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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
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... OMIM:262700
Acid-Labile Subunit Deficiency
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postnatal growth retard... OMIM:615961
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Abnormality of body we... ORPHA:314811
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ... ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Postnatal growth ... OMIM:232700
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, R... OMIM:262400
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... ORPHA:79644
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... ORPHA:171706
Mahvash Disease
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Short stature, Hypoglycemia ORPHA:366
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cort... ORPHA:1227
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
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
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Late-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... ORPHA:556037
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... OMIM:613370
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... ORPHA:556030
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... OMIM:201400
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Cholelithiasis, I... ORPHA:438274
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth reta... ORPHA:453533
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... ORPHA:71529
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... ORPHA:276608
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71526
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant dia... OMIM:262190
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis OMIM:261650
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Hyperhidros... ORPHA:231140
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Episodic hy... ORPHA:276575
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Failure to thrive, Short stature, Hypoglycemia, Hepatocellular carcinoma, Hyperlipi... ORPHA:369
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
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
Severe failure to thrive, Intrauterine growth retardation, Hyperglycemia, Transient neonatal diab... OMIM:601410
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Intrauterine growth retardation, Hypoglycemia, Hyperhidrosis ORPHA:231147
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... ORPHA:199296
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Gro... OMIM:613027
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... OMIM:617872
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc... OMIM:613986
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Wolfram-Like Syndrome
Diabetes mellitus, Severe postnatal growth retardation, Glucose intolerance, Primary gonadal insu... ORPHA:411590
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Growth delay, Hypercholesterolemia OMIM:306000
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97283
Combined Oxidative Phosphorylation Deficiency 50
Intrauterine growth retardation, Short stature, Adrenal insufficiency OMIM:619025
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Short stature, Hypoglycemia ORPHA:364
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia OMIM:618835
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Fail... ORPHA:2089
Pituitary Apoplexy
Hypoglycemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... ORPHA:95613
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hypertriglyceridemia, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia OMIM:618839
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... ORPHA:97282
Bronchial Neuroendocrine Tumor
Hepatomegaly, Elevated circulating growth hormone concentration, Increased circulating ACTH level... ORPHA:97287
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, O... OMIM:300148
Nelson Syndrome
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... ORPHA:199244
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... ORPHA:254516
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Postna... OMIM:616113
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
2P21 Microdeletion Syndrome
Growth delay, Hypogonadism, Failure to thrive, Hypoglycemia ORPHA:163693
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Glycogen Storage Disease Iii
Hepatomegaly, Short stature, Hypoglycemia, Hyperlipidemia, Hepatic fibrosis OMIM:232400
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Small for gestational age, Hyperinsul... ORPHA:79237
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis... ORPHA:95619
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia ORPHA:2022
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Short stature, Hypoglycemia, Adrenal hypoplasia, ... ORPHA:95496
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Increased hepatic glycogen... OMIM:261750
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97280
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Obesity OMIM:620195
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortisol level, Neop... ORPHA:231625
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia OMIM:145750
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... ORPHA:280356
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... ORPHA:97278
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Laron Syndrome
Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Truncal ob... ORPHA:633
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Intrauterine growth retardation, Failure to thrive, Hepatic steatosis OMIM:619048
