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Gene: Slc5a10 MGI:1926089

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Gene Summary

Name:
solute carrier family 5 (sodium/glucose cotransporter), member 10
Synonyms:
SGLT5,  C330021F16Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Slc5a10em1(IMPC)Rbrc HOM   Early adult 3.87×10-07

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc5a10 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc5a10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Hematuria, Nephrotic sy... OMIM:608709
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... ORPHA:209919
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod... OMIM:612526
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia OMIM:620357
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... OMIM:619386
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Decreased level of coenzyme Q10 in skeletal muscle, Proteinuria OMIM:614652
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... OMIM:255120
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis OMIM:261650
Rotor Syndrome
Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Porphyrinuria, Hyp... ORPHA:3111
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... OMIM:613752
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemi... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid leve... ORPHA:276575
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, ... OMIM:606762
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Lipoatrophy, Insulin resistance, Microscopic hematuria, Hepatic stea... ORPHA:79087
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate amino... OMIM:619048
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... OMIM:615980
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... ORPHA:552
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pan... ORPHA:79644
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... OMIM:617872
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... ORPHA:53693
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... OMIM:613070
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Steatorrhea, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, C... OMIM:602579
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... OMIM:151660
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, In... ORPHA:26792
Patent Ductus Venosus
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function OMIM:601466
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... OMIM:256300
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria OMIM:606528
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell... OMIM:617575
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Lipodystrop... ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-... ORPHA:79086
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid... ORPHA:276556
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminot... OMIM:261680
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent... ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hypoglycemia... ORPHA:369
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:620010
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinas... OMIM:201475
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu... OMIM:619013
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... ORPHA:79319
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... OMIM:615381
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated... OMIM:212140
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... OMIM:618805
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... ORPHA:2088
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... OMIM:251880
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia, Cardiomegaly ORPHA:88643
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Glomerulopathy, Hypertriglyceridemia,... ORPHA:2348
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Conjugated hyperbi... ORPHA:79303
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Decreased li... ORPHA:79327
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... OMIM:203800
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... OMIM:605814
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... ORPHA:79083
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... ORPHA:293964
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m... OMIM:608594
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... ORPHA:2298
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... ORPHA:264580
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul... OMIM:212138
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg... OMIM:618347
Dent Disease 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:300555
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... OMIM:617093
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insuffici... ORPHA:1667
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Hyperinsulinemia, Abnormal pa... ORPHA:2849
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co... OMIM:617156
Alg6-Cdg
Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Increased circu... ORPHA:79320
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... OMIM:246700
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... OMIM:231680
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia OMIM:615918
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hypoglycemia, Hyperammonemia ORPHA:35
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... OMIM:201450
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl... OMIM:210200
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Increased circulating ferriti... OMIM:618892
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... OMIM:608836
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... OMIM:277900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Flexion contracture, Abnormal m... ORPHA:367
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Hypoglycemic seizures, Myoglo... OMIM:231530
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... OMIM:613313
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Renal insufficiency, Recurrent u... OMIM:619487
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Galactosemia I
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase con... OMIM:230400
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Hypogonadism, Hepatic steatosis, Hydronephrosis OMIM:615996
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Nephrotic range proteinuria, Primary hypothyroidism... ORPHA:300536
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Hypoalbuminemia, Decrea... OMIM:608104
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... ORPHA:69076
