Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
zinc finger and BTB domain containing 20
Synonyms:
D16Wsu73e,  Zfp288,  1300017A20Rik,  A930017C21Rik,  HOF,  7330412A13Rik

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 Zbtb20 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Zbtb20 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Primrose Syndrome
Self-injurious behavior, Anxiety, Neurodegeneration, Attention deficit hyperactivity disorder, Ag... OMIM:259050
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Short stature, Hypogonadism ORPHA:3042

The table below shows human diseases predicted to be associated to Zbtb20 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acid-Labile Subunit Deficiency
Mild postnatal growth retardation, Insulin insensitivity, Delayed puberty, Reduced insulin like g... OMIM:615961
Short Stature Due To Ghsr Deficiency
Decreased body weight, Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased seru... ORPHA:314811
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Abnormal circulating insulin concentration, Short stature, Decreased circulating fr... ORPHA:171706
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... ORPHA:280397
Short Stature Due To Partial Ghr Deficiency
Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased serum insulin-like growth f... ORPHA:314802
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Reduced circulating growth hormone concentration, Prolonged n... OMIM:262400
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... OMIM:262700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia, Short stature ORPHA:366
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Short stature, Truncal obesity, Hypoglycemia, Diabe... ORPHA:181393
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... ORPHA:324575
Hyperlysinemia, Type I
Hyperactivity, Seizure, Cognitive impairment OMIM:238700
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate amin... OMIM:619868
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Hypoinsu... ORPHA:552
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic fai... OMIM:617156
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hyperbilirubinemia, Decreased resp... OMIM:609734
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyroidism OMIM:616113
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Increase... ORPHA:446
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia, Intrauterine growth retardation, Severe short stature OMIM:223500
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Hyperammonemia, Small for gestational age, Increased serum pyruvate, El... OMIM:615160
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive, Hydrocephalus, Jaundice OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Elevated circulating aspartate ami... OMIM:620010
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic g... ORPHA:369
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Abnormal neuron morphology, Diffuse c... ORPHA:412066
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... ORPHA:276580
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration, Seizure OMIM:613068
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... ORPHA:6
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Hyperactivity, Focal impaired awareness seizure, Tonic seizure, Self-injurious be... OMIM:619970
Leukoencephalopathy, Progressive, With Ovarian Failure
Depression, Neurodegeneration, Cerebellar atrophy, Dementia OMIM:615889
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyp... OMIM:614736
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... ORPHA:276575
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Seizure OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Seizure ORPHA:356996
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Elevated circulating aspartate ... OMIM:619048
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Generaliz... ORPHA:2382
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... ORPHA:276556
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, ... OMIM:232400
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Severe intrauterine growth retardation, Insulin resistance, Small for gestatio... ORPHA:73272
Landau-Kleffner Syndrome
Atypical absence seizure, Social and occupational deterioration, Focal motor seizure, Hyperactivi... ORPHA:98818
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Cerebral atrophy, Generalized-onset seizure, Seizure, Irritability OMIM:616657
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Cognitive impairment, Bilateral tonic-clonic seizure with focal... ORPHA:65683
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubine... OMIM:251880
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Short stature ORPHA:364
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Generalized myoclonic seizure, Mental deterioration, Neurodegeneration, Cerebel... OMIM:610951
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology, Glucagonoma, Increas... ORPHA:438274
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... OMIM:605814
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Elevated... OMIM:619386
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia, Hypoglycemia, Hypogonadism, Growth delay ORPHA:163693
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Cerebral cortical atrophy, Hyperactivity, Impulsivity, Febrile seizure (within the age range of 3... OMIM:301008
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Failure to thrive, Hypoglycemia, Small for gestational age OMIM:614702
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Anxiety, Infantile spasms, Aggressive behavior, Seizure OMIM:619031
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Decreased circulating aldosterone level, Increased circulating 18-hydroxycorti... OMIM:610600
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Increased hepatic glycoge... OMIM:613027