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Short stature, Hypoglycemia, Postnatal growth retardation, Hyperhidrosis ORPHA:231137
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Short stature, Obesity ORPHA:369873
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Abnormali... ORPHA:562
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Insulin res... ORPHA:73272
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Type I diabetes mellitus, Intrauterine growth retar... OMIM:606176
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Short stature, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delayed puberty OMIM:616033
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Short stature, Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogen... OMIM:202010
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Fibrous Dysplasia Of Bone
Hyperthyroidism, Diabetes mellitus, Short stature, Precocious puberty in females, Elevated circul... ORPHA:249
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... ORPHA:90793
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperhidrosis, ... ORPHA:263455
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus,... OMIM:604367
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Failure to thrive, Hypoglycemia, Hepatomegaly OMIM:618958
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... ORPHA:90790
Donohue Syndrome
Postnatal growth retardation, Precocious puberty, Hyperinsulinemia, Cholestasis, Severe failure t... OMIM:246200
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera... ORPHA:96253
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Hypoglycemia, Pancreatitis, Adrenal insufficiency OMIM:619386
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Short stature, Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Silver-Russell Syndrome 2
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia, Hyperhidrosis OMIM:618905
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Familial Renal Glucosuria
Insulin resistance, Moderate postnatal growth retardation, Abnormal circulating insulin concentra... ORPHA:69076
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Pituitary adenoma, Decrea... ORPHA:199299
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Postnatal growth retardation, Precocious puberty, Obesity, ... ORPHA:254531
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Hyperhidrosis, Growth delay, Neonatal death, Intrauterine growth retardation, Failu... OMIM:245400
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi... OMIM:618985
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia ORPHA:289504
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia, Short stature ORPHA:66518
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolera... ORPHA:2088
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Intrauterine growth retardation, Failure to thrive, Hypoglycemia OMIM:614702
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia OMIM:615160
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Short stature, Hypoglycemia, Large for gestational age, Glycosuria OMIM:616026
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246900
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus ORPHA:3085
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia, Small for gestational age, Proportionate short stature, Severe p... ORPHA:391408
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Proportionate short stature, Increased circulating free fatty acid level, Fasting hyperinsulinemi... ORPHA:71212
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... ORPHA:2298
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Short stature, Premature thelarche, Iso... ORPHA:90795
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Transient hyperlipidemia ORPHA:156
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Hypoglycemia, Adrenal hypoplasia, Primary adrenal insuffici... ORPHA:95409
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism OMIM:617027
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Hypoglycemia, Splenomegaly, Hepatocellular ade... ORPHA:264580
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Hypoglycemia OMIM:618120
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia ORPHA:5
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Adrenal calcification, Ad... ORPHA:85138
Immunodeficiency 54
Short stature, Postnatal growth retardation, Adrenocorticotropic hormone excess, Adrenal insuffic... OMIM:609981
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... OMIM:606407
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Small for gestational age, Postnatal growth retardation, Intrauterine growth retard... ORPHA:397590
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... ORPHA:293978
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Failure to thrive OMIM:264350
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impaired glucon... OMIM:261680
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon... ORPHA:168558
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:2394
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... OMIM:177735
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Small for gestational age, Growth delay, Recurrent hypoglycemia, Delayed puberty, ... OMIM:616817
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia OMIM:248360
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism OMIM:617575
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Ketotic hypoglycemia, Hepatocellular carcinoma... ORPHA:79240
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia ORPHA:79096
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism OMIM:605635
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Short stature, Adrenocorticotropin receptor defect, Adrenal... OMIM:231550
