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Gene: Slc22a5 MGI:1329012

Gene Summary

Name:

solute carrier family 22 (organic cation transporter), member 5

Synonyms:

Lstpl, Octn2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
embryonic lethality prior to organogenesis		Slc22a5^em1(IMPC)Bay	HOM		E9.5	0.00
preweaning lethality, complete penetrance		Slc22a5^em1(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.

Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of left eye

15 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

VIP of right eye

15 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

VIP of right fundus

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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.

Human diseases associated with Slc22a5 (2 diseases)
Human diseases predicted to be associated with Slc22a5 (749 diseases)

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		Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Systemic Primary Carnitine Deficiency		Elevated hepatic transaminase, Hepatomegaly	ORPHA:158

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

Disease	Matching phenotypes	Source
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria	ORPHA:35
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure	ORPHA:664
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:615158
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth...	OMIM:232700
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla...	OMIM:619386
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri...	OMIM:603358
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Saccharopinuria	Citrullinuria, Short stature, Elevated circulating sacchoropine concentration, Histidinuria, Sacc...	OMIM:268700
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hem...	OMIM:608709
Saccharopinuria	Citrullinuria, Short stature, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnorm...	ORPHA:3124
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Hyperlysinemia	OMIM:238750
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Growth dela...	OMIM:620211
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Abnormality of the kidn...	ORPHA:369
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinas...	OMIM:201475
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:6
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Elevated c...	OMIM:615160
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg...	OMIM:308990
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis	OMIM:261650
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, E...	ORPHA:2394
Galactosemia I	Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase con...	OMIM:230400
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi...	ORPHA:35878
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated ci...	OMIM:619048
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria, Short stature	ORPHA:417
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Growth delay, Aminoaciduria	ORPHA:79238
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Hepatic...	ORPHA:71212
Iminoglycinuria	Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria	ORPHA:42062
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia	ORPHA:67046
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating creatinine conce...	OMIM:617872
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Abnormality of the kidney, Crypto...	ORPHA:1194
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperam...	OMIM:246450
Hyperinsulinemic Hypoglycemia, Familial, 6	Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, ...	OMIM:606762
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Stimmler Syndrome	Intrauterine growth retardation, Aminoaciduria, Short stature, Type II diabetes mellitus	ORPHA:3199
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Hyperprolinemia, Prolinuria	OMIM:239510
Fanconi-Bickel Syndrome	Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulating aspartate...	ORPHA:2088
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Threoninemia	Growth delay, Hyperthreoninuria, Hyperthreoninemia	OMIM:273770
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Ethylmalo...	ORPHA:26792
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria	ORPHA:419
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal...	ORPHA:446
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia, Dilated cardiomy...	OMIM:618120
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Oligozoospermi...	OMIM:615703
Dent Disease 2	Short stature, Elevated circulating aspartate aminotransferase concentration, Elevated circulatin...	OMIM:300555
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria	OMIM:606528
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ...	OMIM:616026
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Increased muscle glycogen ...	OMIM:261750
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cardiomyopathy	OMIM:609016
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	OMIM:610717
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Hypo...	OMIM:212138
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased...	OMIM:608836
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce...	OMIM:617093
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti...	ORPHA:228308
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia	ORPHA:28
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc...	OMIM:615751
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Isolated Growth Hormone Deficiency, Type Ia	Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Lysine Malabsorption Syndrome	Growth delay, Hyperlysinuria, Renal tubular lysine transport defect	OMIM:247950
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Cystinuria, Growth delay, Hypogonadism, Hypocalcemia	ORPHA:163693
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Pro...	OMIM:613404
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi...	OMIM:251000
Propionic Acidemia	Hepatomegaly, Short stature, Hypoglycemia, Increased level of hippuric acid in urine, Hyperglycin...	OMIM:606054
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati...	ORPHA:79084
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl...	OMIM:210200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Hyperammonemia, Growth delay, Renal tubular dysfunction, Pancr...	ORPHA:289916
Short Stature Due To Partial Ghr Deficiency	Growth delay, Short stature, Hypoglycemia, Delayed puberty	ORPHA:314802
Pituitary Hormone Deficiency, Combined, 4	Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia	OMIM:262700
Endocardial Fibroelastosis	Hypoplasia of penis, Hypoglycemia, Cryptorchidism, Endocardial fibroelastosis, Restrictive cardio...	ORPHA:2022
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Isolated Atp Synthase Deficiency	Hepatomegaly, Short stature, Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, 3-Methylgl...	ORPHA:254913
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, External genital hypoplasia, Partial atrioventric...	OMIM:615996
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circulating aspartate amino...	OMIM:227810
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Short stature, ...	ORPHA:1667
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn...	ORPHA:159
