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Gene: Foxa1 MGI:1347472

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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:
forkhead box A1
Synonyms:
Tcf3a,  Hnf-3a,  Tcf-3a,  Hnf3a

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 Foxa1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Foxa1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... OMIM:262700
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Short stature, Growt... ORPHA:314802
Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin insensitivity, Mild postna... OMIM:615961
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula... OMIM:262400
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Postnatal growth retardation, Hyperlipidemia, Increas... OMIM:232700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Intrauterine growth retardation, Hypoglycemia OMIM:223500
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Intrauterine growth retar... ORPHA:99886
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Increased bo... OMIM:615830
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper... OMIM:620211
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... OMIM:202200
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Postnatal growth retardation, Decreased circulating aldosterone level, Elevate... ORPHA:556037
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Hyperglycemia, Intrauterine growth retardation, Diabetes me... OMIM:613370
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Postnatal growth retardation, Decreased circulating aldosterone level, Elevate... ORPHA:556030
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Postnatal growt... ORPHA:453533
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... ORPHA:438274
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Postnatal growth retardation, Decreased body weight, Hyperhidrosis, Short stature, ... ORPHA:231140
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Prolonged neonatal jaundice, Decr... ORPHA:199296
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Growth delay, Failure to thrive, Hypoglycemia, Hyperlipidemia,... ORPHA:369
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive, Intrauterine growt... OMIM:601410
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Obesit... OMIM:609734
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Small for gestational age, Hyperhidrosis, Hypoglycemia ORPHA:231147
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia OMIM:618838
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Failure to thrive, ... OMIM:617872
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Severe postnatal growth retardation, Central diabetes ins... ORPHA:411590
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Glycogen Storage Disease Ixc
Hypoglycemia, Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cir... OMIM:613027
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Combined Oxidative Phosphorylation Deficiency 50
Short stature, Intrauterine growth retardation, Adrenal insufficiency OMIM:619025
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... ORPHA:97287
Somatostatinoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97283
Vipoma
Intrahepatic cholestasis, Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating ... ORPHA:97282
Non-Acquired Isolated Growth Hormone Deficiency
Growth delay, Delayed puberty, Abdominal obesity, Prolonged neonatal jaundice, Neonatal hypoglyce... ORPHA:631
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hyperlipidemia, Hypoglycemia ORPHA:364
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Growth delay OMIM:306000
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia, Neonatal death OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia, Neonatal death OMIM:618839
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, ... ORPHA:2089
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia OMIM:610947
Obesity Due To Prohormone Convertase I Deficiency
Growth delay, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central ad... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Growth delay, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central ad... ORPHA:71526
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... OMIM:300148
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Hyp... OMIM:616113
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... ORPHA:199244
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Diarrhea 13
Hepatic steatosis, Failure to thrive, Recurrent hypoglycemia OMIM:620357
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... OMIM:171400
2P21 Microdeletion Syndrome
Hypogonadism, Growth delay, Failure to thrive, Hypoglycemia ORPHA:163693
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Glycogen Storage Disease Iii
Hepatic fibrosis, Hypoglycemia, Hyperlipidemia, Hepatomegaly, Short stature OMIM:232400
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Hepa... ORPHA:79237
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97280
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad... ORPHA:95496
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, Increased c... ORPHA:231625
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:94086
Glycogen Storage Disease Ixb
Growth delay, Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Short... OMIM:261750
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr... OMIM:300200
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97278
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hepatic steatosis, Hepatomegaly OMIM:619048
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Postnatal growth retardation, Hyperhidrosis, Short stature, Small for gestational age ORPHA:231137
Laron Syndrome
Severe short stature, Hypoglycemia, Hypohidrosis, Delayed puberty, Hypercholesterolemia, Truncal ... ORPHA:633
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Hyperinsulinemia, Obesity ORPHA:329249