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Adrenocorticotropic hormone excess, Intestinal carcinoid, Increased serum serotonin... ORPHA:100079
Glycogen Storage Disease Ia
Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Growth delay... OMIM:232200
Silver-Russell Syndrome 1
Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly... OMIM:180860
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Small for gestational age, Maturity-onset diabetes of the young, Postnatal growth ... ORPHA:96184
Apparent Mineralocorticoid Excess
Short stature, Abnormality of circulating cortisol level, Intrauterine growth retardation, Failur... ORPHA:320
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Precocious puberty in females, Insulin res... ORPHA:528
Classic Galactosemia
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoglycemia, Jaundice, Delayed puberty ORPHA:79239
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Short stature, Hypoglycemia, Small for gestation... OMIM:307030
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:79085
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ... ORPHA:2457
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea... ORPHA:363400
Mitochondrial Complex I Deficiency, Nuclear Type 16
Intrauterine growth retardation, Adrenal insufficiency OMIM:618238
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Short stature, Precocious pu... ORPHA:90794
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Grow... OMIM:610600
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hypoglycemic seizures, Growth delay, Hepatic steatosis, Hypoketotic hypoglycemia OMIM:231530
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Propionic Acidemia
Hepatomegaly, Short stature, Hypoglycemia, Failure to thrive, Pancreatitis OMIM:606054
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Small for gestational age, Postnatal growth retardation, Intrahepatic cholestasis, ... OMIM:617093
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Hypoglycemia, Decrease... OMIM:615577
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level OMIM:611489
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Precocious p... ORPHA:813
Pancreatic And Cerebellar Agenesis
Failure to thrive, Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyper... OMIM:609069
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Intrauterine growth retardation, Hypoglycemia OMIM:618253
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Recurrent hypoglycemia, Impaired gluconeogenesis,... OMIM:212140
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... OMIM:608747
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
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Infantile Liver Failure Syndrome 2
Jaundice, Hypoglycemia OMIM:616483
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Cachexia, Hepatomegaly ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Failure to thrive, Neonatal hypoglycemia OMIM:619046
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
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia, Pancreatitis OMIM:251000
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Failure to thrive, Hypoglycemia, Cirrhosis OMIM:617049
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Transient hyperlipidemia, Hypoketotic hypoglycemia OMIM:255120
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Exocrine pancreatic insufficiency, Steatorrhea, Pan... OMIM:615935
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest... OMIM:615812
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to th... ORPHA:79319
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... OMIM:619418
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Hypoglycemia, Neonatal death, Intrauterine growth retardation, Failure... OMIM:619055
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Hypoglycemia, Intrauterine growth retardation, Failure to thrive, Hypothyroidism OMIM:618005
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hypoglycemia OMIM:616355
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Rabson-Mendenhall Syndrome
Increased pineal volume, Short stature, Impaired glucose tolerance, Precocious puberty, Insulin r... ORPHA:769
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hepatic steatosis OMIM:201450
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... ORPHA:171876
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypoglycemia OMIM:600649
Glycogen Storage Disease Ib
Hepatomegaly, Short stature, Hypoglycemia, Pancreatic fibrosis, Hepatocellular carcinoma, Splenom... OMIM:232220
Seckel Syndrome 10
Acute pancreatitis, Severe short stature, Hypertriglyceridemia, Diabetes mellitus, Impaired gluco... OMIM:617253
Mirage Syndrome
Hypergonadotropic hypogonadism, Short stature, Adrenal hypoplasia, Hypoglycemia, Adrenal insuffic... OMIM:617053
Leprechaunism
Hepatomegaly, Decreased body weight, Postnatal growth retardation, Insulin resistance, Hyperinsul... ORPHA:508
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, ... OMIM:251880
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Carney Complex
Neoplasm of the pancreas, Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated c... ORPHA:1359
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Triple A Syndrome
Anterior hypopituitarism, Short stature, Adrenal insufficiency ORPHA:869
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Small pituitary glan... OMIM:612079
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Intrahep... OMIM:614921
Smith-Kingsmore Syndrome
Large for gestational age, Rhizomelia, Hypoglycemia OMIM:616638
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Hypoglycemia, Decreased response ... ORPHA:90695
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level OMIM:620126
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level OMIM:620125
