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Gene: Acads MGI:87868

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
acyl-Coenzyme A dehydrogenase, short chain
Synonyms:
Hdlq8,  SCAD,  Bcd1,  Bcd-1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Acads 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 Acads by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Myopathy, Ethylmalonic ac... ORPHA:26792
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Weakness of facial musculature, Flexion contracture, Myopathy, Ethylmalonic aciduria OMIM:201470

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... OMIM:619386
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog... OMIM:300559
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis OMIM:261650
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Myopathy, Ethylmalonic ac... ORPHA:26792
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia, Hypoglycemia ORPHA:366
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria OMIM:606528
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Myopath... OMIM:255100
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:610717
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate amino... OMIM:619048
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hypoglycemia... ORPHA:369
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Hematuria, Nephrotic sy... OMIM:608709
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Distal amyotrophy, Hepatic steatosis, Mildly elevated creatine kin... OMIM:618400
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure ORPHA:664
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal... ORPHA:446
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... OMIM:239500
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Insulin resistance, Myopathy, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... OMIM:620211
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hypoglycemia, Hyperammonemia ORPHA:35
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolera... ORPHA:2088
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated c... OMIM:617950
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Iminoglycinuria
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria ORPHA:42062
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... OMIM:255120
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Elevated circulati... OMIM:261680
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Proximal muscle weakness in lower limbs, Fasting hypoglycem... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly... OMIM:222100
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Hepatic steatosis, Diabetes mellitus, Elevated circulating creatine kina... OMIM:615980
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... ORPHA:209919
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia OMIM:614741
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia ORPHA:6
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... ORPHA:488650
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Decreased circulating cerul... OMIM:616828
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid... ORPHA:276556
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosp... OMIM:612526
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... OMIM:201450
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Rotor Syndrome
Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Porphyrinuria, Intermittent jaundice, Hyp... ORPHA:3111
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid leve... ORPHA:276575
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia OMIM:620357
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemi... ORPHA:276580
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Hepatomegaly, Dicarboxylic acidu... ORPHA:42
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Ketotic hypoglycemia, De... ORPHA:79159
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr... ORPHA:293964
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Polyphagia OMIM:620195
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp... ORPHA:2089
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
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
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, H... OMIM:616026
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia, Nephrolithiasis, Cystinuria ORPHA:163693
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Calf muscle hypertrophy, Insulin-resistant diabetes melli... ORPHA:280356
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Myoglo... OMIM:231530
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidur... ORPHA:289504
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Skeletal muscle hy... OMIM:613877
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... OMIM:603358
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated... OMIM:212140
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger ORPHA:1325
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Renal tubular... ORPHA:156
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent... ORPHA:263455
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu... OMIM:619355
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia OMIM:615026
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Facial palsy, Ragged-red muscle fibers, Nephrolithiasis, Cystinuria, Hypoca... OMIM:606407
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Hepatomegaly, Dicarboxylic aciduria, El... OMIM:201475
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Generalized amyotrophy, 2-ethylhydracylic aciduria OMIM:610006
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Hypoglyce... ORPHA:26791
