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Gene: Slc52a3 MGI:1916948

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Gene Summary

Name:
solute carrier protein family 52, member 3
Synonyms:
2310046K01Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating bilirubin level Slc52a3tm2a(KOMP)Wtsi HET Early adult 2.57×10-07
abnormal vibrissa morphology Slc52a3tm2a(KOMP)Wtsi HET Early adult 2.36×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Slc52a3 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 Slc52a3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fazio-Londe Disease
Dysphagia OMIM:211500
Brown-Vialetto-Van Laere Syndrome 1
Death in childhood, Dysphagia OMIM:211530

The table below shows human diseases predicted to be associated to Slc52a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Edinburgh Malformation Syndrome
Frontal hirsutism, Neonatal hyperbilirubinemia OMIM:129850
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... OMIM:232700
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... ORPHA:324575
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Polyhydramnios, Large for gestational age, Obesity, Truncal obesity, Fasting hypogl... OMIM:240900
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Small for gestational age, Miscarriage, Insulin ... ORPHA:439167
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... OMIM:606528
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight ORPHA:314811
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia ORPHA:67046
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concent... OMIM:619386
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Seve... ORPHA:73272
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure ... ORPHA:2089
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes, Neonatal hyperbilirubinemia ORPHA:3363
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... ORPHA:6
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Hypoglycemia OMIM:223500
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, In... ORPHA:26792
2P21 Microdeletion Syndrome
Decreased fetal movement, Hypoglycemia, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive ORPHA:163693
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Hyperglycinemia, Death in... OMIM:245400
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... OMIM:620211
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Polyphagia OMIM:617885
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Abnormality of the kidney, Proteinuria, Hyperlipidemia, Failure to thrive ORPHA:369
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Increased urine succinate level, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, ... OMIM:619048
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Abnormal circulating selenium concentration ORPHA:171706
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Premature birth, Hypoglycemia OMIM:610090
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... ORPHA:276580
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic... ORPHA:289504
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Galactokinase Deficiency
Small for gestational age, Premature birth, Hypoglycemia, Hyperinsulinemia, Increased level of ga... ORPHA:79237
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Hypoglycemia, Hypospadias, Microphallus, Attention deficit hyperactivi... ORPHA:397590
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormal locali... ORPHA:446
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Aggressive behavior, Obesity, Micropenis OMIM:300148
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Intrauterine growth retardation, Premature birth, Hypoglycemia ORPHA:231147
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetali... OMIM:618835
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood... ORPHA:71529
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetali... OMIM:618839
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... OMIM:615980
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Death in infancy, Elevated circulating dodecanoylcarnitine concentratio... OMIM:619355
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Pyridoxal Phosphate-Responsive Seizures
Premature birth, Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating t... ORPHA:79096
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Ketotic hypoglycemia, De... ORPHA:79159
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Small for gestational age, Elevated circulating creatine kinase concentration, ... OMIM:619055
Combined Oxidative Phosphorylation Deficiency 36
Hyperalaninemia, Failure to thrive, Hypoglycemia, Aciduria OMIM:617950
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu... OMIM:615160
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... OMIM:256300
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Fasting hypoglycemia, ... ORPHA:276608
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Organic aciduria, Hypoglycemia OMIM:614741
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia ORPHA:67048
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood u... OMIM:617872
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Met... OMIM:246450
Hypotonia-Cystinuria Syndrome
Decreased fetal movement, Cystine crystalluria, Nephrolithiasis, Cystinuria, Hypocalcemia, Failur... OMIM:606407
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Generaliz... ORPHA:2088
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia OMIM:615026
Propionic Acidemia
Organic aciduria, Hypoglycemia, Hyperammonemia ORPHA:35
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Citrullinemia Type Ii
