Gene Summary

Name:
solute carrier family 22 (organic cation transporter), member 5
Synonyms:
Lstpl,  Octn2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Slc22a5em1(IMPC)Bay HOM   E9.5 0.00
preweaning lethality, complete penetrance Slc22a5em1(IMPC)Bay HOM   Early adult 0.00

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Slc22a5 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 Slc22a5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Recurrent hypoglycemia, Hypertroph... OMIM:212140
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158

The table below shows human diseases predicted to be associated to Slc22a5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Propionic Acidemia
Organic aciduria, Hypoglycemia, Cardiomyopathy, Hyperammonemia, Hepatomegaly ORPHA:35
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:232700
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Short stature... OMIM:268700
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly ORPHA:664
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotra... OMIM:619386
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Recurrent hypoglycemia, Hypertroph... OMIM:212140
Gracile Syndrome
Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra... OMIM:603358
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis, Polycystic ovaries, Proteinuria, Hem... OMIM:608709
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperammonemia, Hyperlysinemia, Dibasicaminoaciduria, Growth delay OMIM:238750
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Hyperammonemia, Elevated plasma citrulline, Cystinuria, Hyperlys... ORPHA:3124
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo... OMIM:600649
Splenoportal Vascular Anomalies
Hepatic fibrosis, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous system, ... OMIM:271500
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketotic hypoglycemia, Hypoglycem... ORPHA:293964
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Atri... OMIM:620211
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype... OMIM:201475
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Growt... ORPHA:369
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia ORPHA:6
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dicar... ORPHA:71212
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Decreased liver fu... OMIM:230400
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis OMIM:261650
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:619048
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Growth delay, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Abnormal pulmonary va... ORPHA:1194
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Splenomegaly, Aminoaciduria ORPHA:417
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... ORPHA:35878
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia ORPHA:147
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic steatosis, ... OMIM:617872
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Threoninemia
Hyperthreoninuria, Growth delay, Hyperthreoninemia OMIM:273770
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis OMIM:222730
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Intrauterine growth retardation... ORPHA:26792
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia ORPHA:419
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus, Intrauterine growth retardation, Short stature ORPHA:3199
Fanconi-Bickel Syndrome
Nephropathy, Hypophosphatemia, Elevated circulating alanine aminotransferase concentration, Hepat... ORPHA:2088
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Azoospermia, Increased LDL cholesterol concentration, Type II diabetes mellit... OMIM:615703
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circu... OMIM:618120
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... OMIM:616026
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Elevated circulati... OMIM:300555
Short Stature Due To Partial Ghr Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:314802
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia OMIM:606528
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Hepatomegaly, Tubulointerstitial nephrit... ORPHA:228308
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Hypoglycem... OMIM:617093
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Growth delay, Hypoglycemia, Splenomegaly, Hyperuricemia, Incre... OMIM:261750
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia ORPHA:28
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:212138
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay OMIM:247950
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia, Growth delay, Severe short stature OMIM:262400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Giant cell hepatitis, Cholestatic liver disease, Elevated circulating hepatic tran... OMIM:613404
2P21 Microdeletion Syndrome
Hypoglycemia, Hypogonadism, Hypocalcemia, Nephrolithiasis, Cystinuria, Growth delay ORPHA:163693
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Hypoglycemia, Endocardial fibroelastosis, Cryptorchidism, Hypoplasia ... ORPHA:2022
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Cardiomyopathy, Hypoglycemia, Hypergl... OMIM:606054
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Growt... ORPHA:289916
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglycemia,... OMIM:210200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Cryptorchidism, Ventricular septal defect,... OMIM:249270