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
D-Glyceric Aciduria
Growth delay, Failure to thrive, Hypoglycemia OMIM:220120
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
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
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... OMIM:240300
Ane Syndrome
Decreased serum insulin-like growth factor 1, Short stature, Anterior pituitary hypoplasia, Decre... ORPHA:157954
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Intrauterine growth retardation, Failure to thrive ORPHA:2609
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Postnatal growth retardation, ... OMIM:620305
Diarrhea 1, Secretory Chloride, Congenital
Growth delay, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating ren... OMIM:214700
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level ORPHA:43
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Apparent Mineralocorticoid Excess
Growth delay, Decreased circulating aldosterone level, Short stature, Decreased circulating renin... OMIM:218030
Alstrom Syndrome
Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypertriglyceridemia, Short stature, D... OMIM:203800
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failure to... OMIM:602579
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Glutaric Acidemia I
Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:231670
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Hepatic periportal necrosis, He... OMIM:231680
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Hypoglycemia, Neonatal hypoglycemia, Hepatomegaly OMIM:212138
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Short stature, Hypoglycemia, Failure to th... ORPHA:79259
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Intrauterine growth retardation, Hypoglycemia OMIM:620275
Bachmann-Bupp Syndrome
Hypoglycemia, Large for gestational age OMIM:619075
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Growth delay, Glucose into... OMIM:608612
Wolman Disease
Growth delay, Adrenal insufficiency, Adrenal calcification ORPHA:75233
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:151660
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Hypoglycemia OMIM:620300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246450
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Postnatal growt... ORPHA:96182
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia ORPHA:348
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia OMIM:611126
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia OMIM:301032
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus ORPHA:2047
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Failure to thrive, Rhizomelia, Hypoglycemia OMIM:607143
Mitochondrial Trifunctional Protein Deficiency 1
Failure to thrive, Small for gestational age, Cholestasis, Hypoketotic hypoglycemia OMIM:609015
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinoma, Microvesicular hepatic steat... OMIM:256810
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Postnatal growth retardation, Hyperlipidemia, Insulin-r... OMIM:248370
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... OMIM:146510
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Jaundice, Growth delay, Intrauterine gro... OMIM:608779
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth... OMIM:232240
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency ORPHA:139396
Shashi-Pena Syndrome
Intrauterine growth retardation, Hypoglycemia OMIM:617190
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Small for gestational age, Increased circulating free fatty acid level, Overweight,... ORPHA:26793
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis, Intrauterine gr... OMIM:617156
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Fanconi-Bickel Syndrome
Hepatomegaly, Postnatal growth retardation, Intrahepatic cholestasis, Fasting hypoglycemia, Glyco... OMIM:227810
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic stea... OMIM:201475
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Bile duct proliferation, Hypoglycemia, Macrovesicular hepatic steatosis OMIM:618329
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Growth delay, Intrauterine growth retardation, Hypothyroidism, ... ORPHA:66634
Kearns-Sayre Syndrome
Hypoparathyroidism, Primary adrenal insufficiency, Diabetes mellitus, Short stature OMIM:530000
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia, Weight loss ORPHA:134
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... ORPHA:251274
3-Methylglutaconic Aciduria Type 7
Growth delay, Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia ORPHA:445038
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Hypoglycemia OMIM:210210
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, A... ORPHA:369929
Tyrosinemia, Type I
Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay, Pancreatic islet-cell hyperplasia, Cirrho... OMIM:276700
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Diffuse hepatic steatosis, Hypoket... ORPHA:746
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Hypoglycemia OMIM:619355
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short stature, Decreased response to growth hormone stimulation test, Hypoglycemia, Growth delay,... OMIM:616007
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, Short stature ORPHA:44
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Short stature, Pancreatic fibrosis, Postnatal... OMIM:616263
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hyperinsulinemia, Failure t... OMIM:613327
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Short stature, Hypoglycemia OMIM:233600
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis ORPHA:26791