Restlessness, Hyperactivity, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Acute... ORPHA:247585
Hsd10 Mitochondrial Disease
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior... OMIM:300438
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Pyridoxine-Dependent Epilepsy
Restlessness, Hypoglycemia, Prenatal movement abnormality, Low APGAR score, Fetal distress, Mecon... ORPHA:3006
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperin... OMIM:262190
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight ORPHA:231140
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Failure to thrive, Hypoglycemia, Dysphagia OMIM:618958
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Intrauterine growth ret... OMIM:614702
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Hyperprolinemi... OMIM:619003
Hemochromatosis, Neonatal
Hypoglycemia, Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Increased ... OMIM:231100
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior, Overfriendliness OMIM:618010
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Transi... ORPHA:552
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... ORPHA:71212
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc... OMIM:615751
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Mesangial hypercell... OMIM:617575
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Large for gestational age, Decreased circulating free fatty acid level, Increased circ... ORPHA:79644
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul... ORPHA:263455
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Renal steatosis OMIM:261650
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hyperammonemia ORPHA:664
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Hypoglycemia, Proteinuria, Large for gestatio... OMIM:616026
Congenital Analbuminemia
Miscarriage, Premature birth, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha... ORPHA:86816
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:620357
Microtriplication 11Q24.1
Hyperlipidemia, Obesity, Bruxism ORPHA:289522
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Fair hair OMIM:269920
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypoglycemia, Hypospadias, Hyperammonemia, Dysphagia, Intrauterine gro... OMIM:618253
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Elevated circul... OMIM:618838
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Hyperkalemi... OMIM:614736
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... OMIM:255120
Endocardial Fibroelastosis
Hypoplasia of penis, Hypoglycemia ORPHA:2022
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hypoglycemia, Death in childhood OMIM:246900
Temple Syndrome
Small for gestational age, Premature birth, Obesity, Recurrent hypoglycemia, Type II diabetes mel... ORPHA:254516
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... OMIM:231680
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hypoglycemia, Elevated circulating... ORPHA:42
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Fa... OMIM:210200
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Failure to thrive OMIM:614739
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Death in infancy, Hyperprolinemia, Agitation, Hyperalaninemia, Failure ... OMIM:619046
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus ORPHA:31825
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria, Elevated circulating creatine kinase concentration, Dysphagia OMIM:255100
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulati... OMIM:620300
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis, Hypoglycemia, Truncal obesity ORPHA:633
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Death in infancy, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Polyhydramnios,... OMIM:617156
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... ORPHA:3337
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Generalized aminoaciduria, Hypercalciuri... OMIM:227810
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Hypoglycemia, Elevated circulating creatine kinase concentration, Hy... OMIM:618120
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Hypoglycemia, Transient hyperlipidemia ORPHA:156
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Death in infancy, Ureteral duplication, Renal insufficiency, Hypoglycemi... OMIM:608836
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Aapoaiv Amyloidosis
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... ORPHA:439232
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy, Organic aciduria OMIM:617184
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Nephrocalcinosis, Blue ... ORPHA:94086
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Organic aciduria,... OMIM:210210
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Hsd10 Disease, Infantile Type
Restlessness, Hypoglycemia, Hyperammonemia, Dysphagia, Abnormal concentration of acylcarnitine in... ORPHA:391428
Propionic Acidemia
Hypoglycemia, Increased level of hippuric acid in urine, Hyperglycinuria, Hyperammonemia, Hypergl... OMIM:606054
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia ORPHA:2158
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse eyelashes, Sparse scalp hair, Hyperbilirubinemia OMIM:619075
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... OMIM:251000
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Premature birth, Microscopic hematuria, Minimal change glomerulonephri... ORPHA:1830
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Proximal renal tubular acidosis OMIM:266150
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... OMIM:616860