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Fanconi-Bickel Syndrome
Hypouricemia, Postnatal growth retardation, Hyperbilirubinemia, Increased serum bile acid concent... OMIM:227810
Hydroxykynureninuria
Jaundice, Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Isolated Atp Synthase Deficiency
Renal hypoplasia, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Hyperammonem... ORPHA:254913
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Pituitary Hormone Deficiency, Combined, 4
Short stature, Severe postnatal growth retardation, Hypoglycemia, Pituitary dwarfism OMIM:262700
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:159
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hypoketotic hypoglyce... OMIM:231530
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Hypogonadism, External genital hypoplasia, Partial atri... OMIM:615996
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, E... ORPHA:26791
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... OMIM:246450
Wolcott-Rallison Syndrome
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia, Elevated c... ORPHA:1667
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... ORPHA:247598
Hyperprolinemia, Type I
Hyperprolinemia, Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:239500
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Hyperammonemia, Cardi... OMIM:614702
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Hypoglycemia, Cardiomyopathy, Stage 5 chronic kidney disease, Hyperglycin... OMIM:251000
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Elevated circulating he... ORPHA:99901
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:613027
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato... OMIM:231100
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:615395
Short Stature Due To Ghsr Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:314811
Argininemia
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Postnatal growth retardation, Oroticaciduri... OMIM:207800
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Rena... OMIM:261680
Mitochondrial Trifunctional Protein Deficiency 2
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrati... OMIM:620300
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Dilated cardiomyopathy, Decreased testicular size, Elevated circulatin... OMIM:610198
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyopathy, Acute hepa... OMIM:616483
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Intrauterine growth retardation, Hypoglycemia OMIM:223500
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatic fibrosis, Elevated circulating hepatic transaminase concentratio... OMIM:232400
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test, Growth delay, Elevated urinary formiminoglutamic ac... OMIM:229100
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Hepatomegaly, Homoc... OMIM:238970
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hyperammonemia, Hypoglycemia OMIM:620137
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c... OMIM:201450
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Organic aciduria, Hypoglycemia OMIM:614741
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Ketonuria, Hypoglycemia, Acute hepatic f... OMIM:615453
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u... OMIM:137920
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hyperchole... OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Abnormal heart morphology, Intrauterine growth retardation, External genital hypoplasia, Hypoglyc... ORPHA:231147
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Renal insufficiency, Splenomegaly, Hyperammonemia, Pancreatitis, Hepatomegaly ORPHA:79312
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... OMIM:606069
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu... OMIM:620357
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating pro... OMIM:251110
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Aminoaciduria, Giant cell hepatitis, Cholestatic liver disease, Elevated circulating hepatic tran... OMIM:208085
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Severe short stature ORPHA:2278
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Elevated circulating he... OMIM:609015
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Elevated circulating asparta... OMIM:620609
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyp... OMIM:617049
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl... ORPHA:324575
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hypertriglyceridemia, ... ORPHA:280356
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail... OMIM:251880
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Non-Acquired Isolated Growth Hormone Deficiency
Growth delay, Microphallus, Delayed puberty, Prolonged neonatal jaundice, Neonatal hypoglycemia, ... ORPHA:631
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyce... ORPHA:436182
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
3-Methylglutaconic aciduria, Hyperalaninemia, Hyperammonemia, Hypoglycemia OMIM:614739
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Increased level of gala... ORPHA:79237
Cystinosis
Aminoaciduria, Nephropathy, Type I diabetes mellitus, Portal hypertension, Renal insufficiency, R... ORPHA:213
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Elevated circulating tetradecanoylcarnitine co... OMIM:619355
