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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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, Severe postnatal growth retardation, Impaired growth-hormone response to insu... OMIM:262700
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Growth delay, Short stature, Decreased serum insulin-like growth factor 1, Hypog... ORPHA:314802
Acid-Labile Subunit Deficiency
Delayed puberty, Mild postnatal growth retardation, Insulin insensitivity, Decreased serum insuli... OMIM:615961
Short Stature Due To Ghsr Deficiency
Delayed puberty, Abnormality of body weight, Decreased body weight, Growth delay, Short stature, ... ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Glycogen Storage Disease Vi
Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Increased hepatic glycogen cont... OMIM:232700
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Severe short stature, Decreased serum insulin-like growth factor 1, Reduced circula... OMIM:262400
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Hypoglycemia, Severe short stature OMIM:223500
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Intrauterine growth ret... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia, Short stature ORPHA:366
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Short stature, Primary gonadal insufficiency, Abnormality of th... ORPHA:1227
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... OMIM:615962
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased u... ORPHA:1501
Glucocorticoid Deficiency 3
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... OMIM:609197
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increase... OMIM:615830
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Glucocorticoid Deficiency 1
Abnormal circulating renin, Failure to thrive, Decreased circulating cortisol level, Abnormal cir... OMIM:202200
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Late-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating corticosteron... ORPHA:556037
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Increas... ORPHA:438274
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Hyperglycemia, Diabetic ketoacidosis, Diabetes mellitus, In... OMIM:613370
Mody
Large for gestational age, Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancre... ORPHA:552
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating corticosteron... ORPHA:556030
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Episodic hyperhidrosis, Maturity-... ORPHA:324575
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thymus, Primary ... ORPHA:97289
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:67046
Acth Deficiency, Isolated
Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to thrive, Dec... OMIM:614736
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Obesity, Type II diabete... ORPHA:71529
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperhid... ORPHA:276608
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Episodic hyperhidrosis, Mater... ORPHA:276580
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis OMIM:261650
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Short stat... OMIM:262190
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Hypoglycemia, Pituitary prola... OMIM:131100
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Postnatal growth retardation, Neonatal hypoglycemia, Decreased body weight, Short stature, Hyperh... ORPHA:231140
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Prolonged neonatal jaundice, De... ORPHA:199296
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Episodic hyperhidrosis, Diffu... ORPHA:276575
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen content, He... ORPHA:369
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Obesity, Hyperinsulinemia ORPHA:329249
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Severe failure to thrive, Hyperglycemia, Transient neonatal diab... OMIM:601410
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia, Hyperhidrosis, Small for gestational age ORPHA:231147
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h... OMIM:617872
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Wolfram-Like Syndrome
Delayed puberty, Central diabetes insipidus, Male hypogonadism, Severe postnatal growth retardati... ORPHA:411590
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Episodic hyperhidrosis, Diffuse p... ORPHA:276556
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Postnatal growth retardation, Cirrhosis, Hepatomegaly, Fasting hypoglycemia... OMIM:613027
Zollinger-Ellison Syndrome
Glucagonoma, Jaundice, Neuroendocrine neoplasm, Elevated circulating parathyroid hormone level, A... ORPHA:913
Mccune-Albright Syndrome
Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce... OMIM:174800
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Weigh... ORPHA:97287
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Combined Oxidative Phosphorylation Deficiency 50
Short stature, Intrauterine growth retardation, Adrenal insufficiency OMIM:619025
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Vipoma
Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Increased circulating gonadotro... ORPHA:97282
Somatostatinoma
Steatorrhea, Neoplasm of the pancreas, Intrahepatic cholestasis, Gallbladder dysfunction, Hepatom... ORPHA:97283
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia, Hyperlipidemia ORPHA:364
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Growth delay, Splenomegaly, Hypoglycemia, Hypercholesterolemia OMIM:306000