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Elevat... OMIM:212140
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hepatic failure, Elevated alpha-fetoprotein, Hyperammonemia, Cirrhosis, Elevat... OMIM:617049
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive, Hepatomegaly ORPHA:67046
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia, Hyponatremia, Hyperkalemia OMIM:240200
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... ORPHA:556037
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Type II diabetes mellitus, Hepatomegaly, Splenomega... OMIM:616860
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Intrauterine growth retardat... ORPHA:26792
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Hyperbilirubinemia, Intermittent jaundice ORPHA:3111
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hypoglycemia, E... OMIM:617950
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Short stature, Small for gestational age, Hypoglycemia, Neonatal hypoglyce... ORPHA:231140
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Hyperbilirubinemia, Hyper... ORPHA:1667
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... ORPHA:556030
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia, Elevated hepatic transaminase, Methylmalonic acidemia, Dicarboxy... ORPHA:289504
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Hyperactivity, Impulsivity, General... ORPHA:101039
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating tyrosine concentration, Failure to thrive, Hypoargininemia, Abnormal circula... ORPHA:79096
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged neonatal jaun... OMIM:619256
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hepatomegaly, Hyperammonemia, Hepatic failure, Hyperisoleucinemia, Hypoglycemi... ORPHA:2394
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Short stature, Hypoglycemia, Hypertriglyceridem... OMIM:307030
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Atonic seizure, Hyperactivity, Impulsivity, Infantile spasms, Myoclonic... OMIM:617113
Blue Diaper Syndrome
Decreased circulating T4 concentration, Increased body weight, Elevated hepatic transaminase, Ele... ORPHA:94086
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Myoclonus, Anxiety, Bilateral tonic-clonic seizure, Attention d... OMIM:619191
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Depression, Mental deterioration, Anxiety, Memory impa... ORPHA:100070
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Growth delay OMIM:616111
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Hyperammonemia ORPHA:35
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... OMIM:615238
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... OMIM:614300
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure... OMIM:614817
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, ... ORPHA:2126
Rasmussen Subacute Encephalitis
Focal impaired awareness seizure, Cerebral cortical hemiatrophy, Emotional lability, Focal motor ... ORPHA:1929
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Short stature, Ketotic hypoglycemi... ORPHA:2089
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Intrauterine growth retardation, Abnormal circulating acetylcarnitine concentr... ORPHA:71212
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Failure to thrive OMIM:610090
Inherited Creutzfeldt-Jakob Disease
Senile plaques, Apathy, Neuronal loss in central nervous system, Central nervous system degenerat... ORPHA:282166
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant dia... ORPHA:79085
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Intrauterine growth retardation... OMIM:618838
Encephalopathy, Progressive, With Or Without Lipodystrophy
Neuronal loss in central nervous system, Hyperactivity, Cerebral atrophy, Mental deterioration, M... OMIM:615924
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Neurodegeneration, Aggressive behavior, Cerebellar atrophy, Seizure, Dementia OMIM:300894
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Short stature, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:618120
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Ketotic hypoglycemia ORPHA:79159
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, H... OMIM:616278
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Birth length le... OMIM:300148
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Increased serum pyruvate, Hepatomegaly OMIM:614741
Temple Syndrome
Hydrocephalus, Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormon... ORPHA:254516
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Intrauterine growth retardation, Small for gestational age ORPHA:231147
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Intrauterine growth retardation, Hyperammonemia OMIM:618253
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia ORPHA:664
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Postnatal growth retar... ORPHA:79303
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
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Pyruvate Carboxylase Deficiency
Hyperalaninemia, Increased serum pyruvate, Hypoglycemia, Hepatomegaly OMIM:266150
Hepatic Veno-Occlusive Disease
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Increased body weight, Ja... ORPHA:890
Laron Syndrome
Abnormality of the endocrine system, Severe short stature, Truncal obesity, Hypoglycemia, Delayed... ORPHA:633
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Decreased serum... ORPHA:435660
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature, Increased insulin like gro... OMIM:619489
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Reduced radi... ORPHA:95715
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... ORPHA:913
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Short stature, Glycosuria, Hypoglycemia, Elevated hepatic transam... OMIM:616026