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... OMIM:605814
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl... OMIM:210200
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Hypoargininemia, Hyperglutaminem... OMIM:615751
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Myopathy... ORPHA:363400
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperam... OMIM:246450
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... OMIM:231680
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol i... ORPHA:79237
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Agitation, Pancreatic islet-cell hyperplasia, Fasting hy... ORPHA:276608
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De... OMIM:616299
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Myopathy, Amino... ORPHA:213
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhab... OMIM:618120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Increased muscle lipid ... OMIM:608836
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul... OMIM:212138
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Hypoglycemia, Decreased liver function ORPHA:67048
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... OMIM:264470
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Multiple pancreatic beta-cell adenomas, Decreased circulating free fatty acid level, I... ORPHA:79644
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypertriglyceridemia, Hypog... ORPHA:264580
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... OMIM:251880
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated hepatic transaminase, E... ORPHA:2394
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:245400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypertriglyceridemia, Eleva... ORPHA:79240
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia ORPHA:2158
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Brown-Vialetto-Van Laere Syndrome 2
Facial palsy, Aggressive behavior, Organic aciduria, Generalized amyotrophy, Dysphagia, Limb musc... OMIM:614707
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co... OMIM:617156
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... OMIM:613070
Hsd10 Mitochondrial Disease
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior... OMIM:300438
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Elevated circulating aspar... OMIM:227810
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani... OMIM:266150
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi... OMIM:278000
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Diabetes mellitus, Maternal di... ORPHA:79083
Mehmo Syndrome
Micropenis, Hypoglycemia, Aggressive behavior OMIM:300148
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Hydroxykynureninuria
Aminoaciduria, Jaundice OMIM:236800
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Elevated c... OMIM:615160
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic acidu... ORPHA:99901
Tiglic Acidemia
Aminoaciduria OMIM:275190
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Hypoglycemia, Hy... OMIM:232200
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron... ORPHA:199343
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Conjugated hyperbi... ORPHA:79303
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice ORPHA:79238
Dent Disease 2
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:300555
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Abnormality ... ORPHA:2348
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li... OMIM:246900
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Patent Ductus Venosus
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function OMIM:601466
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperamm... OMIM:210210
Pyruvate Dehydrogenase Phosphatase Deficiency
Hyperalaninemia, Lacticaciduria, Hyperprolinemia ORPHA:79246
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... ORPHA:53693
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Monocarboxylate Transporter 1 Deficiency
Ketonuria, Ketotic hypoglycemia OMIM:616095
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Skel... ORPHA:528
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Acute pancreatiti... ORPHA:79086
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin... ORPHA:552
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Glutamate-Cysteine Ligase Deficiency
Myopathy, Aminoaciduria, Jaundice, Hepatosplenomegaly ORPHA:33574
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Dysphagia OMIM:618958
Endocardial Fibroelastosis
Hypoplasia of penis, Hypoglycemia ORPHA:2022
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Increased proinsulin:insulin ratio, Nephrocalcinosi... ORPHA:94086
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Muscular dystrophy OMIM:204730
Lipe-Related Familial Partial Lipodystrophy
Proximal muscle weakness in upper limbs, Hepatomegaly, Hypertriglyceridemia, Elevated circulating... ORPHA:435660
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell... OMIM:617575
Galactosemia I
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:230400
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Hypertriglyceridemia, Foam... ORPHA:567548
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Propionic Acidemia
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Hyperglycinuria, Hyperammo... OMIM:606054
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test OMIM:229100
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunctio... ORPHA:436271
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... OMIM:277900
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ... ORPHA:3337
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic ketoaci... OMIM:262190