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Hypoglycemia, Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein... OMIM:617049
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... ORPHA:97279
Neutral Lipid Storage Disease With Myopathy
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
D-Glyceric Aciduria
Hypoglycemia, Tongue thrusting, Nonketotic hyperglycinemia, Aminoaciduria, Micropenis, Failure to... OMIM:220120
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Glycogen Storage Disease Ia
Hypoglycemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Xanthelasma, Focal segmental glomerul... OMIM:232200
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:26791
Beta-Ketothiolase Deficiency
Ketonuria, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral av... ORPHA:134
Temple Syndrome
Hypertriglyceridemia, Premature birth, Small for gestational age, Maturity-onset diabetes of the ... OMIM:616222
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia OMIM:615924
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Malonyl-Coa Decarboxylase Deficiency
Elevated urine suberic acid level, Hypoglycemia, Methylmalonic aciduria OMIM:248360
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:608612
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Hypoglycemia ORPHA:48431
19P13.12 Microdeletion Syndrome
Hyperactivity, Hypospadias, Hyperlipidemia, Obesity, Self-injurious behavior, Intrauterine growth... ORPHA:254346
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Fasting hypoglycemia, Impaired g... OMIM:261680
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Abnormality of the ... OMIM:614886
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Recurr... OMIM:212140
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Hypoglycemia, Conjugated hyperbilirubine... OMIM:617093
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Recurrent urinary tract infections, Ketotic h... ORPHA:361
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hyperalaninemia, Failure to thrive, Hyperglutamatemia, Increased serum pyruvate... ORPHA:3008
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An... ORPHA:95409
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Hypoglycemia, Hyperammonemia, Hyperglycemia, Failure to thrive OMIM:615453
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Hypertriglyceridemia, Transient Infantile
Failure to thrive, Hypertriglyceridemia OMIM:614480
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Miscarriage OMIM:613877
Glycogen Storage Disease Ixd
Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Death in infancy, Hyperglycinuria, Lacticacidu... OMIM:605711
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Increased... ORPHA:264580
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Abnormal renal morphology, Self hugging, Increased body weig... OMIM:182290
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia ORPHA:231137
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Abnormality of urine homeostasis ORPHA:1414
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Small for gestational age, Abnormality of the ureter, Congenital pos... OMIM:180860
Glutaric Acidemia I
Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid concentration, Fai... OMIM:231670
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Leigh Syndrome
Hypoglycemia, Generalized aminoaciduria, Lacticaciduria, Methylmalonic aciduria, Renal tubular dy... ORPHA:506
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Hyperammonemia OMIM:620137
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Hypoglycemia, Decreased body weight, Intrauterine g... ORPHA:391408
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Failure to thrive, Recurrent hypoglycemia OMIM:202200
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Urinary retention, Hy... ORPHA:2126
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, I... ORPHA:79240
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Hypoglycemia, Hyperglycinuria OMIM:201450
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... OMIM:617600
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Severe temper tantrums, Hypoglycemia, Aggressive behavior OMIM:617710
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Glutaric Acidemia Type 3
Ketonuria, Impulsivity, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circ... ORPHA:35706
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia OMIM:612526
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Hypospadias, Renal salt wasting OMIM:201910
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoglycemia, Umbilical hernia, Fetal distress, Intrauterine growth retardation OMIM:620275
Glycogen Storage Disease Ib
Hypoglycemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Xanthelasma, Focal segmental glomerul... OMIM:232220
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamm... OMIM:212138
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Death in infancy, Dicarboxylic aciduria, Elevated circulating creatine k... OMIM:201475
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Dicarboxylic aciduria, Hypoglycemia, Death in childhood OMIM:611126
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Anorexia, Hyperk... ORPHA:199299
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... OMIM:248600
Glycogen Storage Disease Ixb
Hypoglycemia, Hyperuricemia OMIM:261750
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Monocarboxylate Transporter 1 Deficiency
Ketonuria, Ketotic hypoglycemia OMIM:616095
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, N... ORPHA:348
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228305
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Cholera
