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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
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... OMIM:262700
Acid-Labile Subunit Deficiency
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty, Mild postna... OMIM:615961
Short Stature Due To Ghsr Deficiency
Decreased body weight, Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased seru... ORPHA:314811
Short Stature Due To Partial Ghr Deficiency
Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased serum insulin-like growth f... ORPHA:314802
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Reduced circulating growth hormone concentration, Growth dela... OMIM:262400
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia, Intrauterine growth retardation, Severe short stature OMIM:223500
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyroidism OMIM:616113
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Abnormal circulating insulin concentration, Short stature, Decreased circulating fr... ORPHA:171706
Mahvash Disease
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... OMIM:619290
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia, Short stature ORPHA:366
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the parathy... ORPHA:1227
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Short stature, Truncal obesity, Hypoglycemia, Diabe... ORPHA:181393
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Short stature, Panhypopituita... OMIM:262600
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... OMIM:615830
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Glucocorticoid Deficiency 1
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm... OMIM:202200
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology, Glucagonoma, Increas... ORPHA:438274
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... ORPHA:556037
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Intrauterine grow... OMIM:613370
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... ORPHA:556030
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Excessi... ORPHA:324575
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Hyperins... ORPHA:552
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189427
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Acth Deficiency, Isolated
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... OMIM:201400
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189439
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Growth delay OMIM:616111
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71526
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... OMIM:262190
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis OMIM:261650
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Small for gestational age, Short stature, Hypoglycemia, Neonatal hypoglyce... ORPHA:231140
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hypercortisol... OMIM:219080
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive, Hepatomegaly ORPHA:67046
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis,... ORPHA:199296
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic g... ORPHA:369
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Reactive hypoglycemia OMIM:600955
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ... OMIM:601410
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Intrauterine growth retardation, Hyperhidrosis, Small for gestational age ORPHA:231147
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... ORPHA:276556
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Increased hepatic glycoge... OMIM:613027
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Intrauterine growth retardation OMIM:618838
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... ORPHA:913
Patterson Pseudoleprechaunism Syndrome
Premature adrenarche, Increased circulating cortisol level, Diabetes mellitus OMIM:169170
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Growth delay OMIM:306000
Mccune-Albright Syndrome
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... OMIM:174800
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Somatostatinoma
Neoplasm of the pancreas, Medullary thyroid carcinoma, Abnormality of the thyroid gland, Pituitar... ORPHA:97283
Vipoma
Elevated calcitonin, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid glan... ORPHA:97282
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Intrauterine growth retardation, Microvesicular hepatic steatosis, Cirrhosis, ... OMIM:617156
Hypersecretion Of Adrenal Androgens, Familial
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration OMIM:145295
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Short stature ORPHA:329249
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Short stature, Hypoglycemia, Hypertriglyceridem... OMIM:307030
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Failure to thrive OMIM:610090
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency, Intrauterine growth retardation, Short stature OMIM:619025
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Short stature ORPHA:364
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Short stature, Ketotic hypoglycemi... ORPHA:2089
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Elevated circulating growth hormone concentration, Hepatomegaly, Incre... ORPHA:97287
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Intrauterine growth retardation, Neonatal death OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Intrauterine growth retardation, Neonatal death OMIM:618839
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Birth length le... OMIM:300148
Nelson Syndrome
Type II diabetes mellitus, Adrenocorticotropic hormone excess, Increased circulating cortisol lev... ORPHA:199244
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Neonatal Hemochromatosis
Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Pheochrom... OMIM:171400
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... OMIM:618160
2P21 Microdeletion Syndrome
Hypoglycemia, Failure to thrive, Growth delay, Hypogonadism ORPHA:163693
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... ORPHA:79084