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Hartnup Disorder
Short stature, Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria OMIM:234500
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Postnatal growth retardation, Short stature, Neonatal hypoglycemia, Abnormal extern... ORPHA:231140
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Hypospadias, Hyperammonemia, Hypoglycemia OMIM:618253
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:616299
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration... ORPHA:228305
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista... OMIM:262190
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Renal insufficiency, Hyperammonemia, Pancreatitis, Hepatomegaly ORPHA:27
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Hypo... OMIM:210210
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Jaundice, Hepatosplenomegaly ORPHA:33574
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia, Short stature ORPHA:23
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c... ORPHA:79159
Hsd10 Disease, Infantile Type
Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Abnormality of the lower urinary tract... ORPHA:391428
Valinemia
Hypervalinemia, Valinuria OMIM:277100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Polycystic ovaries, Myoglobinuria, Cirrhosis, Hepatomegaly, Porta... ORPHA:264580
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic... OMIM:618400
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:616878
Combined Oxidative Phosphorylation Deficiency 47
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Intrauterine growth retard... OMIM:618958
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Abnormal circulating selenium concentration, Growth delay, Fasting hypoglycemia ORPHA:171706
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Camptodactyly 1
Increased urinary taurine OMIM:114200
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogl... OMIM:617575
Lysinuric Protein Intolerance
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Glomerul... ORPHA:470
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Carnosinemia
Carnosinuria OMIM:212200
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly, Increased serum pyr... OMIM:266150
Hydroxylysinuria
Hyperlysinuria OMIM:236900
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria OMIM:260005
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Methylmalonic aciduria, Hypoglycemia, Di... ORPHA:289504
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Absent vas... ORPHA:93111
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate ami... OMIM:615486
Argininosuccinic Aciduria
Aminoaciduria, Hepatic fibrosis, Oroticaciduria, Elevated circulating aspartate aminotransferase ... OMIM:207900
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria, Hyperthreoninemia, Growth delay OMIM:204000
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function, 3-Methylglutaconic aciduria, Cardiomyopathy ORPHA:67048
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperalani... OMIM:617950
Solitary Fibrous Tumor
Uterine neoplasm, Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Vaginal neoplasm, Hypo... ORPHA:2126
Mody
Nephropathy, Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes m... ORPHA:552
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Severe short stature OMIM:204730
Dent Disease 1
Aminoaciduria, Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Congenital Generalized Lipodystrophy
Insulin resistance, Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external g... ORPHA:528
Indolylacroyl Glycinuria With Impaired Intellectual Development
Hyperglycinuria OMIM:243050
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Postnatal growth retardation, Hypocalcemia, Nephrolithiasis, Cystinuria, Ne... OMIM:606407
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ... ORPHA:209919
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276580
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Hyperammon... OMIM:619051
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hyperphosphatur... ORPHA:436271
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, C... OMIM:615381
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Birth length less than 3rd percentile, Delayed puberty, Micropenis OMIM:300148
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria OMIM:204750
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, G... ORPHA:2089
Mitochondrial Dna Depletion Syndrome 17
Hepatic failure, Low plasma citrulline, Hyperammonemia OMIM:618567
Hyperlysinemia, Type I
Hypoornithinemia, Hyperlysinuria, Cystinuria, Hyperlysinemia, Ornithinuria, Argininuria, Homocitr... OMIM:238700
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Clitoral hypertrophy, Elevated circulating long chain fatty acid concentration, Ab... OMIM:214110
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Hyperalaninemia, Hepatomegaly ORPHA:927
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276575
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conc... ORPHA:20
Cutis Laxa, Autosomal Recessive, Type Iiia
Hypoornithinemia, Intrauterine growth retardation, Hypoprolinemia, Cryptorchidism, Hyperammonemia... OMIM:219150
Citrullinemia, Classic
Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Cirrhosis, Hypoargininemia, Hepatomegaly, Elev... OMIM:215700
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic... ORPHA:276556
Homocarnosinosis
Carnosinuria OMIM:236130