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Decreased circulating aldosterone level, Increased circulating renin level, Hy... OMIM:203400
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating reni... ORPHA:171876
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal ... ORPHA:280356
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... OMIM:606176
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... OMIM:214900
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Decreased HDL cholesterol concentration, ... OMIM:604367
Biliary Atresia, Extrahepatic
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... OMIM:210500
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Myoclonic Epilepsy Of Infancy
Generalized myoclonic seizure, Mental deterioration, Myoclonus, Febrile seizure (within the age r... ORPHA:86909
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Failure to thrive, Increased circulating renin level, Hyper... OMIM:177735
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Unconjugated hyperbilirubinemia, Hepatic failure OMIM:143500
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I... ORPHA:2088
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:255120
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Orthostatic Hypotension 1
Neonatal hypoglycemia, Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolact... OMIM:223360
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:600649
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Splen... OMIM:607765
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Intrauterine grow... OMIM:613370
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Self-injurious behavior, Inappropriate behavior, Memory impairment, Self-biting, N... OMIM:619827
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Aminoacylase 1 Deficiency
Hyperactivity, Cerebral atrophy, Cerebellar atrophy, Seizure OMIM:609924
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypertaurinemia, Elevated circulating aspartate aminotransferase concentration... OMIM:245400
Mitchell-Riley Syndrome
Annular pancreas, Hyperbilirubinemia, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent... OMIM:615710
Glycogen Storage Disease Ixd
Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:300559
Isolated Polycystic Liver Disease
Polycystic liver disease, Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas ORPHA:2924
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated circulating alanine ... OMIM:261680
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... ORPHA:95409
Diaminopentanuria
Neurodegeneration, Seizure OMIM:222350
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Decreased circulating cortisol level, Elevated circulating creatine kin... OMIM:618835
Hsd10 Mitochondrial Disease
Hypoglycemia, Elevated circulating tiglylglycine concentration OMIM:300438
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Decreased circulating cortisol level, Elevated circulating creatine kin... OMIM:618839
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva... OMIM:214950
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Steatorrhea, ... OMIM:235555
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Nephrogenic diabetes insipidus, Giant cell hepatitis, Hepatomegaly, Cholestati... OMIM:613404
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Hypon... ORPHA:199296
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin... ORPHA:435651
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function, Failure to thrive ORPHA:67048
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Increased total biliru... OMIM:618528
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... OMIM:618858
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... ORPHA:230
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral atrophy, Axonal degeneration, Depression, Cognitive impairment, Anxiety, Neurodegenerati... OMIM:615157
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Cerebellar atrophy, Seizure OMIM:613402
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Hyperactivity, Aggressive behavior, Seizure OMIM:604317
Glucocorticoid Deficiency 1
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm... OMIM:202200
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Impai... OMIM:606069
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudo... OMIM:264350
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Jaundice OMIM:616483
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Intrauterine growth... OMIM:618958
Addison Disease
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Failure to thrive, Decrease... ORPHA:85138
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure ORPHA:436151
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Elevated hepatic transaminase, Fasting hypogly... ORPHA:348
Glycine Encephalopathy
Hyperactivity, Agenesis of corpus callosum, Death in infancy OMIM:605899
Juvenile Huntington Disease
Cerebellar vermis atrophy, Hyperactivity, Depression, Myoclonus, Cerebellar atrophy, Seizure, Irr... ORPHA:248111
Bachmann-Bupp Syndrome
Hypoglycemia, Large for gestational age, Hyperbilirubinemia OMIM:619075
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Increased ... ORPHA:264580
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Short stature, Panhypopituita... OMIM:262600
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Cerebral atrophy, Cognitive impairment, Anxiety, Inapprop... ORPHA:309246
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure OMIM:300271
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Failure to thrive, Hyperammonemia OMIM:614739
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Decr... ORPHA:95717
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Postnatal growth retardation, Short stature, Small for gestational age ORPHA:231137