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Short stature, Hypoglycemia, Hepatic fibrosis OMIM:232400
Glucagonoma
Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulati... ORPHA:97280
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Ppoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... ORPHA:97278
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Failure to thrive, Small for gestational age OMIM:614702
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism OMIM:144600
Pituitary Stalk Interruption Syndrome
Failure to thrive, Short stature, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism,... ORPHA:95496
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Laron Syndrome
Abnormality of the endocrine system, Severe short stature, Hypohidrosis, Truncal obesity, Hypogly... ORPHA:633
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Post-Traumatic Pituitary Deficiency
Growth delay, Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hy... ORPHA:95619
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Severe intrauterine growth retardation, Small for gestational age, Short statu... ORPHA:73272
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Neoplasm of the adrenal gland, Glucocortocoid-insensitive prim... ORPHA:231625
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... OMIM:300200
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Hypoglycemia, Hepatic steatosis OMIM:619048
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short stature, Small for gestational age, Hypoglycemia, Postnatal growth retardation, Hyperhidrosis ORPHA:231137
Grfoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... ORPHA:97261
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Failure to thrive, Precocious puberty, Congenital hypothyroidism OMIM:614736
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Intrauterine growth retardation ORPHA:26792
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... ORPHA:562
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive ORPHA:67048
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Short stature, Eleva... OMIM:202010
Wolfram-Like Syndrome
Glucose intolerance, Primary gonadal insufficiency, Severe postnatal growth retardation, Hypothyr... ORPHA:411590
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Primary adrenal insufficien... ORPHA:3143
Blue Diaper Syndrome
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... ORPHA:94086
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Short stature, Delayed puberty, Delayed thelarche, Diabetes mellitus OMIM:616033
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis OMIM:246650
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Intrauterine growth retar... OMIM:606176
Hemochromatosis, Neonatal
Hepatocellular necrosis, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level OMIM:103230
Fibrous Dysplasia Of Bone
Abnormality of the endocrine system, Precocious puberty in females, Thyroid carcinoma, Elevated c... ORPHA:249
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content... ORPHA:263455
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy... ORPHA:2126
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Failure to thrive, Hepatomegaly, Intrauterine growth retardation OMIM:618958
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Central adrenal insufficiency, Delayed puberty, Hypogonadism OMIM:612079
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hypoglycemia, Decreased carnitine level in liver, Impaired gluco... OMIM:212140
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Chole... OMIM:246200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... ORPHA:90793
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Maternal diabetes, Hypertriglyceridemia, ... OMIM:604367
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia, Pancreatitis, Hepatic steatosis OMIM:619386
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Hypogonadotropic hypogonadism, Intrauterine growth retardation, Short stature ORPHA:48431
Silver-Russell Syndrome 2
Neonatal hypoglycemia, Intrauterine growth retardation, Hyperhidrosis, Short stature OMIM:618905
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Failure to thrive OMIM:617950
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, ... ORPHA:652
Cushing Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... ORPHA:96253
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... ORPHA:199299
Propionic Acidemia
Hypoglycemia, Hepatomegaly ORPHA:35
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... ORPHA:293978
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Delayed puberty, Postnatal growth retardation, Decreased serum insulin-like growth... OMIM:618985
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Neonatal death, Hypoglycemia, Growth delay, Intrauterine growth retardation, H... OMIM:245400
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Hyperinsulinemia, Splenomegaly ORPHA:66518
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:246900
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, ... ORPHA:2088
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Failure to thrive ORPHA:289504
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Postnatal growth retardation, Maturity-onset diabetes of the young, Hyperchol... ORPHA:254531
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Short stature, Cirrhosis, Macr... OMIM:256810
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Intrauterine growth retardation OMIM:618253
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Short stature, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mellitus OMIM:616026
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age OMIM:615160
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Increased serum testosterone level, Glucose intolerance, Hyperinsulin... ORPHA:2298
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Obesity ORPHA:3085
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Decreased body weight, Small for gestational age, Severe postnatal growth retardation, Hypothyroi... ORPHA:391408
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypogonadism OMIM:617575
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Intrauterine growth retardation, Hyperinsulinemic hypoglycemia, Hypoketotic hy... ORPHA:71212