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth...	OMIM:613027
Argininemia	Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammonemia, Cholestasis, ...	OMIM:207800
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino...	OMIM:615395
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase...	OMIM:620300
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic c...	OMIM:614702
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati...	ORPHA:26791
Hydroxykynureninuria	Aminoaciduria, Jaundice	OMIM:236800
Short Stature Due To Ghsr Deficiency	Growth delay, Short stature, Hypoglycemia, Delayed puberty	ORPHA:314811
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H...	OMIM:614480
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic ...	OMIM:231530
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Car...	OMIM:616483
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminot...	OMIM:261680
Hyperprolinemia, Type I	Hydroxyprolinuria, Hyperglycinuria, Hyperprolinemia, Prolinuria	OMIM:239500
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu...	ORPHA:99901
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Short stature, Ventricular septal defect, Situs inversus totalis, Cryptorchidi...	OMIM:249270
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:601820
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Short stature, Elevated cir...	OMIM:232400
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm...	OMIM:137920
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homoc...	OMIM:238970
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Insulin resistance, Microscopic hematuria, Hepatic steatosis	ORPHA:79087
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Am...	OMIM:615605
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Gr...	OMIM:615453
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia	OMIM:614741
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Intrauterine growth retardation, Hypoglycemia, External genital hypoplasia, Abnormal heart morpho...	ORPHA:231147
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre...	OMIM:301045
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Cardiomyopathy, Pancreatitis	ORPHA:79312
Glutamate Formiminotransferase Deficiency	Growth delay, Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chlor...	OMIM:229100
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ...	OMIM:618641
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617049
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen...	OMIM:610198
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Short stature, Diabetes mellitus, Splenomegaly, Insulin resis...	OMIM:612526
Hyper-Beta-Alaninemia	Increased urinary taurine, Hyperbeta-alaninemia	OMIM:237400
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Severe short stature	ORPHA:2278
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:609015
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Conjugated hyperb...	OMIM:208085
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr...	OMIM:306000
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab...	ORPHA:324575
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein...	OMIM:251880
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus a...	ORPHA:280356
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica...	OMIM:231680
Cystinosis	Renal insufficiency, Short stature, Proteinuria, Portal hypertension, Hypophosphatemia, Renal tub...	ORPHA:213
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, 3-Methylglutaconic aciduria, Hypoglycemia, Hyperammonemia	OMIM:614739
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Abnormal external genitalia, Short stature, Hypoglycemia, Postnatal growth retardation, Neonatal ...	ORPHA:231140
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Short stature, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis,...	OMIM:262190
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic st...	ORPHA:436182
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Hypospadias, Hypoglycemia, Hyperammonemia	OMIM:618253
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox...	OMIM:201450
Galactokinase Deficiency	Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hepatosplenomegaly,...	ORPHA:79237
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Cardiomyopathy, Pancreatitis	ORPHA:27
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Short stature, Hypoglycemia	ORPHA:366
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar...	ORPHA:209919
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Jaundice, Hepatosplenomegaly	ORPHA:33574
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria, Hyperhomocystinemia	OMIM:236250
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati...	OMIM:619355
Rotor Syndrome	Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Porphyrinuria, Hyp...	ORPHA:3111
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Argininosuccinic Aciduria	Short stature, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Organic aciduria,...	OMIM:210210
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati...	ORPHA:228305
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Hsd10 Disease, Infantile Type	Hypoglycemia, Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy, Abnormal concentration o...	ORPHA:391428
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Hepatic fibr...	ORPHA:264580
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc...	OMIM:616878
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De...	OMIM:616299
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Di...	ORPHA:79159
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Valinemia	Hypervalinemia, Valinuria	OMIM:277100
Carnosinemia	Carnosinuria	OMIM:212200
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Growth delay, Fasting hypoglycemia, Short stature, Abnormal circulating selenium concentration	ORPHA:171706
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, 3-Methylglutaconic aciduria, Hypoglycemia, Decreased liver function	ORPHA:67048
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis	OMIM:260005
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Vaginal neoplasm, Reduced C-peptide level, Neoplasm...	ORPHA:2126
Hyperlysinemia, Type I	Hyperlysinemia, Hyperlysinuria	OMIM:238700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, H...	ORPHA:93111
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani...	OMIM:266150
Hartnup Disorder	Short stature, Neutral hyperaminoaciduria	OMIM:234500
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Mesangial hypercell...	OMIM:617575
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidur...	ORPHA:289504
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Severe short stature	OMIM:204730
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemi...	ORPHA:276580
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki...	OMIM:300009
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Postnatal growth retardation, Nephrolithiasis, Cystinuria, Hypoca...	OMIM:606407
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Phenylketonuria	Aminoaciduria	ORPHA:716
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated c...	OMIM:617950
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Intrauterine growth re...	OMIM:618958