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylgluta... OMIM:604273
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Skeletal muscle hypertro... ORPHA:435651
Phenylketonuria
Aminoaciduria ORPHA:716
Mitochondrial Complex I Deficiency, Nuclear Type 26
Limb hypertonia, Distal amyotrophy, Lacticaciduria, Dysphagia OMIM:618247
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia, Limb hypertonia OMIM:615918
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn... ORPHA:159
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, General... ORPHA:52430
Primary Hyperoxaluria
Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ... ORPHA:416
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... ORPHA:905
Glutaric Acidemia Type 3
Ketonuria, Impulsivity, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circ... ORPHA:35706
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A... ORPHA:412
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Insulin res... OMIM:615381
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglyc... OMIM:229600
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Hawkinsinuria
Hypertyrosinemia, Restlessness, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, ... OMIM:140350
Autism, Susceptibility To, 3
Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Increased hepatocellular ... ORPHA:71
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:613327
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Lacticaciduria, Distal amyotrophy, Weakness of facial musculature, Foot dors... OMIM:618811
Malonyl-Coa Decarboxylase Deficiency
Elevated urine suberic acid level, Hypoglycemia, Methylmalonic aciduria OMIM:248360
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... OMIM:611126
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Hyperurice... ORPHA:348
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Hypercalciuri... OMIM:239200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi... OMIM:251000
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Anorexia, Hyperammonemia, Agitation, Hyperuricemia, Oral a... ORPHA:134
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Hepatosplenomegaly, H... OMIM:619013
Hsd10 Disease, Infantile Type
Restlessness, Hypoglycemia, Hyperammonemia, Dysphagia, Abnormal concentration of acylcarnitine in... ORPHA:391428
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Diaphragmatic eventration, Repetitive compuls... ORPHA:66634
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Distal amyotrophy, Distal lower limb muscle weakness, Hypoalbuminemia ORPHA:94124
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... OMIM:613404
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Diastasis recti, Neonatal hypoglycemia ORPHA:231140
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati... OMIM:610198
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide... OMIM:615238
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc... ORPHA:480864
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... OMIM:617093
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc... OMIM:616878
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragmatic hernia, Abn... ORPHA:2260
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Myopathy, Abnormal circulating creatine kinase conce... ORPHA:369840
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hepa... ORPHA:79085
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Hepatic steatosis, Renal hypoplasia OMIM:615996
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Hy... OMIM:615453
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Hyperkalemia OMIM:614736
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Very long c... ORPHA:98908
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Abnormal renal morphology, Self hugging, Head-banging, Abnor... OMIM:182290
Tyrosinemia, Type I
Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Hypoglycemia, Elevate... OMIM:276700
Pyridoxine-Dependent Epilepsy
Restlessness, Hypoglycemia ORPHA:3006
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Hypoglycemia, Renal salt wasting OMIM:201910
D-Glyceric Aciduria
Hypoglycemia, Tongue thrusting, Nonketotic hyperglycinemia, Aminoaciduria, Micropenis OMIM:220120
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Abnormal... ORPHA:320
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Diami... OMIM:207800
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Proteinuria, Hypouricemia, Chronic kidney disease, Elevated ci... ORPHA:411634
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis, Hypoglycemia ORPHA:633
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:609015
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Recurrent urinary tract infections, Renal insufficie... OMIM:619487
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired gl... OMIM:617253
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hyperalaninemia, 3-Methylglutaconic aciduria, Hypoglycemia, Hyperammonemia OMIM:614739
Mitochondrial Complex I Deficiency, Nuclear Type 35
Hyperalaninemia, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia OMIM:619003
Macrocephaly-Intellectual Disability-Autism Syndrome
Attention deficit hyperactivity disorder, Hepatic steatosis, Penile freckling ORPHA:210548
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... OMIM:151660
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Hypoglycemia, Elevated circulating branched chain amin... OMIM:248600
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobinuria, Elevated ci... OMIM:620300
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Skeletal muscle atrophy, Hepatomegaly, Elevated hepatic transaminase, Hyp... ORPHA:17