Hyponatremia, Abnormality of renal excretion, Miscarriage, Premature birth, Hypoglycemia, Abnorma... ORPHA:173
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Intrauterine growth retardation, Recurrent hypoglycemia, Small for gestational age, Renal hypoplasia OMIM:616817
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating... ORPHA:480864
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An... ORPHA:85138
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Aplasia/Hypoplasia of the eyebrow ORPHA:293939
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysp... OMIM:616878
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration,... ORPHA:99901
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia ORPHA:280356
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylglutaconic aciduria, Death in childhood,... OMIM:604273
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Elevated cir... ORPHA:230
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, ... ORPHA:79259
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypoglycemia, Polyhydramnios, Hypospadias, Hypocalcemia, Micropenis, F... OMIM:607143
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Neonatal... ORPHA:199296
Smith-Kingsmore Syndrome
Umbilical hernia, Hypoglycemia, Large for gestational age OMIM:616638
Donohue Syndrome
Long penis, Hyperinsulinemia, Fasting hypoglycemia, Severe failure to thrive, Intrauterine growth... OMIM:246200
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Generalized aminoaciduria, Hy... OMIM:251880
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
Glycogen Storage Disease Xii
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia... OMIM:611881
Silver-Russell Syndrome 2
Intrauterine growth retardation, Neonatal hypoglycemia OMIM:618905
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Polyhydramnios, Large for gestational age, Large placenta, Umbilical h... ORPHA:254534
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Increased circulating chylomicron concen... ORPHA:444490
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Hyperuricemia ORPHA:35909
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level OMIM:608688
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia OMIM:613812
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Hypoglycemia, Renal insuffi... ORPHA:79282
Glycogen Storage Disease Ic
Renal insufficiency, Hypoglycemia, Proteinuria, Hyperlipidemia, Hematuria, Xanthelasma, Focal seg... OMIM:232240
Classic Galactosemia
Hypoglycemia, Attention deficit hyperactivity disorder ORPHA:79239
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia OMIM:613673
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty a... OMIM:610768
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia OMIM:615962
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria, Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Orthostatic Hypotension 2
Hypoglycemia, Decreased glomerular filtration rate OMIM:618182
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ... OMIM:229600
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Recu... OMIM:124000
Timothy Syndrome
Single umbilical artery, Hypoglycemia, Hypocalcemia OMIM:601005
Isolated Complex I Deficiency
Increased serum pyruvate, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, Intrauterine gro... ORPHA:2609
Silver-Russell Syndrome
Failure to thrive in infancy, Premature birth, Cachexia, Hypospadias, Insulin resistance, Obesity... ORPHA:813
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypoglycemia, Hypospadias, Hyperkalemia, Microp... OMIM:617053
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperactivity, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Neurogenic bladder, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:608779
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoplasia of penis, Failure to thrive, Hypoglycemia ORPHA:95496
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Polyphagia ORPHA:66628
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalaninemia, Failure to thrive OMIM:618329
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Polyphagia ORPHA:179494
Acth Deficiency, Isolated
Decreased circulating cortisol level, Fasting hypoglycemia OMIM:201400
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Shashi-Pena Syndrome
Mild fetal ventriculomegaly, Hypoglycemia, Unilateral renal agenesis, Intrauterine growth retarda... OMIM:617190
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hypoglycemia OMIM:616355
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm... OMIM:603471
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Premature birth, Abnormality of prenatal deve... ORPHA:168558
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Renal s... ORPHA:90791
Trichohepatoenteric Syndrome 1
Small for gestational age, Hypospadias, Polyhydramnios, Large placenta, Abnormalities of placenta... OMIM:222470
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Premature birth, Abnormality of prenatal deve... ORPHA:289548
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia OMIM:616483
Smith-Magenis Syndrome
Decreased fetal movement, Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/ap... ORPHA:819
Holocarboxylase Synthetase Deficiency
Anorexia, Hyperammonemia, Weight loss, Organic aciduria, Desquamation of skin soon after birth ORPHA:79242
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoketotic hypoglycemia OMIM:600649
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Polyhydramnios, Nephrocalcinosis, Intrauterine growth retardation, Failure to thrive OMIM:618005
Dilated Cardiomyopathy With Ataxia