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Diabetes mellitus, Precocio...	ORPHA:528
Fanconi Renotubular Syndrome 2	Renal insufficiency, Short stature, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypop...	OMIM:613388
Mehmo Syndrome	Hypoglycemia, Birth length less than 3rd percentile, Delayed puberty, Male hypogonadism, Micropenis	OMIM:300148
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li...	OMIM:246900
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Leber Congenital Amaurosis 1	Growth delay, Hyperthreoninuria, Hyperthreoninemia, Hepatomegaly	OMIM:204000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid leve...	ORPHA:276575
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr...	ORPHA:293964
Mitochondrial Dna Depletion Syndrome 17	Low plasma citrulline, Hyperammonemia, Hepatic failure	OMIM:618567
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopat...	OMIM:619051
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ketonur...	ORPHA:20
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Gl...	ORPHA:2089
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele...	ORPHA:53693
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid...	ORPHA:276556
Homocarnosinosis	Carnosinuria	OMIM:236130
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia	ORPHA:927
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Renal tubu...	OMIM:220110
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Elevated circulating creatine kinase concentration, Carnosinuria	OMIM:309930
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea...	ORPHA:26793
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria	OMIM:604273
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	ORPHA:79240
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hyperglycemia	ORPHA:134
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Proteinuria, Hepatocell...	OMIM:232200
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Poly...	ORPHA:79085
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Abnormal heart morpholog...	OMIM:214110
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hepatomegaly, Hyperphosphaturia, Hypoglyc...	OMIM:229600
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Hyperammonemia, Hepatomegaly	OMIM:610678
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hy...	OMIM:251100
Donohue Syndrome	Postnatal growth retardation, Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovar...	OMIM:246200
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrati...	OMIM:619991
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Hypertryptophanemia	Tryptophanuria, Hypertryptophanemia	OMIM:600627
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Cryptorchid...	OMIM:615381
Cystathioninuria	Cystathioninemia, Cystathioninuria, Nephrolithiasis	ORPHA:212
Combined Oxidative Phosphorylation Deficiency 5	Growth delay, Hypertrophic cardiomyopathy, Hyperammonemia, Abnormal renal tubule morphology	OMIM:611719
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r...	ORPHA:79083
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co...	OMIM:617156
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia...	ORPHA:101330
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Cutis Laxa, Autosomal Recessive, Type Iiia	Short stature, Cryptorchidism, Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Hypoornithi...	OMIM:219150
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hype...	ORPHA:156
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Methylmalonic acidemia, Short stature, Methylmalonic aciduria, Hyperhomocystinemia, Homocystinuria	OMIM:309541
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin r...	ORPHA:435660
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent...	ORPHA:263455
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Dark urine, Conjugated hyperbi...	ORPHA:79303
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
Hsd10 Disease	Postnatal growth retardation, Abnormal urinary acylglycine profile, Elevated urinary 3-hydroxybut...	ORPHA:391417
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni...	ORPHA:3337
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:245400
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
D-Glyceric Aciduria	Hypoglycemia, Nonketotic hyperglycinemia, Growth delay, Aminoaciduria, Micropenis	OMIM:220120
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hypergly...	OMIM:251110
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-...	ORPHA:79086
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Lactic...	ORPHA:3008
Sarcosinemia	Hypersarcosinuria, Hypertrophic cardiomyopathy, Hypersarcosinemia, Pulmonic stenosis	ORPHA:3129
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Developmental And Epileptic Encephalopathy 82	Short stature, Hyperammonemia	OMIM:618721
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Fast...	OMIM:180860
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa...	ORPHA:66634
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Hypoglycemia, Renal insuffi...	ORPHA:79282
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Hypospadias, Hyperammonemia, Growth delay, Renal tubular acidosis,...	OMIM:615471
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia	ORPHA:2158
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Short stature, Increased circulating ferritin concentration, Splenom...	OMIM:222700
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc...	ORPHA:480864
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resi...	ORPHA:2348
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:203800
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ...	OMIM:614921
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia, Hypospadias, Renal salt wasting	OMIM:201910
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Malonyl-Coa Decarboxylase Deficiency	Short stature, Left ventricular noncompaction cardiomyopathy, Hypoglycemia, Dilated cardiomyopath...	OMIM:248360
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy	OMIM:612075
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Renal insufficienc...	OMIM:619487
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration, Glycogen accumulation in muscle...	OMIM:300559
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia	OMIM:615026
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl...	OMIM:615980
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Postnatal growth retardation, Short stature, Labial hypoplasia, Hypoglycemia	ORPHA:231137
N-Acetylglutamate Synthase Deficiency	Hyperglutamatemia, Hyperammonemia	OMIM:237310
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato...	OMIM:611126
Pyruvate Dehydrogenase E1-Beta Deficiency	Hyperammonemia	OMIM:614111
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased proinsulin:insulin ratio, Nephrocalcinosi...	ORPHA:94086
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia, Fused labia minora, Secundum atrial septal defect, Elevated urinary 5...	OMIM:608688
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Short stature, Elevated circulating creatine kinase concentration, Methylmalonic a...	ORPHA:1933
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Hyperurice...	ORPHA:348