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function, Dysphagia ORPHA:70472
Central Diabetes Insipidus
Hyponatremia, Polydipsia, Nocturia, Anorexia ORPHA:178029
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Elevated circulating... OMIM:614300
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hyperglycinemia, Lacticaciduria OMIM:619063
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia OMIM:607250
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased muscle mass, Ragged-red muscle fibers, Abnormality of th... ORPHA:298
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Pancreatic fibrosis, Sple... OMIM:232220
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Generalized a... OMIM:617710
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Hypoglycemia, Acute rhabdomyolysis ORPHA:48431
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:614921
Glutaric Acidemia I
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid conc... OMIM:231670
Tyrosinemia, Type Iii
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Elevated hepat... OMIM:276710
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic choles... ORPHA:69663
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617049
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Hypoglycemia, Lacticaciduria, Generalized a... ORPHA:506
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria OMIM:618857
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis, Hyperammonemia OMIM:620137
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Hepatic steatosis, Pancre... OMIM:236200
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... ORPHA:199296
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Nephrotic range proteinuria ORPHA:300536
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Anorex... ORPHA:3008
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Splenomegaly, Hyperprolinemia, Agitation, Hyperalaninemia, Neonatal hyp... OMIM:619046
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Jaundice, Fasting hypoglycemia OMIM:201400
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Abnormal circulating cholesterol concentration, A... ORPHA:399
Orthostatic Hypotension 2
Hypoglycemia, Decreased glomerular filtration rate OMIM:618182
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... OMIM:618805
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... ORPHA:79096
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating reni... OMIM:613677
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... OMIM:203800
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Myopathy... OMIM:614922
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia OMIM:616483
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Hypoglycemia, Hyperammonemia, Dysphagia OMIM:618253
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia, Hyperglycemia OMIM:615986
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... ORPHA:230
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Attention deficit hyperactiv... ORPHA:79239
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Diabetes me... OMIM:608594
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciu... OMIM:612780
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Elevated circulating ... OMIM:256810
Cystinosis, Nephropathic
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-mo... OMIM:219800
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Adrenomyodystrophy
Myopathy, Abnormality of the urinary system, Megacystis, Hepatic steatosis ORPHA:977
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrov... OMIM:618329
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Neoplasm of the liver, Rec... ORPHA:2126
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco... ORPHA:445038
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Ketonuria, Acute pancreatit... ORPHA:20
Temple Syndrome
Recurrent hypoglycemia, Polyphagia, Type II diabetes mellitus ORPHA:254516
19P13.12 Microdeletion Syndrome
Hyperactivity, Hypospadias, Hyperlipidemia, Self-injurious behavior, Arthrogryposis multiplex con... ORPHA:254346
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Elevated circ... OMIM:605711
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Hypokalemia, Dexamethasone... ORPHA:251274
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Donohue Syndrome
Skeletal muscle atrophy, Long penis, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic ... OMIM:246200
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Acute pancr... OMIM:269700
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Chronic pancreatitis, Hyperlipidemi... OMIM:232240
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Proteinuria, Abnormal circulating fatty-acid concentrat... ORPHA:2298
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... OMIM:619418
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Hyperlipidemia, Stage 5 chronic ki... ORPHA:79259
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Myopat... ORPHA:98907
Congenital Macroglossia
Macroglossia, Abnormal hepatic glycogen storage ORPHA:2430
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepa... ORPHA:541423
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu... ORPHA:223
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Hyp... ORPHA:263501
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Recurrent urinary tract infections, Ketotic h... ORPHA:361
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Increased urinary glycerol, Hypoglycemia OMIM:229700
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypoglycemia, Insulin resistance, Attention deficit hyperactivity disorder, Neonat... ORPHA:73272
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Salt craving, Hypercalce... ORPHA:95409