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia ORPHA:156
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Hepatomegaly, Microvesicular hepatic steatosis, Acute hepatic failure, Short s... OMIM:256810
Infantile Sialic Acid Storage Disease
Failure to thrive, Hydrocephalus, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Neonatal hypoglycemia... OMIM:619046
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Mirage Syndrome
Adrenal insufficiency, Hydrocephalus, Decreased body weight, Short stature, Hypergonadotropic hyp... OMIM:617053
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Decreased liver function, Hepatomegaly, Elevated hepatic transaminase OMIM:246900
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Hyperactivity, Self-injurious behavior, Generalized myoclonic seizure, Anxiet... OMIM:271980
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Hepatomegaly, Elevated circulating long chain fatty acid conce... OMIM:608836
Neurodegeneration With Brain Iron Accumulation 6
Mental deterioration, Depression, Neurodegeneration OMIM:615643
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Increased total bilirubin OMIM:174050
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Hepatocellular carcinoma... OMIM:601847
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Short stature ORPHA:329249
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Myeloma, Multiple
Amyloidosis OMIM:254500
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Cerebral atrophy, Mental deterioration, Neurodegeneration, Cerebellar ... OMIM:617672
Pyruvate Carboxylase Deficiency
Failure to thrive, Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hyperp... ORPHA:3008
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... ORPHA:79084
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hyperglycinemia, Met... OMIM:251000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... ORPHA:289548
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... OMIM:619662
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Hepatic failure, Increased serum pyruvate, Hyperprolinemia, Hype... OMIM:619355
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemi... ORPHA:88673
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
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulation test, Hypergona... OMIM:606407
Alzheimer Disease 4
Senile plaques, Cognitive impairment, Memory impairment, Neurofibrillary tangles, Cerebral amyloi... OMIM:606889
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Impulsivity, Cerebral atrophy, Depression, Epileptic spasm, Generalized-onset seiz... ORPHA:88616
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Hypogonadotropic hypogonadism, Intrauterine growth retardation, Short stature ORPHA:48431
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... ORPHA:681
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Post-Traumatic Pituitary Deficiency
Growth delay, Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hy... ORPHA:95619
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increa... ORPHA:79240
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, E... OMIM:212138
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Small for ge... OMIM:609015
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hydrocephalus, Decreased body weight, Hyperbilirubinemia, Elevated circulating lo... OMIM:614886
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... ORPHA:228305
Hyperchlorhidrosis, Isolated
Failure to thrive, Hyperkalemia, Hyponatremia OMIM:143860
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Postnatal growth retardation, Maturity-onset diabetes of the young, Hyperchol... ORPHA:254531
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia, Hypog... OMIM:617575
Lipoyltransferase 1 Deficiency
Decreased liver function, Increased total bilirubin, Elevated hepatic transaminase OMIM:616299
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Cortical myoclonus, Hyperactivity, Atonic seizure, Generalized myoclonic... ORPHA:168491
Timothy Syndrome
Hypoglycemia, Hypocalcemia, Hypothyroidism OMIM:601005
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Conjugat... OMIM:211600
Bile Acid Conjugation Defect 1
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:619232
Cln5 Disease
Atrophy/Degeneration affecting the central nervous system, Hyperactivity, Cerebral cortical atrop... ORPHA:228360
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... ORPHA:168782
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Hyperactivity, Focal impaired awareness seizure, Generalized myoclonic seizure, S... ORPHA:382
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... ORPHA:199299
Variant Abeta2M Amyloidosis
Cardiac amyloidosis, Hepatic amyloidosis, Amyloidosis of peripheral nerves, Cutaneous amyloidosis... ORPHA:314652
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Cerebral atrophy, Mental deterioration, Emotional lability, Neurodege... OMIM:610217
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... ORPHA:64743
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating crea... ORPHA:370
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Small for gestational age, Abnormality of the pancreas, Cholecystitis, Hypoth... ORPHA:69665
Hyperprolinemia, Type I
Status epilepticus, Hyperactivity, Aggressive behavior, Seizure OMIM:239500
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Propionic Acidemia
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Short stature, Hypoglycemia, Hyper... OMIM:606054
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... ORPHA:766
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Short stature, Delayed puberty, Delayed thelarche, Diabetes mellitus OMIM:616033
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive OMIM:210200
Cholestasis, Benign Recurrent Intrahepatic, 1