Laron Syndrome	Hypoplasia of penis, Severe short stature, Hypoglycemia, Delayed puberty, Hypercholesterolemia	ORPHA:633
Combined Oxidative Phosphorylation Deficiency 9	Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:614582
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Cryptorchidism, Hyperammonemia, Growth delay, 3-Methylglutaconic aciduria, Hyperalan...	OMIM:614052
Holocarboxylase Synthetase Deficiency	Growth delay, Organic aciduria, Hyperammonemia	ORPHA:79242
Glycine Encephalopathy 1	Hyperglycinuria, Hyperglycinemia	OMIM:605899
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Hypoglycemia, He...	OMIM:232220
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal reproductive system morphology, Abnormal heart morphology, Decreased liver function, Hyp...	ORPHA:70472
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep...	OMIM:264470
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Severe short stature, Hypertriglyceridemia, Elevated...	OMIM:617253
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:618416
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Growth delay, Aminoaciduria, Elevated hepatic iron concentration, I...	OMIM:614946
Citrullinemia Type I	Elevated plasma citrulline, Hepatic failure, Hyperammonemia	ORPHA:247525
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Short stature, Hypogonadotropic hypogonadism, Hypoglycemia	ORPHA:48431
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea...	ORPHA:363400
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Hypoglycemia, Postnatal growth retardation, Insulin resistance, Severe postnatal g...	ORPHA:73272
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating aspartate aminotransferase concentration, Elevated circulating uracil concen...	OMIM:311250
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Short stature, Splenomegaly, Increased urinary ...	ORPHA:812
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepa...	ORPHA:435651
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Temple Syndrome	Short stature, Postnatal growth retardation, Precocious puberty, Cryptorchidism, Recurrent hypogl...	ORPHA:254516
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypoglycemia, Hypospadias, Postnatal growth retardation, Cryptorchidism, Abnormali...	ORPHA:397590
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepa...	ORPHA:541423
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,...	ORPHA:276608
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hypoglycemia, Renal salt wasting, Precocious puberty, Cryptorchidism, Hyperkalemia	OMIM:614736
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Short stature, Hyperuricemia, Hypoglycemia	ORPHA:364
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine, Elev...	OMIM:271980
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Methylmalonic aciduria, Hyperhomocysti...	OMIM:614857
Congenital Enterovirus Infection	Pericardial effusion, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Cardiomyopathy, Hypoal...	ORPHA:292
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-...	ORPHA:47159
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis, Penile freckling	ORPHA:210548
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Decreased urinary sulfate, Elevated circulating creatine kinase concentration, ...	OMIM:272300
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis	OMIM:615119
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Multiple pancreatic beta-cell adenomas, Decreased circulating free fatty acid level, R...	ORPHA:79644
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Growth delay, Cardiomyopathy, Nep...	ORPHA:445038
Hypotonia-Cystinuria Syndrome	Growth delay, Nephrolithiasis, Cystinuria	ORPHA:163690
Biotinidase Deficiency	Splenomegaly, Hepatomegaly, Organic aciduria, Hyperammonemia	OMIM:253260
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi...	OMIM:278000
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem...	ORPHA:2298
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Hypergly...	ORPHA:79101
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine	OMIM:266130
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Hyperammonemia	OMIM:616672
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Hyperlysinemia	Short stature, Argininuria, Hyperammonemia, Cystinuria, Hyperlysinuria, Hypoornithinemia, Decreas...	ORPHA:2203
Polyendocrine-Polyneuropathy Syndrome	Short stature, Elevated hemoglobin A1c, Hypoglycemia, Hypogonadotropic hypogonadism, Postnatal gr...	OMIM:616113
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Jaundice, Delayed pube...	ORPHA:79239
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Hypogonadism	OMIM:273400
Dermotrichic Syndrome	Aminoaciduria, Proportionate short stature	ORPHA:99688
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase concentration...	OMIM:618805
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide...	OMIM:615238
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, H...	OMIM:253270
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Oroticaciduria, Hepatitis, Hyperammonemia, Hyperorni...	ORPHA:415
Aromatase Deficiency	Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto...	ORPHA:91
Ddost-Cdg	Elevated hepatic transaminase, Hepatic steatosis, Short stature, Nephrotic range proteinuria	ORPHA:300536
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Tetralogy of Fallot	OMIM:250620
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu...	OMIM:614300
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatome...	ORPHA:79259
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Short stature, Hypoglycemia, Hypospadias, Hyper...	OMIM:617053
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, 2-ethylhydracylic aciduria	OMIM:610006
Leigh Syndrome	Ventricular septal defect, Hypoglycemia, Generalized aminoaciduria, Lacticaciduria, Methylmalonic...	ORPHA:506
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Methyl...	OMIM:612073
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Hypoglycemia, Elevated circulating branched chain amin...	OMIM:248600
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Short stature, Dextrocardia, Cystathioninuria, Methylmaloni...	OMIM:277380
Glutamine Deficiency, Congenital	Hypoglutaminemia, Hyperammonemia	OMIM:610015
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid conc...	OMIM:231670
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Beta-aminoisobutyric aciduria, Hyperglycinemia	OMIM:615330
Molybdenum Cofactor Deficiency, Complementation Group A	Hypouricemia, Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione...	OMIM:252150
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Cryptorchi...	OMIM:214100
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia,...	OMIM:619055
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrov...	OMIM:618329
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Hyperammonemia, Low plasma citrulline, Hypoargininemia, Episodic ammonia intoxication	OMIM:237300
Glutathionuria	Urinary incontinence, Glutathionuria	OMIM:231950
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypoglycemia, Increased hepatocellular lipid dr...	OMIM:220111
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Grow...	ORPHA:411629
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hepatosplenomegaly, Hypoalbum...	OMIM:619013