Mccune-Albright Syndrome
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... ORPHA:562
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Postnatal growth retardation, ... ORPHA:73272
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive ORPHA:26792
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97261
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... OMIM:202010
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Diabetes mellitus, Smal... OMIM:606176
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... ORPHA:3143
Hemochromatosis, Neonatal
Hepatic fibrosis, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Intrauterine growth retarda... OMIM:231100
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... ORPHA:90791
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Hyperpitu... ORPHA:249
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Abnormal peritoneum mor... ORPHA:2126
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... ORPHA:90793
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... OMIM:617885
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Hypoglycemia OMIM:618958
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... OMIM:615925
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Pancreatic isl... ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Hepatic steatosis, Hypoglycemia OMIM:619386
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ... ORPHA:90790
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Silver-Russell Syndrome 2
Short stature, Intrauterine growth retardation, Neonatal hypoglycemia, Hyperhidrosis OMIM:618905
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adrenocorticotropin de... ORPHA:199299
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hypoglycemia OMIM:620137
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Intrauterine growth retardation, Hypoglycemia ORPHA:48431
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, ... ORPHA:254531
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Neonatal death, Hyperhidrosis, ... OMIM:245400
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Postnatal growth retardation, Decreased serum insulin-like growth factor 1, Delayed puberty, Shor... OMIM:618985
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia ORPHA:289504
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Elevated aldosterone:renin ratio OMIM:617027
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Combined Oxidative Phosphorylation Deficiency 10
Intrauterine growth retardation, Failure to thrive, Small for gestational age, Hypoglycemia OMIM:614702
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Short Stature, Dauber-Argente Type
Short stature, Postnatal growth retardation, Fasting hyperinsulinemia OMIM:619489
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Growth delay, Glycosuria, Failure to thrive, Abnormal hepatic glycoge... ORPHA:2088
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Aromatic L-Amino Acid Decarboxylase Deficiency
Failure to thrive, Hypoglycemia, Increased circulating prolactin concentration, Hyperhidrosis, Sh... ORPHA:35708
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia OMIM:615160
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Large for gestational age, Short stature, Hepatomegaly, Diabetes mellitus OMIM:616026
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246900
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Intrauterine growth retardation, Decreased body weight, Proportionate short stature... ORPHA:391408
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Recurrent hypoglycemia, D... ORPHA:293978
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Abnormal circulating leptin co... ORPHA:2298
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Failure to thrive, Fasting hyperinsulinemia, Hypoket... ORPHA:71212
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Immunodeficiency 54
Postnatal growth retardation, Adrenal insufficiency, Intrauterine growth retardation, Adrenocorti... OMIM:609981
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:5
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Hypoglycemia OMIM:618120
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... ORPHA:90795
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, Hypothyroidism, Smal... ORPHA:397590
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Growth delay, Failure to thrive, Hypoglycemia, Cholestasis, He... ORPHA:264580
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Transient hyperlipidemia, Hypoglycemia ORPHA:156
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Acute Adrenal Insufficiency
Failure to thrive, Hypoglycemia, Androgen insufficiency, Increased circulating ACTH level, Primar... ORPHA:95409
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Postnatal growth retard... OMIM:606407
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Addison Disease
Thymoma, Type I diabetes mellitus, Failure to thrive, Androgen insufficiency, Hypoglycemia, Adren... ORPHA:85138
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Short stature, Fasting hypoglycemia ORPHA:436174
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Failure to thrive, Adrenal calcification, Absence... ORPHA:289548
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:2394
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia, Intrauterine growth retardation, Hypothyroidism, Delayed puberty, Short s... OMIM:616817
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Failure to thrive, Absence of secondary sex chara... ORPHA:168558
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Fasting hypoglycemia, Hepatomega... OMIM:261680
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia OMIM:248360
Apparent Mineralocorticoid Excess
Failure to thrive, Intrauterine growth retardation, Abnormality of circulating cortisol level, De... ORPHA:320
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Reni Syndrome
Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypertriglyceridemia OMIM:617575
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Fasting h... OMIM:180860
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Recurrent hypoglycemia, Postnatal growth retardation, Splenomegaly, Increased b... ORPHA:79240
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Primary hypercortisolism, Adrenocorticotropic hormone excess, Hepatome... ORPHA:100079
Achalasia-Addisonianism-Alacrima Syndrome
Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldosterone le... OMIM:231550
Glycogen Storage Disease Ia
Growth delay, Hypoglycemia, Xanthelasma, Hyperlipidemia, Pancreatitis, Delayed puberty, Fasting h... OMIM:232200
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, ... ORPHA:96184
Classic Galactosemia
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Hepatomegaly, Jaundice ORPHA:79239
Mitochondrial Complex I Deficiency, Nuclear Type 16
Intrauterine growth retardation, Adrenal insufficiency OMIM:618238
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic fibrosis, Intrahepatic cholestasis, Failure to thrive, Hypoglycemia, Postnatal growth ret... OMIM:617093
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Growth delay, Failure to thrive, Hypoglycemia OMIM:615453
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... OMIM:615577
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia ORPHA:79096
Propionic Acidemia
Failure to thrive, Hypoglycemia, Pancreatitis, Hepatomegaly, Short stature OMIM:606054
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Growth delay OMIM:231530
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Increased circulating corticosterone level, Decr... OMIM:610600
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... ORPHA:90794
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Small for gestational age, Hypoglycemia OMIM:618253
Silver-Russell Syndrome
Premature adrenarche, Insulin resistance, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Failure to thrive OMIM:264350
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Severe intrauterine growth... OMIM:609069
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperactive renin-angiotensin sys... OMIM:177735
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi... ORPHA:226307
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level OMIM:611489
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Carnitine Deficiency, Systemic Primary
Failure to thrive, Recurrent hypoglycemia, Decreased carnitine level in liver, Microvesicular hep... OMIM:212140
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypoglycemia, Hepatic steatosis, Hepatomegaly, Steat... OMIM:605911
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Decreased s... OMIM:608747
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Hepatic steatosis, Hypoglycemia ORPHA:42
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Splenomegaly, Failure to thrive OMIM:619046
Infantile Liver Failure Syndrome 2
Jaundice, Hypoglycemia OMIM:616483
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism OMIM:605635
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Neonatal death, Neonatal hypogl... OMIM:619055
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Exocri... OMIM:619418
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Small f... OMIM:615935
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Hyperinsulinemia, Splenomegaly ORPHA:66518
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hypoglycemia OMIM:616355
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hypothyroidism, Short stature OMIM:618005
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Cirrhosis, Failure to thrive, Hypoglycemia OMIM:617049
Maple Syrup Urine Disease, Type Ia
Pancreatitis, Hypoglycemia OMIM:248600
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis OMIM:600649
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... ORPHA:769
Mirage Syndrome
Hypoglycemia, Adrenal insufficiency, Intrauterine growth retardation, Decreased body weight, Adre... OMIM:617053
Glycerol Kinase Deficiency
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Hypertrigly... OMIM:307030
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Severe sh... OMIM:617253
Triple A Syndrome
Short stature, Adrenal insufficiency, Anterior hypopituitarism ORPHA:869
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Delayed pube... OMIM:612079
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Hypoglycemia, Decrea... ORPHA:90695
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Truncal obe... OMIM:615812
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob... OMIM:618160
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Failure to thrive, Hypoglycemia OMIM:251000
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Follicular thyroid carcinoma, Increased circul... ORPHA:1359
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Smith-Kingsmore Syndrome
Large for gestational age, Rhizomelia, Hypoglycemia OMIM:616638
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Glycogen Storage Disease Ib
Hypoglycemia, Xanthelasma, Hyperlipidemia, Splenomegaly, Pancreatitis, Delayed puberty, Pancreati... OMIM:232220
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrhosis, Hypoglycemi... OMIM:251880
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Growth delay, Hepatitis, Hypoglycemia, Hepatic steatosis, Increased hep... OMIM:614921
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Long-Olsen-Distelmaier Syndrome
Failure to thrive, Hypoglycemia OMIM:620609
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, Hypoglycemia, Cho... OMIM:620454
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Hypoglycemia OMIM:617710
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Type I diabetes mellitus, Adrenal insufficiency, Primary adrenal insufficiency... OMIM:240300
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
Isolated Complex I Deficiency