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho... ORPHA:3032
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hyperphosphatur... OMIM:220110
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Intrauterine growth retardation, Hepat... ORPHA:53693
Beta-Ketothiolase Deficiency
Ketonuria, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Hepatomegaly ORPHA:134
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... OMIM:605814
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Muscular Dystrophy, Cardiac Type
Carnosinuria, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:309930
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Elevated circulating hepatic... ORPHA:26793
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic ovaries, H... ORPHA:79085
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria, Hepatomegaly OMIM:604273
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Horse... OMIM:607330
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Hyperglycinemia, Hyperammonemia, Elevated urine 3-hydroxypropi... OMIM:251100
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Grow... OMIM:232200
Cystathioninuria
Cystathioninemia, Cystathioninuria, Nephrolithiasis ORPHA:212
Hypertryptophanemia
Hypertryptophanemia, Tryptophanuria OMIM:600627
Fructose Intolerance, Hereditary
Transient aminoaciduria, Elevated circulating hepatic transaminase concentration, Glycosuria, Hyp... OMIM:229600
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Methylmalonic aciduria, Hyperhomocystinemia, Short stature, Methylmalonic acidemia OMIM:309541
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... ORPHA:3337
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... OMIM:619991
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Intrauterine growth retardation, Hyperammonemia OMIM:610678
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... ORPHA:3008
Dent Disease
Aminoaciduria, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosi... ORPHA:1652
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Hepatic ste... ORPHA:79083
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Aminoac... OMIM:219800
D-Glyceric Aciduria
Aminoaciduria, Hypoglycemia, Micropenis, Elevated circulating D-glyceric concentration, Growth de... OMIM:220120
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy, Abnormal renal tubule morphology, Growth delay, Hyperammonemia OMIM:611719
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypertrop... ORPHA:156
Acquired Generalized Lipodystrophy
Insulin resistance, Cardiomyopathy, Insulin-resistant diabetes mellitus, Abnormal circulating lip... ORPHA:79086
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal labia majora morphology, Hepati... ORPHA:435660
Sarcosinemia
Hypertrophic cardiomyopathy, Hypersarcosinuria, Pulmonic stenosis, Hypersarcosinemia ORPHA:3129
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Elevated circula... ORPHA:66634
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Clitoral hypertrophy, Long penis, Postprandial hyperglycemi... OMIM:246200
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Methylmalonic aciduria, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrati... OMIM:245400
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti... ORPHA:263455
Hsd10 Disease
Postnatal growth retardation, Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycin... ORPHA:391417
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal phosphate wasting, Chronic kidney disease, Proximal tubulopathy, Hypouricemi... ORPHA:411634
Developmental And Epileptic Encephalopathy 82
Short stature, Hyperammonemia OMIM:618721
Silver-Russell Syndrome 1
Abnormality of the ureter, Intrauterine growth retardation, Nephroblastoma, Testicular seminoma, ... OMIM:180860
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating pal... ORPHA:79282
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated circulating hepatic transaminase concentration, Growth delay, Hypertrophic cardiomyopath... OMIM:615471
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:480864
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Increased circulating ferritin concentration, Oroticaciduria, Stag... OMIM:222700
Phenylketonuria
Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, El... OMIM:261600
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:609560
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:613070
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovar... ORPHA:2348
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Elevated circulating propionylcarnitine concentration, Cr... OMIM:614857
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Growth delay, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cryptorchidism, 3-Met... OMIM:614052
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Cryptorchidism, Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:614736
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Phenylketonuria
Phenylalaninuria, Hyperphenylalaninemia ORPHA:716
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Hypertrophic cardiomyopathy... OMIM:276700
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy OMIM:612075
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Postnatal growth retardation, Type II diabetes mellit... ORPHA:254516
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Elevated urine suberic acid level, Methylmalonic aciduria, Hypoglycemia, ... OMIM:248360