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... OMIM:264470
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu... ORPHA:99901
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... ORPHA:280365
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Microscopic hematuria, Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease,... ORPHA:567546
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrov... OMIM:618329
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc... OMIM:229600
Macrocephaly-Intellectual Disability-Autism Syndrome
Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic stea... ORPHA:210548
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... ORPHA:369840
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... OMIM:308240
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Atypical scarring of skin, Hypogonadism, Type II diabetes ... ORPHA:791
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Hyperurice... ORPHA:348
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... OMIM:262190
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypergonadotropic hypogonadism, Hypothy... OMIM:212065
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cholestasis, Hepatic fibro... OMIM:246200
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co... OMIM:618183
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Hypoalbuminemia, Splenomegaly ORPHA:507
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... OMIM:616860
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... ORPHA:71
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... OMIM:615486
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating... OMIM:616050
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepa... ORPHA:541423
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Nephrotic syndrome, Focal segmental... OMIM:617303
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Congenital Analbuminemia
Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, H... ORPHA:86816
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Immunodeficiency 32B
Splenomegaly, Hepatomegaly, Hypoalbuminemia OMIM:226990
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... ORPHA:98907
Immunodeficiency 27A
Splenomegaly, Hypoalbuminemia, Hepatosplenomegaly OMIM:209950
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated circulating creatine kinase co... ORPHA:52430
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... OMIM:603553
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno... ORPHA:234
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ... OMIM:616026
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... ORPHA:88618
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Absence of subcutaneous fat, Cor... OMIM:610965
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hematuria, Ascites, Hypoalbuminemia, Decreased liver function OMIM:617021
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... ORPHA:85443
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Long pen... ORPHA:508
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circulating aspartate amino... OMIM:227810
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple... ORPHA:444490
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Primary Biliary Cholangitis
Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Jaundice, H... ORPHA:186
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... OMIM:613095
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Very long c... ORPHA:98908
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... OMIM:614922
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Inguinal hernia, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Homoc... OMIM:236200
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Eosinophilic Gastroenteritis
Ascites, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea ORPHA:2070
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypothyroidism, Hypoalbuminemia, Ascites, Hypoproteinemia OMIM:226300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:3085
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati... OMIM:610198
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubulointerstitial fi... ORPHA:79259
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Primary Sclerosing Cholangitis
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomega... ORPHA:171
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... ORPHA:247353
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Neoplasm of t... ORPHA:2126
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... ORPHA:769
Adrenomyodystrophy
Primary adrenal insufficiency, Abnormality of the urinary system, Hepatic steatosis, Megacystis ORPHA:977
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... ORPHA:230
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Hypothyroidism, Renal cyst, Nephrocalcinosis,... ORPHA:445038
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok... OMIM:619377
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Renal salt wasting, Microvesicular hepatic steatosis, Hepatic fibrosis, Hy... ORPHA:275761
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Refractory Celiac Disease
Elevated hepatic transaminase, Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, H... ORPHA:398063
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Fasciitis, Elevated circulating creatine... ORPHA:36234
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypospadias, Precocious puberty, Hyperlipidemia, Arthrogryposis multiplex cong... ORPHA:254346
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Microvesicular hepatic steatosis, Perineal hy... ORPHA:66634
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, Incr... OMIM:222470
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... OMIM:619418
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Decreased glomerular filt... OMIM:232200
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Hyperthyroidism, Abnormality of the endocrine system, Splenomegaly... ORPHA:37042
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... OMIM:611126
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal... ORPHA:14
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia,... OMIM:619055
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferas... OMIM:256810
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:529799
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... OMIM:145981
Congenital Enterovirus Infection
Fetal ascites, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure ORPHA:292
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Decreased serum testosterone concentrati... ORPHA:2959
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, He... OMIM:194380
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Mac... ORPHA:298