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... ORPHA:786
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Neonatal hypoglycemia, Anterior hypopituitarism, Growth delay, Prolonged neonata... ORPHA:631
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Hypoglycemia, Decreased circulating cortisol level, Neonatal death OMIM:618835
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Hypoglycemia, Decreased circulating cortisol level, Neonatal death OMIM:618839
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Short stature, Glycosuria, Failure to thrive, Postprandial ... ORPHA:2089
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Birth length les... OMIM:300148
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Nelson Syndrome
Anterior hypopituitarism, Secondary hypercortisolism, Diabetes insipidus, Adrenocorticotropic hor... ORPHA:199244
Temple Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Precocious p... ORPHA:254516
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Para... OMIM:171400
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism... OMIM:616113
Diarrhea 13
Failure to thrive, Hepatic steatosis, Recurrent hypoglycemia OMIM:620357
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
2P21 Microdeletion Syndrome
Growth delay, Failure to thrive, Hypoglycemia, Hypogonadism ORPHA:163693
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Hepatic stea... ORPHA:79084
Glucocorticoid Deficiency 2
Abnormal circulating renin, Decreased circulating cortisol level, Recurrent hypoglycemia, Increas... OMIM:607398
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Glycogen Storage Disease Iii
Hepatomegaly, Hyperlipidemia, Hypoglycemia, Short stature, Hepatic fibrosis OMIM:232400
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Failure to thrive, Hepatosplenome... ORPHA:79237
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis OMIM:620195
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
Glucagonoma
Steatorrhea, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Increased circulat... ORPHA:97280
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Neoplasm of the adrenal gland, Decreased circulating renin level, Increased circulating cortisol ... ORPHA:231625
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, Hepatic fibro... ORPHA:280356
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Precocious puberty, Absence of pubertal development, Primary... OMIM:300200
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Growth delay, Short stature, Splenomegaly, Hypo... OMIM:261750
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Ppoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97278
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Ketotic hypoglycemia, Decreased circulating dehydroepiandrosterone concent... ORPHA:361
Laron Syndrome
Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypohidrosis, Severe short... ORPHA:633
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Failure to thrive, Intrauterine growth retardation, Hypoglycemia, Hepatic steatosis OMIM:619048
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Postnatal growth retardation, Short stature, Hyperhidrosis, Hypoglycemia, Small for gestational age ORPHA:231137
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Increased serum testosterone level, Cholestasis, Precocious... ORPHA:562
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Severe postnatal growth retardation, Severe intrauterine growth ret... ORPHA:73272
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Short stature, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:616033
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis ORPHA:26792
Grfoma
Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97261
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Intrauterine growth retardation, Type I diabetes mellitus, Diabetes mellitus, Smal... OMIM:606176
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma... ORPHA:3143
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Hyperpitui... ORPHA:249
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Neonatal hypoglycemia, Increased serum testo... ORPHA:90791
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Hemochromatosis, Neonatal
Cirrhosis, Cholestasis, Hepatic fibrosis, Hepatocellular necrosis, Prolonged neonatal jaundice, I... OMIM:231100
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia, Weight los... ORPHA:2126
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diab... OMIM:604367
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Hypoketotic hyp... ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Failure to thrive, Hypoglycemia, Hepatomegaly OMIM:618958
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Hyperaldosteronism, Familial, Type Iv
Elevated aldosterone:renin ratio, Hyperaldosteronism OMIM:617027
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Failure to thrive, Decreased... ORPHA:90790
Donohue Syndrome
Postnatal growth retardation, Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, C... OMIM:246200
Cushing Disease
Increased urinary cortisol level, Increased body weight, Impaired glucose tolerance, Adrenal hype... ORPHA:96253
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Pancreatitis, Hepatic steatosis, Adrenal insufficiency OMIM:619386
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... ORPHA:652
Propionic Acidemia
Hypoglycemia, Hepatomegaly ORPHA:35
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating ACTH concentration, Hypoglycemia, Adrenocorticotropic h... ORPHA:199299