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus ORPHA:31825
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Fast... OMIM:180860
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Aica-Ribosuria Due To Atic Deficiency
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia, Hypoglycemia OMIM:608688
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic aciduria, Hyper... OMIM:251120
Shigellosis
Hyponatremia, Hypoglycemia, Anorexia, Hemolytic-uremic syndrome, Peritonitis, Urethritis, Rhabdom... ORPHA:810
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Hypophosphatemia, Re... OMIM:613388
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
Pearson Syndrome
Renal cyst, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Hypokalemia,... ORPHA:699
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia,... OMIM:619055
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... OMIM:617600
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, P... ORPHA:280365
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Proteinuria, Flexion contracture,... OMIM:212065
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Hypoglycemia, Hyperbilirubinemia, Aggressive behavior OMIM:619075
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Limb-girdle muscle w... OMIM:251900
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Holocarboxylase Synthetase Deficiency
Organic aciduria, Hyperammonemia, Anorexia ORPHA:79242
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Cholestasis, Skeletal myopathy, Hypocalcemia, Left ventricular hypertrophy, Diffu... ORPHA:746
Chanarin-Dorfman Syndrome
Myopathy, Hepatic steatosis, Hepatomegaly OMIM:275630
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypoglycemia, Hyperammonemia OMIM:614702
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Organic aciduria, Pica, Aggressive behavior OMIM:620191
Argininosuccinic Aciduria
Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia ORPHA:23
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Rhabdomyolysis, Enuresis, Hypokalemia, Hypocalci... OMIM:263800
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Neurogenic bladder, Hepatomegaly, Hypoglycemia, Elevated circulating cre... OMIM:608779
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Elevated circulating creatine kinase con... OMIM:619743
Cog8-Cdg
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia ORPHA:95428
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosple... ORPHA:444490
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, Maturity-onset diabetes of the y... OMIM:616222
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, ... ORPHA:231580
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia, Addictive alcohol use ORPHA:90065
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Glycerol Kinase Deficiency
Increased urinary glycerol, Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancre... OMIM:307030
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis, 3-Methylglutaconic aciduria, Flexion contracture, Neonatal hypoglycemia OMIM:616271
Houge-Janssens Syndrome 1
Congenital muscular torticollis, Facial hypotonia, Hypoglycemia OMIM:616355
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Microphallus, Attention deficit hyperactivity disorder, Hypoglycemia ORPHA:397590
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal circulating carnitine concentration, Renal tubular acidosis, Organic aciduria, Decreased... ORPHA:431361
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Anorexia, Hyperk... ORPHA:199299
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Nephrotic syndrome, Focal segmental... OMIM:617303
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok... OMIM:619377
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Marchiafava-Bignami Disease
Facial palsy, Urinary incontinence, Aggressive behavior, Addictive alcohol use, Limb hypertonia ORPHA:221074
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Long penis, Fasting hyperinsulinemia, Insulin-res... ORPHA:769
Smith-Magenis Syndrome
Hypertriglyceridemia, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal localization ... ORPHA:819
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia, Elevated circulating creatine kinase co... OMIM:208920
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An... ORPHA:85138
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Hepatomegaly, Hypospadias, Hypoglycemia,... OMIM:252010
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Hypospadias, Diastasis recti, Neonatal hypoglycemia ORPHA:457485
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia OMIM:615962
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Anorexia, Hypercalciuria, Macro... OMIM:557000
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Hypoglycemia, Aggressive behavior, Contracture of the proximal i... ORPHA:457279
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Hepatomegaly, Elevated circulatin... ORPHA:26793
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hepato... ORPHA:14
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Orthostatic Hypotension 1
Nocturia, Increased blood urea nitrogen, Hypomagnesemia, Weakness of facial musculature, Neonatal... OMIM:223360
Brain-Lung-Thyroid Syndrome
Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com... ORPHA:209905
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus, Renovascular hypertension ORPHA:401923
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ketonuria, Lacticaciduria, Left ventricular noncompaction, Left ventricular hypertr... OMIM:619167
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, Ab... ORPHA:2609