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hepatomegaly, Diabetes mellitus ORPHA:2609
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Abnormal circulating aldosterone, Failure to thrive in infancy, Glucocortocoid-in... ORPHA:171876
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level ORPHA:43
Neurooculorenal Syndrome
Ectopic posterior pituitary, Central hypothyroidism, Recurrent hypoglycemia, Decreased circulatin... OMIM:620305
D-Glyceric Aciduria
Growth delay, Failure to thrive, Hypoglycemia OMIM:220120
Glutaric Acidemia I
Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:231670
Apparent Mineralocorticoid Excess
Short stature, Decreased circulating aldosterone level, Growth delay, Decreased circulating renin... OMIM:218030
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Bachmann-Bupp Syndrome
Large for gestational age, Hypoglycemia OMIM:619075
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatom... OMIM:231680
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Wolman Disease
Adrenal calcification, Adrenal insufficiency, Growth delay ORPHA:75233
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Intrauterine growth retardation, Hypoglycemia OMIM:620275
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Growth delay, Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic steatosis, In... ORPHA:79259
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia OMIM:212138
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Transient hyperlipidemia, Hypoketotic hypoglycemia, Hepatic steatosis OMIM:255120
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Neonatal death OMIM:620300
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Premature adrenarche, Precocious puberty, Insulin resistance, Failure to thrive, Decreased respon... ORPHA:96182
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... ORPHA:95699
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology OMIM:300858
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level OMIM:620126
Immunodeficiency 10
Hepatomegaly, Hypohidrosis, Splenomegaly, Hypoglycemia OMIM:612783
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Microvesicular hepatic steatosis OMIM:611126
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Combined Oxidative Phosphorylation Deficiency 59
Ketotic hypoglycemia, Cholelithiasis, Failure to thrive OMIM:620646
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hepatic steatosis, Fasting hypoglycemia, Hepatomegaly, Neonatal hypoglycemia ORPHA:348
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level OMIM:620125
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia OMIM:301032
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Failure to thrive, Small for gestational age, Hypoglycemia OMIM:607143
Flynn-Aird Syndrome
Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Growth delay, Micronodular cirrhosis, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hepatoce... OMIM:256810
Mitochondrial Trifunctional Protein Deficiency 1
Cholestasis, Hypoketotic hypoglycemia, Small for gestational age, Failure to thrive OMIM:609015
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Hyperactive renin-angiotensin system, Growth delay, Increa... OMIM:214700
Congenital Disorder Of Glycosylation, Type Iie
Growth delay, Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Splenomegaly, Hep... OMIM:608779
Shashi-Pena Syndrome
Intrauterine growth retardation, Hypoglycemia OMIM:617190
Glycogen Storage Disease Ic
Hypoglycemia, Xanthelasma, Chronic pancreatitis, Hyperlipidemia, Hepatoblastoma, Delayed puberty,... OMIM:232240
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Male hypogonadism, Primary adrenal insufficiency ORPHA:139396
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Weight loss, Hypoglycemia ORPHA:134
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Obesity, Hepatomegaly, Jau... ORPHA:26793
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Failure to thrive, Postnatal gr... OMIM:227810
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Cholestasis, Intrauterine growth retardation, Microvesicular hep... OMIM:617156
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Panhypopituitarism, In... OMIM:146510
Craniopharyngioma
Growth delay, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Postn... ORPHA:54595
Kearns-Sayre Syndrome
Hypoparathyroidism, Primary adrenal insufficiency, Diabetes mellitus, Short stature OMIM:530000
Dilated Cardiomyopathy With Ataxia
Intrauterine growth retardation, Microvesicular hepatic steatosis, Hypothyroidism, Neonatal hypog... ORPHA:66634
Combined Oxidative Phosphorylation Deficiency 37
Macrovesicular hepatic steatosis, Failure to thrive, Bile duct proliferation, Hypoglycemia OMIM:618329
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Neonatal hypoglycemia, Growth delay, Hepatic steatosis ORPHA:445038
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:251110
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, Hepatom... OMIM:201475
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat... OMIM:616263
Neonatal Adrenoleukodystrophy
Short stature, Primary adrenal insufficiency ORPHA:44
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Hypoglycemia OMIM:619355
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Growth delay, Increased circulating renin level OMIM:203400
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc... OMIM:616007
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Cholestasis, Hypoketotic hypoglycemia, Hypoparathyroidism, Diffuse ... ORPHA:746
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Hypoglycemia OMIM:210210
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Short stature, Hypoglycemia OMIM:233600
Tyrosinemia, Type I
Failure to thrive, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepa... OMIM:276700
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia OMIM:266510
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Hepatic periportal necrosis ORPHA:26791