Silver-Russell Syndrome 2
Short stature, Neonatal hypoglycemia, Hyperhidrosis, Intrauterine growth retardation OMIM:618905
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Maturity-onset diabetes of the young, Precocious puberty, Obesity, ... ORPHA:254531
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Hypoglycemia, Hypogonadotropic hypogonadism, Short stature ORPHA:48431
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Delayed puberty, Postnatal growth retardation, Thyroiditis, Short stature, Decreased serum insuli... OMIM:618985
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Growth delay, Failure to thrive, Hyperhidrosis, Neonatal death, Intrauterine growth retardation, ... OMIM:245400
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Hyperinsulinemia, Splenomegaly ORPHA:66518
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia ORPHA:289504
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Combined Oxidative Phosphorylation Deficiency 10
Intrauterine growth retardation, Failure to thrive, Hypoglycemia, Small for gestational age OMIM:614702
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona... ORPHA:99889
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age OMIM:615160
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypoglycemia, Short stature, Failure to thrive, Hyperhidrosis, Increased circulating prolactin co... ORPHA:35708
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Short stature, Glycosuria, Hypoglycemia, Diabetes mellitus OMIM:616026
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Short stature, Obesity, Type II diabetes mellitus ORPHA:3085
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:246900
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Severe postnatal growth retardation, Decreased body weight, Proportionate short ... ORPHA:391408
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased circulating fre... ORPHA:71212
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Isosexual precocious puberty, Premature puba... ORPHA:90795
Sheehan Syndrome
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... ORPHA:91355
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia ORPHA:5
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, Adrenocorticotropic hormone excess, Adrenal insufficiency OMIM:613743
Immunodeficiency 54
Postnatal growth retardation, Adrenocorticotropic hormone excess, Short stature, Intrauterine gro... OMIM:609981
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hypoglycemia, Hepatomegaly ORPHA:156
Acute Adrenal Insufficiency
Delayed puberty, Adrenal hypoplasia, Androgen insufficiency, Increased circulating renin level, F... ORPHA:95409
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepato... ORPHA:264580
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Hypothyroidism, Intrauterine growth retardation, Hypoglycemia, Smal... ORPHA:397590
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Addison Disease
Delayed puberty, Hypoparathyroidism, Adrenal hypoplasia, Androgen insufficiency, Hypoglycemia, In... ORPHA:85138
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Neonatal hypoglycemia, Decreased response to growth hormone stimula... OMIM:606407
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
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
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Neonatal hypoglycemia, Adrenocorticotr... ORPHA:289548
Adenohypophysitis
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Abnormal size of pituitary... ORPHA:95512
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Pseudohypoaldosteronism OMIM:264350
Panhypophysitis
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... ORPHA:95513
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:2394
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Neonatal hypoglycemia, Adrenocorticotr... ORPHA:168558
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly OMIM:266150
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Increased circulating renin level,... OMIM:177735
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Hypothyroidism, Short stature, Growth delay, Recurrent hypoglycemia, Intrauterin... OMIM:616817
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, In... OMIM:261680
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Short stature, Failure to thrive, Decreased circulating aldost... ORPHA:320
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia OMIM:248360
Reni Syndrome
Hypertriglyceridemia, Hypothyroidism, Hypogonadism, Hypoglycemia, Adrenal insufficiency OMIM:617575
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Postnatal growth retardation, Hepatocellular adenoma, Cirrhosis, Hepatomega... ORPHA:79240
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Adrenocorticotropic hormone excess, Intestinal carcinoid, Increased serum serotonin... ORPHA:100079
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism OMIM:605635
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Hepatocellular carci... OMIM:180860
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Hepatomegaly, Pancreatitis, Fasting hypoglycemia, Hepatocellular ca... OMIM:232200
Achalasia-Addisonianism-Alacrima Syndrome
Adrenocorticotropin receptor defect, Short stature, Decreased circulating cortisol level, Decreas... OMIM:231550
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Maturity-onset diabetes of the young, Truncal obesity, Precocious p... ORPHA:96184
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Classic Galactosemia