Elevated circulating glutaric acid concentration, Hypoplasia of penis, Repetitive compulsive beha... ORPHA:66634
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Ketonuria, Anorexia, Hyperammonemia, Weight loss, Recurrent hypoglycemia... ORPHA:20
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia... ORPHA:14
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia ORPHA:199276
Glycerol Kinase Deficiency
Increased urinary glycerol, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, H... OMIM:307030
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Neu-Laxova Syndrome 1
Decreased fetal movement, Renal agenesis, Spina bifida, Polyhydramnios, Fetal akinesia sequence, ... OMIM:256520
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypercholesterolem... ORPHA:528
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Shigellosis
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Anorexia, Hemolytic-uremic syndrome, Ur... ORPHA:810
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Hypospadias, Neonatal hypoglycemia, Large for gestational age ORPHA:457485
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hypoglycemia, Hypospadias, Aggressive behavior, Methylmalonic aciduria, 3... ORPHA:17
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Premature birth, Failure to thrive in infancy, Hypoglycemia, Failure to thr... OMIM:619418
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Premature birth, Conjugated hyperbilirubinemia, Abnormal circulating f... ORPHA:567983
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Obesity, Self-injurious behavior... ORPHA:293987
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Leprechaunism
Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Nephrocalcinosis, Hypokalemia, ... ORPHA:508
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Sotos Syndrome
Decreased fetal movement, Abnormality of the kidney, Aggressive behavior, Increased body weight, ... OMIM:117550
Aromatase Deficiency
Eunuchoid habitus, Hyperlipidemia, Insulin resistance, Obesity, Type II diabetes mellitus ORPHA:91
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive ORPHA:90790
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance ORPHA:90154
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Dysphagia, Neonatal dea... OMIM:617248
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Hyperlipidemia, Hematuria, Nephrotic ... ORPHA:324
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Hypospadias, Insulin resistance, Horseshoe kidney, Severe intrauterine... ORPHA:96182
Pancreatic And Cerebellar Agenesis
Death in infancy, Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyperg... OMIM:609069
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal repetitive mannerisms, Hypoglycemia, Abnormal temper tantrums, Aggressive behavior ORPHA:457279
Alg12-Cdg
Hyponatremia, Premature birth, Hypospadias, Polyhydramnios, Recurrent hypoglycemia, Hypoalbuminem... ORPHA:79324
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Abnormal circulating carnitine concentration, Renal tubular acidosis, Organic ... ORPHA:431361
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity, Hyposthenuria ORPHA:91355
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Hypoglycemia OMIM:229700
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Beckwith-Wiedemann Syndrome
Ureteral duplication, Premature birth, Hypoglycemia, Polyhydramnios, Large for gestational age, E... ORPHA:116
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Death in infancy, Hypoglycemia, Hypospadias, Lacticaciduria, Hype... OMIM:252010
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Hypoplastic nipp... OMIM:614866
Restrictive Dermopathy
Decreased fetal movement, Ureteral duplication, Premature birth, Premature delivery because of ce... ORPHA:1662
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Tenorio Syndrome
Enuresis, Hypoglycemia, Hypoinsulinemia OMIM:616260
Mosaic Trisomy 16
Small for gestational age, Premature birth, Maternal diabetes, Hypospadias, Large placenta, Horse... ORPHA:1708
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Neonatal hyperbilirubinemia, Abnormal hair whorl, Synophrys, Low posterior... ORPHA:163956
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Oligohydramnios OMIM:619013
3-Methylglutaconic Aciduria, Type Viib
Decreased fetal movement, Polyhydramnios, 3-Methylglutaconic aciduria, Intrauterine growth retard... OMIM:616271
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia ORPHA:90153
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia ORPHA:453533
Deeah Syndrome
Death in infancy, Polyhydramnios, Dysphagia, Death in adolescence, Death in childhood, Intrauteri... OMIM:619004
Lathosterolosis
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... OMIM:607330
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Neonatal hypoglyc... ORPHA:445038
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Renal steatosis... ORPHA:412
Cholesteryl Ester Storage Disease
Death in infancy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL ch... OMIM:278000
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Insulin-resis... OMIM:203800
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Fetal distress, Neonatal hypoglycemia, Obesity OMIM:608624
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Insulin-resistant diabetes mellitus, ... ORPHA:79083
Holoprosencephaly
Encephalocele, Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Failure to thrive in infancy... ORPHA:2162
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease, Fasting hypoglycemia, Dysphagia ORPHA:25
Caroli Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:480520
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c OMIM:616113