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Thyroid carcinoma, Hashimoto thyroiditis, Cachexia, Short stature, Neoplasm of the ... ORPHA:109
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Neonatal hypoglycemia ORPHA:457485
Kabuki Syndrome 2
Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Short statu... OMIM:300867
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Squalene Synthase Deficiency
Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic... OMIM:618156
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Compensated hypothyroidism, Hypoglycemia ORPHA:480864
Adrenomyodystrophy
Short stature, Primary adrenal insufficiency ORPHA:977
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Hepatic steatosis, Failure to thrive ORPHA:99901
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypog... ORPHA:95494
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Growth delay, Abnormality of the hypothalamu... ORPHA:300298
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic steatosis ORPHA:228305
Familial Hypoaldosteronism
Decreased circulating aldosterone level, Adrenal insufficiency, Growth delay, Increased circulati... ORPHA:427
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrine pancreatic in... OMIM:619004
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature pubarche, Premature thelarche, Hypothyroidism, Hypoglycemia OMIM:616878
Perlman Syndrome
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:267000
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Liddle Syndrome 2
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Severe postnatal growth retardation, Neonatal hypoglycemia ORPHA:35173
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Lipid accumulation in hepatocytes, Hepatic calcification, Nonketotic hypoglycemia, ... OMIM:608836
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98754
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:565624
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia OMIM:614501
3-Hydroxy-3-Methylglutaric Aciduria
Recurrent hypoglycemia, Lipid accumulation in hepatocytes, Weight loss, Nonketotic hypoglycemia, ... ORPHA:20
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Intrauterine growth retardation, Hepatic steatosis, Neonatal hypoglycemia, Growth delay OMIM:616271
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Fasting hypoglycemia ORPHA:159
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177904
Prolactinoma
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... ORPHA:2965
Dominant Beta-Thalassemia
Growth delay, Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparath... ORPHA:231226
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli... OMIM:269200
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperg... OMIM:124000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177901
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Sotos Syndrome
Prolonged neonatal jaundice, Increased body weight, Neonatal hypoglycemia, Glucose intolerance OMIM:117550
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Beta-Thalassemia Intermedia
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypoparathyroidism, Diabetes mellitus ORPHA:231222
Xp21 Deletion Syndrome
Hypogonadotropic hypogonadism, Adrenal insufficiency, Primary adrenal insufficiency, Growth delay ORPHA:261476
Congenital Syphilis
Hypoglycemia, Intrauterine growth retardation, Hepatosplenomegaly, Pancreatitis, Prolonged neonat... ORPHA:499009
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Hepatic calcification ORPHA:157
Hereditary Fructose Intolerance
Reactive hypoglycemia, Hepatomegaly, Jaundice, Growth delay, Episodic hyperhidrosis ORPHA:469
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Failure to thrive, Hypoglycemia, Cholestasis, Slender build, Intrauter... OMIM:613658
Alg12-Cdg
Failure to thrive, Recurrent hypoglycemia, Hypocholesterolemia, Intrauterine growth retardation, ... ORPHA:79324
Distal Deletion 13Q
Short stature, Primary adrenal insufficiency ORPHA:1590
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Leigh Syndrome
Intrauterine growth retardation, Growth delay, Failure to thrive, Hypoglycemia ORPHA:506
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246450
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hypoglycemia, Hepatic steatosis, Hyperhidrosis, Hepatomegaly, Growth delay ORPHA:17
Pyruvate Carboxylase Deficiency
Failure to thrive, Hypoglycemia, Hyperglycemia, Hepatomegaly, Growth delay ORPHA:3008
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Hypoglycemia, Hepatosplenomegaly, Obesity, Cholecystitis, Hep... OMIM:301066
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia ORPHA:369929
Shigellosis
Hypoglycemia, Cholestasis, Failure to thrive in infancy, Peritonitis, Splenic abscess ORPHA:810
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Beta-Thalassemia Major
Growth delay, Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparath... ORPHA:231214
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia OMIM:620451
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Myasthenia Gravis
Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymu... ORPHA:589
East Syndrome
Hyperaldosteronism, Increased circulating renin level ORPHA:199343
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Hyperlipidemia, Hepatic steatosis, Hepatic calcification, Hepatomegaly ORPHA:228308
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Neonatal death, Jaundice, Neonatal hypoglycemia, Growth delay OMIM:617248
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Graves disease, Failure to thrive, Glucose intolera... ORPHA:358
Prader-Willi Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... OMIM:176270
Fructose Intolerance, Hereditary
Glycosuria, Hypoglycemia, Failure to thrive, Hepatic steatosis, Cirrhosis, Hepatomegaly, Jaundice OMIM:229600
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Hypot... ORPHA:2905
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Jaundice, Growth delay ORPHA:79282