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia, Megacystis, Polyuria OMIM:125800
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia, Megacystis, Polyuria OMIM:304800
Tenorio Syndrome
Macroglossia, Enuresis, Hypoglycemia, Hypoinsulinemia OMIM:616260
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Proximal muscle weakness in lower limbs, Hypoglycemia, Hypoinsulinemia ORPHA:453533
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia ORPHA:391408
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypospadias... ORPHA:2959
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contracture, Steatorrhea, H... OMIM:616263
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Jaundice, Chronic kidney disease, Hyper... ORPHA:469
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Limb joint contracture, Nodular re... ORPHA:404454
Tyrosinemia, Type Ii
Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria OMIM:276600
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Cholera
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp... ORPHA:173
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hypogl... ORPHA:79282
Smith-Kingsmore Syndrome
Hypoglycemia, Diastasis recti OMIM:616638
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly... OMIM:617671
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Richards-Rundle Syndrome
Distal amyotrophy, Ketonuria ORPHA:1399
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac... OMIM:261515
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Alpha-aminoadipic aciduria, 3-Methylglutaconic aciduria, Elevated urine acetoacetic acid level, S... OMIM:620089
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia ORPHA:77296
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Nemaline bodies, Hypoglycemia, Elbow contracture OMIM:620275
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Shashi-Pena Syndrome
Hypoglycemia, Unilateral renal agenesis, Limb hypertonia OMIM:617190
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia, Renal hypoplasia OMIM:616817
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Hyperlipidemia, Flexion contracture, Elbow ... OMIM:248370
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease, Fasting hypoglycemia, Dysphagia ORPHA:25
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism ORPHA:403
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria ORPHA:30
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic... OMIM:614946
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:202200
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hy... OMIM:251100
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Hypokalemia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldoste... ORPHA:369929
Liver Disease, Severe Congenital
Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic... OMIM:619991
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial n... ORPHA:57777
Monosomy 13Q34
Insulin resistance, Fetal pyelectasis, Hepatic steatosis, Hypercalcemia ORPHA:96168
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypoglycemia, Hyperkalemia, Microp... OMIM:617053
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... OMIM:207900
Leprechaunism
Skeletal muscle atrophy, Hepatomegaly, Insulin resistance, Long penis, Hyperinsulinemia, Hypercal... ORPHA:508
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis OMIM:615994
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... OMIM:241200
Sotos Syndrome
Abnormality of the kidney, Aggressive behavior, Glucose intolerance, Attention deficit hyperactiv... OMIM:117550
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, H... OMIM:253270
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal sal... ORPHA:90791
Whipple Disease
Hyponatremia, Hepatomegaly, Myositis, Anorexia, Splenomegaly, Insulin resistance, Polydipsia ORPHA:3452
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Congenital Disorder Of Glycosylation, Type Ig
Micropenis, Hypospadias, Hypocalcemia, Hypoglycemia OMIM:607143
Acute Lung Injury
Acute pancreatitis, Increased circulating surfactant protein level, Addictive alcohol use, Elevat... ORPHA:178320
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... OMIM:203700
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Renal hypoplasia OMIM:619053
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... ORPHA:99885
Familial Cold Urticaria
Polydipsia ORPHA:47045
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Leiomyosarcoma, Hepatoblastoma, Vesicouret... ORPHA:116
Amish Lethal Microcephaly
Hepatomegaly, Organic aciduria, Limb hypertonia ORPHA:99742
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia, Camptodactyly OMIM:301032
Perlman Syndrome
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Hypoplasia of t... OMIM:267000
Wolfram Syndrome
Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Abnormal mesentery morphology, My... ORPHA:3463
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hypergly... OMIM:251110
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Splenomegaly, Jaundice, Polydipsia, P... ORPHA:525731
Wars2-Related Combined Oxidative Phosphorylation Defect
Aggressive behavior, Generalized amyotrophy, Dysphagia, Neonatal hypoglycemia, Limb hypertonia ORPHA:572798
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyperglycinemia, Dysph... OMIM:620358
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Hypoglycemia, Elevated circulating creatine k... ORPHA:99826
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Nephrocalcinosis, Hypernatriuria, Hyperpro... ORPHA:90041
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Hypospadias, Insulin resistance, Horseshoe kidney, Fasting hypoglycemia, O... ORPHA:96182