Pancreatitis, Hepatomegaly, Intermittent jaundice, Conjugated hyperbilirubinemia, Increased serum... OMIM:243300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Memory impairment, Neurofibrillary tangles, Global brain atrophy, ... OMIM:619132
Glycogen Storage Disease Ia
Hyperlipidemia, Pancreatitis, Hepatomegaly, Short stature, Hepatocellular carcinoma, Hypoglycemia... OMIM:232200
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Hyperuricemia OMIM:246450
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Isolated Biliary Atresia
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Severe failure to... ORPHA:30391
Mpi-Cdg
Decreased liver function, Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... ORPHA:79319
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Glycosuria, Hyp... OMIM:229600
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Short stature, Increased hepatic glycogen content, Chronic hepatitis, Elevated circ... OMIM:614921
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... OMIM:201475
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Hyperactivity, Aggressive behavior, Seizure OMIM:300983
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Hyperactivity, Focal impaired awareness seizure, Self-injurious behavi... ORPHA:485350
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Thyrotoxicosis with toxic multinodular goiter, Hypomagnesemia, Graves... ORPHA:79102
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Increased C-pep... ORPHA:528
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis, Elevated plasma branched chain amino acids, Elevated circulating L-al... OMIM:248600
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... OMIM:246200
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoglycemia, Hyperammonemia OMIM:615751
Glutaric Acidemia I
Hypoglycemia, Failure to thrive, Hepatomegaly, Elevated circulating glutaric acid concentration OMIM:231670
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic st... OMIM:201450
Pituitary Stalk Interruption Syndrome
Failure to thrive, Short stature, Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, A... ORPHA:95496
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartat... ORPHA:79302
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia, Microvesicular hepatic steatosis, Acute hepatic failure, Macrov... OMIM:613070
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Seizure OMIM:248510
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cre... ORPHA:99901
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Decreased body weight, Small for gestational age, Severe postnatal growth retardation, Hypoglycem... ORPHA:391408
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Hyperactivity, Aggressive behavior, Seizure OMIM:619470
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Mental deterioration, Neurodegeneration, Atrophy/Degeneration affecting the brainstem, Cerebellar... OMIM:612319
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Agenesis of corpus callosum OMIM:274270
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Jaundice, Hyperkalemia OMIM:608885
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ... ORPHA:90794
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior, Seizure OMIM:618362
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Periportal fibrosis, Elevated hepatic transaminase, Conjugated hyperbilirubine... OMIM:619484
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Acute hyperammonemia, Hyperammonemia, Hyperleucinemia, Decreased plasma carnit... OMIM:210210
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, I... OMIM:267700
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Growth delay, Small for ... OMIM:218030
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Small for gestational age, Elevated circulating creatine kinase concentration,... OMIM:619055
Familial Hypoaldosteronism
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Increased circ... ORPHA:427
Glycogen Storage Disease Xii
Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Elevated circulati... OMIM:611881
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Intrauterine growth retardation, ... ORPHA:769
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Prolonged neonatal jaun... OMIM:618892
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hepatic stea... ORPHA:363400
Cystinosis
Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Short stature, ... ORPHA:213
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Generalized myoclonic seizure, Seizure OMIM:618090
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... OMIM:220111
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity, Seizure ORPHA:521258
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine... ORPHA:159
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Pseudohypoaldosteronism Type 2
Growth delay, Hyperkalemia, Short stature ORPHA:757
Acth Deficiency, Isolated
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... OMIM:201400
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Short stature, Delayed puberty, Hypercalcemia, Obesity ORPHA:251004
Pearson Marrow-Pancreas Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Hepatic f... OMIM:557000
Wilson Disease
Hypoparathyroidism, Increased circulating copper concentration, Hepatomegaly, Hyperbilirubinemia,... OMIM:277900
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebellar vermis atrophy, Hyperactivity, Progressive language deterioration, Self-mutilation, Me... ORPHA:163681
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Splen... OMIM:608779
Neurodegeneration With Brain Iron Accumulation 4
Impulsivity, Mental deterioration, Depression, Neurodegeneration, Abnormal lower motor neuron mor... OMIM:614298
Silver-Russell Syndrome 2
Neonatal hypoglycemia, Intrauterine growth retardation, Short stature OMIM:618905
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Small for gestational age, Hypoketot... ORPHA:26793