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Hypoglycemia OMIM:620423
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Hypoglycemia, Splenomegaly, Hepatomegaly, Growth delay OMIM:252010
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Holoprosencephaly
Hypoglycemia, Failure to thrive in infancy, Panhypopituitarism, Abnormality of the spleen, Diabet... ORPHA:2162
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:572798
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Cholera
Hypoglycemia ORPHA:173
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:231632
Primary Fanconi Renotubular Syndrome
Weight loss, Growth delay, Glycosuria, Hypoglycemia ORPHA:3337
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Failure to thrive OMIM:613090
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Holoprosencephaly 1
Short stature, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia OMIM:236100
Andersen-Tawil Syndrome
Hyperaldosteronism, Short stature, Growth delay ORPHA:37553
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Histiocytoid Cardiomyopathy
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:137675
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hyperaldosteronism, Short stature, Increased circulating renin level OMIM:612780
Beckwith-Wiedemann Syndrome
Hypoglycemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Adrenocortical cyt... ORPHA:116
46,Xy Partial Gonadal Dysgenesis
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Absence of secondary s... ORPHA:251510
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Cholesteryl Ester Storage Disease
Adrenal calcification, Adrenal insufficiency OMIM:278000
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Primary hyperaldosteronism, Decreased circulating renin level OMIM:615474
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
Menkes Disease
Prolonged neonatal jaundice, Intrauterine growth retardation, Hypoglycemia ORPHA:565
Pearson Syndrome
Growth delay, Glycosuria, Decreased response to growth hormone stimulation test, Postnatal growth... ORPHA:699
Adrenomyeloneuropathy
Adrenocorticotropic hormone excess, Adrenocortical abnormality, Adrenal insufficiency, Primary ad... ORPHA:139399
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Bartter Syndrome, Type 3
Hyperaldosteronism, Hyperactive renin-angiotensin system, Increased circulating renin level OMIM:607364
Acute Liver Failure
Hepatitis, Hypoglycemia, Hepatocellular necrosis, Hepatic periportal necrosis, Adrenal insufficie... ORPHA:90062
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Steatorrhea OMIM:212065
Carney Triad
Pheochromocytoma, Adrenal overactivity, Paraganglioma, Adrenocortical adenoma ORPHA:139411
Simpson-Golabi-Behmel Syndrome
Polysplenia, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Hepatoblastoma, Hepat... ORPHA:373
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Failure to thrive, Hyperaldosteronism, Short stature, Hyperactive renin-angi... OMIM:601678
Bartter Syndrome Type 4
Failure to thrive, Hyperaldosteronism, Severe failure to thrive, Hyperactive renin-angiotensin sy... ORPHA:89938
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Adrenocortical cytomegaly, Adrenocortical carcinoma, Hepatoblastoma, Hepa... OMIM:130650
Zellweger Syndrome
Short stature, Primary adrenal insufficiency ORPHA:912
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypoglycemia, Hyperglycemia, Microvesicular hepatic steatosis, Small for gesta... OMIM:220111
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Large for gestational age, Neonatal hypoglycemia ORPHA:457359
Costello Syndrome
Short stature, Failure to thrive, Hypoglycemia OMIM:218040
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Bartter Syndrome, Type 2, Antenatal
Failure to thrive, Hyperaldosteronism, Short stature, Hyperactive renin-angiotensin system, Small... OMIM:241200
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Failure to thrive OMIM:602522
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Hypoglycemia, Orchitis ORPHA:99826
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Central adrenal insufficie... ORPHA:488632
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
African Trypanosomiasis
Hepatosplenomegaly, Abnormality of circulating cortisol level, Splenomegaly, Abnormality of renin... ORPHA:3385
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Fai... ORPHA:534
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hepatic calcification ORPHA:73224
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Decreased response to growth hormone stimulation test, Postnatal growth retar... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Postnatal growth retar... ORPHA:363958
D-Bifunctional Protein Deficiency
Primary adrenal insufficiency OMIM:261515
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration OMIM:270400
Crimean-Congo Hemorrhagic Fever
Parotitis, Adrenal insufficiency, Orchitis, Hyperhidrosis, Inappropriate antidiuretic hormone sec... ORPHA:99827
Microphthalmia, Syndromic 2
Short stature, Adrenal insufficiency, Hypothyroidism OMIM:300166
Orofaciodigital Syndrome Type 4
Severe short stature, Intrauterine growth retardation, Primary adrenal insufficiency, Growth delay ORPHA:2753
Pallister-Hall Syndrome
Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Int... ORPHA:672
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Primary adrenal insufficiency ORPHA:275761
Sotos Syndrome
Prolonged neonatal jaundice, Hypothyroidism, Neonatal hypoglycemia ORPHA:821

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 Foxa1

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 Foxa1.

No publications found that use IMPC mice or data for Foxa1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Foxa1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Foxa1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Foxa1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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