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short stature, Postnatal growth retardation, Labial hypoplasia, Hypoglycemia ORPHA:231137
Aica-Ribosiduria Due To Atic Deficiency
Clitoral hypertrophy, Secundum atrial septal defect, Hypoglycemia, Hyponatremia, Fused labia mino... OMIM:608688
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia OMIM:605899
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic fibrosis, Thickened glomerular basement membrane, Elevated circulatin... OMIM:619487
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... OMIM:614582
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi... ORPHA:348
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... OMIM:611126
Pyruvate Dehydrogenase E1-Beta Deficiency
Hyperammonemia OMIM:614111
Laron Syndrome
Severe short stature, Hypoglycemia, Delayed puberty, Hypercholesterolemia, Hypoplasia of penis ORPHA:633
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Short stature, Methylmalonic aciduria, Elevated circulating creatine kinase concen... ORPHA:1933
Glycogen Storage Disease Ixd
Hypoglycemia, Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration,... OMIM:300559
Blue Diaper Syndrome
Nephrocalcinosis, Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase c... ORPHA:94086
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Growth delay, Organic aciduria ORPHA:79242
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Seckel Syndrome 10
Severe short stature, Ventricular hypertrophy, Insulin resistance, Glycosuria, Elevated circulati... OMIM:617253
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hypertr... ORPHA:435651
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Interstitial Nephritis, Karyomegalic
Elevated circulating hepatic transaminase concentration, Nephronophthisis, Renal tubular cyst, Gl... OMIM:614817
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Hypertrophic cardiomyopathy, Abnormal heart morphology, Hepatic steatos... ORPHA:70472
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine, Elev... OMIM:271980
Citrullinemia Type I
Hepatic failure, Elevated plasma citrulline, Hyperammonemia ORPHA:247525
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatom... ORPHA:363400
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Microphallus, Hypoglycemia, Postnatal growth retardation, Intrauterine growth reta... ORPHA:397590
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:618416
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Hypoglycemia, Hypogonadism, Postnatal growth ret... ORPHA:73272
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper ac... OMIM:614946
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:232220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Hy... OMIM:311250
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:124000
Sialidosis Type 1
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... ORPHA:812
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy OMIM:615119
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Decreased testicular size, Postnatal growth retardation, ... OMIM:616113
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Hyperglycinemia... ORPHA:79101
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Hypoglycemia OMIM:201910
Macrocephaly-Intellectual Disability-Autism Syndrome
Penile freckling, Hepatic steatosis ORPHA:210548
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cryptorchidism, Cardiomegaly, Perim... OMIM:620135
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Elevated urine N-acetylaspartic acid level, In... OMIM:618384
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Alpha-Methylacetoacetic Aciduria
Elevated urinary 2-methyl-3-hydroxybutyric acid level OMIM:203750
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cryptorch... ORPHA:79239
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Mi... ORPHA:47159
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Splenomegaly, Hypercalciuria, Hypophosphatemia, Polyuria, Calci... OMIM:239200
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Hyperammonemia, Myocard... ORPHA:292
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... OMIM:248600
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Intrauterine growth retardation, Hypoglycemia ORPHA:48431
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Decreased urinary sulfate, Increased urinary sulfite level, Elevated circulatin... OMIM:272300
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Cardiomyopath... ORPHA:157
Aromatase Deficiency
Insulin resistance, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, He... ORPHA:91
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Methylmalonic aciduria, Hypomethioninemia, Hyperhomocystinemia, Short stature, Ja... OMIM:250940
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Renal ... ORPHA:445038
Hypotonia-Cystinuria Syndrome
Cystinuria, Growth delay, Nephrolithiasis ORPHA:163690
Ethanolaminosis
Cardiomegaly OMIM:227150
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Secundum atrial septal defect, Elevated circulating S-adenos... OMIM:614300
Hyperlysinemia
Hypoornithinemia, Hyperlysinuria, Hyperammonemia, Cystinuria, Hyperlysinemia, Short stature, Argi... ORPHA:2203
Biotinidase Deficiency
Hepatomegaly, Hyperammonemia, Organic aciduria, Splenomegaly OMIM:253260
Combined Oxidative Phosphorylation Deficiency 27
Hyperammonemia, Microvesicular hepatic steatosis OMIM:616672
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis OMIM:615918