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Transient hyperlipidemia, Hepatomegaly ORPHA:156
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... ORPHA:95409
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Precocious puberty, Short stature, Decreased circulating cort... ORPHA:90795
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess OMIM:613743
Addison Disease
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Failure to thrive, Decrease... ORPHA:85138
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Increased ... ORPHA:264580
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... OMIM:220111
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Hypothyroidism, Hypoglycemia, Postnatal growth retardation, Intrauteri... ORPHA:397590
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly OMIM:266150
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia ORPHA:5
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Short stature, Postnatal growth retard... OMIM:609981
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Decreased response to growth hormone stimulation test, Short stature ORPHA:436174
Pancreatic And Cerebellar Agenesis
Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Diabetes mellitus, Hyperglycemia OMIM:609069
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Short stature OMIM:618120
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... OMIM:606407
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... ORPHA:289548
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... ORPHA:168558
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Growth delay, Small for gestational age, Short stature, Hypothyroidism, Delayed puberty, Recurren... OMIM:616817
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Increased circulatin... OMIM:177735
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia, Hepatic steatosis, In... OMIM:261680
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Failure to thrive ORPHA:79096
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increa... ORPHA:79240
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Failure to thrive, Pseudohypoaldosteronism, Hyperaldosteronism OMIM:264350
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Short stature OMIM:248360
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Short stature, Abnormality of circula... ORPHA:320
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant dia... ORPHA:79085
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia, Failure to thrive, Hepatomegaly ORPHA:2394
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Postnatal growth retardation, Small for gestational age, Maturity-onset diabe... ORPHA:96184
Panhypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95513
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Glycogen Storage Disease Ia
Hyperlipidemia, Pancreatitis, Hepatomegaly, Short stature, Hepatocellular carcinoma, Hypoglycemia... OMIM:232200
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Failure to thrive OMIM:614739
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hype... ORPHA:528
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus,... ORPHA:2457
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hepatic stea... ORPHA:363400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Increased serum testosterone level, Decreased circulating a... ORPHA:90794
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly OMIM:255120
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Classic Galactosemia
Hepatomegaly, Hypoglycemia, Delayed puberty, Jaundice, Decreased serum insulin-like growth factor 1 ORPHA:79239
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Adrenocorticotropic hormone excess, Hepatomegaly, Intestinal carcinoid... ORPHA:100079
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age OMIM:618857
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency, Intrauterine growth retardation OMIM:618238
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemic seizures, Growth delay, Hepatic necrosis, Hepatic steatosis OMIM:231530
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Immunodeficiency, Common Variable, 10
Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc... OMIM:615577
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Decreased circulating aldosterone level, Increased circulating 18-hydroxycorti... OMIM:610600
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Small for gestational age, Hepatocellular ... OMIM:180860
Silver-Russell Syndrome
Intrauterine growth retardation, Precocious puberty, Postnatal growth retardation, Short stature,... ORPHA:813
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Propionic Acidemia
Failure to thrive, Pancreatitis, Hepatomegaly, Short stature, Hypoglycemia OMIM:606054
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma,... ORPHA:370
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Decreased circulating aldosterone level, Adrenocorticotropi... OMIM:231550
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Failure to thrive, Pancreatitis, Hepatomegaly OMIM:251000
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice OMIM:616483
Cog8-Cdg
Hypoglycemia, Failure to thrive ORPHA:95428
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Failure to thrive, Splenomegaly OMIM:619046
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis,... ORPHA:79319
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Short stature, Hypothyroidism, Hypoglycemia, Intrauterine growth retardation OMIM:618005
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Prolonged neonatal jaundice, Dec... ORPHA:226307
Intellectual Developmental Disorder, Autosomal Dominant 35
Hypoglycemia, Intrauterine growth retardation OMIM:616355
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Intrauterine growth retardation, ... ORPHA:769
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cachexia, Hepatic steatosis, Hepatomegaly ORPHA:42
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Acute hepatic steatosis, Failure to thrive OMIM:210200
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Small for gestational age, Neonatal death, Hypoglycemia, Neonatal hypoglycemia... OMIM:619055