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Short stature, Hypoglycemia, Cachexia, Thyroid carcinoma, Hashimo... ORPHA:109
Kabuki Syndrome 2
Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine growth retardati... OMIM:300867
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia, Large for gestational age ORPHA:457485
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures ORPHA:480864
Adrenomyodystrophy
Primary adrenal insufficiency, Short stature ORPHA:977
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis... ORPHA:300298
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia ORPHA:228305
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Hypoglycemia, Premature thelarche, Premature pubarche OMIM:616878
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Failure to thrive, Hepatic steatosis ORPHA:99901
Familial Hypoaldosteronism
Growth delay, Decreased circulating aldosterone level, Adrenal insufficiency, Increased circulati... ORPHA:427
Perlman Syndrome
Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:267000
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
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Deeah Syndrome
Hepatomegaly, Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone ... OMIM:619004
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Short stature, Neonatal hypoglycemia ORPHA:35173
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Ectopic posterior pituitary, Hypoglycemia, Decreased response to growth hormo... ORPHA:95494
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase... OMIM:201810
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Lipid accumulation in hepatocytes, Hepatic c... OMIM:608836
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
East Syndrome
Hyperaldosteronism, Increased circulating renin level ORPHA:199343
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenocortical adenoma, Decreased circulat... ORPHA:231632
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-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Growth delay, Intrauterine growth retardation, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin... OMIM:608594
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in hepato... ORPHA:20
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:98754
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Recurrent hypoglycemia,... OMIM:124000
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Sotos Syndrome
Glucose intolerance, Increased body weight, Neonatal hypoglycemia, Prolonged neonatal jaundice OMIM:117550
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hyperlipidemia, Hepatic calcification, Hypoketotic hypoglycemia ORPHA:157
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Hyperhidrosis, Parathyroid adeno... ORPHA:358
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Hypothyroidism ORPHA:231222
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Growth delay, Adrenal insufficiency, Delayed puberty, Hypo... ORPHA:231226
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:98793
Xp21 Deletion Syndrome
Growth delay, Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency ORPHA:261476
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Jaundice, Growth delay ORPHA:469
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:177901
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Leigh Syndrome
Growth delay, Intrauterine growth retardation, Failure to thrive, Hypoglycemia ORPHA:506
Rajab Interstitial Lung Disease With Brain Calcifications 1
Short stature, Hypoglycemia, Portal hypertension, Small for gestational age, Slender build, Chole... OMIM:613658
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Recurrent hypoglycemia, Hypocholesterolemia, Intrau... ORPHA:79324
Distal Deletion 13Q
Primary adrenal insufficiency, Short stature ORPHA:1590
Prader-Willi Syndrome
Short stature, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:176270
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Hypoglycemia, Hyperhidrosis, Growth delay, Failure to thrive, Hepatic steatosis ORPHA:17
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Precocious puberty, Obesity, Hepatosplenomegaly, Cholecystitis, Chole... OMIM:301066
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Growth delay, Hyperglycemia, Failure to thrive ORPHA:3008
Shigellosis
Hypoglycemia, Failure to thrive in infancy, Peritonitis, Cholestasis, Splenic abscess ORPHA:810
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased serum leptin, Splenomegaly, Hyp... OMIM:269700
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hyperaldosteronism OMIM:613090
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Hepatic calcification, Hepatic steatosis, Hypoketotic hypoglycemia ORPHA:228308
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Abnormal thymus morphology, Glycosuria, Hashimoto... ORPHA:589
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Growth delay, Adrenal insufficiency, Delayed puberty, Hypo... ORPHA:231214
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hyperaldosteronism, Short stature, Increased circulating renin level OMIM:612780
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Growth delay, Neonatal death, Failure to thrive, Neonatal hypoglycemia OMIM:617248
Prader-Willi Syndrome
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Precocio... ORPHA:739
Andersen-Tawil Syndrome
Growth delay, Hyperaldosteronism, Short stature ORPHA:37553
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Jaundice, Growth delay, Intrauterine growth retardation, Failure to thrive ORPHA:79282
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Primary hyperaldosteronism, Decreased circulating renin level OMIM:615474
Fructose Intolerance, Hereditary
Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failure to thrive, Hepatic steatosis OMIM:229600