Delayed puberty, Hepatomegaly, Jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia ORPHA:79239
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, H... ORPHA:528
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hepatic stea... ORPHA:363400
Mandibuloacral Dysplasia
Hypertriglyceridemia, Postnatal growth retardation, Hyperinsulinemia, Insulin resistance, Increas... ORPHA:2457
Mitochondrial Complex I Deficiency, Nuclear Type 16
Intrauterine growth retardation, Adrenal insufficiency OMIM:618238
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Failure to thrive, Hypoglycemia, Hyperglycemia OMIM:615453
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Hypoglycemi... OMIM:615577
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating ACTH level, Increased circulating androstenedione concentration, Neonatal h... ORPHA:90794
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating renin level, Increased circulat... OMIM:610600
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia ORPHA:79096
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Growth delay, Hepatic necrosis, Hepatic steatosis OMIM:231530
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Intrahepatic cholestasis, Jaundice, Hypoglycemia, Failure to thrive... OMIM:617093
Propionic Acidemia
Hepatomegaly, Pancreatitis, Short stature, Failure to thrive, Hypoglycemia OMIM:606054
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Hyperaldosteronism OMIM:619406
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Decreased c... OMIM:201750
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Hypoglycemia, Small for gestational age OMIM:618253
Silver-Russell Syndrome
Postnatal growth retardation, Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity... ORPHA:813
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Inappropriat... ORPHA:226307
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Severe intrauterine growth retardation, Pancreatic aplasia, Failure to thr... OMIM:609069
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level OMIM:611489
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Decreased body weight, Short stature, Elevated circulating growth h... OMIM:608747
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Increased circulating free fatty acid level, Hypoglycemia, Hepatic ste... OMIM:605911
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Failure to th... OMIM:212140
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Hypoglycemia, Hepatomegaly, Hepatic steatosis ORPHA:42
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice OMIM:616483
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Neonatal hypoglycemia, Splenomegaly OMIM:619046
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycem... ORPHA:79319
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia, Failure to thrive OMIM:210200
Pancreatic Agenesis 2
Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Diabet... OMIM:615935
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Failure to thrive, Neonatal death, Intrauterine growth retardation, Hypogl... OMIM:619055
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, ... OMIM:619418
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Failure to thrive, Short stature, Intrauterine growth retardation, Hypoglycemia OMIM:618005
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hypoglycemia OMIM:616355
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating reni... ORPHA:171876
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Severe postnatal growth retardation, Im... ORPHA:769
Maple Syrup Urine Disease, Type Ia
Hypoglycemia, Pancreatitis OMIM:248600
Glycerol Kinase Deficiency
Hypertriglyceridemia, Chronic pancreatitis, Short stature, Growth delay, Adrenocortical hypoplasi... OMIM:307030
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesit... OMIM:615812
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Cirrhosis, Jaundice, Hypoglycemia OMIM:617049
Mirage Syndrome
Adrenal hypoplasia, Decreased body weight, Hypergonadotropic hypogonadism, Short stature, Hypopla... OMIM:617053
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypoglycemia OMIM:600649
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Leprechaunism
Postnatal growth retardation, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Decreased bod... ORPHA:508
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Glycosuria, Diabetes mellit... OMIM:617253
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Small pituitary gland, Short stature, Central adrenal insufficiency, Hypogonadot... OMIM:612079
Triple A Syndrome
Short stature, Anterior hypopituitarism, Adrenal insufficiency ORPHA:869
Carney Complex
Thyroid carcinoma, Neoplasm of the pancreas, Increased circulating insulin-like growth factor 1 c... ORPHA:1359
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Anterior pit... OMIM:618160
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hypoglycemia, Hepatomegaly, Pancreatitis OMIM:251000
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Hyperlipidemi... OMIM:232220
Smith-Kingsmore Syndrome
Large for gestational age, Hypoglycemia, Rhizomelia OMIM:616638
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Increased circulating renin level, Hyperaldosteronism OMIM:620126
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen content, Hepa... OMIM:614921
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Hepatomegaly, Hepatic steatosis OMIM:201450
Non-Functioning Pituitary Adenoma
Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease... ORPHA:91349