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Hypoglycemia, Proteinuria, Chronic pancreatitis, Hepatocellula...	OMIM:232240
Dimethylglycine Dehydrogenase Deficiency	Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc...	OMIM:605850
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Homocysti...	OMIM:236270
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Clitoral hypertrophy, Penoscrotal hypospadias, Hypospadias, Renal salt wasting, Fem...	ORPHA:90791
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m...	OMIM:608594
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Hypoglycemia, Elevated circulating creatine kinase concentration...	OMIM:618838
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h...	ORPHA:5
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria	ORPHA:30
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypoglycemia, Hypogonadotropic hypogonadism, Postnatal growth retardat...	ORPHA:453533
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Methioninuria, Mitral valve prolapse, Hyperhomocystinemia, Hypermethioninemia,...	OMIM:236200
Distal Renal Tubular Acidosis	Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Gr...	ORPHA:18
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Short stature, Hypoglycemia, Cryptorchidism, Delayed puberty	ORPHA:95496
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyperglycinemia, Hyper...	OMIM:620358
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, Hypoglycemia	OMIM:300438
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pan...	ORPHA:456312
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated ...	OMIM:614105
Silver-Russell Syndrome	Abnormality of male external genitalia, Short stature, Hypospadias, Postnatal growth retardation,...	ORPHA:813
Myasthenic Syndrome, Congenital, 22	Short stature, Cystinuria	OMIM:616224
Rabson-Mendenhall Syndrome	Enlarged ovaries, Clitoral hypertrophy, Short stature, Ventricular septal defect, Impaired glucos...	ORPHA:769
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hypomethioninemia, Homocystinuria, Hyperhomocystinemia	OMIM:250940
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac...	OMIM:614922
Leprechaunism	Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Postnatal...	ORPHA:508
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Hypertrophic cardiomyopathy, Macrovesicular hepatic steatosis	OMIM:618234
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Short stature, Pancreatic fibrosis, Postnatal growth retardation...	OMIM:616263
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransfera...	OMIM:256810
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Jaundice, Chronic kidney disease, Hyper...	ORPHA:469
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Elevated circulating creatine kinase concentration, Cardiomyopathy, Urinary bladde...	ORPHA:52430
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Increased urinary glycerol, Hypoglycemia	OMIM:229700
Post-Traumatic Pituitary Deficiency	Hypoglycemia, Hypogonadotropic hypogonadism, Growth delay, Delayed puberty, Decreased testicular ...	ORPHA:95619
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Pericarditis, Renal insufficiency, Hypoglycemia, Elevated circulat...	ORPHA:99826
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
19P13.12 Microdeletion Syndrome	Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Atria...	ORPHA:254346
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Short stature, Cryptorchidism, Renal hypoplasia, Growth delay, Recurrent hypoglycemia, Delayed pu...	OMIM:616817
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidi...	OMIM:130650
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyo...	OMIM:610505
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Decreased liver...	OMIM:618839
Monocarboxylate Transporter 1 Deficiency	Ketonuria, Ketotic hypoglycemia	OMIM:616095
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased liver function, Intra...	OMIM:618835
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Hypoglycemia, Jaundice, Male pseudohermaphroditism, Hyperkal...	ORPHA:90790
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Congenital Disorder Of Glycosylation, Type Ip	Hyperammonemia	OMIM:613661
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase, Hypoglyce...	ORPHA:17
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentrati...	OMIM:608779
2,4-Dienoyl-Coa Reductase Deficiency	Decreased plasma free carnitine, Hyperlysinemia, Hyperlysinuria, Intrauterine growth retardation	OMIM:616034
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria	ORPHA:414
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Moderate postnat...	ORPHA:69076
Orthostatic Hypotension 2	Hypoglycemia, Decreased glomerular filtration rate	OMIM:618182
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:615438
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Hypoglycemia, Sp...	OMIM:619418
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hypergonadotropic hypogonadism, Protei...	OMIM:212065
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:618241
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Cardiomyopat...	ORPHA:699
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Growth delay, Nephrocalcinosis, Aminoac...	OMIM:617913
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Short stature, Hypospadias, Hypergonadot...	ORPHA:2959
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyperalaninemia, Neonata...	OMIM:619046
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Neonatal hypoglycemia, Renal salt wasting, Sex reversal, Increased circulating renin level, Ambig...	ORPHA:168558
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome	OMIM:269920
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Ketotic hypoglycemia, Renal salt wasting, Preco...	ORPHA:361
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Adrenomyodystrophy	Hepatic steatosis, Abnormality of the urinary system, Short stature, Megacystis	ORPHA:977
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Neonatal hypoglycemia, Renal salt wasting, Sex reversal, Increased circulating renin level, Ambig...	ORPHA:289548
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Short stature, Proteinuria, Cardi...	OMIM:256550
Monosomy 13Q34	Hypercalcemia, Insulin resistance, Fetal pyelectasis, Growth delay, Pulmonic stenosis, Common atr...	ORPHA:96168
Fumarase Deficiency	Bilateral fetal pyelectasis, Increased urine succinate level, Intrahepatic cholestasis, Elevated ...	OMIM:606812
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly...	ORPHA:2137
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Elevated cir...	ORPHA:230
Netherton Syndrome	Aminoaciduria, Short stature, Hydronephrosis, Ectopic kidney	ORPHA:634
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn...	OMIM:277400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Rhizomelia, Hypoglycemia, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis, P...	OMIM:607143
Rett Syndrome	Increased serum pyruvate, Cholecystitis, Hyperammonemia	ORPHA:778
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice, Neonat...	ORPHA:199296
Timothy Syndrome	Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent ...	OMIM:601005
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, In...	ORPHA:2609