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Dubin-Johnson Syndrome
Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice, Abnormality of ... ORPHA:234
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Nephrogenic diabetes insipidus, Giant cell hepatitis, Cholestatic liver diseas... OMIM:208085
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Postnatal growth retardation, Small for gestational age, Maturity-onset diabe... ORPHA:96184
Krabbe Disease
Hydrocephalus, Neurodegeneration, Diffuse cerebral atrophy, Motor deterioration, Seizure OMIM:245200
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Hepatosplenomegaly, Hypothyroidism... OMIM:613673
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Bipolar affective disorder, Hyperactivity, Seizure OMIM:619927
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Jaundice, Hyperuricemia OMIM:232800
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... OMIM:602579
Hypothyroidism Due To Tsh Receptor Mutations
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Increased circulatin... ORPHA:90673
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia ORPHA:5
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hepatomegaly, He... ORPHA:157
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism, Hyperkalemia OMIM:145260
Birk-Landau-Perez Syndrome
Agenesis of corpus callosum, Hyperkalemia, Increased circulating creatine kinase MB isoform, Grow... OMIM:617595
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Obesity ORPHA:3085
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hepa... ORPHA:567983
Classic Galactosemia
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Delayed puberty, Jaun... ORPHA:79239
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Failure to thrive, Hypoglycemia, Growth delay OMIM:220120
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Failure to thrive, Macrovesicular hepatic steatosis, Hypoglycemia, Elev... OMIM:618329
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior OMIM:309548
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the parathy... ORPHA:1227
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Cholecystitis, Uncon... OMIM:266200
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Arrhythmia, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradyca... OMIM:617182
Fraxe Intellectual Disability
Impulsivity, Hyperactivity, Aggressive behavior ORPHA:100973
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Hypermanganesem... OMIM:613280
Cystic Echinococcosis
Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Peritoneal abscess, Abnormality of t... ORPHA:400
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hypocalcemia, Short... OMIM:601198
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Short stature, Pancreatic fibrosis, Hep... OMIM:232220
Tenorio Syndrome
Hypoglycemia, Hydrocephalus, Hypoinsulinemia OMIM:616260
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Increased circulating free fatty acid level, Hypertriglyce... ORPHA:2457
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased liver function, Hepatomegaly, Hyperam... ORPHA:26791
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Brain atrophy, Seizure, Paroxysmal bursts of laughter OMIM:618718
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Fumarase Deficiency
Failure to thrive, Hyperbilirubinemia, Hepatic failure, Cholestasis, Agenesis of corpus callosum OMIM:606812
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Hypoglycemia, Hypothyroidism, Postnatal growth retardation, Intrauteri... ORPHA:397590
Congenital Dyserythropoietic Anemia Type Iii
Hyperbilirubinemia, Short stature, Elevated hepatic transaminase, Increased serum iron, Increased... ORPHA:98870
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hepatomegaly, Hy... ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 35
Hypoglycemia, Hydrocephalus, Intrauterine growth retardation OMIM:616355
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Growth delay, Small for gestational age, Short stature, Hypothyroidism, Delayed puberty, Recurren... OMIM:616817
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice OMIM:605479
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive behavior, Seizure OMIM:619467
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Short stature OMIM:248360
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... OMIM:603553
Leptin Deficiency Or Dysfunction
Obesity, Decreased serum leptin, Hypogonadism OMIM:614962
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Hyperactivity, Anxiety, Bilateral tonic-clonic seizure, Aggressive behavior, Gener... OMIM:300558
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Growth delay, Hyperkalemia ORPHA:57
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Mild postnatal growth retardation, Small for gestational age, S... OMIM:224120
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Elevated circulating aspartate aminotransferase concentration, Elevated circu... OMIM:619685
Abeta Amyloidosis, Dutch Type
Mental deterioration, Cerebral amyloid angiopathy, Seizure, Dementia ORPHA:100006
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level OMIM:600955
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... ORPHA:293978
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Hypokalemia, Increased circulating c... ORPHA:786
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glycosuria, Elevated circulating glutaric acid concentration, Hypoglycemia, Hepatic... OMIM:231680
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Seizure, Abnormal agg... ORPHA:3077
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Tyrosinemia, Type I
Failure to thrive, Hypophosphatemic rickets, Hepatomegaly, Hepatic failure, Elevated alpha-fetopr... OMIM:276700
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition, Dementia OMIM:105150
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Hereditary Elliptocytosis