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti... OMIM:617729
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrati... OMIM:619991
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Nonketotic hypoglycem... ORPHA:20
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Flexion contracture, Hepatosplenomegaly, Nephrot... ORPHA:505248
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Decr... OMIM:232220
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Tyrosinemia, Type I
Acute hepatic failure, Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Renal insuf... OMIM:276700
Monosomy 13Q34
Insulin resistance, Fetal pyelectasis, Hepatic steatosis, Hypercalcemia ORPHA:96168
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Ascites, Hypoproteinemia ORPHA:90362
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... OMIM:261515
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Hypospadias, Hypoglycemia, F... ORPHA:17
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Inguinal hernia, Hypoglycemia,... OMIM:613658
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Hyposp... ORPHA:79324
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... ORPHA:3464
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hiatus hernia, Nephrotic syndrome,... OMIM:251300
Atypical Werner Syndrome
Renal neoplasm, Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin... ORPHA:79474
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Aromatase Deficiency
Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Hyperlipidemia, Insulin resistance, ... ORPHA:91
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Hypoalbuminemia ORPHA:67
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Chylous ascites, Hypoalbuminemia, Cirrhosis, Hypoc... ORPHA:90363
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Chronic pancreatitis, Hyperlipidemi... OMIM:232240
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Thyroid lymphangiectasia, Horseshoe kidney, Hypoalbuminemia, Camptodactyly, Vesic... OMIM:235510
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis OMIM:619273
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Cholestasis, Hypocalcemia, Left ventricular hypertrophy, Diffuse hepatic stea... ORPHA:746
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob... OMIM:619127
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... OMIM:616263
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, 3-Methylglutaconic aciduria, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin... OMIM:615356
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Hyperammonemia OMIM:616672
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Reduced circulating growth hormone concentration OMIM:615508
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... OMIM:619534
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... OMIM:619573
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Flexion contracture, Atypical scarring of skin, Decreased serum zinc, Hypoa... ORPHA:89842
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypothyroidism, Hepatit... OMIM:615846
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:614748
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic... OMIM:614946
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Hypospadias, Rena... OMIM:270400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... OMIM:203700
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph... OMIM:619525
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Hypoglycemia, Elevated circulating creatine k... ORPHA:99826
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Renal hypoplasia, Hypoplasia of the ovary, Azotemia, Micropenis, Hepatic ste... OMIM:619321
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Nodular regenerative hyperpl... ORPHA:404454
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Bloom Syndrome
Type II diabetes mellitus, Hepatic steatosis, Elevated hemoglobin A1c OMIM:210900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Hepatomegaly, Hip contracture, Bilateral fetal pyelectasis, Microve... OMIM:300868
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/... ORPHA:99226
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... ORPHA:273
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Proteinuria, Hypogonadotropic hypogon... ORPHA:79318
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Inguinal hernia, Parathyroid agenesis, Femoral hernia, Unil... OMIM:188400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosple... OMIM:618278
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Atrophic scars, Hypoalbuminemia, Scarring, Enamel hypoplasia ORPHA:79396
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral reflux, Dilatat... ORPHA:3455
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Intellectual Developmental Disorder, Autosomal Dominant 68
Joint contracture of the 5th finger, Hepatic steatosis, Urinary incontinence OMIM:619934
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Subcutaneous lipoma ORPHA:79076
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Hypospadias, Hypoglycemia, Microvesicular hepatic steatosis, Hyperamm... OMIM:220111
Ogden Syndrome
Global glomerulosclerosis, Inguinal hernia, Maternal diabetes, Cardiomegaly, Microvesicular hepat... OMIM:300855
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Hypospadias, Abnormal abdomen morphology, Jaundice, Hematuria, Hyp... OMIM:619475
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture, Knee f... OMIM:619503
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... ORPHA:391665
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatitis, Hypoalbuminemia, ... OMIM:619381
Tenorio Syndrome
Enuresis, Hypoglycemia, Hypoinsulinemia OMIM:616260
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormality... ORPHA:1606
Tropical Endomyocardial Fibrosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypoalbuminemia, Ascites ORPHA:75565
Leukocyte Adhesion Deficiency
Recurrent urinary tract infections, Glomerulonephritis, Hemolytic-uremic syndrome, Peritonitis, H... ORPHA:2968

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 Slc5a10

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 Slc5a10.

No publications found that use IMPC mice or data for Slc5a10.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Slc5a10tm37887(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc5a10tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Slc5a10em1(IMPC)Rbrc Inter-exon deletion Mice
Slc5a10tm51192(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc5a10tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc5a10tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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