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Cholestasis, Biliary cirrhosis, Hepatic fibrosis, Nodular regenerative hyperplasia ... OMIM:620454
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Periportal fibrosis, Portal hypertension, Growth delay, Hepatocellular ne... OMIM:251880
Long-Olsen-Distelmaier Syndrome
Failure to thrive, Hypoglycemia OMIM:620609
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Increased circulating renin level, Hyperaldosteronism OMIM:620125
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone 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, Hypothyroidism, Primary adrenal insufficiency, Decreased... OMIM:240300
Ane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Reduced circulating prola... ORPHA:157954
Isolated Complex I Deficiency
Hepatomegaly, Failure to thrive, Intrauterine growth retardation, Hypoglycemia, Diabetes mellitus ORPHA:2609
Neurooculorenal Syndrome
Postnatal growth retardation, Decreased circulating ACTH concentration, Central hypothyroidism, D... OMIM:620305
X-Linked Adrenoleukodystrophy
Increased circulating ACTH level, Abnormality of adrenal physiology, Adrenal insufficiency ORPHA:43
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin resi... ORPHA:79086
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Steatorrhea, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic f... OMIM:602579
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Increased circulating renin level, Failure to thrive, Growt... OMIM:214700
Apparent Mineralocorticoid Excess
Growth delay, Decreased circulating renin level, Decreased circulating aldosterone level, Short s... OMIM:218030
D-Glyceric Aciduria
Growth delay, Failure to thrive, Hypoglycemia OMIM:220120
Glutaric Acidemia I
Failure to thrive, Hypoglycemia, Hepatomegaly OMIM:231670
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Increased circulating free fatty acid level, Hypoketotic hypoglycemia OMIM:610768
Bachmann-Bupp Syndrome
Large for gestational age, Hypoglycemia OMIM:619075
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hepatic periportal necrosis, Glycosuria, Neonatal death, Hypoglycemia, He... OMIM:231680
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Slender build OMIM:617600
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Intrauterine growth retardation, Hypoglycemia OMIM:620275
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hypoglycemic seizures, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Xanth... ORPHA:79259
Wolman Disease
Growth delay, Adrenal calcification, Adrenal insufficiency ORPHA:75233
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperlipidemia, Growth delay, Hyperglycemia, Glucose intolerance, Insulin-resis... OMIM:608612
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia OMIM:255120
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hepatomegaly, Hyperinsulinemia, Hypercholesterolemia, Acute pancreatitis, H... OMIM:151660
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:212138
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Decreased circulating inhibin B concentration, Stillbirth, Abnormal response to ... ORPHA:95699
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Neonatal death OMIM:620300
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Fasting hypo... ORPHA:96182
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology OMIM:300858
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hepatomegaly OMIM:229700
Immunodeficiency 10
Hypohidrosis, Hypoglycemia, Hepatomegaly, Splenomegaly OMIM:612783
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia OMIM:611126
Combined Oxidative Phosphorylation Deficiency 59
Ketotic hypoglycemia, Failure to thrive, Cholelithiasis OMIM:620646
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis ORPHA:348
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia OMIM:301032
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Flynn-Aird Syndrome
Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypoglycemia, Rhizomelia, Small for gestational age OMIM:607143
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Mitochondrial Trifunctional Protein Deficiency 1
Failure to thrive, Cholestasis, Small for gestational age, Hypoketotic hypoglycemia OMIM:609015
Glycogen Storage Disease Ic
Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Hyper... OMIM:232240
Congenital Disorder Of Glycosylation, Type Iie
Jaundice, Hepatomegaly, Short stature, Failure to thrive, Growth delay, Splenomegaly, Intrauterin... OMIM:608779
Shashi-Pena Syndrome
Intrauterine growth retardation, Hypoglycemia OMIM:617190
Mandibuloacral Dysplasia With Type A Lipodystrophy
Postnatal growth retardation, Hepatomegaly, Hyperinsulinemia, Hyperlipidemia, Impaired glucose to... OMIM:248370
X-Linked Cerebral Adrenoleukodystrophy
Primary adrenal insufficiency, Decreased circulating cortisol level, Male hypogonadism ORPHA:139396
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hypoketotic hypoglycemia, Obesity, Increased circulating free fatty acid ... ORPHA:26793
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Hyperglycemia, Weight loss ORPHA:134
Fanconi-Bickel Syndrome
Postnatal growth retardation, Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Glyco... OMIM:227810
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Microvesicular hepatic steatosis, Cholestasis, Failure to thrive, Intrauteri... OMIM:617156
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Panhypopituitarism, Pr... OMIM:146510
Kearns-Sayre Syndrome