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, Diabetic ketoac... OMIM:615238
Mirage Syndrome
Microphallus, Hypoglycemia, Recurrent urinary tract infections, Decreased testicular size, Intrau... OMIM:617053
Dermotrichic Syndrome
Aminoaciduria, Proportionate short stature ORPHA:99688
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Aminoaciduria OMIM:273400
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Severe Canavan Disease
Elevated urine N-acetylaspartic acid level ORPHA:314911
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... ORPHA:369840
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating al... OMIM:618805
Ddost-Cdg
Short stature, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Nephro... ORPHA:300536
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fibrosis, Hepatomegaly, Hypertriglyceri... ORPHA:79259
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ... OMIM:277380
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Methylmalonic aciduria, Hypomethioninemia, Hyperhomocystinemia, Methylmalonic aci... OMIM:236270
Holocarboxylase Synthetase Deficiency
Hyperammonemia, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, Org... OMIM:253270
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Prolonged neonata... OMIM:214100
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Decreased testicular size, Postnatal growth retardation, Type II diabetes mellitus,... ORPHA:453533
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Hypoargininemia, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication OMIM:237300
Glutaric Acidemia I
Glutaric aciduria, Ketonuria, Elevated circulating glutaric acid concentration, Hypoglycemia, Hep... OMIM:231670
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Tetralogy of Fallot, Aminoaciduria OMIM:250620
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep... OMIM:619013
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating tiglylglycine concentration OMIM:300438
Leigh Syndrome
Generalized aminoaciduria, Hepatic failure, Methylmalonic aciduria, Hypoglycemia, Hypertrophic ca... ORPHA:506
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Short ... OMIM:612073
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... OMIM:614105
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Cryptorchidism, Delayed puberty, Short stature, Hypoplasia of penis ORPHA:95496
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Low-molecular-weight protein... ORPHA:18
Glutamine Deficiency, Congenital
Hypoglutaminemia, Hyperammonemia OMIM:610015
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Beta-aminoisobutyric aciduria, Hyperglycinemia OMIM:615330
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Oroticaciduria, Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasma c... OMIM:620358
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc... OMIM:605850
Molybdenum Cofactor Deficiency, Type A
Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ... OMIM:252150
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Labial pseudohypert... OMIM:151660
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Chronic p... OMIM:232240
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased testicular size, Hypogonadotropic hypogonadism, Delayed puberty, Growth d... ORPHA:95619
Alstrom Syndrome
Nephritis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Insul... OMIM:203800
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:618329
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Hypoglycemia, Intrauterine growth retardation, Elevated circulati... OMIM:619055
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Hyperkalemia, Abnormal labia majora morphology, Decreased testicular size, ... ORPHA:90791
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, La... OMIM:608594
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypoglycemia, Hypertrophic cardiomyopathy, Mitral atresia, Hyperglycemia, Hyperammonem... OMIM:220111
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Homocystinuria, Hepatic steatosis, Mitral valve prolapse, Pancreatitis, Hyper... OMIM:236200
Glutathionuria
Urinary incontinence, Glutathionuria OMIM:231950
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, H... ORPHA:5
N-Acetylglutamate Synthase Deficiency
Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Low plasma citrulline, Hyperalaninemia OMIM:237310
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi... OMIM:269700
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation, Hypoglycemia, Elevated circulating creatine kinase... OMIM:618838
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria ORPHA:30
19P13.12 Microdeletion Syndrome
Precocious puberty, Intrauterine growth retardation, Hyperlipidemia, Cryptorchidism, Hepatic stea... ORPHA:254346
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Recurrent hypoglycemia, Intrauterine growth retardation, Cryptorchidism, Delaye... OMIM:616817
Silver-Russell Syndrome
Precocious puberty, Insulin resistance, Abnormal male external genitalia morphology, Abnormality ... ORPHA:813
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Postnatal growth retardation, Hepatic steato... OMIM:616263
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Hyperechogenic pancreas, Ab... ORPHA:456312
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Renal... OMIM:130650
Myasthenic Syndrome, Congenital, 22
Short stature, Cystinuria OMIM:616224
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Hypernatriuria, Recurrent urinary tract infections, Hy... ORPHA:361