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Multiple glomerular cysts, Low plasma citrulline, Ragged-red muscle fibers, Lactica... ORPHA:255210
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Silver-Russell Syndrome
Decreased muscle mass, Hypospadias, Insulin resistance, Recurrent hypoglycemia, Abnormality of th... ORPHA:813
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Polydipsia, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephr... ORPHA:99880
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia OMIM:613986
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Hypoglycemia, Portal hypertens... OMIM:613658
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Aggressive behavior, Hepatosplenomegaly, Cholecystitis, Cholelithiasi... OMIM:301066
Isolated Osteopoikilosis
Addictive alcohol use, Abnormality of the kidney ORPHA:166119
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c OMIM:616113
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia ORPHA:90790
Citrullinemia, Classic
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... OMIM:215700
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentratio... OMIM:222700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hep... OMIM:220111
Parathyroid Carcinoma
Renal insufficiency, Polydipsia, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephr... ORPHA:143
Smith-Lemli-Opitz Syndrome
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepatic steatosis, Self-mutilation,... OMIM:270400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Restrictive behavior, Hyperactivity, Violent behavior, Hypospadias... OMIM:619475
Alagille Syndrome 1
Duplicated collecting system, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular... OMIM:118450
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ab... ORPHA:168558
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Joint contracture, Hypoglycemia OMIM:618005
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hyposthenuria, Hypoglycemia ORPHA:91355
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ab... ORPHA:289548
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, Abnorma... ORPHA:534
Acute Liver Failure
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hyperammonemia, Hepatocellular ... ORPHA:90062
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Neuhauser Syndrome
Hypercholesterolemia, Dysphagia OMIM:249310
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Micropenis, Hypoglycemia, Torticollis OMIM:620224
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperglycemia, Pancreatic hypoplasia, Pancr... OMIM:609069
Ethylene Glycol Poisoning
Renal insufficiency, Facial palsy, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular... ORPHA:31826
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Hyperammonemia OMIM:616672
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Hypokalemia, Hypoglycemia ORPHA:786
Acute Promyelocytic Leukemia
Hematuria, Addictive alcohol use, Anorexia ORPHA:520
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Hypospadias, Recurrent hypoglycemia, Hypoalbuminemia... ORPHA:79324
Intellectual Developmental Disorder, Autosomal Dominant 68
Joint contracture of the 5th finger, Hepatic steatosis, Urinary incontinence, Attention deficit h... OMIM:619934
Aromatase Deficiency
Insulin resistance, Hyperlipidemia, Hepatic steatosis, Type II diabetes mellitus ORPHA:91
Staphylococcal Necrotizing Pneumonia
Diabetes mellitus, Addictive alcohol use, Elevated circulating C-reactive protein concentration ORPHA:36238
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, Congenital diaph... ORPHA:2162
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob... OMIM:619127
Atypical Werner Syndrome
Renal neoplasm, Skeletal muscle atrophy, Hypertriglyceridemia, Diabetes mellitus, Insulin-resista... ORPHA:79474
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Hyposthenuria, Polydipsia ORPHA:95513
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice, Hypercholest... ORPHA:90674
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615356
Herpes Simplex Virus Encephalitis
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration ORPHA:1930
3-Methylglutaconic Aciduria, Type Viii
Jaundice, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Dysphagia, Neonatal hypoglycemia OMIM:617248
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Hypercholesterolemia, Micropenis, Pancreatitis OMIM:619471
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Abnormal repetitive mannerisms ORPHA:2479
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Biotinidase Deficiency
Splenomegaly, Hepatomegaly, Organic aciduria, Hyperammonemia OMIM:253260
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:96180
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use ORPHA:399180
Cerebral Visual Impairment
Neonatal hypoglycemia, Attention deficit hyperactivity disorder ORPHA:447788
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Neonatal hypoglycemia, Hepatoblastoma, Pancreatic hyperplasia, Nep... OMIM:130650
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures OMIM:262600
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Hypoglycemia ORPHA:95496
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia, Maternal diabetes ORPHA:3157
X-Linked Dominant Chondrodysplasia Punctata
Flexion contracture, Hydronephrosis, Neonatal hypoglycemia ORPHA:35173
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Congenital foot contractures, Limb hypertonia ORPHA:565624
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Hypoglycemia, Prolonged neonatal jaundice OMIM:233600
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level, Hypoglycemia ORPHA:95613
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma, Increased circulating cor... OMIM:131100