Short stature, Primary adrenal insufficiency, Diabetes mellitus, Hypoparathyroidism OMIM:530000
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Postnatal growth retardati... ORPHA:54595
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Microvesicular hepatic steatosis, Hypothyroidism, Growth delay, Intrauteri... ORPHA:66634
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Neonatal hypoglycemia, Hepatic steatosis, Growth delay ORPHA:445038
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypoglycemia, Macrovesicular hepatic steatosis, Bile duct proliferation OMIM:618329
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Hypoglycemia, Hepatomegaly OMIM:251110
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Hepatocellular necrosis, Hepatic stea... OMIM:201475
Corticosterone Methyloxidase Type I Deficiency
Increased circulating renin level, Decreased circulating aldosterone level, Growth delay OMIM:203400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Postnatal growth retardation, Steatorrhea, Hepatomegaly, Pancreatic fibrosis, Hy... OMIM:616263
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia, Obesity OMIM:608624
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Failure to thrive, Splenomegaly, Insulin re... OMIM:613327
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Hypoglycemia OMIM:619355
Neonatal Adrenoleukodystrophy
Short stature, Primary adrenal insufficiency ORPHA:44
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Short stature, Growth delay, Central adren... OMIM:616007
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Cholestasis, Failure to thrive in infancy, Diffuse ... ORPHA:746
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Hypoglycemia OMIM:210210
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Pseudohypoaldosteronism OMIM:614492
Immunodeficiency 59 And Hypoglycemia
Short stature, Prolonged neonatal jaundice, Hypoglycemia, Hepatomegaly OMIM:233600
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Growth delay, Failure to thrive, Splenomegaly,... OMIM:276700
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis ORPHA:26791
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Cachexia, Neoplasm of the adrenal cortex, Short stature, Hashimoto thyroiditis... ORPHA:109
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Neonatal hypoglycemia ORPHA:457485
Kabuki Syndrome 2
Postnatal growth retardation, Neonatal hypoglycemia, Decreased body weight, Short stature, Intrau... OMIM:300867
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Hypoglycemia, Compensated hypothyroidism ORPHA:480864
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, He... OMIM:203800
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Adrenomyodystrophy
Short stature, Primary adrenal insufficiency ORPHA:977
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Failure to thrive, Hepatic steatosis ORPHA:99901
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Growth delay, Adrenal... ORPHA:427
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Growth delay, Hypogonadism, Adren... ORPHA:300298
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia ORPHA:228305
Liddle Syndrome 2
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:618126
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Hypoglycemia, Premature pubarche, Premature thelarche OMIM:616878
Deeah Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hepatomegaly, Anter... OMIM:619004
Perlman Syndrome
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:267000
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ... OMIM:201810
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Neonatal hypoglycemia, Severe postnatal growth retardation ORPHA:35173
Prader-Willi Syndrome
Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp... OMIM:176270
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Macrovesicular hepatic steatosis, Nonketotic hypoglycemia, Hypoglycemia, Hepatic ca... OMIM:608836
East Syndrome
Increased circulating renin level, Hyperaldosteronism ORPHA:199343
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia, Small for gestational age OMIM:614501
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:565624
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Rhizomelia, Growth delay, Intrauterine growth retardation, Hepatic steatosis OMIM:616271
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Recurrent hypoglycemia, Weig... ORPHA:20
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98754
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hepatomegaly, Hypoketotic hypoglycemia ORPHA:159
Liddle Syndrome 1
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:177200
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pa... OMIM:608594
Autoimmune Polyendocrine Syndrome, Type Ii
Hypothyroidism, Primary adrenal insufficiency, Exocrine pancreatic insufficiency, Type II diabete... OMIM:269200
Prolactinoma
Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Pituitary hy... ORPHA:2965
Dominant Beta-Thalassemia
Delayed puberty, Hypoparathyroidism, Hypothyroidism, Growth delay, Hypopituitarism, Diabetes mell... ORPHA:231226
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Periportal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Failure to thriv... OMIM:124000
Gitelman Syndrome
Delayed puberty, Neoplasm of the pancreas, Maternal diabetes, Graves disease, Hashimoto thyroidit... ORPHA:358
Sotos Syndrome
Increased body weight, Prolonged neonatal jaundice, Neonatal hypoglycemia, Glucose intolerance OMIM:117550
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98793