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Cirrhosis, Failure to thrive, Jaundice OMIM:617049
Smith-Kingsmore Syndrome
Hypoglycemia, Rhizomelia, Large for gestational age OMIM:616638
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Severe intrauterine growth retardation, Hyperinsul... ORPHA:508
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating reni... ORPHA:171876
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Short stature, Pancreatic fibrosis, Hep... OMIM:232220
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly ORPHA:2849
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Triple A Syndrome
Adrenal insufficiency, Anterior hypopituitarism, Short stature ORPHA:869
Glutaric Acidemia I
Hypoglycemia, Failure to thrive, Hepatomegaly OMIM:231670
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Growth delay, Abnormal prolactin level, Decreased response to g... ORPHA:90695
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Hepatic steatosis, Hepatomegaly OMIM:201450
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:605115
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Non-Functioning Pituitary Adenoma
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... ORPHA:91349
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Growth delay OMIM:214700
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Short stature, Hypergonadotropic hypogonadism, Hypo... OMIM:617053
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Short stature, Increased hepatic glycogen content, Chronic hepatitis, Hypoglycemia,... OMIM:614921
Seckel Syndrome 10
Glucose intolerance, Severe short stature, Elevated circulating luteinizing hormone level, Glycos... OMIM:617253
D-Glyceric Aciduria
Hypoglycemia, Failure to thrive, Growth delay OMIM:220120
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Decreased circulating aldost... OMIM:240300
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Acute pancreatitis, Hypertriglyceridemia, Insulin-resi... ORPHA:79086
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Steatorrhea, Cirrhosis, Hepatic f... OMIM:602579
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glycosuria, Neonatal death, Hypoglycemia, Hepatic periportal necrosis, Hepatic stea... OMIM:231680
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Growt... OMIM:608612
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Isolated Complex I Deficiency
Failure to thrive, Hepatomegaly, Hypoglycemia, Diabetes mellitus, Intrauterine growth retardation ORPHA:2609
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... OMIM:203800
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Intrauterine growth retardation OMIM:617710
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level, Growth delay, Short s... OMIM:218030
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hyperlipidemia, Pancreatitis, Hepatomegaly, Short stature, Increased hepatic g... ORPHA:79259
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Hepatic steatosis, Hepatomegaly, Neonatal hypoglycemia OMIM:212138
Wolman Disease
Adrenal insufficiency, Growth delay, Adrenal calcification ORPHA:75233
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Bachmann-Bupp Syndrome
Hypoglycemia, Large for gestational age OMIM:619075
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Increased circulating ACTH level, Abnormality of adrenal physiology ORPHA:43
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Short stature, Hy... OMIM:608779
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... OMIM:232240
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hypertriglyceridem... OMIM:151660
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosis ORPHA:348
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Slender build OMIM:617600
Meningioma
Enlarged pituitary gland, Decreased serum testosterone concentration, Reduced circulating prolact... ORPHA:2495
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Failure to thrive, Severe intrauterine growth retardation, Precocious puberty, Decreased response... ORPHA:96182
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hepatomegaly OMIM:229700
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Hepatomegaly OMIM:246450
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Elevated circ... ORPHA:95699
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia, Precocious puberty OMIM:301032
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Microvesicular hepatic steatosis OMIM:611126
Mandibuloacral Dysplasia With Type A Lipodystrophy
Growth delay, Hyperlipidemia, Hyperinsulinemia, Hepatomegaly, Impaired glucose tolerance, Insulin... OMIM:248370
Flynn-Aird Syndrome
Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Cholestasis, Small for gestational age OMIM:609015
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Primary adrenal insufficiency, Male hypogonadism ORPHA:139396
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Small for gestational age, Hypoketotic hypoglycemia, Overweight, Increased circulat... ORPHA:26793
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Decreas... OMIM:146510
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia, Growth delay, Intrauteri... ORPHA:66634
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Hypoglycemia, Cholangitis OMIM:124000
Kearns-Sayre Syndrome
Hypoparathyroidism, Primary adrenal insufficiency, Short stature, Diabetes mellitus OMIM:530000
Beta-Ketothiolase Deficiency
Hypoglycemia, Weight loss, Hepatomegaly, Hyperglycemia ORPHA:134
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Hepatic stea... OMIM:201475
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Growth delay, Hepatic steatosis, Neonatal hypoglycemia ORPHA:445038
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia, Failure to thrive OMIM:210210
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Craniopharyngioma
Growth delay, Enlarged pituitary gland, Type II diabetes mellitus, Postnatal growth retardation, ... ORPHA:54595
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618329
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Cholestasis, Diffuse hepatic steatosis, Failure to ... ORPHA:746