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce...	OMIM:309000
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Mac...	ORPHA:298
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Growth delay, Cardiomyopathy, Aminoaciduria, Nephrocalcinosis	OMIM:616084
Acute Liver Failure	Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemi...	ORPHA:90062
Developmental And Epileptic Encephalopathy 50	Renal tubular acidosis, Oroticaciduria, Hyperammonemia	OMIM:616457
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Lacticaciduria, Elevated circ...	OMIM:605711
Glycerol Kinase Deficiency	Hypertriglyceridemia, Short stature, Hypoglycemia, Hyperglycerolemia, Chronic pancreatitis, Incre...	OMIM:307030
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart val...	ORPHA:99776
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Growth delay, 3-Methylglutaconic aciduria, Intrauterine growth retardation, Hepatic s...	OMIM:616271
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Intrauterine growth retardation	ORPHA:858
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypoglycemia, Hypospadias, Splenomegaly, Concentric...	OMIM:252010
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Growth delay, Hematuria, Ren...	OMIM:243910
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Abnormal circulating c...	ORPHA:369840
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Growth dela...	OMIM:252160
Mulibrey Nanism	Hepatomegaly, Short stature, Cardiomegaly, Myocardial fibrosis, Growth delay, Pericardial constri...	OMIM:253250
Silver-Russell Syndrome 2	Intrauterine growth retardation, Short stature, Neonatal hypoglycemia	OMIM:618905
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia, Proportionate short stature, Severe postnatal growth retardation...	ORPHA:391408
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Recurrent urinary tract infections, Small scrotum, Short stature, ...	OMIM:613658
Acth Deficiency, Isolated	Jaundice, Fasting hypoglycemia, Cholestasis	OMIM:201400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, S...	ORPHA:280365
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Aortic valve calcification, Nephroli...	ORPHA:56
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Short stature, Hydroxyprolinemia, Hypercalciuria, Hyperp...	OMIM:239000
Pituitary Hormone Deficiency, Combined, 2	Hypogonadism, Neonatal hypoglycemia, Short stature, Hypoglycemic seizures	OMIM:262600
D-Glyceric Aciduria	Hyperglycinemia, Hyperglycinuria, Nonketotic hyperglycinemia, Increased circulating free fatty ac...	ORPHA:941
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ...	OMIM:617303
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Growth delay, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures	OMIM:264700
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok...	OMIM:619377
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci...	ORPHA:98907
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619064
Mitochondrial Trifunctional Protein Deficiency	Cholestasis, Cardiomyopathy, Hypocalcemia, Left ventricular hypertrophy, Diffuse hepatic steatosi...	ORPHA:746
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria	OMIM:614520
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Growth delay, Hypocholesterolemia, Increased...	ORPHA:71
Bloom Syndrome	Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism, Growth delay, Azoospermia,...	OMIM:210900
Molybdenum Cofactor Deficiency, Complementation Group C	Increased urinary taurine, Hypocystinemia, Hypouricemia, Hypertaurinemia	OMIM:615501
Bachmann-Bupp Syndrome	Cryptorchidism, Hypoglycemia, Hyperbilirubinemia	OMIM:619075
Smith-Kingsmore Syndrome	Cryptorchidism, Rhizomelia, Hypoglycemia	OMIM:616638
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Postnatal growth retardation, Generalized aminoaciduria, Hypocalcemia, Hypophospha...	ORPHA:289157
Canavan Disease	Elevated urinary N-acetylaspartic acid level, Increased circulating N-acetylaspartic acid concent...	OMIM:271900
Shigellosis	Hyponatremia, Hypoglycemia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Abno...	ORPHA:810
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria	OMIM:618857
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomerulopathy,...	ORPHA:534
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Diabetes mellit...	ORPHA:98908
Perlman Syndrome	Nephrogenic rest, Hypoglycemia, Renal hamartoma, Cryptorchidism, Nephroblastomatosis, Pancreatic ...	OMIM:267000
Bruck Syndrome 2	Hydroxyprolinuria, Short stature	OMIM:609220
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Increased ...	ORPHA:556037
Biotinidase Deficiency	Organic aciduria, Hyperammonemia	ORPHA:79241
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Hartnup Disease	Abnormal urinary color, Short stature, Neutral hyperaminoaciduria	ORPHA:2116
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Hepatomeg...	ORPHA:116
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Postnatal growth retardation, Precocious puberty, Insulin resistance, Cryptorchidism...	ORPHA:96182
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c...	OMIM:193300
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Intrauterine growth retardation, Hypoglycemia, Cardiomyopathy	OMIM:617710
Proprotein Convertase 1/3 Deficiency	Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hyperlipidemia, Nephrolithiasis, Glucose intolerance, Renal cel...	ORPHA:189427
X-Linked Intellectual Disability, Armfield Type	Short stature, Cryptorchidism, Aminoaciduria, Abnormal cardiac septum morphology, Organic aciduri...	ORPHA:85276
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal def...	OMIM:270400
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple...	ORPHA:444490
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Increased ...	ORPHA:556030
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Hypoglycemia, Precocious puberty, Oligozoospermia, Hypokalemia,...	ORPHA:786
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Neurooculorenal Syndrome	Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Conjugated hyperbilirubinemia...	OMIM:620305
Sotos Syndrome	Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Muscular ventricular septal...	OMIM:117550
Cholera	Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp...	ORPHA:173
Shashi-Pena Syndrome	Atrial septal defect, Intrauterine growth retardation, Hypoglycemia, Unilateral renal agenesis	OMIM:617190
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Renal hypoplasia, Hypoplasia of the ovary, Azotemia, Intrauterine growth retardati...	OMIM:619321
Tryptophanuria With Dwarfism	Severe short stature, Tryptophanuria	OMIM:276100
Cimdag Syndrome	Hypogonadism, Hepatomegaly, Microvesicular hepatic steatosis, Cholelithiasis	OMIM:619273
Cog8-Cdg	Elevated hepatic transaminase, Hypoglycemia	ORPHA:95428
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis	ORPHA:615
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg...	ORPHA:404454
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hypoglycemia	OMIM:616355
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genitalia, female, Hypon...	ORPHA:90794
Basilicata-Akhtar Syndrome	Precocious puberty, Neonatal hypoglycemia	OMIM:301032
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agenesi...	ORPHA:2237