Holoprosencephaly
Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Abnormality of the spleen, Panhypo... ORPHA:2162
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:572798
Cholera
Hypoglycemia ORPHA:173
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay, Failure to thrive OMIM:252010
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss, Hypoglycemia, Glycosuria ORPHA:3337
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level OMIM:607364
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Holoprosencephaly 1
Short stature, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia OMIM:236100
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... ORPHA:2905
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Xer... ORPHA:227982
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Short stature, Small for gestational age, Hyperactive renin-angiotensin syst... OMIM:601678
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Large for gestational age, Adrenocortical ... ORPHA:116
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Histiocytoid Cardiomyopathy
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:137675
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:96180
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Bartter Syndrome Type 4
Small for gestational age, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ci... ORPHA:89938
Atypical Werner Syndrome
Failure to thrive, Hypertriglyceridemia, Short stature, Diabetes mellitus, Abnormal circulating l... ORPHA:79474
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xerostomia, Anterior pituitary dys... ORPHA:227990
Cholesteryl Ester Storage Disease
Adrenal insufficiency, Adrenal calcification OMIM:278000
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc... ORPHA:251510
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
Menkes Disease
Intrauterine growth retardation, Hypoglycemia, Prolonged neonatal jaundice ORPHA:565
Adrenomyeloneuropathy
Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr... ORPHA:139399
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Pos... ORPHA:699
Acute Liver Failure
Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Adrenal insufficien... ORPHA:90062
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia, Hepatob... ORPHA:373
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma ORPHA:139411
Bartter Syndrome, Type 2, Antenatal
Short stature, Small for gestational age, Hyperactive renin-angiotensin system, Hyperaldosteronis... OMIM:241200
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Hepato... OMIM:130650
Zellweger Syndrome
Primary adrenal insufficiency, Short stature ORPHA:912
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Hyperaldosteronism OMIM:602522
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Short stature, Abnormal circulating calcium-phosphate regulating hormone con... ORPHA:534
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets, Microvesicular ... OMIM:220111
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Neonatal hypoglycemia, Large for gestational age ORPHA:457359
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hepatic calcification ORPHA:73224
Costello Syndrome
Failure to thrive, Short stature, Hypoglycemia OMIM:218040
Turner Syndrome Due To Structural X Chromosome Anomalies
Short stature, Failure to thrive in infancy, High urinary gonadotropin level, Postnatal growth re... ORPHA:99413
Turner Syndrome
Short stature, Failure to thrive in infancy, High urinary gonadotropin level, Postnatal growth re... ORPHA:881
Mosaic Monosomy X
Short stature, Failure to thrive in infancy, High urinary gonadotropin level, Postnatal growth re... ORPHA:99228
Monosomy X
Short stature, Failure to thrive in infancy, High urinary gonadotropin level, Postnatal growth re... ORPHA:99226
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Secondary Intestinal Lymphangiectasia
Cirrhosis, Secondary hyperaldosteronism, Hypocholesterolemia ORPHA:90363
African Trypanosomiasis
Hepatomegaly, Abnormality of the endocrine system, Splenomegaly, Jaundice, Hepatosplenomegaly, Ab... ORPHA:3385
Marburg Hemorrhagic Fever
Orchitis, Jaundice, Hypoglycemia, Pancreatitis ORPHA:99826
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Tbck-Related Intellectual Disability Syndrome
Central adrenal insufficiency, Hyperthyroidism, Hypothyroidism, Decreased response to growth horm... ORPHA:488632
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Precocious p... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Precocious p... ORPHA:363958
D-Bifunctional Protein Deficiency
Primary adrenal insufficiency OMIM:261515
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia OMIM:270400
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Orchitis, Hyperhidrosis, Adrenal insufficiency, Inappropriate antidiuretic ho... ORPHA:99827
Pallister-Hall Syndrome
Short stature, Adrenal hypoplasia, Precocious puberty, Adrenocorticotropic hormone deficiency, Go... ORPHA:672
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Microphthalmia, Syndromic 2
Hypothyroidism, Short stature, Adrenal insufficiency OMIM:300166
Orofaciodigital Syndrome Type 4
Growth delay, Intrauterine growth retardation, Severe short stature, Primary adrenal insufficiency ORPHA:2753
Lysosomal Acid Lipase Deficiency
Primary adrenal insufficiency, Adrenal calcification ORPHA:275761
Sotos Syndrome
Hypothyroidism, Neonatal hypoglycemia, Prolonged neonatal jaundice ORPHA:821
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... 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 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
Foxa1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Foxa1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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