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Akt2-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia ORPHA:79085
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Umbilical hernia, Hydronephrosis, Intrauterine growth retardation ORPHA:254528
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level, Hypoglycemia ORPHA:95613
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Small for gestational age, Hypoglycemia, Hypoalbuminemia, Hyp... OMIM:613658
Orthostatic Hypotension 1
Hypomagnesemia, Nocturia, Neonatal hypoglycemia, Increased blood urea nitrogen OMIM:223360
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Diabetes mellitus, Insulin resistance, Hypertriglyceridemia OMIM:615381
Cerebral Visual Impairment
Neonatal hypoglycemia, Premature birth, Attention deficit hyperactivity disorder ORPHA:447788
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Thickened nuchal skin fold, Death in infancy, Ketonuria, Small for gestational age, Hypoglycemia,... OMIM:220111
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Glomerulopathy ORPHA:2348
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Umbilical hernia, Small for gestational age, Hypoglycemia OMIM:614501
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Aggressive behavior, Obesity, Umbilical hernia, Abnormal repetitive mannerisms OMIM:301066
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Neonatal hypoglycemia, Dysphagia, Aggressive behavior ORPHA:572798
Cranioectodermal Dysplasia 2
Sparse hair, Hyperbilirubinemia, Sparse eyelashes, Sparse eyebrow OMIM:613610
Ogden Syndrome
Sparse eyebrow, Long eyelashes, Hyperbilirubinemia, Fine hair OMIM:300855
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin resistance, Hyp... OMIM:613327
Caroli Disease
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration ORPHA:53035
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... OMIM:619488
Kabuki Syndrome 2
Intrauterine growth retardation, Horseshoe kidney, Neonatal hypoglycemia, Decreased body weight OMIM:300867
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Seckel Syndrome 10
Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glucose tolerance, Ins... OMIM:617253
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Kagami-Ogata Syndrome
Premature birth, Polyhydramnios, Large for gestational age, Large placenta, Dysphagia ORPHA:254519
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:614921
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad eyebrow, Synophrys, Hyperbilirubinemia, Thick eyebrow OMIM:619475
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia OMIM:557000
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration, Renal arte... ORPHA:565612
Lipe-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Elevated circulati... ORPHA:435660
Perlman Syndrome
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Polyhydramnios, Large for gestational age, Nephr... OMIM:267000
Oculodentodigital Dysplasia
Umbilical hernia, Neurogenic bladder, Hypoglycemia ORPHA:2710
Chylomicron Retention Disease
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:565624
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-resistant diabetes mellitus, Hyper... ORPHA:79086
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Neonatal hypoglycemia, Abnormality of prenatal development or birth ORPHA:35173
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Liver Disease, Severe Congenital
Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Increased circulati... OMIM:619991
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Micropenis, Hypoglycemia OMIM:620224
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Hypokalemia, Hypoglycemia ORPHA:786
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia, Hypoketotic hypoglycemia ORPHA:746
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Miscarriage, Renal salt wasting, Long penis, ... ORPHA:90794
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Obesity, Elevated circulating crea... ORPHA:98855
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Breech presentation, Hypoglycemia OMIM:616007
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures OMIM:262600
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Death in infancy, Hypertriglyceridemia, Polyuria, Polyhydramnios, Hypoalbuminemia, ... OMIM:618183
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia OMIM:613471
Hereditary Fructose Intolerance
Renal insufficiency, Reactive hypoglycemia, Chronic kidney disease, Hypermagnesemia, Hyperuricemi... ORPHA:469
Neurooculorenal Syndrome
Hypoplasia of the bladder, Decreased circulating cortisol level, Unilateral renal agenesis, Conju... OMIM:620305
Marburg Hemorrhagic Fever
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... ORPHA:99826
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Nephrocalcinosis, Hypernatriuria, H... ORPHA:90041
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypoglycemia, Hypercalcemia OMIM:131100
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Ketonuria, Lacticaciduria OMIM:619167
Congenital Erythropoietic Porphyria
Scarring alopecia of scalp, Abnormal circulating porphyrin concentration, Loss of eyelashes, Incr... ORPHA:79277
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Recurrent hypoglycemia, Failure... ORPHA:293978
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Sparse eyebrow, Nail dystrophy, Hypoplastic nipples, Unconjugated hyperbilirubinem... OMIM:620186
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Ureteral duplication, Premature ... OMIM:275210
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Hyperkalemia, Abnormal urine po... ORPHA:275761