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hypothyroidism, Hypogonadism, Diabetes mellitus, Adrenal insufficiency ORPHA:231222
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hyperlipidemia, Hypoketotic hypoglycemia, Hepatic calcification ORPHA:157
Xp21 Deletion Syndrome
Growth delay, Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency ORPHA:261476
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177904
Congenital Syphilis
Pancreatitis, Prolonged neonatal jaundice, Hepatosplenomegaly, Intrauterine growth retardation, H... ORPHA:499009
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177901
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Hereditary Fructose Intolerance
Jaundice, Episodic hyperhidrosis, Hepatomegaly, Growth delay, Reactive hypoglycemia ORPHA:469
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Cholestasis, Portal hypertension, Bile duct proliferation, Short stature, Failure to t... OMIM:613658
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:231632
Distal Deletion 13Q
Short stature, Primary adrenal insufficiency ORPHA:1590
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Alg12-Cdg
Failure to thrive, Recurrent hypoglycemia, Decreased serum insulin-like growth factor 1, Intraute... ORPHA:79324
Leigh Syndrome
Intrauterine growth retardation, Failure to thrive, Hypoglycemia, Growth delay ORPHA:506
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Hepatomegaly OMIM:246450
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Precocious puberty, Obesity, Hepatosplenomegaly, Hypoglycemia, Chol... OMIM:301066
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Growth delay, Failure to thrive, Hyperhidrosis, Hypoglycemia, Hepatic steatosis ORPHA:17
Pyruvate Carboxylase Deficiency
Hepatomegaly, Growth delay, Failure to thrive, Hyperglycemia, Hypoglycemia ORPHA:3008
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Shigellosis
Splenic abscess, Cholestasis, Peritonitis, Failure to thrive in infancy, Hypoglycemia ORPHA:810
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pa... OMIM:269700
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hyperaldosteronism OMIM:613090
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Jaundice OMIM:615751
Beta-Thalassemia Major
Delayed puberty, Hypoparathyroidism, Hypothyroidism, Growth delay, Hypopituitarism, Diabetes mell... ORPHA:231214
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia OMIM:620451
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Hepatic calcification, Hepatic steatosis ORPHA:228308
Myasthenia Gravis
Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymu... ORPHA:589
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Increased circulating renin level, Hyperaldosteronism, Short stature OMIM:612780
Andersen-Tawil Syndrome
Short stature, Hyperaldosteronism, Growth delay ORPHA:37553
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Jaundice, Growth delay, Failure to thrive, Neonatal death OMIM:617248
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal insufficiency,... ORPHA:91347
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Primary hyperaldosteronism, Decreased circulating renin level OMIM:615474
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Fructose Intolerance, Hereditary
Cirrhosis, Jaundice, Hepatomegaly, Glycosuria, Failure to thrive, Hypoglycemia, Hepatic steatosis OMIM:229600
Poems Syndrome
Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insufficiency, Hypogonadism,... ORPHA:2905
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia OMIM:620423
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Growth delay, Failure to thrive, Intrauterine growth retardation, Hypoglycemia ORPHA:79282
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Growth delay, Failure to thrive, Splenomegaly, Hypoglycemia OMIM:252010
Holoprosencephaly
Anterior hypopituitarism, Diabetes insipidus, Panhypopituitarism, Abnormality of the spleen, Fail... ORPHA:2162
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:572798
Cholera
Hypoglycemia ORPHA:173
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Bartter Syndrome, Type 3
Increased circulating renin level, Hyperaldosteronism, Hyperactive renin-angiotensin system OMIM:607364
Primary Fanconi Renotubular Syndrome
Growth delay, Glycosuria, Hypoglycemia, Weight loss ORPHA:3337
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,... ORPHA:91350
Holoprosencephaly 1
Short stature, Hypoglycemia, Adrenal hypoplasia, Diabetes insipidus OMIM:236100
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kinas... ORPHA:96180
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Increased circulating renin level, Failure to thrive, Short... OMIM:601678
Bartter Syndrome Type 4
Severe failure to thrive, Hyperactive renin-angiotensin system, Increased circulating renin level... ORPHA:89938
Histiocytoid Cardiomyopathy
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:137675
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Beckwith-Wiedemann Syndrome
Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Abnormal pancreas morphology, Adr... ORPHA:116
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Cholesteryl Ester Storage Disease
Adrenal calcification, Adrenal insufficiency OMIM:278000
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Hypertriglyceridemia, Hyperinsulinemia, Decreased... ORPHA:79474
Adrenoleukodystrophy
Primary adrenal insufficiency, Hypogonadism OMIM:300100
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Increased circulating gonadotropin lev... ORPHA:251510
Menkes Disease