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Decreased liver function, Cardiomyopathy, Renal insufficiency, Hepatic steatosi... OMIM:614922
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Growth delay, Micronodular cirrhosis, Hypoglycemia, Hepatocellular necrosis, Cho... OMIM:256810
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy OMIM:618234
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinuria, Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration, Intrauteri... OMIM:616034
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, External genital hypop... ORPHA:79322
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated ... ORPHA:99826
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin resista... ORPHA:769
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Clitoral hypertrophy, Long penis, Nephrocalcinosi... ORPHA:508
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating threonine concent... ORPHA:79096
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Hyperornithinemia ORPHA:414
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Reactive hypoglycemia, Hyperuricemi... ORPHA:469
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... OMIM:277400
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated circulating cr... ORPHA:52430
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Intrauterine growth retardation, ... OMIM:610505
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He... OMIM:610717
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:615595
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Increased circulating ferritin concentration, Hyperglycemia, Portal hypertension,... ORPHA:465508
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly, Hyperprolinemia, Increased serum pyruvate, Hyperalaninemia, Neonata... OMIM:619046
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hepatic steatos... ORPHA:412
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Abnormal female external genitalia morphology, Endometrial carcinoma, Hyponatremia,... ORPHA:90790
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia, Increased urinary glycerol OMIM:229700
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Growth delay, Abnormal renal collecting ... ORPHA:17
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Intrauterine growth retardation, Hypercalcemia, Cryptorchidism, Hyp... OMIM:614732
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Cardiomyopathy, Intrauterine growth retardation, Elevated... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Hypertrophic cardiomyopathy, Intrauterine growth retardat... OMIM:618835
Congenital Disorder Of Glycosylation, Type Ip
Hyperammonemia OMIM:613661
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormal circulating cholesterol concentration, Abnor... ORPHA:168558
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Cardiomyopathy, Postnatal growth retardation, Splenomegaly, Hypocalcem... ORPHA:289157
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Infantile Sialic Acid Storage Disease
Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic syndrome, Conjugated hyperbilirubinemia OMIM:269920
Infantile Liver Failure Syndrome 1
Hepatomegaly, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Acute h... OMIM:615438
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Growth delay, Decreased liver function, Hypoglycemia, Elevated cir... OMIM:608779
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf... OMIM:619418
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Ketotic hypoglycemia, Hyperal... OMIM:620646
Rett Syndrome
Hyperammonemia, Increased serum pyruvate, Growth delay, Cholecystitis ORPHA:778
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Proxi... OMIM:212065
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormal circulating cholesterol concentration, Abnor... ORPHA:289548
Fumarase Deficiency
Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Hype... OMIM:606812
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Pearson Syndrome
Postnatal growth retardation, Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoplastic sple... ORPHA:699
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:79644
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Hypertyrosinemia, Growth ... OMIM:276600
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Hep... ORPHA:2959
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Renal artery stenosis, Splenomegaly, Hypocalce... OMIM:617913
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:618241
Immunodeficiency 10
Hypoglycemia, Recurrent urinary tract infections, Splenomegaly, Hepatomegaly, Nephrotic syndrome OMIM:612783
Monosomy 13Q34
Insulin resistance, Hypercalcemia, Hepatic steatosis, Fetal pyelectasis, Common atrium, Growth de... ORPHA:96168
Neuraminidase Deficiency
Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sial... OMIM:256550
Adrenomyodystrophy
Short stature, Abnormality of the urinary system, Hepatic steatosis, Megacystis ORPHA:977
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... ORPHA:2137
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Rhizomelia, Hypoglycemia, Cryptorchidism, Patent foramen ovale, Hypocalcemia, Micr... OMIM:607143
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Short stature, Ectopic kidney ORPHA:634
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Postnatal growth retardation, Low-molec... OMIM:309000