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperbilirubinemia, Sparse hair OMIM:210710
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Cachexia ORPHA:109
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Death in infancy, Hypoplasia of penis, Hypoglycemia, Multicystic kidney dys... ORPHA:373
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent hypoglycemia, Failure to thrive, Hypoglycemia OMIM:256810
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Fetal polyuria, Renal agenesis, Sirenomelia, Oligohydramnios ORPHA:1848
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:435651
Meckel Syndrome, Type 1
Occipital encephalocele, Hypoplasia of the bladder, Renal agenesis, Breech presentation, Large pl... OMIM:249000
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Pearson Syndrome
Renal insufficiency, Diabetes mellitus, Small for gestational age, Proteinuria, Hypomagnesemia, H... ORPHA:699
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Hypoglycemia, Hypo... OMIM:201750
Menkes Disease
Umbilical hernia, Bladder diverticulum, Hypoglycemia, Intrauterine growth retardation ORPHA:565
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... ORPHA:77293
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Abnormal ren... ORPHA:540
Woodhouse-Sakati Syndrome
Hyperlipidemia, Diabetes mellitus, Micropenis OMIM:241080
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Woodhouse-Sakati Syndrome
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Micropenis ORPHA:3464
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Umbilical hernia, Abnormal circulating thyroglobulin level, Hypoglycemia ORPHA:226307
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia, Nonimmune hydrops fetalis OMIM:619313
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Nephrolithiasis, Insulin-resistant dia... OMIM:608594
Histiocytoid Cardiomyopathy
Failure to thrive, Hypoglycemia, Renal cyst ORPHA:137675
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Hyperinsulinemia, Nephrolithiasis, Insulin-resista... OMIM:269700
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Obesity, Renal cyst, Hypercalciuria, Nephrocalcinosis, Conge... ORPHA:369837
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia OMIM:233600
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Impaired glucose tolerance, Polyuria, Insulin re... OMIM:606721
Costello Syndrome
Renal insufficiency, Premature birth, Hypoglycemia, Polyhydramnios, Failure to thrive OMIM:218040
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Premature birth, Polyhydramnios, Large for gestational age, Large placenta, Spinal d... ORPHA:96334
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Thick eyebrow OMIM:300896
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration ORPHA:98907
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Enlarged kidney, Nephrocalcinosis, Placental mesenchymal d... OMIM:130650
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias OMIM:610644
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Acute Liver Failure
Acute kidney injury, Agitation, Hyperammonemia, Hypoglycemia ORPHA:90062
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hypertriglyceridemia OMIM:617591
Alagille Syndrome 1
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h... OMIM:118450
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Slender build, Neonatal hypoglycemia, Large for gestational age ORPHA:457359
Glycogen Storage Disease Of Heart, Lethal Congenital
Breech presentation, Enlarged kidney, Neonatal hypoglycemia OMIM:261740
Atypical Werner Syndrome
Renal neoplasm, Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fas... ORPHA:79474
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr... OMIM:619573
Alström Syndrome
Recurrent urinary tract infections, Hypertriglyceridemia, Detrusor sphincter dyssynergia, Recurre... ORPHA:64
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Glucose intolerance, Focal segmental ... OMIM:619127
Neutral Lipid Storage Myopathy
Diabetes mellitus, Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration ORPHA:98908
Johanson-Blizzard Syndrome
Sparse scalp hair, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Front... OMIM:243800
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
3-Methylglutaconic aciduria, Failure to thrive, Ethylmalonic aciduria, Aciduria OMIM:203700
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... ORPHA:821
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... ORPHA:391665
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tolerance, Elevat... OMIM:256040
Lmna-Related Cardiocutaneous Progeria Syndrome
Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Holoprosencephaly 1
Micropenis, Hypoglycemia OMIM:236100
Non-Acquired Panhypopituitarism
Hypoglycemia ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypoglycemia ORPHA:95494
Fazio-Londe Disease
Dysphagia OMIM:211500
Brown-Vialetto-Van Laere Syndrome 1
Death in childhood, Dysphagia OMIM:211530

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc52a3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc52a3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice. Scientific reports (June 2016) Slc52a3tm2a(KOMP)Wtsi PMC4897618
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. Human molecular genetics (March 2016) Slc52a3tm2a(KOMP)Wtsi PMC4986335

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slc52a3tm41391(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc52a3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc52a3tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc52a3tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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