1P36 Deletion Syndrome
Hepatic steatosis, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of ... ORPHA:1606
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Hip contracture, Hepatomegaly, Bilateral fetal pyelectasis, Microve... OMIM:300868
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis, Oroticaciduria, Hyperammonemia, Dysphagia OMIM:616457
Oculodentodigital Dysplasia
Neurogenic bladder, Hypoglycemia, Camptodactyly of finger ORPHA:2710
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperkalemia, E... ORPHA:293987
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... OMIM:619573
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Polyuria, Insulin resistance, Glucose intoleran... OMIM:606721
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Skeletal muscle atrophy, Diabetes mellitus, Aggressive behavior, A... ORPHA:273
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... ORPHA:537
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Flexion contracture, Hypoglycemia OMIM:616007
Scorpion Envenomation
Restlessness, Acute pancreatitis, Ketonuria, Increased circulating NT-proBNP concentration, Eleva... ORPHA:466677
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Hepatitis, Nephrotic sy... OMIM:615846
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Hypoglycemia, Myopathy ORPHA:109
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating aspartate aminotransferase concentration, Elevated circulating uracil concen... OMIM:311250
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Retroperitoneal fibrosis, Xanthelasma, Polydipsia, Hydronephrosis ORPHA:35687
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias OMIM:610644
Deeah Syndrome
Hepatomegaly, Dysphagia, Micropenis, Self-mutilation, Neonatal hypoglycemia, Exocrine pancreatic ... OMIM:619004
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... ORPHA:99226
Neurooculorenal Syndrome
Hypoplasia of the bladder, Decreased circulating cortisol level, Unilateral renal agenesis, Conju... OMIM:620305
Bloom Syndrome
Type II diabetes mellitus, Hepatic steatosis, Elevated hemoglobin A1c OMIM:210900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Flexion contracture, Knee flexion contracture, Hypocalcemia, Diaphragmatic eventration, Micropeni... OMIM:619503
Menkes Disease
Bladder diverticulum, Aplasia/Hypoplasia of the abdominal wall musculature, Hypoglycemia, Prolong... ORPHA:565
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Tendon xanthomatosis, Renal steatosis, Increased LDL cholesterol concentration, A... ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile duct dilatati... OMIM:619534
Ogden Syndrome
Global glomerulosclerosis, Torticollis, Maternal diabetes, Microvesicular hepatic steatosis, Jaun... OMIM:300855
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Macroglossia, Hypoglycemia OMIM:614501
Kabuki Syndrome 2
Neonatal hypoglycemia, Horseshoe kidney OMIM:300867
Biotinidase Deficiency
Limb muscle weakness, Organic aciduria, Hyperammonemia ORPHA:79241
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... ORPHA:415
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Histiocytoid Cardiomyopathy
Hepatomegaly, Hypoglycemia, Renal cyst ORPHA:137675
Lmna-Related Cardiocutaneous Progeria Syndrome
Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia, Abnormal intrahepatic... ORPHA:363618
Orotic Aciduria
Hematuria, Oroticaciduria, Orotic acid crystalluria OMIM:258900
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Renal hypoplasia, Azotemia, Micropenis, Hepatic steatosis OMIM:619321
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Abnormal circulating thyroglobulin level, Hypoglycemia, Prolonged neonatal jaundice ORPHA:226307
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Lo... ORPHA:90794
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Micropenis, Hepati... ORPHA:64
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Neonatal hypoglycemia, Myopathy, Enlarged kidney OMIM:261740
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Recurrent hypoglycemia ORPHA:293978
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Unco... OMIM:618278
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Camptodactyly of finger, W... ORPHA:3455
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Renal agenesis ORPHA:1848
Digeorge Syndrome
Renal insufficiency, Unilateral renal agenesis, Splenomegaly, Hydronephrosis, Hypocalcemia, Atten... OMIM:188400
Costello Syndrome
Renal insufficiency, Hypoglycemia, Rhabdomyosarcoma, Achilles tendon contracture, Macroglossia OMIM:218040
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Hypoglycemia, Vesicovaginal fist... OMIM:201750
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Weakness of facial musculature, Flexion contracture, Myopathy, Ethylmalonic aciduria OMIM:201470
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hip contracture, Hypospadias, Abnormality of the kidne... ORPHA:821
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Facial hypotonia, Neonatal hypoglycemia ORPHA:457359
Holoprosencephaly 1
Micropenis, Hypoglycemia OMIM:236100
Non-Acquired Panhypopituitarism
Hypoglycemia ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypoglycemia ORPHA:95494

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 Acads

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 Acads.

No publications found that use IMPC mice or data for Acads.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Acadstm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Acadstm39380(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Acadsem1(IMPC)Hmgu Exon Deletion Mice
Acadstm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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