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia, Short stature, Hepatomegaly, Prolonged neonatal jaundice OMIM:233600
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Short statu... OMIM:616007
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia, Obesity OMIM:608624
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Short stature, Cachexia, Neoplasm of the adrenal cortex, Hypoglycemia, Hashimo... ORPHA:109
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia, Intrauterine growth retardation OMIM:619355
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... OMIM:618156
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, Short stature ORPHA:44
Adrenomyodystrophy
Primary adrenal insufficiency, Short stature ORPHA:977
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Insulin re... OMIM:613327
Kabuki Syndrome 2
Decreased body weight, Short stature, Neonatal hypoglycemia, Postnatal growth retardation, Intrau... OMIM:300867
Tyrosinemia, Type I
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hypoglycemia,... OMIM:276700
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia, Large for gestational age ORPHA:457485
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatic periportal necrosis, Hepatomegaly, Acute pancreatitis ORPHA:26791
Visceral Steatosis, Congenital
Hypoglycemia, Jaundice, Hepatic steatosis, Neonatal death OMIM:228100
Familial Hypoaldosteronism
Adrenal insufficiency, Growth delay, Decreased circulating aldosterone level, Increased circulati... ORPHA:427
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadi... ORPHA:300298
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly ORPHA:228305
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemia, Compensated hypothyroidism, Hypoglycemic seizures ORPHA:480864
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Growth delay, Abnormal prolactin level, Decreased response to g... ORPHA:95494
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Failure to thrive, Hepatic steatosis ORPHA:99901
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia, Severe postnatal growth retardation, Short stature ORPHA:35173
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature thelarche, Premature pubarche, Hypoglycemia OMIM:616878
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
Liddle Syndrome 2
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:618114
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Macrovesicular hepatic st... OMIM:608836
Prolactinoma
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... ORPHA:2965
Distal Monosomy 13Q
Primary adrenal insufficiency, Short stature ORPHA:1590
East Syndrome
Hyperaldosteronism, Increased circulating renin level ORPHA:199343
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Precocious puberty, Decreased circulating T4 concentration, Central adrenal insufficiency, Decrea... ORPHA:98754
Deeah Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Decreased response to gro... OMIM:619004
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin, Insulin-resistan... OMIM:608594
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Type II diabetes mellitus, Hepatomegaly, Hemobilia, Hypog... ORPHA:88673
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Precocious puberty, Decreased circulating T4 concentration, Central adrenal insufficiency, Decrea... ORPHA:98793
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Hypothyro... OMIM:269200
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:159
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Neonatal hypoglycemia, Growth delay, Hepatic steatosis, Intrauterine growth retardation OMIM:616271
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Precocious puberty, Decreased circulating T4 concentration, Central adrenal insufficiency, Decrea... ORPHA:177904
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Intrauterine growth retardation ORPHA:565624
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Precocious puberty, Decreased circulating T4 concentration, Central adrenal insufficiency, Decrea... ORPHA:177901
Gitelman Syndrome
Neoplasm of the pancreas, Glucose intolerance, Failure to thrive, Type II diabetes mellitus, Grav... ORPHA:358
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic calcification, Hypoketotic hypoglycemia, Hyperlipidemia, Hepatomegaly ORPHA:157
Sotos Syndrome
Neonatal hypoglycemia, Glucose intolerance, Increased body weight, Prolonged neonatal jaundice OMIM:117550
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Growth delay, Episodic hyperhidrosis, Jaundice ORPHA:469
Bannayan-Riley-Ruvalcaba syndrome
Hypoglycemia, Postnatal growth retardation, Hashimoto thyroiditis OMIM:153480
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Rec... ORPHA:20
Dominant Beta-Thalassemia
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Gr... ORPHA:231226
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Leigh Syndrome
Hypoglycemia, Failure to thrive, Growth delay, Intrauterine growth retardation ORPHA:506
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Growth delay ORPHA:261476
Beta-Thalassemia Intermedia
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Hypogonadism, Diabetes mellitus ORPHA:231222
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Precocious puberty, Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Hypoglycemia... OMIM:301066
Prader-Willi-Like Syndrome
Abnormality of the endocrine system, Precocious puberty, Decreased circulating T4 concentration, ... ORPHA:398073
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hyperaldosteronism, Increased circulating renin level, Short stature OMIM:612780
Alg12-Cdg
Failure to thrive, Hypocholesterolemia, Recurrent hypoglycemia, Intrauterine growth retardation, ... ORPHA:79324
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:231632
Pyruvate Carboxylase Deficiency
Failure to thrive, Hepatomegaly, Hypoglycemia, Growth delay, Hyperglycemia ORPHA:3008
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hyperaldosteronism OMIM:613090
Shigellosis
Splenic abscess, Peritonitis, Cholestasis, Hypoglycemia, Failure to thrive in infancy ORPHA:810
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Prader-Willi Syndrome
Adrenal insufficiency, Abdominal obesity, Precocious puberty, Type II diabetes mellitus, Hyperins... OMIM:176270