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Prolonged neonatal jaundice, Neonatal hyperbili... ORPHA:288
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Conjugate... ORPHA:53035
Vipoma
Hepatomegaly, Adrenocortical adenoma, Increased circulating prolactin concentration, Weight loss,... ORPHA:97282
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
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Severe intrauterine growth retardation, Hyperinsul... ORPHA:508
Hsd10 Disease, Infantile Type
Hypoglycemia, Hyperammonemia ORPHA:391428
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperammonemia, Hypoglycemia, Hyperuricemia, Weight loss, Hyperglycemia ORPHA:134
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Depression, Anxiety, Neurodegeneration, Emotional lability, Motor ... ORPHA:803
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... ORPHA:480864
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Decreased response to growth hormone st... OMIM:203800
Cockayne Syndrome Type 1
Failure to thrive, Increased blood urea nitrogen, Hepatomegaly, Elevated hepatic transaminase, Ma... ORPHA:90321
Lysosomal Acid Lipase Deficiency
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, A... ORPHA:275761
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Hyperammonemia, Premature thelarche, Elevated c... OMIM:616878
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Jaundice OMIM:235700
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia ORPHA:682
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Decreased liver function, Failure to thrive, Hypocalcemia, Intrauterine growth ret... OMIM:613658
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hepatomega... OMIM:235200
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoketotic hypoglycemia, Hypoglycemic seizures, Growth delay, Hepatic... OMIM:231530
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity, Seizure OMIM:300979
Isolated Complex I Deficiency
Failure to thrive, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Diabetes mellitus, Intra... ORPHA:2609
Pancreatic And Cerebellar Agenesis
Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Diabetes mellitus, Hyperglycemia OMIM:609069
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... ORPHA:14
Primary Biliary Cholangitis
Abnormality of the thyroid gland, Hepatic failure, Abnormal circulating lipid concentration, Cirr... ORPHA:186
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614495
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Short stature, Abnormali... ORPHA:320
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Cholestasis, Prolonged neonatal jaundice, Bile duct proliferation,... OMIM:301068
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Hereditary Fructose Intolerance
Hypophosphatemia, Hepatomegaly, Reactive hypoglycemia, Chronic hepatic failure, Hyperuricemia, Hy... ORPHA:469
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Brain atrophy, Hyperactivity, Aggressive behavior, Seizure OMIM:615286
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Cog8-Cdg
Hypoglycemia, Elevated hepatic transaminase, Failure to thrive ORPHA:95428
Genetic Recurrent Myoglobinuria
Hypocalcemia, Elevated hepatic transaminase, Hyperphosphatemia, Highly elevated creatine kinase, ... ORPHA:99845
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Progressive language deterioration, Generalized-onset seizure, Aggressive behavior... OMIM:610042
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated hepatic transaminase, Increased t... ORPHA:91547
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... ORPHA:99827
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614496
Silver-Russell Syndrome
Intrauterine growth retardation, Precocious puberty, Postnatal growth retardation, Short stature,... ORPHA:813
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Elevated circulating glutaric acid concentration, Hypothyroidis... ORPHA:66634
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Glucose intolerance, Pituitary adenoma, Hypokalemia, Increased circulating ACT... OMIM:219090
Gm2-Gangliosidosis, Ab Variant
Apathy, Cerebral atrophy, Neurodegeneration, Seizure, Dementia OMIM:272750
Spherocytosis, Type 1
Cholelithiasis, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:182900
Caroli Syndrome
Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Hyperbilirubinemia, Hepatic failure, Cirrhosis, C... ORPHA:480520
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Glucose intolerance, Failure to thrive, Elevated circulating creatine kinase concentration, Impai... OMIM:610131
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... ORPHA:3337
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... ORPHA:90793
Adrenoleukodystrophy
Mental deterioration, Neurodegeneration, Attention deficit hyperactivity disorder, Seizure, Dementia OMIM:300100
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral cortical atrophy, Hyperactivity, Brain atrophy, Corpus callosum atrophy, Aggressive beha... ORPHA:369939
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Seizure OMIM:301013
Fanconi Renotubular Syndrome 1
Short stature, Hypophosphatemia, Glycosuria, Hypokalemia OMIM:134600
Smith-Kingsmore Syndrome
Hypoglycemia, Rhizomelia, Large for gestational age OMIM:616638
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Small for gestational age, Hepatocellular ... OMIM:180860
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Acute pancre... ORPHA:79086
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Fanconi-Bickel Syndrome
Failure to thrive, Hypophosphatemia, Hypokalemia, Glycosuria, Hypouricemia OMIM:227810
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... OMIM:232240
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:616689
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:612653
Liver Disease, Severe Congenital