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Homocysti...	OMIM:277410
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Short stature, Fasting hypoglycemia	ORPHA:436174
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Hypoglycemia, Hypercalcemia, Renal salt wasting, Decreased uri...	ORPHA:95409
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Diaphanospondylodysostosis	Nephrogenic rest, Disproportionate short-trunk short stature, Nephroblastomatosis, Horseshoe kidn...	OMIM:608022
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Isovaleric Acidemia	Hyperglycinuria	OMIM:243500
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Hypospadias, Neonatal hypoglycemia	ORPHA:457485
Addison Disease	Hyponatremia, Primary testicular failure, Hypoglycemia, Hypercalcemia, Renal salt wasting, Decrea...	ORPHA:85138
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Sh...	OMIM:619127
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Hypoglycemia, Nephrocalcinosis, Atrial septal defect, Intrauterine growth retardation	OMIM:618005
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Short stature, Hypoglycemia, Prolonged neonatal jaundice	OMIM:233600
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Short stature, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomeg...	OMIM:602782
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Hypospadias, Cryptorchidism, Muscular ventricular se...	ORPHA:79324
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ...	OMIM:619167
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Secundum atrial septal defect, Severe intrauterine growth retard...	OMIM:609069
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Renal cyst, Polycystic ovaries	ORPHA:137675
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hypoplasia of penis, Ureteral duplication, Ventricular septal defect, Hepatoblastom...	ORPHA:373
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hepatitis, Hyperuricemia, Type I diabete...	ORPHA:199299
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal...	OMIM:261515
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Short stature, Hyperbilirubinemia, Hypoglycemia	OMIM:613986
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Orthostatic Hypotension 1	Hypomagnesemia, Nocturia, Neonatal hypoglycemia, Increased blood urea nitrogen	OMIM:223360
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega...	ORPHA:96191
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal...	ORPHA:14
Kabuki Syndrome 2	Short stature, Postnatal growth retardation, Horseshoe kidney, Pulmonic stenosis, Atrial septal d...	OMIM:300867
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia	OMIM:619053
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal...	ORPHA:57777
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Xeroderma Pigmentosum	Short stature, Cryptorchidism, Aminoaciduria, Hypogonadism, Decreased testicular size	ORPHA:910
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Atrial septal defec...	ORPHA:99413
Turner Syndrome	Bicuspid aortic valve, Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Atrial septal defec...	ORPHA:881
Mosaic Monosomy X	Bicuspid aortic valve, Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Atrial septal defec...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Atrial septal defec...	ORPHA:99226
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula...	OMIM:619525
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Intrauterine growth retardation...	OMIM:616897
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Elevated urine acetoacetic acid level, Cardiomyopathy, 3-Methylglutaconic a...	OMIM:620089
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Ventricular septal defect, Abnormal pulmona...	ORPHA:2162
Atypical Werner Syndrome	Renal neoplasm, Hypertriglyceridemia, Short stature, Diabetes mellitus, Aortic valve calcificatio...	ORPHA:79474
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Cryptorchidism, Micropenis, Hypoglycemia	OMIM:620224
Combined Oxidative Phosphorylation Defect Type 39	Intrauterine growth retardation, Neonatal hypoglycemia, Cryptorchidism	ORPHA:565624
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	OMIM:619573
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema...	OMIM:603903
Tenorio Syndrome	Enuresis, Hypoglycemia, Hypoinsulinemia	OMIM:616260
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Precocious puberty, Hepatosplenomegaly, Cholecystitis, Cholelithiasis	OMIM:301066
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hypoglycemia, Abnormal heart morphology, Atrial...	ORPHA:457279
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa...	OMIM:203700
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria, Abnormality of ci...	ORPHA:35706
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ...	OMIM:615356
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Intrauterine growth retardation, Hypoglycemia	OMIM:620275
Richards-Rundle Syndrome	Ketonuria, Hypergonadotropic hypogonadism	ORPHA:1399
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Short stature, Hydronephrosis, Neonatal hypoglycemia	ORPHA:35173
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated crea...	OMIM:251900
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormal heart valve morphology, Short stature, Hypospadias, Abnormality of ...	ORPHA:1606
Renal Agenesis, Bilateral	Nonketotic hypoglycemia, Abnormal morphology of female internal genitalia, Renal agenesis	ORPHA:1848
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic aciduria, Hyper...	OMIM:251120
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Microvesicular hepatic s...	OMIM:300868
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Pericardial effusion, Increased circulating ferritin concentration, Splenomegaly, H...	OMIM:615846
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card...	OMIM:266500
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Deeah Syndrome	Hepatomegaly, Short stature, Cryptorchidism, Intrauterine growth retardation, Micropenis, Neonata...	OMIM:619004
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly	OMIM:618886
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ...	ORPHA:416
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly	ORPHA:99931
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:308552
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia	ORPHA:95613
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Pulmonic stenosis	OMIM:617600
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Floating-Harbor Syndrome	Short stature, Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the...	ORPHA:2044
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, At...	ORPHA:79330
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Hypoglycemia, Hypogonadotropic hypogonadism, Growth delay, Prolonged neonatal...	ORPHA:226307
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology	ORPHA:1332
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa...	ORPHA:64
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease, Fasting hypoglycemia	ORPHA:25
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Cystathioninemia, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia	ORPHA:395