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased ser... OMIM:269700
Myasthenia Gravis
Hyperthyroidism, Glycosuria, Primary adrenal insufficiency, Abnormality of the thymus, Hashimoto ... ORPHA:589
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Failure to thrive, Intrauterine growth retardation, Small for gestational age, Sho... OMIM:613658
Beta-Thalassemia Major
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Gr... ORPHA:231214
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperlipidemia, Hepatomegaly, Hepatic calcification, Hypoketotic hypoglycemia, Hepatic steatosis ORPHA:228308
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Prader-Willi Syndrome
Precocious puberty, Central adrenal insufficiency, Small pituitary gland, Decreased response to g... ORPHA:739
Liddle Syndrome 1
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:177200
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level OMIM:607364
Tsh-Secreting Pituitary Adenoma
Central adrenal insufficiency, Increased circulating prolactin concentration, Euthyroid hyperthyr... ORPHA:91347
Fructose Intolerance, Hereditary
Failure to thrive, Hepatomegaly, Cirrhosis, Glycosuria, Hypoglycemia, Hepatic steatosis, Jaundice OMIM:229600
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Intrauterine growth retardation, Hypoglycemia, Growth delay, Jaundice ORPHA:79282
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hepatomegaly, Hypoglycemia, Growth delay, Hepatic steatosis, Hyperhidrosis ORPHA:17
Andersen-Tawil Syndrome
Growth delay, Hyperaldosteronism, Short stature ORPHA:37553
Holoprosencephaly
Panhypopituitarism, Abnormality of the spleen, Anterior hypopituitarism, Hypoglycemia, Diabetes m... ORPHA:2162
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Cholera
Hypoglycemia ORPHA:173
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Intrauterine growth retardation ORPHA:572798
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Growth delay, Weight loss, Glycosuria ORPHA:3337
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Hepatomegaly, Splenomegaly, Hypoglycemia, Growth delay OMIM:252010
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Hyperaldosteronism OMIM:602522
Poems Syndrome
Abnormality of the endocrine system, Increased circulating prolactin concentration, Hypothyroidis... ORPHA:2905
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... ORPHA:91350
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Bartter Syndrome Type 4
Hyperactive renin-angiotensin system, Failure to thrive, Severe failure to thrive, Small for gest... ORPHA:89938
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Failure to thrive, Small for gestational age, Short stature... OMIM:601678
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Sp... ORPHA:116
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Histiocytoid Cardiomyopathy
Hypoglycemia, Failure to thrive, Hepatomegaly ORPHA:137675
Atypical Werner Syndrome
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Decreased body weight, Short stat... ORPHA:79474
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Adrenal calcification OMIM:278000
46,Xy Partial Gonadal Dysgenesis
Adrenal insufficiency, Decreased serum testosterone concentration, Streak ovary, Hypergonadotropi... ORPHA:251510
Menkes Disease
Hypoglycemia, Intrauterine growth retardation, Prolonged neonatal jaundice ORPHA:565
Adrenoleukodystrophy
Primary adrenal insufficiency, Hypogonadism OMIM:300100
Adrenomyeloneuropathy
Adrenal insufficiency, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Adrenoc... ORPHA:139399
Acute Liver Failure
Adrenal insufficiency, Hepatocellular necrosis, Hypoglycemia, Hepatitis, Hepatic periportal necro... ORPHA:90062
Pearson Syndrome
Hypoparathyroidism, Adrenal insufficiency, Exocrine pancreatic insufficiency, Growth delay, Decre... ORPHA:699
Holoprosencephaly 1
Hypoglycemia, Adrenal hypoplasia, Short stature, Diabetes insipidus OMIM:236100
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hepatoblastoma, Splenomegaly, Hypoglycemia, Pancreatic islet-cell hyperplasia, Poly... ORPHA:373
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Failure to thrive, Small for gestational age, Short stature... OMIM:241200
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal overactivity ORPHA:139411
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Adrenocortical cytomegaly, Neonatal hypogly... OMIM:130650
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steatorrhea, Decreased HDL... ORPHA:14
Zellweger Syndrome
Primary adrenal insufficiency, Short stature ORPHA:912
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia, Steatorrhea OMIM:212065
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Growth delay, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, C... ORPHA:99413
Turner Syndrome
Glucose intolerance, Growth delay, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, C... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Growth delay, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, C... ORPHA:99228
Monosomy X
Glucose intolerance, Growth delay, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, C... ORPHA:99226
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia, Slender build, Large for gestational age ORPHA:457359
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hepatic calcification, Hyperaldosteronism ORPHA:73224
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Failure to thrive, Short stature, Delayed pu... ORPHA:534
Costello Syndrome
Hypoglycemia, Failure to thrive, Short stature OMIM:218040
Alacrima, Achalasia, And Mental Retardation Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
African Trypanosomiasis
Abnormality of the endocrine system, Abnormal prolactin level, Abnormality of renin-angiotensin s... ORPHA:3385
Secondary Intestinal Lymphangiectasia
Cirrhosis, Hypocholesterolemia, Secondary hyperaldosteronism ORPHA:90363
Marburg Hemorrhagic Fever
Hypoglycemia, Orchitis, Pancreatitis, Jaundice ORPHA:99826
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Decreased se... ORPHA:273
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Central adrenal insufficie... ORPHA:488632
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Dubowitz Syndrome