... OMIM:100800
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Dyspnea, Emphysema, Enlarged lacrimal glands, B... OMIM:181000
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the pons, Hypoplasia of the brainstem, Enlarged tectum OMIM:618325
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Short attention span, Palpebral edema, Jaundice, Diminished abilit... OMIM:619475
Joubert Syndrome 1
Central apnea, Brainstem dysplasia, Episodic tachypnea, Hypoplasia of the brainstem, Hepatic fibr... OMIM:213300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Polyhydramnios, Ankle flexion contracture, Cryptorchidism, Abnormal brainstem morphology, Posteri... ORPHA:464311
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Pseudohypoparathyroidism Type 1C
Polyphagia ORPHA:79444
Craniopharyngioma
Polyphagia ORPHA:54595
Joubert Syndrome 2
Central apnea, Brainstem dysplasia, Episodic tachypnea, Thickened superior cerebellar peduncle, H... OMIM:608091
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger, Attention deficit hyperactivity disorder OMIM:619934
Pseudohypoparathyroidism Type 1A
Polyphagia ORPHA:79443
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Polyhydramnios, Abnormal pituitary gland morphology, Abnormal hypot... ORPHA:314621
Relapsing Polychondritis
Dyspnea, Atelectasis, Hepatitis, Cough, Abnormal pattern of respiration ORPHA:728
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Cognitive impairment ORPHA:254930
Tick-Borne Encephalitis
Elevated hepatic transaminase, Abnormal medulla oblongata morphology, Elevated circulating C-reac... ORPHA:297
Fragile X-Associated Tremor/Ataxia Syndrome
Memory impairment, Dementia, Abnormal brainstem morphology, Hypothyroidism ORPHA:93256
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Dubowitz Syndrome
Inguinal hernia, Hypocholesterolemia OMIM:223370
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
1P36 Deletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia ORPHA:1606
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Hypoplasia of the ovary, Azotemia, Hepatic steatosis, Decreased testicular size OMIM:619321
Listeriosis
Respiratory distress, Liver abscess, Pneumonia, Abnormal brainstem MRI signal intensity, Jaundice... ORPHA:533
Cutis Laxa, Autosomal Dominant 1
Inguinal hernia, Dyspnea, Bronchiectasis, Uterine prolapse, Emphysema, Peripheral pulmonary arter... OMIM:123700
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity ORPHA:51188
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Elevated circulating creatine kinase concentration, Cryptorchidism, Congenital contracture, Hypop... OMIM:236670
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder OMIM:607872
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Abnormal midbrain morphology, Hypoplasia of the pons, Cr... ORPHA:444072
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology ORPHA:2720
Paget Disease Of Bone 2, Early-Onset
Brain stem compression, Hypercalcemia OMIM:602080
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity ORPHA:83629
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, ... OMIM:130050
Chand Syndrome
Atelectasis ORPHA:1401
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Osteogenesis Imperfecta
Inguinal hernia, Neonatal respiratory distress, Abnormal dental enamel morphology, Flexion contra... ORPHA:666
African Trypanosomiasis
Abnormality of the endocrine system, Jaundice, Abnormality of renin-angiotensin system, Abnormal ... ORPHA:3385
Arnold-Chiari Malformation Type I
Brain stem compression ORPHA:268882
Full Nf2-Related Schwannomatosis
Memory impairment, Brain stem compression ORPHA:637
Pmm2-Cdg
Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadism, Elevated circulating g... ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hsd11b1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hsd11b1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Attenuated Activation of Homeostatic Glucocorticoid in Keratinocytes Induces Alloknesis via Aberrant Artemin Production. The Journal of investigative dermatology (February 2018) Hsd11b1tm1c(KOMP)Wtsi 29474943
Local Glucocorticoid Activation by 11β-Hydroxysteroid Dehydrogenase 1 in Keratinocytes: The Role in Hapten-Induced Dermatitis. The American journal of pathology (April 2016) Hsd11b1tm1c(KOMP)Wtsi Hsd11b1tm1a(KOMP)Wtsi 27070821
Local corticosterone activation by 11β-hydroxysteroid dehydrogenase 1 in keratinocytes: the role in narrow-band UVB-induced dermatitis. Dermato-endocrinology (January 2016) Hsd11b1tm1c(KOMP)Wtsi Hsd11b1tm1a(KOMP)Wtsi PMC4862380
11β-hydroxysteroid dehydrogenase 1 specific inhibitor increased dermal collagen content and promotes fibroblast proliferation. PloS one (March 2014) Hsd11b1tm1a(KOMP)Wtsi PMC3965512

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MGI Allele Allele Type Produced
Hsd11b1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hsd11b1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hsd11b1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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