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Bannayan-Riley-Ruvalcaba Syndrome	Uterine neoplasm, Short stature, Hypoglycemia	ORPHA:109
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypoglycemia, Hypospadias, Crypto...	OMIM:201750
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Abnormal glycosphingolipid ...	OMIM:268800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Ventricular septal defect, Short stature, Unilateral renal ...	OMIM:188400
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Growth delay, Short stature, Hypoglycemia	OMIM:616007
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,...	OMIM:261740
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Bifid scrotum, Ventricular septal defect, Bicuspid aortic valve, H...	OMIM:619475
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple...	OMIM:618278
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal c...	OMIM:620306
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Dilated cardiomyopathy, Increased circulating free fatty acid level	OMIM:610768
Oculodentodigital Dysplasia	Neurogenic bladder, Ventricular septal defect, Hypoglycemia	ORPHA:2710
Aspartylglucosaminuria	Macroorchidism, Hepatomegaly, Aspartylglucosaminuria, Short stature	OMIM:208400
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Growth delay, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neonatal hypoglyc...	OMIM:617248
Sheehan Syndrome	Hyponatremia, Hyposthenuria, Hypoglycemia	ORPHA:91355
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Short stature, Cardiomegaly	OMIM:613320
Intellectual Developmental Disorder, Autosomal Dominant 68	Intrauterine growth retardation, Hepatic steatosis, Urinary incontinence	OMIM:619934
Holoprosencephaly 1	Micropenis, Short stature, Hypoglycemia, Single ventricle	OMIM:236100
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hypertriglyceridemia, Short stature, Hypogonadotropic hypogon...	ORPHA:3455
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Sarcoidosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Portal hypertension, Abnormal reproductive syst...	ORPHA:797
Wars2-Related Combined Oxidative Phosphorylation Defect	Intrauterine growth retardation, Neonatal hypoglycemia, Cardiomyopathy	ORPHA:572798
Floating-Harbor Syndrome	Short stature, Hypospadias, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis, Hydronephros...	OMIM:136140
Non-Acquired Panhypopituitarism	Pituitary dwarfism, Short stature, Hypoglycemia, Hypogonadotropic hypogonadism, Growth delay, Del...	ORPHA:90695
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Menkes Disease	Intrauterine growth retardation, Bladder diverticulum, Hypoglycemia, Prolonged neonatal jaundice	ORPHA:565
Aspartylglucosaminuria	Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism	ORPHA:93
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria	OMIM:609242
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Fucosidosis	Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria	OMIM:230000
Multiple Endocrine Neoplasia, Type I	Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia, Hypoglycemia	OMIM:131100
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Bicuspid aortic valve, Hypoglycemia	OMIM:614501
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Portal hypertension, Unilateral renal agenesis, Crypto...	OMIM:619503
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Intrauterine growth retardation, He...	OMIM:608013
Costello Syndrome	Renal insufficiency, Ventricular septal defect, Short stature, Hypoglycemia, Mitral valve prolaps...	OMIM:218040
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Cardiomegaly	OMIM:618143
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Hypogonadotropic hypogonadism, Proteinuria, Pericard...	ORPHA:79318
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Short stature, Ventricular septal defect, Cardiomegaly, Pericardial effusi...	ORPHA:363705
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Short stature, Cardiomegaly, Hepatosplenomegaly...	ORPHA:51
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Growth delay, Seve...	OMIM:252500
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:256040
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypercalcemia, Hypospadias,...	ORPHA:821
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C...	ORPHA:904
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Autism, Susceptibility To, 3	Ketonuria	OMIM:608049
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Elevated circulatin...	ORPHA:466677
Arterial Calcification, Generalized, Of Infancy, 1	Short stature, Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis, Hypophosphatemic rickets	OMIM:208000
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Glycogen accumulation in muscle...	ORPHA:365
Bohring-Opitz Syndrome	Short stature, Nephroblastoma, Cardiomegaly, Abnormal cardiac septum morphology, Urinary retentio...	ORPHA:97297
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Mucopolysaccharidur...	ORPHA:581
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, ...	ORPHA:268
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Micropenis, Neonatal hypoglycemia	ORPHA:457359
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Hypoglycemia, Hypogonadotropic hypogonadism, Growth delay, Delayed puberty, D...	ORPHA:95494
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Rhizomelia, Short stature, Cardiomegaly, Mitral valve prolapse, Atrial sep...	OMIM:245600
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Recurrent hypoglycemia, Hyperkalemia	ORPHA:293978
Yunis-Varon Syndrome	Short stature, Ventricular septal defect, Hypospadias, Cardiomegaly, Postnatal growth retardation...	ORPHA:3472
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Homocystinuria	OMIM:601552
Lethal Congenital Contracture Syndrome 10	Intrauterine growth retardation, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ...	ORPHA:391665
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature...	ORPHA:1677
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Lethal Acantholytic Erosive Disorder	Intrauterine growth retardation, Cardiomyopathy, Cardiomegaly	ORPHA:158687
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Growth delay, Abnormal cardiac septum morphology, Atrial...	ORPHA:980
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Myocardial calcif...	ORPHA:51608
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Singleton-Merten Syndrome 1	Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Subvalvular ...	OMIM:182250

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 Slc22a5

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 Slc22a5.

No publications found that use IMPC mice or data for Slc22a5.

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MGI Allele	Allele Type	Produced
Slc22a5^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Slc22a5^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc22a5^{tm275(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Slc22a5^em1(IMPC)Bay	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Slc22a5 MGI:1329012

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

X-ray

X-ray

X-ray

Eye Morphology

X-ray

Eye Morphology

X-ray

Human diseases caused by Slc22a5 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data